Zitelli and Davis Atlas of Pediatric Physical Diagnosis 6th_yhocthuchanh2015

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ONLINE CONTENT The following supplemental content is available online at expertconsult.com ASSESSMENT TOOL DIGITAL VISUAL DIAGNOSIS IN PEDIATRICS Assessing Infant Development Teaching and Review Module © University of Pittsburgh

VIDEOS 1

NON-SEIZURE NEUROLOGIC SYMPTOMS Athetosis Breath-holding Spell Dystonia Hemifacial Spasms Infantile Shudders Rett Syndrome Sydenham Chorea

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RESPIRATORY DISORDERS Anterior Tracheal Compression Bronchial Stenosis Laryngomalacia Obstructive Apnea Vocal Cord Dysfunction Paradoxical Movement

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SEIZURES Absence Atonic Seizures Complex Partial Seizures Extensor Infantile Spasms Flexor Infantile Spasms Gelastic Seizures Generalized Tonic-Clonic Seizures Juvenile Myoclonic Epilepsy Non-Epileptiform Seizure

Zitelli and Davis’ ATLAS OF

PEDIATRIC PHYSICAL DIAGNOSIS

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Sixth Edition

Zitelli and Davis’

ATLAS OF

PEDIATRIC PHYSICAL DIAGNOSIS Basil J. Zitelli, MD

PROFESSOR OF PEDIATRICS UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE DIRECTOR THE PAUL C. GAFFNEY DIAGNOSTIC REFERRAL SERVICE CHILDREN’S HOSPITAL OF PITTSBURGH OF UPMC PITTSBURGH, PENNSYLVANIA

Sara C. McIntire, MD

PROFESSOR OF PEDIATRICS UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE ADVISORY DEAN OFFICE OF STUDENT AFFAIRS CHILDREN’S HOSPITAL OF PITTSBURGH OF UPMC PITTSBURGH, PENNSYLVANIA

Andrew J. Nowalk, MD, PhD

ASSISTANT PROFESSOR OF PEDIATRICS UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE PEDIATRIC INFECTIOUS DISEASE CHILDREN’S HOSPITAL OF PITTSBURGH OF UPMC PITTSBURGH, PENNSYLVANIA

1600 John F. Kennedy Blvd. Ste 1800 Philadelphia, PA 19103-2899

ZITELLI AND DAVIS’ ATLAS OF PEDIATRIC PHYSICAL ISBN: 978-0-323-07932-7 DIAGNOSIS Copyright © 2012 by Saunders, an imprint of Elsevier Inc. Copyright © 2007, 2002, 1997, 1992, 1987 by Mosby, an affiliate of Elsevier Inc. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publisher’s permissions policies, and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency can be found at our website: www.elsevier.com/permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein).

Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Library of Congress Cataloging-in-Publication Data Zitelli and Davis’ atlas of pediatric physical diagnosis.—6th ed. / [edited by] Basil J. Zitelli, Sara McIntire, Andrew J. Nowalk.    p. ; cm.   Atlas of pediatric physical diagnosis   Rev. ed. of: Atlas of pediatric physical diagnosis / [edited by] Basil J. Zitelli, Holly W. Davis. c2007.   Includes bibliographical references and index.   ISBN 978-0-323-07932-7 (hardcover : alk. paper)   I.  Zitelli, Basil J. (Basil John), 1946-  II.  McIntire, Sara.  III.  Nowalk, Andrew J.  IV. Atlas of pediatric physical diagnosis.  V.  Title: Atlas of pediatric physical diagnosis.   [DNLM:  1.  Diagnosis—Atlases.  2.  Child.  3.  Infant.  4.  Physical Examination—Atlases.  WS 17]   LC classification not assigned   618.92′00754—dc23            2011053495

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To our parents, who were our first teachers: Hannah L. Zitelli and Patsy A. Zitelli Thomas P. Nowalk and Lourdes W. Nowalk George M. McIntire and Charlotte M. McIntire To my wife, Suzanne, and my children, Matthew, Daniel, Benjamin, and Anne Zitelli To my wife, Amy Brinkos, and my children, James, Max, and Peter Nowalk To my brother, John, and my children, Frances and Madeline Marcelle To those exceptional teachers we have had, whose dedication, enthusiasm, and creativity helped make the acquisition, application, and sharing of knowledge more fun than hard work and who inspired us not only to perform to the best of our ability but also to become teachers as well as physicians: Henry Furrie, Paul C. Gaffney, MD, William H. Zinkham, MD, J.R. Zuberbuhler, MD, Crystie Halsted, MD, Ronald Lemire, MD, J. Carlton Gartner Jr., MD, William I. Cohen, MD To our residents and students, whose eagerness to learn and to put their knowledge to use keeps us learning actively and makes teaching so rewarding

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CONTRIBUTORS Vivek Allada, MD Associate Professor of Pediatrics University of Pittsburgh School of Medicine Clinical Director Pediatric Cardiology Heart Center Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Georgianne Arnold, MD Professor of Pediatrics University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Jennifer Arnold, MD, MSc Assistant Professor of Pediatrics Division of Perinatal-Neonatal Medicine Medical Director Pediatric Simulation Texas Children’s Hospital Houston, Texas Heather Baumhardt, BS, DDS Clinical Assistant Professor University of Pittsburgh School of Dental Medicine Pediatric Dentistry Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Beverly S. Brozanski, MD Professor of Pediatrics University of Pittsburgh School of Medicine Clinical Director Neonatal Intensive Care Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Mary M. Carrasco, MD, MPH Associate Clinical Professor of Pediatrics University of Pittsburgh School of Medicine Director International and Community Health Pittsburgh Mercy Health System Pittsburgh, Pennsylvania Diego Chaves-Gnecco, MD, MPH Assistant Professor of Pediatrics University of Pittsburgh School of Medicine SALUD PARA NIÑOS Program Director and Founder Developmental-Behavioral Pediatrics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Wassim Chemaitilly, MD Assistant Professor of Pediatrics Division Director Pediatric Endocrinology St. Jude Children’s Research Hospital Memphis, Tennessee

Lee B. Beerman, MD Professor of Pediatrics University of Pittsburgh School of Medicine Division of Pediatric Cardiology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Kenneth P. Cheng, MD Children’s Hospital of Pittsburgh of UPMC Pittsburgh Pediatric Ophthalmology and Adult Strabismus Wexford, Pennsylvania

Mark F. Bellinger, MD Visiting Professor of Urology Urology University of Pittsburgh School of Medicine Attending Urologist Urology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

David H. Chi, MD Assistant Professor University of Pittsburgh School of Medicine Director Hearing Center Division of Pediatric Otolaryngology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Albert W. Biglan, MD Formerly Adjunct Professor of Ophthalmology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Bernard A. Cohen, MD Professor of Dermatology and Pediatrics Director Cutaneous Laser Center Johns Hopkins University School of Medicine Baltimore, Maryland

Debra L. Bogen, MD Associate Professor of Pediatrics and Psychiatry University of Pittsburgh School of Medicine Division of General Academic Pediatrics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

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Contributors

James D. Cooper, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Pediatric Hematology/Oncology/BMT Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Todd Green, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Allergy and Immunology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Alene D’Alesio, DMD Clinical Assistant Professor Pediatric Dentistry Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Dena Hofkosh, MD Professor of Pediatrics University of Pittsburgh School of Medicine Developmental-Behavioral Pediatrics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Katherine P. Davenport, MD Joseph E. Robert, Jr. Research Fellow Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Medical Center Washington, District of Columbia Holly W. Davis, MD Associate Professor of Pediatrics, Emeritus University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Vincent F. Deeney, MD Associate Professor Department of Orthopaedics Residency Program Director Orthopaedic Surgery University of Pittsburgh Medical Center Pittsburgh, Pennsylvania Demetrius Ellis, MD Professor of Pediatrics and Nephrology University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Oscar Escobar, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Pediatric Endocrinology, Diabetes and Metabolism Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Heidi M. Feldman, MD, PhD Ballinger-Swindells Professor Pediatrics Stanford University School of Medicine Stanford, California Jonathan D. Finder, MD Professor of Pediatrics University of Pittsburgh School of Medicine Clinical Director Pediatric Pulmonary Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Robin P. Gehris, MD Chief Pediatric Dermatologic Surgery Dermatology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Timothy D. Kane, MD, FACS Associate Professor of Surgery and Pediatrics George Washington University School of Medicine Associate Chief of Clinical Affairs Pediatric Surgery Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Medical Center Washington, District of Columbia Sunhee Kim, MD Assistant Professor University of Pittsburgh School of Medicine Diagnostic Radiology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Jacqueline Kreutzer, MD, FACC, FSCAI Associate Professor of Pediatrics University of Pittsburgh School of Medicine Department of Pediatrics University of Pittsburgh Director Cardiac Catheterization Laboratory Pediatric Cardiology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Alexander Y. Lin, MD Clinical Instructor University of Pittsburgh School of Medicine Craniofacial and Pediatric Plastic Surgery Fellow Division of Pediatric Plastic Surgery Children’s Hospital of Pittsburgh of UPMC Division of Plastic Surgery University of Pittsburgh Medical Center Pittsburgh, Pennsylvania Joseph E. Losee, MD, FACS, FAAP Professor of Surgery and Pediatrics University of Pittsburgh School of Medicine Chief Division of Pediatric Plastic Surgery Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Andrew MacGinnitie, MD, PhD Assistant Professor of Pediatrics Harvard Medical School Associate Clinical Director Division of Immunology Children’s Hospital of Boston Boston, Massachusetts

Contributors



David H. MacKibben, DMD, MDS Formerly Clinical Associate Professor of Pediatric Dentistry University of Pittsburgh School of Dental Medicine Dental Services Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Suneeta Madan-Khetarpal, MD Associate Professor of Pediatrics University of Pittsburgh School of Medicine Division of Medical Genetics Department of Pediatrics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Brian Martin, DMD Clinical Assistant Professor University of Pittsburgh School of Dental Medicine Chief Division of Pediatric Dentistry Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Sara C. McIntire, MD Professor of Pediatrics University of Pittsburgh School of Medicine Advisory Dean Office of Student Affairs Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Marian G. Michaels, MD, MPH Professor of Pediatrics and Surgery University of Pittsburgh School of Medicine Pediatric Infectious Diseases University of Pittsburgh School of Medicine Pittsburgh, Pennsylvania Yosuke Miyashita, MD, MPH Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Morey S. Moreland† William F. and Jean W. Donaldson Professor of Orthopedic Surgery University of Pittsburgh School of Medicine Division of Pediatric Orthopedics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Pamela J. Murray, MD, MPH Professor and Vice Chair Pediatrics West Virginia University School of Medicine Morgantown, West Virginia Mamoun N. Nazif, DDS, MDS Formerly Clinical Professor of Pediatric Dentistry University of Pittsburgh School of Dental Medicine Formerly Staff Children’s Hospital of Pittsburgh Pittsburgh, Pennsylvania

†

Deceased.

David Nash, MD Clinical Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Director Outreach Allergy and Immunology Division of Pulmonary Medicine, Allergy and Immunology Department of Pediatrics Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Andrew J. Nowalk, MD, PhD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Pediatric Infectious Disease Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Melissa M. Riley, MD Neonatology Fellow University of Pittsburgh School of Medicine Division of Newborn Medicine Children’s Hospital of Pittsburgh of UPMC and Magee Womens Hospital of UPMC Pittsburgh, Pennsylvania A. Kim Ritchey, MD Professor of Pediatrics University of Pittsburgh School of Medicine Chief Pediatric Hematology/Oncology Vice Chair for Clinical Affairs Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Paul Rosen, MD, MPH, MMM Division of Pediatric Rheumatology Department of Pediatrics The Nemours/Alfred I. duPont Hospital for Children Wilmington, Delaware Jeffrey A. Rudolph, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Division of Pediatric Gastroenterology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Vera Sperling, MD Clinical Assistant Professor University of Pittsburgh School of Medicine Department of Radiology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania David Stukus, MD Assistant Professor of Pediatrics Division of Infectious Diseases, Allergy and Immunology Nationwide Children’s Hospital Columbus, Ohio Gina S. Sucato, MD, MPH Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Division of Adolescent Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

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Contributors

Sameh Tadros, MD, MSc Clinical Assistant Professor University of Pittsburgh School of Medicine Department of Radiology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Jean M. Tersak, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Division of Pediatric Hematology/Oncology and Blood and Marrow Transplantation Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Kathryn Torok, MD Assistant Professor of Pediatrics University of Pittsburgh School of Medicine Division of Pediatric Rheumatology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Rajiv Varma, MD Clinical Associate Professor Clinical Director Division of Pediatric Neurology University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania W. Timothy Ward, MD Professor Orthopaedic Surgery University of Pittsburgh School of Medicine Chief Pediatric Orthopaedics Department of Orthopaedic Surgery Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Daniel J. Weiner, MD Assistant Professor of Pediatrics Pediatrics University of Pittsburgh School of Medicine Co-Director Antonio J. and Janet Palumbo Cystic Fibrosis Center Medical Director Pulmonary Function Laboratory Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

Henry B. Wessel, MD Formerly Clinical Associate Professor of Pediatrics and Child Neurology University of Pittsburgh School of Medicine Formerly Director MDA Clinic Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Shelley D. Williams, MD Associate Professor of Pediatrics and Neurology University of Pittsburgh School of Medicine Division of Child Neurology Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Selma F. Witchel, MD Associate Professor of Pediatrics Pediatric Endocrinology, Diabetes and Metabolism University of Pittsburgh School of Medicine Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Robert F. Yellon, MD Professor of Otolaryngology University of Pittsburgh School of Medicine Co-Director Division of Pediatric Otolaryngology Director ENT Clinic Services Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania Basil J. Zitelli, MD Professor of Pediatrics University of Pittsburgh School of Medicine Director The Paul C. Gaffney Diagnostic Referral Service Children’s Hospital of Pittsburgh of UPMC Pittsburgh, Pennsylvania

FOREWORD Ralph Major pointed out that physical diagnosis is the bridge between the abstraction called disease described in medical books and the reality called patients with diseases, who are in front of us. History and physical examination are the fundamental tools of that physical diagnosis. Our ears, eyes, hands, and nose are the tools used in physical diagnosis, and they are readily available. All modern instruments, starting with the stethoscope, are an extension of our sensory system. Advances in the scientific aspects of medicine have given us tools that help us see parts of the body we could never see, listen to sounds we will never be able to hear, and touch and manipulate inaccessible parts of the body. These technologic advances have contributed enormously to the welfare of our patients. They have also come with a cost, as all new technologies do. Technology has created a barrier between the doctor and the patient. Patients feel that barrier. Enamored with the technologic advances, patients tend to think that laboratory tests and imaging studies make the diagnosis, not the physician. Physicians in training also are not as skilled in physical examination as physicians of earlier generations. There is a great need to train physicians how to perform a proper physical examination. This atlas of pediatric physical diagnosis, edited by Doctors Zitelli and Davis and, recently, Doctors Nowalk and McIntire, has been filling this need for several years. This unique compendium of pediatric conditions helps refocus the attention of physicians, the novice and the

experienced, on observing patients. It is a visual encyclopedia of both common and uncommon diseases of children. Using excellent photographs, the authors show important and classic physical findings and also proper techniques to use to elicit these findings. Having used this book for several years, I know that it is user friendly and fun to browse. It is deceptively simple considering the depth and the breadth of subjects covered. With the addition of new sections on genetic diagnosis and the role of imaging studies in physical diagnosis, this book is a “must” for all medical school libraries, pediatrics departments, and teaching clinics. Browse, read, or study as you please. And enjoy learning. Balu Athreya, MD Professor Emeritus of Pediatrics Perelman School of Medicine University of Pennsylvania Clinical Emeritus Professor of Pediatrics Jefferson Medical College Thomas Jefferson University Philadelphia, Pennsylvania Teaching Consultant Nemours/Alfred I. duPont Hospital for Children Wilmington, Delaware

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PREFACE For many disorders, visual recognition remains the key factor in making a correct diagnosis. The experienced clinician who has seen a wide spectrum of disorders carries a wealth of information for diagnosis and teaching. In a time in which use of technology may erode clinical skills, reinforcing the value of a complete history and careful physical examination grows more important. This book was envisioned by teachers and was developed to aid students, residents, nurses, and practitioners who care for children in the recognition and diagnosis of pediatric disorders. Our goal is to broaden the visual experience of the student and the clinician through rapid visual examination or review of laboratory tests and imaging studies. The enthusiastic response to the previous editions of the Atlas of Pediatric Physical Diagnosis led us to believe that a sixth edition was not only possible but also necessary. Many readers offered helpful suggestions for photographs and topics to be included. Every chapter has been reviewed, revised, and updated. Additional contributors have provided greater depth and dimension. Some chapters have been entirely rewritten,

and a new chapter regarding pediatric radiologic diagnosis has been added. Although new information, including imaging and diagnostic techniques, has been incorporated, we continue to emphasize the key role of the physical examination in each chapter. The book is by no means encyclopedic but rather presents an overview of clinical disorders that lend themselves to visual diagnosis. The accompanying text deliberately emphasizes pertinent historical factors, examination techniques, visual findings, and diagnostic methods rather than therapy. We firmly believe that a careful history and physical examination provide the foundation for any clinical assessment. We have attempted to select disorders that are common or important and, when relevant, to describe the spectrum of clinical findings. It is our hope that this book continues to serve as a useful and practical reference for anyone who cares for children. Basil J. Zitelli, MD Sara C. McIntire, MD Andrew J. Nowalk, MD, PhD

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ACKNOWLEDGMENTS The Atlas of Pediatric Physical Diagnosis results from the untiring efforts of many dedicated people who contributed not only to the current edition but also to all previous editions. Although each chapter has been reviewed, and some have been totally rewritten by new and continuing authors, each chapter is in some way built on the foundation of previous editions. All contributors from the first edition onward have left their mark, and their contributions continue to be felt. We remain in their debt. Many people at Children’s Hospital of Pittsburgh have contributed in countless ways to this book. First and foremost, we appreciate the generosity of our patients and their families, who graciously allowed us to photograph them for the education of those who care for children. Secretaries, radiology technicians, file clerks, librarians, medical media staff, and many unnamed colleagues who provided constructive criticism all have given freely of themselves to help us. We could not have succeeded without them. We thank them all for their tireless work, expertise, and unflagging support. It is impossible to underestimate the work and effort that Dr. Holly Davis has provided in the birth and development of

this book through five editions. Her vision, hard work, and contributions both as an editor and as an author have been invaluable and in large part have been responsible for the success of the book. We cannot thank her enough for her work. Holly has graciously agreed to stay on as a contributor to the Child Abuse and Neglect chapter for this edition. Our colleagues at Elsevier have been patient, understanding, and accommodating in guiding us through the publication process. Special thanks go to Judy Fletcher, Joanie Milnes, Linda Van Pelt, and other staff who worked countless hours in design, layout, and production of the final product. Finally, we thank the many thousands of readers who have found the previous editions of the Atlas of Pediatric Physical Diagnosis useful, for their praise, support, and suggestions. We hope that their suggestions and our efforts have resulted in an improved work that benefits them and their patients. Basil J. Zitelli, MD Sara C. McIntire, MD Andrew J. Nowalk, MD, PhD

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CONTENTS

1 GENETIC DISORDERS AND DYSMORPHIC CONDITIONS,  1

14 UROLOGIC DISORDERS,  559 Mark F. Bellinger

Suneeta Madan-Khetarpal  |  Georgianne Arnold

2 NEONATOLOGY,  45

15 NEUROLOGY,  585 Rajiv Varma  |  Shelley D. Williams  |  Henry B. Wessel

Beverly S. Brozanski  |  Melissa M. Riley  |  Debra L. Bogen

3 DEVELOPMENTAL-BEHAVIORAL PEDIATRICS,  79

16 PULMONARY DISORDERS,  617 Daniel J. Weiner  |  Jonathan D. Finder

Heidi M. Feldman  |  Diego Chaves-Gnecco  |  Dena Hofkosh

4 ALLERGY AND IMMUNOLOGY,  111

17 SURGERY,  643 Katherine P. Davenport  |  Timothy D. Kane

Andrew MacGinnitie  |  David Nash  |  Todd Green  |  David Stukus

5 CARDIOLOGY,  145

18 PEDIATRIC AND ADOLESCENT GYNECOLOGY,  693 Gina S. Sucato  |  Pamela J. Murray

Lee B. Beerman  |  Jacqueline Kreutzer  |  Vivek Allada

6 CHILD ABUSE AND NEGLECT,  181

19 OPHTHALMOLOGY,  731 Kenneth P. Cheng  |  Albert W. Biglan

Holly W. Davis  |  Mary M. Carrasco

7 RHEUMATOLOGY,  259 Kathryn Torok  |  Paul Rosen

8 DERMATOLOGY,  299 Bernard A. Cohen  |  Holly W. Davis  |  Robin P. Gehris

9 ENDOCRINOLOGY,  369 Wassim Chemaitilly  |  Oscar Escobar  |  Selma F. Witchel

10 NUTRITION AND GASTROENTEROLOGY,  401 Jeffrey A. Rudolph

11 HEMATOLOGY AND ONCOLOGY,  429 Jean M. Tersak  |  James D. Cooper  |  A. Kim Ritchey

12 INFECTIOUS DISEASE,  469 Marian G. Michaels  |  Andrew J. Nowalk

20 ORAL DISORDERS,  775 Brian Martin  |  Heather Baumhardt  |  Alene D’Alesio  |  Mamoun N. Nazif  |  David H. MacKibben  |  Holly W. Davis

21 ORTHOPEDICS,  803 Vincent F. Deeney  |  Jennifer Arnold  |  Morey S. Moreland  |  W. Timothy Ward  |  Holly W. Davis

22 PEDIATRIC PLASTIC SURGERY,  889 Alexander Y. Lin  |  Joseph E. Losee

23 OTOLARYNGOLOGY,  913 Robert F. Yellon  |  David H. Chi

24 FUNDAMENTALS OF PEDIATRIC RADIOLOGY,  961 Sameh Tadros  |  Vera Sperling  |  Sunhee Kim

INDEX,  1037

13 NEPHROLOGY,  531 Demetrius Ellis   |  Yosuke Miyashita

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GENETIC DISORDERS AND DYSMORPHIC CONDITIONS

1 

Suneeta Madan-Khetarpal  |  Georgianne Arnold

T

he field of pediatric genetics and dysmorphology is complex, interesting, and rapidly evolving. Our knowledge base is gleaned from the careful observations of master clinicians and scientists who recognized clinical characteristics and patterns of malformation in individuals with genetic, teratogenic, developmental, and metabolic problems. They have provided us with a framework for the investigation of patients from clinical and laboratory perspectives. In addition to classic cytogenetics, molecular cytogenetics methods have been increasingly incorporated in clinical settings and have greatly assisted evaluation, enabling far greater understanding of the molecular and physiologic basis of these disorders, and have greatly increased the rate of diagnosis of children with genetic and metabolic disorders. However, even with the availability of an ever-widening array of confirmatory tests, clinical evaluation of patients remains an essential component of the complete assessment of children and adults with genetic diseases and dysmorphic conditions. This stems from the fact that careful evaluation can substantially reduce the number of differential diagnostic possibilities and, thereby, the number of diagnostic tests and the total expense. Visual identification of dysmorphic features, baseline anthropometrics combined with serial measurements with recognition of patterns of malformation and behavioral phenotypes, remains an integral part of the diagnostic algorithm. As in pediatrics in general, genetic disorders should be investigated on the basis of a careful history, with a family pedigree and a thorough physical examination including evaluation for the presence of major and minor anomalies, and thoughtful laboratory testing. This chapter is designed to present clinicians who care for children with background on the general principles of genetics and dysmorphology, as well as updated information about important advances in our field. Although not exhaustive, it provides a framework for the broad cate­ gories of genetic diseases and discusses an approach to the evaluation of the dysmorphic child. Definitions and examples of the types of disorders resulting in genetic and/or congenital anomalies in children are described, including malformations, deformations, disruptions, associations, and sequences. We include examples of disorders inherited through classic mendelian inheritance patterns, including single-gene mutations, such as Marfan syndrome, Rett syndrome, Smith-Lemli-Opitz syndrome, and Conradi-Hünermann syndrome as well as examples of nonmendelian disorders such as teratogenic exposures in utero and disruptions or deformations of previously normal fetal structures. New etiologic mechanisms of diseases such as imprinting abnormalities and expansions of trinucleotide repeats in nuclear deoxyribonucleic acid (DNA) are presented. Last, a newly evolving area of genetics, the investigation of disorders of mitochondrial DNA and/or mitochondrial function, is discussed.

COMMON CHROMOSOMAL DISORDERS General Principles The Nature of Chromosomes Productive insights gleaned from the results of the completed Human Genome Project have dramatically changed some of our understanding of how the human genome functions. However, it is important to introduce to the reader our current understanding of the subject matter. Human hereditary factors are located in genes (the genome). Approximately 10% are genes that encode proteins that are assembled to form tissue structures or to form enzymes that catalyze chemical reactions within cells. The other 90% have functions that are currently not clear (see also The Nature of Genes and Single-gene Disorders, later). The genes are composed of DNA and are stored in intranuclear cell organelles called chromosomes. Each chromosome contains one linear DNA molecule folded over onto itself several times, as well as ribonucleic acid (RNA) and proteins. Because all genes exist in pairs, all chromosomes must likewise exist in pairs. The members of each pair of genes are called alleles, and the members of each pair of chromosomes are known as homologues. The conventional depiction of the constitution of homologues in the nucleus is called the cell’s karyotype (Fig. 1-1). If at any gene locus the alleles are identical, that gene locus is homozygous. If the alleles are not identical, the gene locus is heterozygous. Except for gametes, normal human cells contain 23 pairs of chromosomes, 46 in all. One of these pairs is concerned in part with inducing the primary sex of the embryonic gonads. These sex chromosomes are called the X and Y chromosomes, and they are not genetically homologous except in a few areas. Women have two X chromosomes, whereas men have an X and a Y chromosome. The remaining 22 pairs are called autosomes and they determine non–sex-related (somatic) characteristics. During most of a cell’s life cycle, chromosomes are diffusely spread throughout the nucleus and cannot be identified by morphologic means. Only when the cell divides does chromosome morphology become apparent (Fig. 1-2). The in vitro life cycle and the cellular division, or mitosis, of a somatic cell are illustrated in Figures 1-3 and 1-4, respectively. The life cycle and divisions, or meiosis, of a germ cell are much more complex and are not suitable for ordinary clinical evaluation. Any somatic cell that can divide in tissue culture can be used for chromosomal (cytogenetic) analyses. The most convenient tissue source is peripheral blood, from which lymphocytes can be stimulated to divide during 2 or 3 days of incubation in tissue culture medium. Fibroblasts obtained from skin remain a frequently used alternative when peripheral 1

2

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

G2

S

Mitosis

G1

Figure 1-3  The in vitro life cycle of a somatic cell. Interphase lasts 21 hours and can be divided into the following three stages: G1 (7 hours)—cell performs its tasks; S (7 hours)—DNA replicates; G2 (7 hours)—cell prepares to divide. Then mitosis occurs.

Figure 1-1  Photomicrographs show that this is a G-banded male karyotype. (A female would have two X chromosomes and no Y chromosome.) The horizontal banding produced by the Giemsa staining technique allows for precise identification of homologous chromosomes. (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

blood lymphocytes are not clinically suitable, but fibroblasts require an incubation period of 4 to 6 weeks. After death, lung tissue is the best tissue to culture for chromosomal analyses, although the process also requires a 4- to 6-week incubation period. Alternatively, skin fibroblasts are frequently obtained postmortem for various enzymatic and cytogenetic analyses, which may be used to confirm a clinical diagnosis. When a treatment decision requires urgency, preliminary

2p

1p 3

Aneuploidy Aneuploidy refers to an abnormality in chromosome number, in humans a chromosome number different from an even multiple of 23 (the haploid number) (Fig. 1-5). In aneuploidy

3

2q

1q

A

1p

chromosomal evaluation can be made within 4 to 24 hours by using uncultured bone marrow aspirate. Oftentimes the karyotype is supplemented within 48 to 72 hours by a molecular cytogenetics technique, either interphase or metaphase fluorescence in situ hybridization (FISH), using rapid culturing and diagnostic techniques. More recently, conventional cytogenetics is being substituted by high-resolution molecular karyotyping using microarray-based comparative genomic hybridization (array-CGH). Array-CGH enables copy number changes at high resolution. This is implemented in the clinical setting and is being recommended as the first step in the investigation of patients with developmental delays, mental retardation, and multiple congenital anomalies. FISH and other molecular techniques are now used primarily to confirm the imbalances detected by array-CGH. This is an ever-evolving area, and pediatric clinicians are advised to discuss clinical and laboratory investigations with clinical geneticists and/or laboratory directors before the initiation of tissue sampling to ensure the most productive use of samples and rapid testing methods.

B

3

3

A

1q

2q

C

D

B

C

D

F

G

1q

Figure 1-2  Morphology of a chromosome during metaphase. A, Metacentric chromosome with centromere (3) in the middle. B, Submetacentric chromosome with centromere off-center. C, Acrocentric chromosome with centromere near one end. D, Telocentric chromosome (not found in humans) with centromere at one end. The DNA of the chromosome has replicated to form two chromatids: 1p and 1q represent one complete chromatid, 2p and 2q the other complete chromatid (p refers to the short arm and q refers to the long arm). The chromosome will then divide longitudinally, as shown in (B).

E

Figure 1-4  Mitosis lasts about 1 hour, during which time the cell divides. A, Interphase cell at the end of G2. B, Prophase: replicated DNA condenses and is visible. C, Metaphase: 46 duplicated chromosomes align randomly on the spindle and can be photographed for karyotyping. D, Anaphase: chromosomes divide longitudinally, and half of each one moves to the opposite pole of the cell. E, Telophase: cell wall divides. F and G, Interphase at G1: two daughter cells, each with 46 chromosomes.

1  |  Genetic Disorders and Dysmorphic Conditions



3

genetic counseling before the conception of another child (Fig. 1-6, A-C).

Figure 1-5  Karyotype of a patient with trisomy 13 demonstrates aneuploidy. Note the extra chromosome 13, causing the cell to have 47 instead of 46 chromosomes. (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

there are typically 45 or 47 chromosomes instead of the usual 46. Rarely, multiples of the X or Y chromosome result in individuals with 48 or 49 chromosomes. Double aneuploidy, the simultaneous occurrence of two nondisjunctional events, has been described in the literature. In the liveborn, it usually involves one autosome and one sex chromosome. Double autosomal trisomy has been found repeatedly in spontaneous abortion but has not been demonstrated in a liveborn infant. If aneuploidy occurs in a gamete as a result of an error of chromosomal division (nondisjunction or anaphase lag) during meiosis, all cells are affected in the fertilized embryo. With subsequent pregnancies, the risk for another chromosomal abnormality in the offspring is increased approximately 1% to 2% overall, in addition to the general background risk of abnormalities. The couple would be at risk for aneuploidy states of many types, not just the particular aneuploidy in their affected child. We are not yet aware of the underlying mechanism for the increased risk; however, families may benefit from an understanding of the possibilities for prenatal diagnosis in their individual case and may want to be referred for

A

B

Mosaic Aneuploidy States.  Mosaicism, the presence of two or more genetically different cell lines within an individual, can result from an error in division during either meiosis or mitosis. In one possible scenario aneuploidy originates during meiotic division (i.e., before conception). In such cases the fetus starts out with an aneuploid chromosomal number and, subsequently, a division error occurs, resulting in the formation of another cell line that is chromosomally normal. In other cases of mosaicism the one-celled embryo (zygote) is chromosomally normal and a division error occurs after fertilization, during mitosis of an embryonic somatic cell, resulting in aneuploidy. Most individuals with mosaicism have only two or three different lines of embryonic cells. It requires considerable laboratory investigation to distinguish the meiotic or mitotic types. Generally speaking, parents are given a 1% to 2% recurrence risk because of the possibility of mosaicism present in a parental gonad, which is not identifiable in usual tissue sample analyses (Fig. 1-7). Hypomelanosis of Ito is characterized by marbleized or mottled areas of hypopigmented whorls of skin along the Blaschko lines and is of heterogeneous etiology. Individuals with hypomelanosis of Ito can have multiple congenital anomalies, dysmorphic features, variable mental retardation, and other neurologic findings. Karyotyping from skin lesions will reveal mosaic abnormality of chromosomes from normal or hypopigmented and hyperpigmented regions. Balanced and unbalanced chromosome aberrations and uniparental disomy may be encountered (Fig. 1-8). Abnormalities of Chromosome Structure Chromosomes can be normal in number (diploid) but still be abnormal in structure. Inversions (Fig. 1-9), deletions (Fig. 1-10), and translocations (Fig. 1-11) of genetic material are examples of structural chromosomal abnormalities. These can arise as new (sporadic) mutations in the egg or sperm from which the embryo was formed, in which case the parents’ recurrence risk for another child with a chromosomal abnormality is again 1% to 2%. However, the abnormality may also be inherited from a phenotypically normal parent who is a “carrier” of a structural chromosomal abnormality (Fig. 1-12). About 1

C

Figure 1-6  A female, 3 years and 8 months old, with double aneuploidy: aneuploidy depicted by cytogenetic studies. Karyotype and FISH studies show predominantly 47XXX; some 47XXX also have an extra 21 (48XXX+21). The patient has some features of Down syndrome. Note the up-slanted palpebral fissures (A), low-set ears (B), and unilateral simian crease (C). An echocardiogram showed a patent foramen ovale. The patient is receiving behavioral and speech therapy; she is not toilet trained and has an individualized education program (IEP) in preschool. Triple X females are tall and mosaic Down syndrome is similar to full Down syndrome but with a much milder phenotype. Her weight was in the 95th percentile, her height in the 80th, and occipital–frontal circumference (OFC) in the 20th.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 1-10  Deletion (arrow) of the p arm of chromosome 5 (cri du chat syndrome). (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

Figure 1-7  A 1-year-old with facies suggestive of Down syndrome. Note the facies and short fifth fingers and clinodactyly. The muscle tone and growth parameters were normal. Cytogenetics studies showed 2% of the cells with 47,XY+21; interphase fluorescence in situ hybridization (FISH) studies with an extra cell count showed trisomy 21 in 1.3% of 523 peripheral lymphocytes analyzed.

Figure 1-11  Unbalanced translocation. The additional DNA was translocated onto the q arm of chromosome 5. The abnormality was inherited from a normal carrier father (see Figure 1-12) with a balanced reciprocal translocation between the q arms of chromosome 3 and chromosome 5. The patient died of multiple birth defects and in essence had a partial trisomy of the distal portion of the q arm of chromosome 3.

Figure 1-8  Hypomelanosis of Ito. Karyotype at birth was normal: 46,XX. At 4 months of age characteristic streaks and whorls of hyper- and hypopigmentation of the skin were noted. A higher cell-count karyotype showed mosaicism for trisomy 14.

Figure 1-9  Pericentric inversion (arrow) of chromosome 13.

Figure 1-12  A “balanced” reciprocal translocation from chromosomes 3 to 5 in a normal man (the father of the chromosomally defective newborn whose karyotype is shown in Figure 1-11).

1  |  Genetic Disorders and Dysmorphic Conditions



in 520 normal individuals carries a balanced but structurally abnormal set of chromosomes, called a chromosome translocation. The term balanced, for the purposes of this chapter, means that on cytogenetic analysis the structural abnormality does not appear to have resulted in any net loss or gain of genetic material. If the apparently balanced chromosomal abnormality has been transmitted by other members of the family who are apparently phenotypically normal, it is considered a familial balanced translocation. Data suggest that a small percentage of individuals with apparently “balanced” translocations are actually mildly affected clinically by variable degrees of cognitive and physical deficits (Warburton, 1991). Thus high-resolution chromosome analyses and molecular cytogenetics techniques, such as array-CGH, are warranted in these instances including, as needed, in situ hybridization techniques using DNA probes to completely characterize the location of the chromosome breakpoints and to determine on a molecular level whether any genetic material is missing. Molecular studies for imprinting effects may also be warranted. A frequent way in which families with apparently balanced chromosome translocations present for evaluation occurs when a child is born with structural malformations and on karyotyping is found to have an unbalanced chromosome translocation. This may have occurred de novo in the child’s chromosomes only or may be due to a previously undiagnosed familial balanced chromosomal translocation in a parent. Parental karyotypes are used to distinguish the etiology and are crucial in providing accurate genetic counseling regarding future pregnancies for that couple. Incidence of Chromosomal Abnormalities Data from Hook (1992) suggest that upward of 50% of human conceptions terminate in a spontaneous abortion. Most of these miscarriages occur so early during gestation that the pregnancy is never recognized. The earlier the abortion occurs, the more likely it is that the miscarried embryo had a chromosomal abnormality. Of recognized first-trimester abortuses, 50% are chromosomally abnormal, compared with 5% of later embryos. Among the chromosomally abnormal abortuses, the most frequent abnormalities are triploidy (69 chromosomes), trisomy 16, and 45,X (Turner syndrome) (Table 1-1). Generally speaking, triploidy and trisomy 16 are not compatible with life and are only occasionally seen among liveborn infants. Despite

Table 1-1

Occurrence of Chromosomal Abnormalities

Among Spontaneous Abortuses

Incidence (%)

Overall incidence   First trimester   After first trimester Type of abnormality seen in spontaneous abortions   Trisomy 16   Other trisomies   Triploidy   45,X   Miscellaneous Among Liveborns

32.0 52.0 5.8

Overall incidence Abnormality of autosomes   Trisomies   Balanced rearrangements   Unbalanced rearrangements Abnormality of sex chromosomes   In males: XXY, XYY, mosaics   In females: 45,X (0.08), XXX, mosaics (1.43)

6.20 4.19 (males and females)

No. of Cases per 1000

2.03 (males and females)

About one quarter of all conceptuses are chromosomally abnormal. About 50 in 1000 stillborns have a chromosomal abnormality.

5

the fact that Turner syndrome is relatively common among liveborn infants, the majority of conceptuses with 45,X also abort spontaneously. The incidence of chromosomal abnormalities among liveborn infants in general is about 6 in 1000. Among a group including both stillborn infants and infants who die in the immediate perinatal period, the number is increased to approximately 50 in 1000. When to Suspect a Chromosomal Abnormality Chromosomal abnormalities of either number or structure are likely to have a detrimental effect on the phenotype of an affected individual. Aneuploidy of an autosome, or nonsex chromosome, generally significantly impairs physical and cognitive development. However, aneuploidy of a sex chromosome may have little or no apparent effect on the phenotype. One should look for clustering of abnormalities in family members to suggest a problem, although their absence does not rule out a chromosomal abnormality. Carriers of an inherited or a de novo reciprocal translocation are usually genetically balanced and are subsequently normal. However, their conceptuses are likely to be genetically unbalanced and may abort spontaneously or be born with major congenital anomalies. A history of unexplained infertility, multiple spontaneous abortions (three or more), and particularly of a previous birth to the couple or to a close relative of a child with dysmorphic findings and/or major anomalies may be an indication that one of the parents carries a balanced chromosomal translocation or rearrangement. A chromosome study on the couple is thus indicated, and if translocation is found, they should seek antenatal genetic counseling. This may also be advisable for extended family members. A normal person who carries a balanced reciprocal translocation can commonly produce six chromosomal types of gamete. On fertilization, these gamete types can result in several possible fertilized embryos: a normal conceptus, a carrier conceptus like the normal carrier parent, two types of immediately lethal conceptus resulting from gross chromosomal imbalances (i.e., too much or too little DNA), or two types of abnormal conceptus caused by lesser chromosomal imbalances. Whether the latter two types abort spontaneously or come to term as liveborns cannot be predicted in advance solely on theoretical grounds. Therefore genetic counseling in such situations depends somewhat on analysis of what has occurred within the individual family and in other families with similar rearrangements. Rarely, other types of chromosomal imbalances are found in conceptuses of such carrier parents. Experience suggests the following: If a carrier has already produced a chromosomally unbalanced liveborn child, then it is apparent that it is possible for this to occur again in future pregnancies, and the risk that the translocation carrier might have another chromosomally unbalanced liveborn infant can be as high as 20%. However, if the translocation carrier parent has produced either only healthy liveborn infants or spontaneous miscarriages, then it is less likely that the chromosomally unbalanced gametes are viable. Consequently, that person’s risk for producing a chromosomally unbalanced liveborn is only about 4%. Last, if a couple of whom one spouse is a carrier has not yet experienced any pregnancies, their risk for a chromosomally abnormal liveborn is estimated to be about 10%.

NEW TECHNOLOGIES Fluorescence in Situ Hybridization FISH is a laboratory technology that has revolutionized the diagnostic capabilities of clinical cytogenetic laboratories. In this technique a DNA probe is tagged with a label

6

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

In addition to classic cytogenetics, molecular cytogenetic methods are being incorporated in clinical settings at an increased rate. More recently, conventional cytogenetics is being substituted with high-resolution molecular karyotyping using microarray-based comparative genomic hybridization (array-CGH). Array-CGH analyses are proficient in detecting imbalances in the genome and enable detection of copynumber changes at high resolution. This technique has been implemented by the American College of Medical Genetics (ACMG) as the first step in the investigation of patients with devel­opmental delays, mental retardation, multiple congenital

abnormalities, and autism spectrum disorders and has the highest diagnostic yield, up to approximately 15% to 28%. This is much higher than the diagnostic yield of G-banded karyotypes (on the order of 3%), excluding Down syndrome and other recognizable chromosomal syndrome (Miller et al, 2010). In addition, molecular cytogenetic techniques, such as array-CGH, have demonstrated that approximately 20% of apparently balanced chromosome translocations, de novo or familial, have gain or loss of genetic material at the breakpoints. Therefore, molecular cytogenetic studies are warranted because they completely characterize the location of the chromosome breakpoints and potentially identify additional genetic material that may be duplicated or deleted that would not otherwise be detected by the traditional cytogenetic methods. FISH and other molecular techniques are now used primarily to confirm the imbalances detected by array-CGH. With microarray testing, many new microdeletion and microduplication syndromes have emerged (e.g., deletion 1p36, deletion 1q21.1, and deletion 16p13.11 syndromes) (Fig. 1-15; and see e-Figs. 1-1 through 1-3). Single-nucleotide polymorphism (SNP) arrays are being used in clinical settings and allow genome-wide copy-number analysis. The copy-number changes may provide insight into abnormalities such as segmental and uniparental disomy by revealing “copy number-neutral” areas of continuous homozygosity that can give rise to disease, congenital anomalies, and/or cognitive impairment. SNP arrays may be helpful in identifying translocated segments in uniparental disomy and in looking for imprinting effects of the chromosomal regions. Molecular karyotyping and single nucleotide polymorphism (SNP) arrays are ultimately more cost-effective tests and have been extremely useful to clinicians in identifying necessary medical surveillance and treatment options, and they provide information on recurrence risks and prenatal options for families. The impact of these newer methodologies continues to emerge, but their usefulness in providing information key to clinical prognosis is clearly becoming evident. Array-CGH has been increasingly used for genetic testing of individuals with idiopathic mental retardation, developmental delay, autism spectrum disorders, and multiple

Figure 1-13  4′,6′-Diamidino-2-phenylindole (DAPI)–counterstained metaphase and interphase images showing a duplication of the Prader-Willi/Angelman (D15S10 locus) critical region (red). The chromosome 15 centromere is used as a control (green). Adjacent to the centromere in red is the normal pattern for D15S10. SNRPN, small nuclear ribonucleoprotein-associated polypeptide N. (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

Figure 1-14  Metaphase chromosomes showing a deletion of the Wolf-Hirschhorn syndrome (WHS) critical region (red). A chromosome 4 centromere (4CEP) probe is used as a control, shown here in green. Absence of the red probe signal on one chromosome 4 (arrow) indicates a deletion of the WHS region at 4p16.3. (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

that fluoresces when viewed under a special microscope. A cocktail of many repetitive DNA probes blanketing a specific chromosome from end to end can be obtained. This is called a FISH “paint.” Using special microscope filters, a clinician can simultaneously FISH paint a slide with probes fluorescing in two or three different colors. FISH paints specific for all chromosomes are available. Some of the well-recognized syndromes described initially by FISH probes for chromosome microdeletion syndromes include the following: • Angelman syndrome: del 15q11-13 • Prader-Willi syndrome: del 15q11-13 • Cri du chat syndrome: del 5p15.2 • DiGeorge sequence/velocardiofacial syndrome: del 22q11.2 • Miller-Dieker/lissencephaly syndromes: del 17p13.3 • Williams syndrome: del 7q11.23 • Smith-Magenis syndrome: del 17p11.2 • Wolf-Hirschhorn syndrome: del 4p16.3 • Severe X-linked ichthyosis: del Xp22.3 • 1p36 deletion syndrome • 1q21.1 deletion syndrome • 16p13.11 deletion • Phelan-McDermid syndrome: del 22q13.3 See Figures 1-13 and 1-14 for details on Prader-Willi/Angelman syndrome and Wolf-Hirschhorn syndrome.

Array-based Technology: Microarray for Evaluation of Copy Number Variation

1  |  Genetic Disorders and Dysmorphic Conditions



Table 1-2

7

Some Syndromes Identifiable with Fluorescence in Situ Hybridization Probes

Syndrome

Major Findings

Cri du chat (deletion 5p15.2)

Microcephaly, round face, down-slanting palpebral fissures, epicanthal folds, hypertelorism, catlike cry in infancy Lissencephaly (incomplete development of brain with smooth surface) Microcephaly, lissencephaly, variable high forehead, vertical furrowing of central forehead, low-set ears, small nose with anteverted nostrils, congenital heart disease, poor feeding Phenotypes: • Velocardiofacial syndrome • DiGeorge sequence • Some cases of Opitz syndrome • Conotruncal type of congenital heart disease (in an infant with dysmorphic features) Moderate to severe cognitive impairment, hypertelorism, preauricular pit or tag, broad nasal bridge, micrognathia, cleft palate, short philtrum, growth deficiency Brachycephaly, flat facies, broad nasal bridge, short stature

Isolated lissencephaly Miller-Dieker phenotype with lissencephaly Deletion 22q11.2

Wolf-Hirschhorn (deletion 4p16.3) Smith-Magenis (deletion 17p11.2)

congenital anomalies. By combining the array-CGH technique with classic cytogenetic and confirmatory FISH and appropriate molecular analyses, we are also able not only to identify cryptic genomic alterations but also to further analyze gross genomic alterations including marker chromosome or other rearrangements identified by the classic cytogenetic analysis. In cases of disorders with several etiologic mechanisms such as Angelman syndrome, the absence of a deletion does not mean the child does not have the condition. An alternative mechanism, such as an imprinting center defect or uniparental disomy, may be the cause and would require methylation studies for detection.

Comments

Appears to be a common deletion and should be considered in the differential diagnosis of children with multiple anomalies even if the features are not classic to any one phenotype

Self-hugging behaviors, sleep disturbances

DiGeorge sequence is discussed in Chapter 4, Williams syndrome is discussed in Chapter 5, and Angelman and Prader-Willi syndromes are covered later in this chapter. The remaining syndromes are outlined briefly in Table 1-2 and in Figure 1-16, A-D; Figure 1-17; and Figure 1-18.

APPROACH TO THE EVALUATION OF A DYSMORPHIC CHILD Approximately 2% to 3% of liveborn infants have an observable structural abnormality. This number rises to about 4% to 5% by the time the child is old enough to attend school. Structural differences can be determined to be either major or minor in character (Table 1-3, and Figs. 1-19 and 1-20). Major structural anomalies have functional significance. Examples are polydactyly, colobomas of the iris (see Chapter 19, Fig. 19-69), meningomyelocele, and cleft lip. Minor anomalies are usually of cosmetic importance only. Examples are epicanthal folds of the eyes, single transverse palmar creases, and supernumerary nipples. The incidence of isolated major anomalies in the general newborn population is approximately 1%, and the incidence of minor anomalies is approximately 14%. Both are more common in premature newborns. The probability of an infant having a major anomaly increases with the number of minor anomalies found. Thus all children with multiple minor anomalies warrant a careful clinical assessment in order to find potentially significant occult major anomalies. Once an anomaly is identified, assessing its significance begins with a determination of whether the anomaly in question is a single localized error in morphogenesis or one component of a multiple malformation syndrome. An understanding of the pathophysiologic mechanisms

Table 1-3 Figure 1-15  An 8-year-old with del22q.11 and 1p31.1 microdeletion. Patient is short in stature; has a right aortic arch, sacral dimple, left cryptorchidism, and global developmental and significant cognitive and speech delays; and is not toilet trained. He had undergone surgical repair of the palate for velopharyngeal incompetence. Note the low-set, cupped, and posteriorly rotated ears and hypoplastic alae nasi. DiGeorge syndrome was diagnosed in utero by prenatal fluorescence in situ hybridization (FISH) on amniocytes: 46, XY, ish del(22) (q11.2q11.2) (TUPLE1–) was confirmed at 6 years of age by oligonucleotide arrays. In addition, 1p31.1 microdeletion was detected and maternally inherited.

Approximately 30% have deletion 17p13.3 Deletion 17p13.3 in vast majority

Examples of Congenital Anomalies

Category

Major

Minor

Craniofacial

Choanal atresia

Eyes Ears Hands

Coloboma of iris Microtia Polydactyly Absent thumbs

Plagiocephaly Flat occiput Epicanthal folds Preauricular pit Single transverse palmar crease Clinodactyly

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 1-16  A-D, Williams syndrome in four different patients: hallmark features include supravalvular aortic stenosis, hypercalcemia, friendly personality, connective tissue abnormalities, and characteristic facies. Note the periorbital fullness, epicanthal folds, prominent lips, long philtrum, and stellate lacy iris pattern. All cases with clinical features were confirmed on fluorescence in situ hybridization (FISH) alone or microarrays.

B

A

C

D

Figure 1-17  Metaphase image showing a deletion of the Williams critical region (red). Chromosome 7q31 probe (green) is used as a control. Absence of the red probe signal on one chromosome 7 (arrow) indicates a deletion of the elastin (ELN) locus at 7q11.23. (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

Figure 1-18  X-linked steroid sulfatase deficiency. A 14-year-old patient presented with joint laxity, struggles in school, and microcephaly. The karyotype was normal. Note the ichthyosis; the patient’s brother was not evaluated but was reported to have ichthyosis, attention-deficit/hyperactivity disorder (ADHD), and seizures. Deletion of the steroid sulfatase (STS) gene from the Xp22.31 region was confirmed by oligonucleotide arrays.

A

C

B

D

Figure 1-19  Clinical photographs show several minor anomalies seen at birth. A, Preauricular skin tag. B, Clinodactyly of the fifth finger. C, Macroglossia. D, Microretrognathia. (Courtesy Christine L. Williams, MD.)

A

B

C

D

E

F

G

H

I

Figure 1-20  Clinical photographs show several major anomalies seen at birth. A, Encephalocele. B, Cleft lip and palate. C, Meningomyelocele. D, Ectrodactyly (previously termed lobster-claw deformity). E, Polydactyly (postaxial). F, Bilateral clubfoot. G, Hypospadias. H, Fused labia with enlarged clitoris. I, Imperforate anus. (Courtesy Christine L. Williams, MD.)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

that produce structural abnormalities or differences provides an opportunity to define the types of structural abnormalities seen. This also assists the process of identifying the etiology and arriving at a specific diagnosis, which then can be useful in determining the prognosis and estimating the risk of recurrence of a similar problem in future pregnancies. Definitions of the classifications of structural anomalies aid in communication between clinicians and in the process of evaluation and are summarized from Jones (2006): Malformation: A malformation is an abnormality of embryonic morphogenesis of tissue. It usually results from genetic, chromosomal, or teratogenic influences, but it can be of multifactorial etiology. Malformations are divided into two main categories: those that constitute a single primary defect in development and those that represent a single component of a multiple malformation syndrome. A multiple malformation syndrome can be defined as one having several observed structural defects in development involving multiple organ systems that share the same known or presumed etiology. Malformations often require surgical intervention. Deformation: A deformation represents an alteration (often molding) of an intrinsically normal tissue caused by exposure to unusual extrinsic forces. A classic example is clubfoot, which may be the result of uterine constraint from crowding associated with a multiple gestation. A more severe example is the compressed facial features (“Potter facies”) of a child exposed to severe uterine constraint associated with oligohydramnios, due to renal agenesis (see Chapter 13, Fig. 13-38). The vast majority of deformations respond to medical therapy alone and have a relatively good prognosis in contrast to malformations, which frequently require surgical intervention. Disruption: A disruption represents a breakdown of normally formed tissue; the breakdown may be the result of vascular accidents or exposure to adverse mechanical forces that are usually more severe than those that produce deformation. A classic example is the combination of clefting, constriction bands, and limb reduction defects associated with the presence of amniotic bands (see Chapter 2, Fig. 2-46). The earlier these vascular accidents or abnormal forces occur during embryogenesis, the more severe the resulting defects (Fig. 1-21). Dysplasia: Dysplasia is characterized by abnormal organization of cells within tissue, which usually has a genetic basis. An example is achondroplasia, the most frequent form of skeletal dysplasia. (Note: Each of the preceding categories can have a sequence [see below] associated with it.)

Figure 1-21  Amniotic band syndrome; note the constriction ring at the ankle and amputation of the toes, a sequela to the amniotic bands.

Sequence: The term sequence refers to a recognizable pattern of multiple anomalies that occurs when a single problem in morphogenesis cascades, resulting in secondary and tertiary errors in morphogenesis and a corresponding series of structural alterations. A classic example is the Robin malformation or Pierre Robin sequence, in which the single primary malformation is microretrognathia (see Chapter 23, Fig. 23-63). The resulting glossoptosis, or posterior placement of the tongue in the oropharynx, interferes with normal palatal closure if the lingual displacement occurs before 9 weeks’ gestation. The resulting cleft palate is U-shaped, rather than having the V shape that is usually seen in classic cleft palate, a finding that aids in recognition. Association: An association is a pattern of malformations that occurs together too frequently to be due to random chance alone, but for which no specific etiology is yet recognized. The approach to the evaluation of a child with a dysmorphologic abnormality is similar to a careful diagnostic evaluation of most pediatric problems, starting with a complete history and careful physical examination. In obtaining these it is helpful to remember that there are six broad etiologic categories to be considered in the differential diagnosis: a known syndrome, an unknown syndrome, a chromosomal abnormality, a teratogen, a congenital infection, and a maternal disease and/or placental abnormalities. The history should include the following: • Course of the pregnancy, complications including possible infections or environmental exposures, medications/ substance abuse • Prior pregnancies, spontaneous abortions, stillborns, or infant/child deaths for this couple • Labor/delivery/perinatal problems • Past medical history • Growth and development • Meticulous family history with family tree going back three generations and including the following: • Familial traits and growth characteristics • Familial physical or developmental disorders • Spontaneous abortions, stillborns, infant/child deaths in extended family The physical examination entails the following: • Thorough general examination • A search for major and/or minor anomalies • Neurodevelopmental assessment In addition, focused examination of immediate family members for physical characteristics and growth parameters and review of family photo albums may be helpful. Determining how the child fits into the norms for growth and development for the general population, for the family’s ethnic group(s), and for the extended family is important. One continuing challenge is to determine whether the norms for the family are truly in the normal range for the general population and ethnic background or, in fact, constitute variability of a genetic trait present in its severe expression in the child or family member seen for evaluation. The identification of a recognizable pattern of both major and minor anomalies provides the clinical dysmorphologist with a diagnosis, or a short list of differential diagnostic possibilities. Thus the detection of major and minor anomalies is critical in the diagnostic process. Identification of specific and unusual malformations that are uncommon and occur in only a few syndromes can be especially helpful. For example, finding that a child has long palpebral fissure length and pronounced fingertip fat pad size in combination with the pattern of anomalies typical of the Kabuki syndrome makes it extremely likely that the diagnosis is the Kabuki syndrome. Training in

1  |  Genetic Disorders and Dysmorphic Conditions



dysmorphology emphasizes the recognition of key components in patterns of malformation, as well as the specific findings useful in distinguishing syndromes with similarities from one another. Texts that outline currently recognized patterns of malformations can be helpful in assisting the clinician in the identification of specific features that can rule a diagnosis in or out. Commercial computer-based programs exist for syndrome identification; however, these are often more effectively used by experts in the field because of the complexity of terminology and the need for exacting descriptions of the anomalies present in a given child. A chromosome study should be performed on each child with a syndrome of congenital anomalies. Such a study may establish or confirm the diagnosis of a chromosomal disorder and its hereditary potential and may possibly help map the chromosomal location of genes for those syndromes known to be simple mendelian disorders.

Abnormalities of Autosomes Down Syndrome The worldwide incidence of Down syndrome among liveborns is approximately 1 in 660, with 45% of affected individuals born to women older than 35 years of age. The incidence of Down syndrome among conceptuses is far greater than among

11

liveborns because the majority of Down syndrome fetuses spontaneously abort. No single physical stigma of Down syndrome exists; rather, the clinical diagnosis rests on finding a recognizable constellation of clinical characteristics including a combination of major and minor anomalies (Fig. 1-22). The most frequent features are up-slanting palpebral fissures and small external ears (by length). Several major anomalies are commonly associated with Down syndrome. Congenital heart disease is found in 45% of cases, particularly atrioventricularis communis and ventricular septal defects. Hence all newborns with Down syndrome should undergo cardiac evaluation with echocardiogram. About 5% have a gastrointestinal anomaly, most commonly duodenal atresia or Hirschsprung’s disease. An increased incidence of thyroid disorders also exists, particularly of the autoimmune type. Thus regular testing of thyroid function is recommended. Acute and neonatal leukemias occur 15 to 20 times more frequently in people with Down syndrome than in the general population. In newborns, much of this is represented by transient leukemoid reactions, with complete remission being the most frequent outcome. Quantitative abnormalities are found in many enzyme systems. People with Down syndrome are shorter than family members and the general population and have premature graying of hair. As adults, most males are infertile, but females may reproduce

C

D F

A

B

E

Figure 1-22  Down syndrome. These clinical photographs show several minor anomalies associated with this disorder. A, Characteristic facial features with up-slanting palpebral fissures, epicanthal folds, and flat nasal bridge. B, Brushfield spots. C, Bridged palmar crease, seen in some affected infants. Two transverse palmar creases are connected by a diagonal line. D, Wide space between first and second toes. E, Short fifth finger. F, Small ears and flat occiput.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

and can have children who will also have Down syndrome approximately one third of the time. Minor anomalies include brachycephaly; inner epicanthal folds; Brushfield spots; flat nasal bridge; a small mouth with protruding tongue that fissures with age; a short neck with redundant skin folds; single transverse palmar (simian) creases; clinodactyly of the fifth fingers, with single digital crease caused by hypoplasia of the middle phalanx; and wide spacing between the first and second toes. The number of such anomalies varies in any particular case. With rare exceptions, individuals with Down syndrome are cognitively impaired. The degree of impairment varies, with intelligence quotients (IQs) ranging from 20 to 80. Most individuals function in the mild to moderate range of developmental delay. The advent of individualized programs of early intervention therapy, education, and sporting activities has resulted in much improved outcomes and individuals who are much more likely to function at the maximum of their developmental capabilities. Autopsy analyses of brains from individuals with Down syndrome have revealed the neuropathologic changes of Alzheimer’s disease in 100% of those older than 40 years. Nevertheless, only about 25% of older individuals with Down syndrome exhibit clinical manifestations of Alzheimer’s disease. The reason for the clinical–pathologic discordance is not known. However, there does tend to be a progressive loss of cognitive functioning after the fourth decade of life. Longevity, although less than that of the general population, has steadily increased over the years. Individuals with Down syndrome who do not have congenital heart disease may expect to live well into their 60s. The principal causes of death in children with Down syndrome are infection, congenital heart disease, and malignancy. The etiology of Down syndrome is trisomy 21, the presence of an extra chromosome 21 either as a simple trisomy or as part of a chromosome 21 fused with another chromosome. These fused chromosomes are often robertsonian translocation chromosomes or isochromosomes. Cases of mosaicism, in which trisomy 21 cell lines coexist with cell lines with the standard 46 chromosomes, exist as well and may range in phenotype from normal to that typical of complete trisomy 21. An association between trisomy 21 and advanced maternal age is clear (Table 1-4). About 5% of Down syndrome cases represent a centric fusion translocation between the long arm of a chromosome 21 and those of a 13, 14, 15, 21, or 22 acrocentric chromosome. Of these, about one third are inherited from a clinically normal, balanced carrier parent; in the remaining two thirds the translocation is new in the affected child. Chromosome studies should therefore be performed on the parents and appropriate family members of an individual with translocation Down syndrome. If a parent carries a 21/21 translocation, all liveborns will have Down syndrome; for the remaining 21/centric fusion translocations, the empiric recurrence risk for a Down syndrome liveborn is less than 2% if the father is the carrier and roughly 15% if the mother is the carrier. The parents of

Table 1-4

Maternal Age–Specific Risk for Trisomy 21 at Live Birth

Maternal Age (yr)

Prevalence at Live Birth

25 30 35 40 45

1/1350 1/890 1/355 1/97 1/23

children with trisomy 21 may benefit from genetic counseling to determine their individual risk of having another child with Down syndrome or with other chromosomal abnormalities in future pregnancies. Trisomy 13 Trisomy 13 is a relatively rare (1 in 5000) genetic condition caused by the presence of additional chromosome material from all or a large part of chromosome 13. The vast majority of embryos with classic trisomy for a complete 13th chromosome abort spontaneously, but approximately 5% survive to be liveborn. They have a severe, recognizable pattern of malformation that allows clinicians to suspect this etiology immediately (Fig. 1-23). The hallmark features are defects of forebrain development related to those seen in holoprosencephaly, aplasia cutis congenita, polydactyly (most frequently of the postaxial type), and narrow hyperconvex nails. A broader listing of features is outlined in Table 1-5, which can be useful in comparing the features frequently seen in infants with trisomy 13 with those seen in trisomy 18. As with many syndromes, trisomy 13 and trisomy 18 share structural abnormalities; however, they usually are distinguishable on the basis of the pattern of anomalies present. Liveborn infants with trisomy 13 represent those who have the least severe structural abnormalities of major organs. Of these, about 5% survive the first 6 months of life. Thus discussions with parents about surgical interventions must take into account the small possibility of long-term survival and require sensitivity to the needs of the child and family. Milder chromosome abnormalities involving extra material determined to originate from chromosome 13 must be identified and distinguished from classic trisomy 13 because the clinical phenotype and prognosis may be different and, in some cases, less severe. Children with mosaicism, that is, with a normal cell line and a trisomy 13 cell line, as well as those with trisomy of part of chromosome 13, can be identified by chromosome analysis. Careful laboratory investigation must be carried out to identify the exact chromosomal abnormality. The advent of FISH technology has dramatically increased the ability of laboratory specialists to characterize chromosome

Table 1-5

Physical Abnormalities and Frequencies of Occurrence in Trisomy 13 and Trisomy 18 Syndromes

Abnormality

Trisomy 13

Trisomy 18

Severe developmental retardation Approximately 90% die within first year Cryptorchidism in males Low-set, malformed ears Multiple major congenital anomalies Prominent occiput Cleft lip and/or palate Micrognathia Microphthalmos Coloboma of iris Short sternum Rocker-bottom feet Congenital heart disease Scalp defects Flexion deformities of fingers Polydactyly Hypoplasia of nails Hypertonia in infancy Apneic spells in infancy Midline brain defects Horseshoe kidneys

†††† †††† †††† †††† †††† † ††† †† ††† ††† † †† †† ††† †† ††† †† † ††† ††† †

†††† †††† †††† †††† †††† †††† † ††† †† † ††† ††† †††† † †††† † ††† ††† † † †††

Symbols: Relative frequency of occurrence ranges from †††† (usual) to † (rare).

1  |  Genetic Disorders and Dysmorphic Conditions



A

C

B

D

13

E

Figure 1-23  Several physical manifestations of trisomy 13. A, Facies showing midline defect. B, Clenched hand with overlapping fingers. C, Postaxial polydactyly. D, Equinovarus deformity. E, Typical punched-out scalp lesions of aplasia cutis congenita. (A, Courtesy T. Kelly, MD, University of Virginia Medical Center, Charlottesville; B to E, courtesy Kenneth Garver, MD, Pittsburgh, Pa.)

rearrangements, with the goal being to identify the exact breakpoints of the chromosomes involved in the rearrangements. Molecular studies then may be possible to determine any potential impact of the rearrangement on individual genes and their products. This information is extremely helpful to clinicians in determining prognosis and in providing more realistic information when discussing treatment options. Rarely, children who have the recognizable pattern of clinical features of trisomy 13 have normal chromosomes. If a geneticist/dysmorphologist is not already involved, a consultation is warranted to aid in diagnosis and prognosis counseling and to determine any recurrence risks for the parents in future pregnancies. Trisomy 18 The chromosomal disorder trisomy 18 occurs in approximately 3 in 10,000 newborns, and females are more likely to be liveborn. Affected infants are small for gestational age and have a frail appearance, and the face tends to appear petite relative to the rest of the craniofacial contour (Fig. 1-24, A). They also have a recognizable pattern of malformation, but in these infants hallmark features—clenched hands with overlapping fingers (see Fig. 1-24, B), short sternum, and “low arch” fingerprint patterns—are minor anomalies. Major anomalies, especially congenital heart disease, are generally present as well and are the source of significant morbidity and mortality. Other common findings include a prominent occiput, low-set and structurally abnormal ears, micrognathia, and rockerbottom feet (see Fig. 1-24, C). See Table 1-5 for a broader listing of clinical features that can be useful in distinguishing trisomy 18 from trisomy 13, which shares many of the same structural abnormalities.

Trisomy 18 was previously thought to be almost invariably fatal in the neonatal period; however, more recent data suggest that a small percentage of children can live longer, and that between 5% and 10% will be alive at their first birthday. Survivors are more frequently female and have less severe structural abnormalities of major organs than most affected infants. Even with optimal neonatal, pediatric, and surgical management and excellent home-based care, children with classic trisomy 18 often “fail to thrive” and have significant developmental and cognitive impairments. Discussions with parents about interventions must take into account the slim possibility of long-term survival and require sensitivity to the needs of the child and family. Great care must be taken in providing a balanced picture to the family when discussing treatment options. Chromosome analysis allows clinicians to evaluate the etiology of the trisomy and can help determine prognosis. Results can demonstrate classic trisomy 18 due to a complete extra chromosome 18, mosaicism for trisomy 18, or a complex chromosome abnormality involving one or more chromosomes. Children with chromosomal rearrangements that result in partial rather than complete trisomy 18 may have a milder clinical outcome. Trisomy limited to the short arm of chromosome 18 is associated with a significantly milder prognosis, whereas trisomy of the entire long arm of chromosome 18 may be indistinguishable from an individual with classic trisomy 18. An infant with smaller areas of trisomy for the long arm of chromosome 18 may show some, but not all, of the features of classic trisomy 18. Thus chromosomal study of each child is essential. If a complex chromosome rearrangement is identified in a child, further parental chromosome studies are indicated.

14

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A

C Figure 1-24  Several physical manifestations of trisomy 18. A, Typical profile reveals prominent occiput and low-set, posteriorly rotated malformed auricles. B, Clenched hand showing typical pattern of overlapping fingers. C, Rocker-bottom feet. (Courtesy Kenneth Garver, MD, Pittsburgh, Pa.)

Chromosome analysis of the parents will determine whether the rearrangement is new in the child (de novo) or is the result of a familial balanced translocation. Full characterization of the extent of a chromosome rearrangement also allows clinicians to provide more accurate information regarding prognosis, treatment options, and recurrence risk to the family. If a familial balanced translocation is present in one of the parents, other family members may benefit from genetic counseling to discuss recurrence risk and the availability of prenatal diagnosis for future pregnancies. It has been our experience that parent support organizations can be extremely helpful to family members in the long process of adjustment to having a child with a chromosome problem. If the child dies, these groups can be helpful as a resource to the parents because of the similarity of their collective experience and can assist them in the grieving and healing process. They can also be a source of ongoing support and information to parents of a child with trisomy 13 or trisomy 18 who may live but who will face major medical and developmental challenges due to the chromosomal abnormality.

Abnormalities of Sex Chromosomes Turner Syndrome Turner syndrome is one of the three most common chromosomal abnormalities found in early spontaneous abortions. The phenotype is female. About 1 in 2000 liveborn females has Turner syndrome. Primary amenorrhea, sterility, sparse pubic and axillary hair, underdeveloped breasts, and short stature (4 1 2 to 5 ft) are the usual manifestations. Other external physical features may include webbing of the neck; cubitus valgus; a low-set posterior hairline; a shield chest with widely spaced nipples; and malformed, often protruding, ears (Fig. 1-25, A-E). Internally, renal anomalies may be present along

with congenital heart disease, particularly bicuspid aortic valve (in 30% of cases) and coarctation of the aorta (in 10% of cases). Affected women have an infantile uterus, and their ovaries consist only of strands of fibrous connective tissue. Newborns often have lymphedema of the feet and/or hands (Fig. 1-25, D and E), which can reappear briefly during adolescence. Mental development is usually normal. Schooling and behavioral problems seem to be the same as in agematched control subjects, although difficulty with spatial orientation such as map reading may be a problem. The classic physical findings of Turner syndrome may be absent, or the abnormalities may be so minimal in the newborn that the diagnosis is missed. The first indication may be unexplained short stature in later childhood or failure to develop secondary sex characteristics by late adolescence. Thus a chromosome study is indicated as part of the diagnostic workup of adolescent girls with these complaints. The karyotype in the majority of individuals with Turner syndrome is 45,X. Most often, the missing sex chromosome is paternally derived, so the risk of Turner syndrome does not increase with maternal or paternal age. Another 15% of individuals with Turner syndrome are mosaics (XO/XX, XO/XX/ XXX, or XO/XY). The physical stigmata may be less marked in mosaics, some of whom may be fertile. If an XY cell line is present, the intraabdominal gonads should be removed because they are prone to malignant change. The remaining cases of Turner syndrome have 46 chromosomes including one normal plus one structurally abnormal X. The latter may have a short (p) arm deletion or may be an isochromosome duplication of the long (q) arm of the X chromosome; usually it is paternally derived. Cases of Turner syndrome with one normal and one abnormal X chromosome are more likely to have other, more serious major anomalies including cognitive deficits. A structurally abnormal X chromosome may lead to abnormal X inactivation resulting in a deleterious dosage

1  |  Genetic Disorders and Dysmorphic Conditions



A

C

B

D

15

E

Figure 1-25  Clinical photographs show several physical manifestations associated with Turner syndrome. A, In this newborn a webbed neck with low hairline, shield chest with widespread nipples, abnormal ears, and micrognathia are seen. B, The low-set posterior hairline can be better appreciated in this older child who also has protruding ears. C, In this frontal view mild webbing of the neck and small widely spaced nipples are evident, along with a midline scar from prior cardiac surgery. The ears are low set and prominent, protruding forward. D and E, The newborn shown in (A) also had prominent lymphedema of the hands and feet.

effect for X-linked genes. Karyotypes such as 46,XYp- or 46,Xi(Yq) result in a female with Turner syndrome. Moreover, loss of the short arm of an X chromosome results in full-blown Turner syndrome; deletion of the long arm usually produces only streak (fibrous) gonads with consequent sterility, amenorrhea, and infantile secondary sex characteristics without the other somatic stigmata of Turner syndrome. If the diagnosis is clinically suspected, a chromosome study should be ordered. Should the affected child be 45,X or a mosaic, the parental risk for recurrence of a chromosomally abnormal liveborn is 1% to 2% but may be higher if a parent carries a structurally abnormal X chromosome. Antenatal diagnosis of chromosomally abnormal fetuses should be discussed with the parents, and the relatively good prognosis for Turner syndrome liveborns should not be overlooked. Girls with Turner syndrome should receive appropriate hormone therapy during adolescence to enable development of secondary sex characteristics and stimulate menses. Rarely, 45,X women with Turner syndrome have been fertile for a limited number of years. Klinefelter Syndrome One in 500 newborn boys has Klinefelter syndrome. The physical stigmata are subtle and usually not obvious until puberty, at which time the normal onset of spermatogenesis is blocked

by the presence of two X chromosomes. Consequently the germ cells die, the seminiferous tubules become hyalinized and scarred, and the testes become small. Testosterone levels are below normal adult male levels, although the level varies from case to case (the average being about half as much as normal). Hence there is a wide range in degree of virilization. At one extreme is the man with a small penis and gynecomastia (Fig. 1-26); at the opposite extreme is the virile mesomorph with a normal penis. Scoliosis may develop during adolescence. The average full-scale IQ of men with Klinefelter syndrome is 98, which is about the same as the general population. Behavioral problems may be more common than in the population at large, however. The karyotype in Klinefelter syndrome is XXY in 80% of cases and mosaic (XY/XXY) in the other 20%. Rarely the latter type may be fertile. About 60% of cases reflect a chromosome error in oogenesis, and in 40% an error in spermatogenesis. The risk of having an affected child increases with maternal age. Males with more than two X chromosomes (XXXY, XXXXY) are usually cognitively impaired and are more likely to have skeletal and other major congenital anomalies such as cleft palate, congenital heart disease (particularly a patent ductus arteriosus), and microcephaly. The parents’ recurrence risk for another chromosomally abnormal liveborn is 1% to 2%; antenatal diagnosis with subsequent pregnancies is possible.

16

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A

C

Figure 1-26  Clinical photographs show several physical manifestations of Klinefelter syndrome. A, Relatively narrow shoulders, increased carrying angle of arms, female distribution of pubic hair, and normal penis but with small scrotum due to small testicular size. B, Small testes and penis. C, Gynecomastia. (B, Courtesy Peter Lee, MD, Hershey Medical Center, Hershey, Pa; C, from Gardner LI, editor: Endocrine and genetic diseases of childhood, ed 2, Philadelphia, 1975, WB Saunders.)

XXX and XYY

Fragile X Syndrome

Triple X females have a karyotype result of 47,XXX. The incidence is approximately 1 in 1000 liveborn females. Affected individuals have no characteristic abnormal physical features. Although usually within the normal range of intelligence, their IQ scores may be lower than those of their normal siblings, delays in development of motor skills and coordination are common, and approximately 60% require some special education classes. Behavioral problems occur in approximately 30% and are usually mild. XXX women are fertile, and their children are usually chromosomally normal. XYY males have a karyotype result of 47,XYY. The incidence is 1 in 840 liveborn males. They tend to be tall in comparison with their own family members, but generally their phenotypic appearance is normal. As for 47,XXX females, their IQ is usually within the normal range but may be lower than that of siblings. Affected boys often come to medical attention because of problems with fine motor coordination, speech disorders, and learning disabilities. Early reports raised concerns about significant behavioral problems; however, long-term prospective studies now suggest that these boys do not have any greater incidence of problem behaviors than the general population. The risk of recurrence for a couple with a child with an XXX or XYY karyotype depends on many factors including the parents’ own karyotype results and advancing maternal age. Therefore it is recommended that they be referred for individualized genetic counseling when considering future pregnancies.

It has long been recognized that there is a significant excess of males in moderately to severely mentally retarded populations. Much of this inordinate male representation is the result of altered X-linked recessive genes. These may represent new mutations or inheritance of the abnormal gene from normal heterozygous (carrier) mothers. About 1 in 150 individuals, usually male, has some form of X-linked mental retardation. Of these it is estimated that between 30% and 50% have fragile X syndrome. In 1969 Herbert Lubs noted in short-term lymphocyte cultures the in vitro cytogenetic marker now called fragile X. However, its clinical significance was not realized until a 1977 report by G. R. Sutherland in Australia. Under tissue culture conditions that starve the cell of its ability to synthesize thymidylic acid, a chromosome break at Xq27, the distal part of the long arm of the X chromosome (Fig. 1-27), is visible in cells of individuals clinically affected with fragile X syndrome. By pedigree analysis, about 1 in 4000 males has the fragile X gene. Fragile X syndrome is the first recognized example of a trinucleotide repeat disorder. The gene involved, located at Xq27.3, is called FMR1 and is active in brain cells and sperm. At the start of the gene is the DNA trinucleotide CGG, which in the general population is normally repeated about 5 to 50 times (the average being 30). The presence of from 55 to 200 CGG repeats is considered a fragile X premutation. Individuals with a premutation appear clinically normal. The finding of more than 200 linear CGG repeats is considered a full mutation and in males results in fragile X syndrome. In females with more than 200 linear CGG repeats, there are clinical effects in 50% and apparently little or no effect in 50%. The explanation for this disparity in females most likely is the phenomenon known as X chromosome inactivation (Fig. 1-28).

MOLECULAR CYTOGENETIC SYNDROMES Advances in molecular genetics have provided new insights into the genetic pathogenesis of several syndromes often associated with specific cytogenetic abnormalities.

1  |  Genetic Disorders and Dysmorphic Conditions



Table 1-6

17

Relative Risk of Maternal Transmission of a Fragile X Premutation to Her Offspring as a Full Mutation

Number of CGG Repeats in Mother’s Premutation

Risk of Expansion to Full Mutation in Offspring (%)

55-59 60-69 70-79 80-89 90-99 100-109 110-119 120-129

3.7 5.3 31.1 57.8 80.1 100 98.1 97.2

From Saul RA, Tarleton JC: FMR1-related disorders. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-1998 [updated June 16, 2011]. Available from www.genetests.org. Figure 1-27  Fragile X chromosome marker in lymphocyte culture. Partial metaphase plate shows the chromosome break at Xq27 (arrow) characteristic of fragile X syndrome (solid Giemsa stain).

increases, the greater the likelihood that her premutation will expand to a full mutation in her offspring. The relative risk is shown in Table 1-6. Males affected with fragile X syndrome have cognitive impairment, ranging from severe to borderline in degree. The majority have an IQ between 20 and 49, and the remainder fall in the 50 to borderline IQ range. Furthermore, IQ may decline with age. The majority have speech delay, short attention span, hyperactivity, persistence of mouthing objects, and poor motor coordination. Many exhibit a variety of disordered behaviors including disciplinary problems, temper tantrums, poor eye contact, perseverative speech, hand flapping, avoidance of socialization, and rocking. Physical stigmata may include long, wide, or protruding ears; long face; a prominent jaw; flattened nasal bridge; “velvety” skin; hyperextensible joints; and mitral valve prolapse. Relative macrocephaly is more likely than microcephaly. Macroorchidism is found in most mature males. Approximately 50% of females affected with full-mutation fragile X are clinically normal. The 50% who are affected

Premutations and, in females, random X inactivation explain the lack of penetrance of the fragile X gene. No cases of new mutations for these FMR1 gene CGG trinucleotide expansions or repeats have been found. That is, all such expansions are inherited from a parent. A man with a premutation passes it on to all of his daughters as a premutation. Men with a full mutation generally do not reproduce. Men with premutations, however, do not have affected sons, because they give their Y chromosome to all of their male offspring. Women heterozygous for either a premutation or full mutation have a 50% chance of passing it on to each child as follows: If she has a full mutation, she passes it on as a full mutation in most instances; if she has a premutation, she passes it on to her child as either a premutation or expanded into a full mutation, depending on the size of her own premutation. As the number of repeats in the premutation

Figure 1-28  Functional behavior of the X chromosome in XX females. A, Somatic and premeiotic germ cells. Implantation occurs 5 days after conception, at which time in each female cell either XM or XP is randomly genetically inactivated and remains so in each of the cell’s descendants. Because the process is random, by determining the proportion of cells with an inactive XM or inactive XP in each of a large population of women, a gaussian population distribution of women is generated. That is, most women in the population will have an approximate 50 : 50 mix of cells, in which each cell expresses either XM or XP. However, some women will by chance have more cells with an inactive XM and vice versa. B, Meiotic germ cells. When a female germ cell enters first prophase of meiosis, X inactivation is abolished; both X chromosomes become genetically active through fertilization and continue so until embryonic uterine implantation. Then, as in (A), random X inactivation in XX females occurs all over again.

X- CHROMOSOME INACTIVATION Ovum XM

Female M P zygote X X

In ovary

Sperm XP

XMXP

X Active X Inactive M Maternally derived P Paternally derived

or

XMXP

XP

XMXP

Oogonia

XMXP

Primary oocytes

XM XMXP

XP

A

Secondary oocytes

Ovulation

X M X P Implantation

XM XMXP

Polar bodies

XM

Somatic and X M X P germ cells

XM

B

Polar bodies

XP XP

Ova

18

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

usually have lesser degrees of cognitive impairment than males; about 35% fall in the 20 to 49 IQ range and the remainder fall in the 50 to borderline range. However, learning disabilities, mood disorders, schizoid personality, and significant disturbances in affect, socialization, and communication are common. The physical features often seen in males with fragile X syndrome are less common in females. Laboratory testing for fragile X mutations is done by molecular genetic techniques. The standard molecular genetic test is Southern blot analysis of DNA extracted from cells, usually in blood. Another molecular genetic technique, polymerase chain reaction (PCR) analysis of DNA, can be done with less blood. These techniques can also be applied to fetal cells for the purpose of antenatal diagnosis. However, if the fetus is a female with a full mutation, it is impossible to predict with certainty whether the child will be clinically affected with fragile X syndrome after birth because of the influence of X inactivation. Rarely, an individual may seem to have a mild form of fragile X syndrome but tests are negative using these molecular genetic laboratory techniques. Another fragile X gene site (FRAXE) distal to the fragile X gene on Xq is associated with mild mental retardation and a positive fragile X cytogenetic laboratory test. The number of known trinucleotide expansion disorders is increasing. Three other examples are Huntington disease, caused by a CAG trinucleotide expansion in its gene at the end of chromosome 4p; myotonic dystrophy, resulting from a CTG expansion in its gene on chromosome 19q; and spinobulbar muscular atrophy caused by a CAG expansion in its gene on the proximal part of chromosome Xq.

The critical region of chromosome 15 for Angelman syndrome is located adjacent to the Prader-Willi critical region. However, when deletion of the Angelman critical region is causative, it is the maternally derived chromosome that is deleted. The six currently identified etiologic mechanisms of Angelman syndrome include the following: 1. A large chromosome deletion of 15q11-q13 including the Angelman critical region of the maternally derived chromosome 15 (68% of cases) 2. A structural chromosome abnormality involving the Angelman critical region of 15q11-q13 (translocation, etc.) 3. Paternal UPD of chromosome 15 (7% of cases) 4. Mutations of imprinting control center genes (3% of cases) 5. Mutations of the ubiquitin-protein ligase gene (UBE3A) (11% of cases) 6. Classic phenotype, with no identifiable etiologic mechanisms but a positive family history of other affected individuals (11% of cases) Note: Mechanisms 4, 5, and 6 account for approximately 25% of cases of Angelman syndrome. Because of etiologic variability and complexity of the diagnostic process, families of children suspected of having either of these disorders should be referred for genetic evaluation and diagnostic testing to ensure the most accurate determination of etiologic mechanism, and therefore, of recurrence risk. Current diagnostic testing for these disorders includes the following: 1. Karyotype with high-resolution cytogenetic technology

DISORDERS OF IMPRINTING (EPIGENETIC PHENOMENA): PRADER-WILLI AND ANGELMAN SYNDROMES Etiologic Mechanisms Prader-Willi and Angelman syndromes are disorders that derive from abnormalities of imprinted genes. The concept of imprinting refers to the fact that the function of certain genes is dependent on their parental origin: maternal versus paternal. This appears particularly true of the 15q11-q13 region of chromosome 15, a region that contains several imprinted genes that, when abnormal, result in recognizable constellations of physical and behavioral problems. Mechanisms that can produce the Prader-Willi phenotype include the following: 1. A chromosome deletion of 15q11-q13 including the PraderWilli critical region of the paternally derived chromosome 15 (majority of cases) 2. A structural chromosome abnormality involving the PraderWilli critical region of 15q11-q13 (translocation, etc.) 3. Maternal uniparental disomy (UPD) in which the child has two maternally derived chromosome 15s and no paternally contributed chromosome 15 (25% of cases). Note: The association of UPD with older maternal age suggests that in these cases the fetus may originally have had trisomy 15 but that owing to a phenomenon known as trisomic rescue, one of the three chromosome 15s was lost, returning the fetus to the normal chromosome number. If the “lost” chromosome was paternally derived, then UPD-derived Prader-Willi results. 4. Mutations of imprinting control center genes (1% of cases)

2. Methylation studies, which determine whether genes within the 15q11-q13 critical region are functional 3. Appropriate oligoarrays that cover and encompass SNRPN (small nuclear ribonucleoprotein-associated polypeptide N) for Prader-Willi syndrome and D15S10 for Angelman syndrome 4. In some cases of Angelman syndrome, direct analysis of the UBE3A gene

Clinical Findings in Prader-Willi Syndrome Newborns affected with Prader-Willi syndrome usually are markedly hypotonic and often have a history of decreased fetal movement in utero and breech fetal position. Although birth is usually at term, birth weights tend to be below 3000 g. In neonates, in addition to hypotonia, poor sucking and swallowing are common and predispose to choking episodes that can cause respiratory problems. Although the baby’s cry may be weak and Moro and deep tendon reflexes are often decreased, the neurologic evaluation is otherwise unremarkable. Subsequently motor development is delayed, speech even more so, and most patients have cognitive impairment in the mild to moderate range. Hypotonia abates over the first 2 to 3 years, and patients develop an insatiable appetite that rapidly results in morbid obesity. The distribution of excess fat is particularly prominent over the lower trunk, buttocks, and proximal limb. Although the facies are not particularly dysmorphic, they are similar in most Prader-Willi patients. The bifrontal diameter is narrow, the eyes are often described as “almond shaped,” and strabismus is not unusual. Hypopigmentation is common, the patient usually having blond to light brown hair, blue eyes, and sun-sensitive fair skin. Picking of skin sores can become a problem. Hands and feet are

1  |  Genetic Disorders and Dysmorphic Conditions



noticeably small from birth, and the stature of the older child and adult is short. The penis and testes are hypoplastic in males with Prader-Willi syndrome, although the penile size can be enlarged by testosterone therapy. If the testes are cryptorchid, surgical correction should be attempted. Menarche in females is delayed or absent, and menses, when present, are sparse and irregular. Gonadotropic hormone levels are reduced in both sexes. Infertility is the rule, but there are two known exceptions. Of particular concern in older children with Prader-Willi syndrome are problems of emotional lability and extreme temper tantrums. These conditions and the overeating often can be partly ameliorated by intensive inpatient behavioral modification programs followed by longitudinal parental support and follow-up in the home. Interestingly, despite a normal basal metabolic rate, weight reduction requires significantly more severe caloric restriction in these patients than in normal persons. Diabetes mellitus can develop in the older child, and its incidence is correlated with the severity of obesity. Although it tends to be insulin resistant, the condition responds well to treatment with oral hypoglycemic agents. Life expectancy can be shortened by cardiorespiratory complications related to the extreme obesity (pickwickian syndrome).

Clinical Findings in Angelman Syndrome Angelman syndrome, first recognized in 1956, has an incidence of 1 in 15,000 to 1 in 20,000 live births. Except for the tendency to have hypopigmentation, the clinical phenotypes of Prader-Willi and Angelman syndromes are quite different. The latter have severe cognitive deficits; speech is impaired or absent; and inappropriate paroxysms of laughter are common. Physical features include microbrachycephaly, maxillary hypoplasia, large mouth, prognathism, and short stature (in adults). The gait is ataxic, with toe-walking and jerky arm movements. Akinetic or major motor seizures are common. Although survival to adulthood is possible, to date only one patient with Angelman syndrome has been known to reproduce. Note: Some other examples of imprinting disorders are Beckwith-Wiedemann syndrome (Fig. 1-29, A-C).and RussellSilver syndrome.

A

B

19

THE NATURE OF GENES AND SINGLE-GENE DISORDERS A gene consists of a sequence of DNA that contains the code for production of a “functional product” along with sequences that ensure “proper expression” of the gene. Its product may be an RNA molecule or a polypeptide chain or protein that ultimately becomes a structural component of a cell or tissue, or of an enzyme. The latter may catalyze a step in formation or modification of another product, a step in cell metabolism, or one of a number of steps involved in the breakdown or degradation of molecules that are no longer necessary. “Proper expression” includes production of the product at the right time, in the needed amount, in the correct cell type and ensures its transport to its proper site of biologic action. Approximately 30,000 genes are arranged in linear fashion on the chromosomes, all having their own specific locus. Genes range in length from about 1000 to hundreds of thousands of bases in length (any of which can be subject to mutation). Coding sequences for a gene’s product, termed exons, vary in length and are not continuous but occur in sections with noncoding sequences, termed introns, interspersed between them. Exons are further subdivided into triplets of bases, termed codons, each of which encodes a specific amino acid within the polypeptide product. Because there are 64 possible triplet combinations of the 4 nucleotide bases (adenine, guanidine, thymine, and cytosine) and 20 amino acids, most amino acids have more than one codon that can specify them, the exceptions being methionine and tryptophan, which have only one specific codon each. In addition, three triplets encode stop codons in the messenger RNA (mRNA) that signal the termination of mRNA translation. The process of going from DNA code to polypeptide product has many steps and begins with transcription, during which the DNA of the gene serves as a template for the formation of an mRNA molecule. RNA synthetase, proteins called transcription factors, and regulatory elements all participate in this process, which is initiated and concluded by DNA sequences that signal where to start and stop transcription. After this, both ends of the mRNA molecule undergo modification. Thereafter, the introns are excised and the exons spliced together. Then the mRNA is transported to the rough endoplasmic reticulum within the cytoplasm, where it attaches to

C

Figure 1-29  A, Beckwith-Wiedemann syndrome. Note the macrosomia, macroglossia, and asymmetry with hemihypertrophy and omphalocele and/or umbilical hernia. Craniofacial features also include unusual ear creases. B, At 3 months of age; note the macroglossia, right facial prominence, and ear creases. C, At 27 months of age; note the resolving umbilical hernia. The elevated α-fetoprotein (AFP) levels from infancy have normalized. The patient has nephromegaly, and is under surveillance for the detection of embryonal tumors by serum AFP and abdominal and renal sonograms every 4 months. Chromosomes were normal male complement, 46,XY. The abnormal methylation pattern of the LIT1 gene at the 11p15 region confirmed the clinical diagnosis of Beckwith-Wiedemann syndrome.

20

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

ribosomes, and the process of translation from mRNA template to polypeptide chain begins. During translation transfer RNA (tRNA) molecules, each of which is specifically designed to attach to a particular amino acid, find their target moieties and bring them into position at the correct time over a codon on the mRNA that specifies for their particular amino acid. After assembly, the polypeptide chain is released from its template and then may be subject to posttranslational modification. Steps may include folding, bonding into a threedimensional conformation, being combined with another or other polypeptide chains as part of a protein complex, being split into smaller segments, and addition of phosphate or carbohydrate moieties. Thereafter, it is transported to its site of action via directional terminal sequences, which are then cleaved from the finished product. Mutation of a gene encoding the polypeptide product or for any molecule used at any step along the entire process can adversely influence the end product. A single-gene mutation produces a permanent change in a gene’s DNA sequence and may involve anywhere from one to several thousands of nucleotides. Most appear to affect only one to a few to several base pairs via substitution of one base for another or by deletion or insertion of one or more bases. Some mutations have no effect on phenotype or cell function. One example is a base substitution within a codon for an amino acid that changes it to another codon specifying the same amino acid. Still other mutations have no adverse effect but rather encode normal variations in human characteristics (e.g., eye or hair color). Other mutations do have adverse effects and are causative in disease. Examples of these include missense mutations, in which a base substitution changes a codon specific for one amino acid into one specifying another; frameshift mutations, in which a deletion or insertion is not an exact multiple of three bases, and thereby shifts the reading frame for transcription (and later translation) from that point on; and nonsense mutations, in which a base substitution changes a codon for an amino acid into one specifying one of the three possible stop codons in mRNA, thereby stopping translation prematurely. A single-gene disorder is the result of a mutation altering the DNA sequence within a single gene on one (dominant) or both (recessive) of a pair of chromosomes. Correspondingly, this change may result in alteration of the amount of the gene’s product, failure to produce the product at all, and/or compromise of its functional integrity. The greater the degree of functional loss, the more severe the clinical manifestations of the disorder and often the earlier their onset. Figures 1-30 through 1-33 are representative of single-gene disorders. Mutation(s) of gene(s) within the nuclear genome are also recognized as mendelian disorders. The occurrence and/or recurrence are in fixed proportions (Mendel’s laws). These disorders are compiled in a catalog, the Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/ omim), which is a great resource. Phenotype–genotype correlations are unfolded by detailed clinical evaluation, recog­ nition at a clinical level, and confirmation by molecular diagnostics confirming the genotype. Pedigree analyses are usually helpful. Autosomal, X-linked, recessive, and dominant patterns are recognized. Gene penetrance, disease expressivity, genetic (locus) heterogeneity, and allelic heterogeneity are some of the well-recognized complexities characterizing mendelian disorders. The family of disorders known as osteogenesis imperfecta (OI; see also Chapter 21) provides a good example of the effects of mutations that alter the precursors of a structural protein, type I collagen. Collagen is a triple helix made up of two pro-α1 chains and one pro-α2 chain. The latter are composed of hundreds of amino acid triplet repeats, with glycine

(the smallest amino acid) being the first member of each triplet and forming the apex of each bend in the helical structure. A base substitution in a codon specifying glycine at any one of the hundreds of such points along either the COL1A1 gene (on band 17q21) or the COL1A2 gene (on band 7q22.1) may result in the production of an unstable mRNA molecule that is degraded in the nucleus, or in the production of structurally abnormal pro-α1 or pro-α2 chains. The assembly of these may be slowed; they may be subject to excessive posttranslational modification, may be unstable and subject to degradation, or may have difficulty conforming and associating with other prochains to form the triple helix. The earlier the altered mRNA codon appears in the translation process, the more abnormal is the resulting prochain structure, and the greater is the degree of compromise of collagen strength and function within connective tissues. Also, because there are two pro-α1 chains for each pro-α2 chain, mutations in the COL1A1 gene are more likely to be deleterious. These types of mutations, which result in the synthesis of structurally abnormal products, are the basis for clinical abnormalities found in types II to IV OI. In type I OI, the causative mutations in the COL1A1 gene (often nonsense or splicing mutations) usually result in the production of mRNA that is so abnormal it is degraded before it can leave the nucleus and be translated, or in the synthesis of a prochain that is unstable and degraded. Hence the mutant gene is unexpressed, that is, a null mutation. The end result of this is that the patient can make only 50% of the expected amount of type I collagen, although all of the product is structurally normal. Being the mildest form of OI, it demonstrates the fact that in many cases of mutations involving genes that encode structural polypeptides or proteins, it can be better to have no gene product than to have an abnormal one. The phenomenon of excessive posttranslational modification of a structurally abnormal gene product is also seen in some types of Ehlers-Danlos syndrome (see Ehlers-Danlos Syndrome, later). When the gene product is an enzyme or a component of an enzyme, this results in interruption of its step in a chain of reactions that may be involved in the formation or modification of a product, a step in cell metabolism, or in the degradation of molecules no longer needed by the cell. The missed step results in a build-up of substrate from the step preceding the one in which the affected enzyme acts. In some instances this accumulated substrate can be toxic, as in phenylketonuria. In others, ever-expanding storage of substrate can adversely affect cell function, as in the lysosomal storage diseases.

Connective Tissue Disorders of Genetic Origin See Table 1-7 for examples of some connective tissue disorders of genetic origin. Marfan Syndrome Marfan syndrome is a genetic disorder of connective tissue that is inherited as an autosomal dominant trait, although approximately 25% to 30% of cases represent new mutations. The site of the genetic abnormality or mutation is the fibrillin gene (FBN1) located at band 15q21.1 on chromosome 15. As a result, the molecular structure of the protein fibrillin, an intrinsic component of connective tissue, is abnormal. Clinical consequences are most notable in the musculoskeletal, cardiovascular, and ocular systems and in the dura. Approximately 70% of cases are familial. Classic phenotypic findings include arachnodactyly (Fig. 1-34, A and B); joint hyperex­ tensibility due to ligamentous laxity (see Chapter 5, Fig. 5-8, B); tall stature with long, thin extremities; a decreased

1  |  Genetic Disorders and Dysmorphic Conditions



A

21

C

B Figure 1-30  Classic presentation for features of X-linked recessive hypohidrotic ectodermal dysplasia at 1 to 20 months of age. At 1 month the infant was admitted to “rule out sepsis” with high fever, but all the workup was negative. A, Note the thin, sparse, fine hair. B, Severe hypodontia and anterior conical teeth. C, Low nasal bridge, periorbital wrinkling, full forehead, prominent lips, and prominent supraorbital ridges. DNA analysis of the EDA1 gene at the Xq12 region showed the missense mutation and confirmed the clinical diagnosis. The mother and her maternal female relatives have variable and milder clinical features.

upper-to-lower segment ratio; an arm span that exceeds height; and moderate to severe pectus excavatum or carinatum (Fig. 1-34, C). Pes planus and thoracolumbar kyphoscoliosis are other common skeletal features (Fig. 1-34, D). A defect in the suspensory ligaments of the eye is responsible for subluxation of the lens (seen in 50% to 60% by age 10 years), which is usually displaced in an upward direction. Myopia and astigmatism are common, and affected individuals are also at risk for developing glaucoma, cataracts, and retinal detachment in adulthood. Mitral valve prolapse (MVP) may progress to mitral insufficiency (at times associated with arrhythmias). Of great concern is progressive aneurysmal dilatation of the ascending aorta and, less commonly, the thoracic or abdominal aorta. The latter is the major source of morbidity and mortality because it can result in acute dissection and death. Dural ectasia in the lumbosacral region, assessed by computed tomography (CT) or magnetic resonance imaging (MRI) of the spine, is observed in 65% of cases. The presence of a high arched palate is common. The incidence of hernias, both inguinal and femoral, is increased, and patients often have striae of the skin in unusual places such as the shoulder. Although most Marfan individuals are of normal intelligence, an occasional patient may have learning disabilities. The disorder is currently diagnosed primarily on clinical grounds. In addition, family history and multiorgan manifestations are variable and may have age-dependent expressivity.

All the manifestations of this condition are classified as either major or minor diagnostic criteria. The diagnostic criteria for Marfan syndrome (first established in Berlin; Beighton et al, 1988) were revised as the Ghent criteria (De Paepe et al, 1996). These have continued to be revised and the most recent revised Ghent diagnostic criteria were established in 2010 (Loeys et al, 2010). The diagnostic criteria are based on cardiovascular, ocular, and skeletal features, the presence of a dural ectasia, and family history. These revisions have placed an increasing emphasis on the cardinal features of Marfan syndrome. Because it takes time for a number of the major abnormalities to develop or to become clinically evident, a firm diagnosis is generally impossible in early childhood, especially in the absence of a positive family history. The molecular testing of an individual who clinically meets the diagnostic criteria for Marfan syndrome is not usually necessary. Molecular testing is being used more frequently in children with an emerging clinical phenotype, especially in the absence of family history. The recurrence risk for affected individuals to their offspring is 50%. When the diagnosis of Marfan syndrome is strongly suspected or confirmed, patients should be monitored closely during growth spurts for signs of onset and progression of kyphoscoliosis; in addition they should undergo regular ophthalmologic evaluations, and have regular echocardiograms and electrocardiograms. When aortic dilatation is detected,

A

C

B

D

Figure 1-31  Incontinentia pigmenti syndrome. A-C, At 7 weeks of age this patient manifested erythema, and blisters on the trunk and extremities. Hyperkeratotic lesions have already started. This X-linked dominant condition is lethal in males. One third of the patients have psychomotor delays, microcephaly, and seizures, which were not observed in this patient. Mutation(s) in the NEMO gene at Xq28 are encountered in the majority of patients. By 5 months of age the rash was already resolving. D, Rash replaced with hyperpigmentation on the trunk and pale hairless patches or streaks subsequently on the lower limbs. Patient was confirmed to have intragenic microdeletion of the NEMO gene, involving exons 4 through 10.

Figure 1-33  A 4-month-old male with classic features of Treacher Collins syndrome. Note the down-slanted palpebral fissures, malar hypoplasia, malformed auricle, and mandibular hypoplasia. The mutation was identified as a single sequence variation (Nt2897insC) in the TCOF1 gene in the 5q31 region that introduces a premature stop codon.

Figure 1-32  A girl, 3 years and 3 months old, with macrocephaly, macrosomia, and PDD-NOS (pervasive developmental disorder, not otherwise specified). A missense mutation was found in the PTEN gene.

1  |  Genetic Disorders and Dysmorphic Conditions



Table 1-7

Differentials for Connective Tissue Disorders

Diagnosis

Inheritance

Molecular Basis

Stickler syndrome

AD

EDS type IV EDS type VI Beals contractural arachnodactyly Homocysteinemia Arterial tortuosity syndrome MASS phenotype Loeys-Dietz syndrome

AD AR AD

COL2A1 gene COL11A1 gene COL11A2 gene COL9A1 gene COL3A1 gene PLOD1 gene FBN2 gene

AR AR

Defect in cobalamin synthesis SLC2A10 gene

AD AD

Familial aortic aneurysm

AD

Klinefelter syndrome (47,XXY) or triple X syndrome (47, XXX) Fragile X syndrome Shprintzen-Goldberg syndrome

Chromosomal

FBN1 gene TGFBR1 gene TGFBR2 gene ACTA2 gene MYH11 gene Chromosomal

X-linked

FMR1 gene Unknown

AD, autosomal dominant; AR, autosomal recessive; EDS, Ehlers-Danlos syndrome; MASS, mitral valve prolapse, myopia, borderline and non-progressive aortic enlargement, and nonspecific skin and skeletal findings that overlap with those seen in Marfan syndrome.

administration of β-blockers can slow progression by decreasing blood pressure and the force of myocardial contractions. Subacute bacterial endocarditis (SBE) prophylaxis may or may not be indicated for patients with evidence of cardiovascular involvement. Patients also should be cautioned to avoid weight lifting and contact sports. The differential diagnosis of Marfan syndrome includes Loeys-Dietz syndrome; Beals congenital contractural arachnodactyly (Figs. 1-35 through 1-39); homocystinuria; the MASS phenotype (MASS being an acronym for MVP, borderline nonprogressive aortic dilatation, striae and marfanoid skeletal features, without ocular findings); familial ectopia lentis; Klinefelter syndrome (47,XXY), triple X syndrome (47,XXX), and many syndromes characterized by joint hypermobility such as Stickler syndrome and Ehlers-Danlos syndrome types IV and VI; familial thoracic aortic aneurysm and aortic dissection (TAAD); neuromuscular disorders; fragile X syndrome; and some of the rare dysmorphologic entities such as Shprintzen-Goldberg syndrome. Loeys-Dietz syndrome is a more aggressive connective tissue disorder than Marfan syndrome; it is characterized by craniofacial, cutaneous, and skeletal manifestations along Table 1-8

with vascular manifestations; and aneurysms and dissection of the aorta (in the root, thoracic, and/or abdominal regions) and cerebral vessels. Tortuosity of blood vessels and heart defects, involving the bicuspid aortic valves and atrial septal defects, may be observed. Translucent skin and organ rupture, specifically in postpartum females, have been reported. Mutations in transforming growth factor-β receptor type 1 (TGFBR1) and TGFBR2 result in Loeys-Dietz syndrome. Research in the area of therapy has found TGF-β to be involved in the formation of aortic aneurysms. Losartan, an angiotensin II type 1 receptor blocker, inhibited TGF-β in a mouse model of Marfan syndrome (as shown by H.C. Dietz; Habashi et al, 2011), leading to inhibition of aortic growth. These results are promising; treatment of patients with Marfan syndrome may reduce aortic enlargement. At present, double-blind studies are being conducted in adults and pediatric patients to look into treatment with losartan (Fig. 1-40). Ehlers-Danlos Syndrome Ehlers-Danlos syndrome (EDS) is composed of a group of inherited connective tissue disorders, the major features of which consist of hyperextensibility and fragility of the skin and ligamentous laxity with secondary joint hypermobility. Each type stems from a defect in synthesis of type I, III, or V collagen, resulting in decreased tensile strength of connective tissues. Previously divided into types I to XI, it has been reclassified into six major subgroups on the basis of their predominant clinical features; mode of inheritance; and, when known, underlying defect. Table 1-8 presents these along with their estimated incidence. Given limitations of space, we focus on the clinical features of the four most common types. Ehlers-Danlos Syndrome: Classic Type In the classic form of EDS (previously known as subtypes I and II), cutaneous manifestations are especially prominent, although they may have a wide spectrum of severity. Skin hyperextensibility is prominent (Fig. 1-41, A); the texture is smooth and “velvety”; and the skin is abnormally fragile, with easy bruising and tearing. Wound healing is impaired and slower than average, often resulting in the formation of unusually wide atrophic scars that have a thin papery quality, sometimes likened to cigarette paper (see Fig. 1-41, B). When these children incur lacerations necessitating wound closure, use of glue or tape is preferable to sutures because the latter tend to tear away from the fragile skin. Staples are better tolerated for closure of operative incisions, and postoperatively development of incisional hernias is not uncommon. Two features unique to this type are the tendency to form pseudotumors under scars located over bony prominences and to develop subcutaneous fatty tumors over the forearms and shins.

Classification of Types of Ehlers-Danlos Syndrome

Type

Former Type

Mode of Inheritance

Approximate Incidence

Underlying Abnormality

Classic

I and II

AD

1 per 20,000-40,000

Hypermobility Vascular

III IV

AD AD

1 per 10,000-15,000 1 per 100,000-200,000

Kyphoscoliotic Arthrochalasia

VI VIIA and VIIB

AD AD

Rare Very rare

Dermatosparaxis

VIC

AR

Very rare

Abnormal electrophoretic mobility of pro-α1 and pro-α2 chains of type V collagen No specific biochemical defect identified Mutation in COL3A1 gene resulting in structurally abnormal pro-α1 chain of type III collagen, posttranslational overmodification, thermal instability, or increased sensitivity to proteases Deficiency of the collagen-modifying enzyme lysylhydroxylase Mutations resulting in deficient processing of amino-terminal ends of pro-α1 or pro-α2 chains of type I collagen Deficiency of procollagen 1 amino-terminal peptidase

AD, autosomal dominant; AR, autosomal recessive.

23

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

D

Figure 1-34  Marfan syndrome. A and B, This young man has prominent arachnodactyly of both fingers and toes. Note the clubbing due to associated cardiopulmonary problems and the flattening of the arch of his foot. He also has severe pectus carinatum (C) and significant kyphosis and joint contractures (D). Also note his long arms.

A

B

C

Figure 1-35  An adult female presented during the first trimester of pregnancy with a long-standing diagnosis of Marfan syndrome. On clinical evaluation, she had hypertelorism, low-set ears, and bifid uvula. Arachnodactyly, kyphoscoliosis, and marfanoid habitus were encountered. Cardiology evaluation was consistent, with an echocardiogram showing dilatation at the aortic root (with aortic sinus measurement of approximately 4.5 cm) and mitral valve prolapse. Cardiac surgery immediately after delivery was recommended. DNA tests confirmed Loeys-Dietz syndrome due to mutation in the TGFBR1 gene. FBN1 and TGFBR2 analyses were normal.

1  |  Genetic Disorders and Dysmorphic Conditions



Figure 1-36  Infant with Loeys-Dietz syndrome at 3 months of age. Note the retromicrognathia, hypertelorism, low-set ears, and failure to thrive.

A

25

Figure 1-37  The mother has clinical features of Loeys-Dietz syndrome. She has a pathogenic mutation in the TGFBR1 gene. Her infant son, seen here at 5 months of age, is clinically affected and already has a dilated aorta. His mother had undergone valve-sparing aortic root repair on an emergent basis, due to possible dissection complicated by right coronary artery injury and bypass procedure.

C

B

Figure 1-38  A-C, Beals contractural arachnodactyly. Note the crumpled ears, arachnodactyly, and joint contractures. The patient was confirmed to have a missense mutation in the fibrillin II gene (FBN2).

Figure 1-39  Beals syndrome variant. This child was found to have an abnormality of fibrillin-2 secretion in fibroblasts. A, She was tall and had arachnodactyly with contractures. B, Her broad forehead and hypertelorism are physical features that help distinguish her case from classic Beals syndrome and Marfan syndrome.

A

B

26

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Ehlers-Danlos Syndrome: Hypermobility Type

Effects of Losartan on AT1 Signaling Angl ACEi Losartan AT1

TGF ligands

Angll AT2

TGF receptors TSP-1 TGF signaling

Proliferation Apoptosis Fibrosis MMP9

Proliferation Apoptosis Fibrosis MMP2, MMP9

Figure 1-40  Diagram of events mediated by AT1 signaling. ACEi, angiotensinconverting enzyme inhibitor; AngI and AngII, angiotensins I and II; AT1 and AT2, angiotensin II subtypes 1 and 2 receptors; MMP2 and MMP9, matrix metalloproteinases 2 and 9; TGFβ, transforming growth factor-β; TSP-1, thrombospondin-1.

Although usually not as severe as in the hypermobility type, ligamentous laxity and joint hypermobility also are features (see Fig. 1-41, C and D) and predispose to sprains, subluxations, and dislocations, and to early onset of chronic musculoskeletal pain. Hypotonia and gross motor delays are seen in some infants and young children with this type of EDS.

In hypermobility-type EDS, the most common type, ligamentous laxity and attendant joint hypermobility are the major source of symptomatology. All joints, large and small, are affected, and patients are prone to frequent and recurrent subluxations and dislocations, especially of the patella, shoulder, and temporomandibular joints. Chronic limb and joint pain due to the excessive pull placed on periarticular structures, and to dislocations, develops early on and can become increasingly debilitating over time. Cutaneous manifestations vary widely in severity and include a smooth “velvety” texture, hyperextensibility, and easy bruisability. Ehlers-Danlos Syndrome: Vascular Type Vascular-type EDS is the most serious form of EDS because fragility of vascular and visceral tissues accompanies cutaneous and joint abnormalities. Many affected children are born with clubfeet, and they tend to have rather characteristic facial features that include prominent eyes and sunken cheeks (due to decreased subcutaneous facial fat), a thin nose, small chin, and lobeless external ears. Scalp hair is sparse in some. The skin is thin and appears translucent, giving prominence to the underlying venous pattern, especially over the chest and abdomen. Easy bruisability and skin fragility are significant features, and postoperative wound dehiscence is not unusual. Premature aging of the skin over the distal extremities and early development of varicose veins are also seen. Joint hypermobility is present but is limited to the small joints of the fingers and toes.

A

C

B

D

Figure 1-41  Ehlers-Danlos syndrome—classic type. A, Note the marked hyperextensibility of the skin over this child’s arm. B, These widened atrophic scars have the thin papery texture that is characteristic of Ehlers-Danlos syndrome. C and D, Hyperextensibility of the joints of the elbow and fingers is seen as well.



1  |  Genetic Disorders and Dysmorphic Conditions

27

As noted earlier, the feature that makes this type of EDS so serious clinically is the fragility of the walls of medium-size arteries, the intestines, and the uterus. This predisposes to wall rupture with potentially catastrophic results. Arterial and intestinal ruptures are heralded by sudden onset of severe abdominal and/or flank pain, which is promptly followed by signs of shock. Risk of uterine rupture is greatest intrapartum and is associated with significant hemorrhage. Other reported problems include pneumothoraces and development of arteriovenous fistulas. Because the major complications of this form of EDS tend to occur in the third or fourth decade, exact diagnosis in early childhood can be difficult in patients without a positive family history or in those whose other clinical findings are subtle. Ehlers-Danlos Syndrome: Kyphoscoliosis Type Newborns with the kyphoscoliosis form of EDS tend to have severe hypotonia with delayed gross motor development and congenital scoliosis, which is progressive. Some patients develop a marfanoid body habitus with growth. Generalized ligamentous laxity and joint hypermobility may be so severe that the ability to ambulate is lost in the teens or twenties. Osteopenia is seen radiographically, perhaps partly from disuse. Other features include easy bruisability, skin fragility, and formation of atrophic scars. In contrast to other forms of EDS, children with this type have scleral fragility, which places them at risk for globe rupture following even minor trauma. High myopia and microcornea are seen in some. Diagnosis The diagnosis of EDS should be suspected in children who present with unusually distensible skin, especially when atrophic scars are seen, and in those with unusual degrees of joint hypermobility who suffer recurrent joint dislocations. The presence of skin hyperextensibility is best tested over the volar forearm by grasping the skin and pulling until resistance is felt. Evidence of significant joint hypermobility includes the following: • Ability to touch palms to the floor on forward bending • Hyperextensibility of knees and elbows greater than 10 degrees • Ability to appose thumb to the volar forearm • Passive dorsiflexion of the fifth fingers past 90 degrees Finding these and other clinical features described earlier in a child with a positive family history is especially helpful. With the exception of the kyphoscoliotic type, for which a urine test is available, confirmatory diagnostic tests usually require skin biopsy. Depending on type, differential diagnostic considerations may include Marfan syndrome and cutis laxa. Easy bruisability can be mistaken for child abuse. Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a family of genetic connective tissue disorders characterized predominantly by brittle bones. The vast majority of patients have OI type I, II, III, or IV, all of which involve mutations in the COL1A1 gene and/or COL1A2 gene that either reduce the amount or alter the structure of type I collagen. A description of some of the many causative mutations and their structural consequences is presented in an earlier section (The Nature of Genes and Singlegene Disorders). Clinical features are presented in Chapter 21. Other, rarer forms of OI include types V through VIII. Of these, OI type V is an autosomal dominant disorder, and OI type VII is autosomal recessive; the mode of inheritance of OI type VI

Figure 1-42  Clinical features suggestive of type III osteogenesis imperfecta (OI); collagen screen results on skin fibroblasts are consistent with type III or type IV OI. The patient would not consider DNA diagnosis. He is wheelchair bound but lives independently.

is unclear, but patients with OI type VI have rhizomelic shortening of the limbs. Figures 1-42 through 1-44 show examples of defects in collagen synthesis.

ASSOCIATIONS As noted earlier, an association is a pattern of malformations that occurs together too often to be the result of chance alone, but for which no specific cause has yet been identified. This results in a spectrum of anomalies with a wide and variable clinical spectrum.

FAVA (Facio-Auriculo-Vertebral-Anomalies) Spectra FAVA encompasses a spectrum of hemifacial microsomia and Goldenhar syndromes resulting from developmental defects of the first and second branchial arches. Varied facial defects observed include hypoplasia of the maxilla and/or mandible, a lateral cleft at the angle of the mouth resulting in macrostomia, microtia and preauricular tags and/or pits, deafness, and tongue and palatal involvement with abnormal functioning of the palate. Vertebral defects are predominantly in the cervical region, observed as a short neck and/or torticollis. Radiologic imaging is able to decipher underlying hemivertebrae and hypoplasia of the vertebrae in the cervical region but may involve the thoracic and lumbar regions. Microphthalmia and/or epibulbar, eyelid coloboma are observed as infrequent features. Congenital heart defects include ventricular septal defect, tetralogy of Fallot, and coarctation of the aorta. Renal defects are occasional features and may present as ectopic, fused kidney or renal agenesis as well as multicystic dysplastic kidney. Ureteral aberrations may be associated as well. CNS involvement is an occasional feature. Intelligence is usually preserved but may be compromised in association with microphthalmia and CNS anomalies. Genetic delineation of etiology is at a research level and clinical cases are not confirmed by mutation analyses. FAVA may overlap with clinical findings of VATER association (see later) and branchio-oto-renal syndrome, also known as Melnick-Fraser syndrome.

28

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 1-44  A grandfather and granddaughter with Stickler syndrome type II. Grandfather has high myopia and status post–unilateral retinal detachment. Grandfather was confirmed to have a frameshift mutation in the collagen II gene, confirming Stickler syndrome type II. The mutation was confirmed in his 5-year-old granddaughter; note the early-onset high myopia and midface hypoplasia. She also had generalized joint laxity. She had surgery for cleft palate and is under surveillance by audiology for conductive hearing loss. Figure 1-43  Stickler syndrome: short stature, early-onset myopia, midface hypoplasia, submucous cleft palate, sensorineural hearing loss, mild skeletal dysplasia, and joint pain. A missense mutation in the COL2A1 gene confirmed the clinical diagnosis and is consistent with type I Stickler syndrome.

CHARGE Association CHARGE is an acronym for a nonrandom association of features including coloboma of the retina, less commonly the iris; heart abnormalities; atresia of the choanae; retarded growth and mental development; genital hypoplasia in males; and ear anomalies that can include deafness. The minimal diagnostic criteria should include abnormalities in four of the six categories, at least one of which must be coloboma or choanal atresia. Cleft lip and/or palate and renal abnormalities are sometimes found. The association includes congenital heart disease, particularly abnormalities of the aortic arch, right

subclavian artery, or ventricular septal defect; agenesis or hypoplasia of the thymus with decreased T-cell production and impaired cell-mediated immunity; partial or less often complete absence of the parathyroid glands, manifest by hypocalcemia and neonatal tetany; and often a facies characterized by wide-spaced, slightly down-slanting palpebral fissures, anteverted nares, a short philtrum, and small, dysmorphic ears (Fig. 1-45). Infants with CHARGE association often die early as a result of their congenital anomalies, but many survive to adulthood. Although developmental delay exists, the IQ range is broad (15 mutations described; the most common involves tRNALeu Point mutations in mitochondrial component of complex V Nuclear mutation in thymidine phosphorylase; impairs mitochondrial DNA repair mechanisms Mutations in mitochondrial component of complex I Multiple mitochondrial DNA deletions

Multiple mitochondrial DNA deletions Mitochondrial tRNALeu Mitochondrial ribosomal DNA mutations Defects in nuclear or mitochondrial genes in complexes I, II, and IV; PDH; PC; NARP; and others

CPEO, chronic progressive external ophthalmoplegia; NARP, neuropathy, ataxia, and retinitis pigmentosa; PC, pyruvate carboxylase; PDH, pyruvate dehydrogenase.

38

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

important to note that in some single-gene disorders, including RCDP and ARD, very long–chain fatty acid levels may be normal. However, plasmalogens are abnormal in RCDP, and phytanic acid is elevated in ARD. Thus, it is reasonable to test for at least two peroxisomal metabolites when searching for these disorders. DNA analysis is available for a number of peroxisome biogenesis or single-gene disorders.

Figure 1-55  Infant with Zellweger syndrome. Note the hypotonia, failure to thrive, and large forehead.

and other processes. Peroxisomal diseases fall into two major categories: those that interfere with assembly of the peroxisome itself (thus affecting all enzyme functions), and those that affect a single enzyme. Disorders of Peroxisome Biogenesis A number of mutations in 12 different peroxisome assembly (PEX) genes have been identified, leading to a continuum of phenotypes. The most severe of these disorders is Zellweger syndrome (Fig. 1-55). Infants with Zellweger syndrome (cerebrohepatorenal syndrome) typically have dysmorphic features often suggestive of Down syndrome, hepatomegaly with liver dysfunction, and profound hypotonia (see Table 1-12). The disorder is typically fatal in infancy or early childhood. Neonatal adrenal leukodystrophy and infantile Refsum disease are less severe phenotypes. They present with variable severity of developmental delay, hearing loss, vision impairment, liver dysfunction, coagulopathy, and hypotonia and may be slowly progressive (see Table 1-12). Mutations in PEX7 can lead to a unique phenotype of proximal limb shortening (rhizomelia), chondrodysplasia punctata, and profound growth failure and mental retardation, known as rhizomelic chondrodysplasia punctata (RCDP). Single-Gene Disorders Numerous disorders of single genes that act in the peroxisome have been described. One of the most common is X-linked adrenoleukodystrophy. This disorder predominantly affects males and presents in the first decade of life as a progressive leukodystrophy, or in adulthood as a demyelinating disorder (adrenomyeloneuropathy) or Addison’s disease. The movie “Lorenzo’s Oil” increased public recognition of this disorder and the quest for a treatment. Treatment with dietary very long–chain fatty acid restriction and supplementation with erucic acid and oleic acid (“Lorenzo’s oil”) may be of some benefit in limiting progression if given presymptomatically. Another single-gene disorder, adult Refsum disease (ARD), presents with retinitis pigmentosa, ataxia, ichthyosis, and anosmia, and is caused by a defect in the metabolism of phytanic acid. Diagnosis Most peroxisomal assembly or single-gene disorders can be diagnosed by evaluating plasma very long–chain fatty acids, preferably supplementing testing with red cell plasmalogens, phytanic acid, pipecolic acid, or pristanic acid. (Note: Phytanic acid is derived from the diet, and thus young infants or those on elemental diets may have falsely normal levels). It is

Lysosomal Disorders Lysosomes are membrane-bound cytoplasmic organelles that serve as the digestive or recycling plants of cells, their major purposes being to break down cellular waste products and debris and to degrade macromolecules that are no longer needed into smaller components. They perform this function with an array of hydrolytic enzymes that degrade their target molecules in a stepwise fashion. Once the process of degradation is completed, the residual material is transported to the cytoplasm for recycling (as new molecular building blocks) or to the cell membrane for removal. A mutation that results in malfunction of a lysosomal enzyme leads to accumulation of substrate, resulting in the term storage disorder. Over time the volume of the stored undegraded substrate increases, progressively distending the lysosome, and ultimately this impairs cell function. Disorders of Trafficking or Single Lysosomal Enzymes After translocation and posttranslational modifications, lysosomal enzymes are targeted to the lysosome by specific target sequences. Defects in enzyme trafficking to the lysosome, or in single lysosomal enzymes, result in lysosomal storage disorders. Disorders are classified according to the nature of the accumulated material. More than 40 lysosomal disorders have been described, their unifying characteristic being a failure to degrade a specific component of cellular waste. Defects are classified as defects of degradation of mucopolysaccharides, oligosaccharides, sphingolipidoses, mucolipidoses, and others (see Table 1-13). Stored lysosomal material in tissues can result in coarsening of facial features, hepatomegaly, splenomegaly, bone deformities (dysostosis multiplex), leukodystrophy, and other features. Among the most severe lysosomal disorders is I-cell disease, in which many lysosomal enzymes lack the proper sequence for targeting to the lysosome, such that certain lysosomal enzymes are elevated in plasma but are not present within the lysosome. This disorder has a very early prenatal or early infantile onset and is associated with early mortality. Mucopolysaccharidoses The mucopolysaccharidoses are among the best known lysosomal storage disorders. They are a group of disorders of degradation of glycosaminoglycans, long chains of repeating disaccharide units that are synthesized by connective tissue cells as structural components of connective tissue, bone, cartilage, synovial fluid, skin, cornea, and the reticuloendothelial system. Seven major types have been identified, some with multiple subtypes. Hurler syndrome (type IH) is the prototypical disorders (Fig. 1-56). In the most severe form, onset is between 6 and 24 months with growth retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, cardiac valve disease, and other findings. Enzyme replacement therapy can help temporize treatment, but the only significant treatment for infantile onset disease is by bone marrow transplantation, which stabilizes the disorder but does not improve bony abnormalities. Progressively less severe forms include Hurler-Scheie and Scheie syndromes, with increasing residual enzyme activity and decreasing CNS and systemic involvement. Enzyme replacement therapy provides long-term benefits, although bone and joint disease remain

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A

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B

Figure 1-56  Hurler syndrome. A, The coarsening of facial features characteristic of this disorder includes prominence of the forehead, a flattened nasal bridge, a short broad nose, and widening of the lips. Features appear puffy due to thickening of the skin. B, Progressive joint stiffness and contractures lead to clawing of the hand.

prominent and heart valve damage can continue to progress. Morquio syndrome is associated with sparing of cognition, but presents with typical bony dysplasia (Fig. 1-57). Diagnosis Diagnosis of lysosomal disorders typically begins with clinical suspicion, often with assay of urinary mucopolysaccharides or oligosaccharides, specific plasma or fibroblast enzyme assays, or DNA studies depending on the suspected disorder. A complete discussion of all of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and mucolipidoses is beyond the scope of this chapter but is available in texts dedicated to metabolic disorders.

Figure 1-57  A 5-year-old boy with Morquio syndrome. Urine testing for mucopolysaccharidosis (MPS) showed elevated keratan sulfate.

Disorders of Energy Metabolism: Mitochondrial Disorders The mitochondria are the sites of energy metabolism. Numerous disorders of energy metabolism are described, with their underlying pathology as insufficient availability of energy to tissues. Thus, the tissues and organs most affected by mitochondrial dysfunction are those with high energy demands, particularly neural, muscular, and ocular. Mitochondria are membrane-bound cytoplasmic organelles that, in essence, serve as the power plants of cells. Because all of one’s mitochondria are derived from those present in the oocyte (those of the sperm having been destroyed on fertilization), all mitochondrial DNA (mtDNA) is inherited from one’s mother. However, most proteins that act in the mitochondria are nuclear in origin; they are transported into the mitochondria, where they carry out their intended function. Thus most “mitochondrial” disorders actually follow a mendelian pattern of inheritance. However, as each mitochondrion also contains its own separate genome with a maternally inherited, unique DNA code (including 13 genes that function in oxidative phosphorylation as well as its own transfer RNA and replication mechanism), a few mitochondrial disorders have maternal, not nuclear, inheritance. Lactic Acidosis Under ordinary circumstances, pyruvate enters the Krebs cycle either through conversion to acetyl-CoA by pyruvate dehydrogenase (PDH), or through conversion to oxaloacetate by pyruvate carboxylase (PC) (see Fig. 1-54). The NADH created in the Krebs cycle is then passed to the electron transport chain for oxidative phosphorylation and the production of ATP. The metabolism of 1 molecule of glucose creates a net of 36 ATP molecules. When oxidative phosphorylation is insufficient to meet the body’s energy needs, pyruvate is diverted to lactate, a conversion that results in a net of only two ATP. Lactic acidosis occurs when lactate builds up, and is most commonly secondary to shock, hypoxia, or exercise beyond the body’s aerobic capacity. Secondary lactic acidosis can also be caused by tissue hypoxia secondary to use of a tourniquet or excessive crying, or from prolonged storage of room temperature blood samples in a Vacutainer. Secondary elevation of lactate from poor conditions of specimen drawing or handling can lead to invasive and unnecessary testing and procedures, and can be avoided by use of free-flowing or arterial specimens, avoiding

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multiple draw attempts, and rapid transport of the immediately iced specimen to the laboratory. Pyruvate can also be converted into the amino acid alanine. The presence of elevated alanine indicated by plasma or serum amino acid analysis, and/or the presence of elevated lactate or pyruvate on urine organic acid analysis, is suggestive of chronic lactic acidosis even if a plasma lactate measurement is within normal limits. In some cases, lactic acidosis is not secondary to external factors, but is caused by a primary disorder of energy production. Disorders of primary lactic acidosis usually occur in the metabolism of pyruvate, the Krebs cycle, or during oxidative phosphorylation, and are often referred to broadly as mitochondrial disorders. Disorders of Pyruvate Metabolism Pyruvate Dehydrogenase Deficiency Pyruvate is converted to acetyl-CoA by the enzyme pyruvate dehydrogenase complex (PDH or PDC) (see Fig. 1-54). PDH is composed of at least four proteins: E1α, E1β, E2, and E3. Defects are most common in the E1α component. The gene encoding this enzyme component is X-linked, but defects in the enzyme are commonly inherited in an autosomal dominant pattern, and thus the number of affected girls with de novo mutations is nearly equal to the number of affected boys; female gender should therefore not rule out this diagnosis. PDH deficiency results in a wide range of effects of varying severity, in some cases manifesting as ataxia and seizures or mild to moderate developmental delay. However, more severe forms can present with lactic acidosis and structural abnormalities of the CNS attributable to prenatal cellular death from energy deficiency, ranging from agenesis of the corpus callosum to profound hydrocephalus. Pyruvate Carboxylase Deficiency Pyruvate carboxylase (PC) deficiency can present with mild to severe keto-lactic acidosis, hyperammonemia, and other problems, and can be fatal in early life, or can present more chronically with intermittent keto-lactic acidosis during fasting. Either PDH or PC deficiency (as well as other oxidative phosphorylation disorders) can present as Leigh’s disease, a phenotype of progressive cystic degeneration of the basal ganglia and the respiratory centers that reflects profound impairment of energy production in the brain. Infants with profound disorders of pyruvate metabolism sometimes have nonspecific dysmorphic features such as a long philtrum and tented upper lip, probably due to facial hypotonia. Disorders of the Krebs Cycle Primary disorders of the Krebs cycle are rare, but are typically associated with specific findings on urine organic acid analysis. The presence of small to modest amounts of Krebs cycle intermediates on urine organic acid analysis can be normal in the first year of life. The presence of large elevations or persistent excretion of Krebs cycle intermediates in the urine can signal a disorder of oxidative phosphorylation. Disorders of Oxidative Phosphorylation Oxidative phosphorylation (also known as the electron transport chain) refers to the process of production of energy (ATP). It takes place in the mitochondria using both nuclearly and mitochondrially encoded enzymes. The enzymatic functions are grouped into complexes. Complex I is composed of more than 40 different enzymes, of which 7 are mitochondrially encoded. Although the vast majority of proteins in other complexes are also nuclearly encoded, mitochondrially encoded proteins are also present in complex III (one), complex IV

(three), and complex V (two). A number of defects in the various complexes, both nuclear or mitochondrially encoded, present with a variety of symptoms including developmental delay, failure to thrive, myopathy, hypotonia, ptosis, ophthalmoplegia, hepatopathy, encephalopathy, nephropathy, pigmentary retinopathy, and/or Leigh’s disease. Nuclear Mutations Most mitochondrial disorders are due to mutations in nuclearly encoded proteins, and are inherited in a mendelian pattern. DNA testing is available for many of these disorders, particularly for complex I and IV deficiency and for various gene mutations responsible for Leigh’s disease. There are also some nuclear genes involved in mitochondrial replication that lead to aberrant mitochondrial replication and/ or mitochondrial depletion (e.g., Alpers’ syndrome, caused by defects in the gene encoding DNA polymerase subunit γ [PolG1], which results in mitochondrial depletion and is associated with liver disease and cerebral degeneration). The TAZ gene is an X-linked gene encoding cardiolipin, a component of the inner mitochondrial membrane. Mutations in TAZ cause Barth syndrome, an X-linked disorder causing infantile cardioskeletal myopathy (commonly non-compaction) and neutropenia. Mitochondrial Point Mutations Mutations in the mitochondrial genome are also a cause of mitochondrial dysfunction and are maternally inherited. These mutations can occur in any of the 13 mitochondrial genes involved in oxidative phosphorylation, or can also occur in the transfer RNA, ribosomal RNA, or replicative machinery. Note that whereas each cell contains only one nucleus housing two copies of the genome, each cell also contains multiple mitochondria, and each mitochondrion contains multiple copies of the mitochondrial genome; because of this, nuclear and mitochondrial inheritance patterns are different. Thus individuals can have multiple copies of both wild-type and mutated mitochondrial genomes coexisting in a single mitochondrion or in a single cell; this is known as heteroplasmy. There is a threshold effect at which point the number of mutated mitochondria becomes sufficient to affect the function of the cell, tissue, or organ. It is therefore possible for syndromic mitochondrial mutations to be maternally inherited in multiple family members, but symptomatic only in those in whom the threshold is reached. Mitochondrial point mutations can present with variable severity. In adults they often appear in recognizable syndrome patterns. In children they may follow a specific phenotype, but can also be multisystemic and less predictable. One example of a recognizable phenotype is MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), most commonly due to a specific point mutation in the mitochondrial transfer RNA for leucine (tRNALeu; see Table 1-14). Other common mitochondrial syndromes associated with point mutations are listed in Table 1-14 as well. In contrast to vascular strokes, strokes due to mitochondrial disease do not typically follow a watershed pattern. Instead, they represent cell death from energy failure rather than blood flow abnormalities. Metabolic strokes can occur anywhere in the brain, although the highest energy-requiring parts of the brain (such as the basal ganglia) are common locations. Evaluation of a Patient with Suspected Mitochondrial Disease Traditionally, a patient suspected of having a mitochondrial disease undergoes biopsy of an apparently affected organ (typically muscle) for analysis of the oxidative phosphorylation complexes. However, the expanding availability of testing

1  |  Genetic Disorders and Dysmorphic Conditions



for mutations in nuclear and mitochondrial genes has created an evolving testing strategy. A testing algorithm can be linked from the Mitochondrial Medicine Society website (http:// www.mitosoc.org/blogs/diagnosis), with the full algorithm currently available at the Baylor College of Medicine Medical Genetics Laboratories website (http://www.bcm.edu/ geneticlabs/; under “Resources” tab). In some cases, diagnosis can be reached on the basis of guided testing of blood samples, sparing patients an invasive biopsy.

Other Inborn Errors of Metabolism A number of other inborn errors of metabolism have been identified. These include disorders of metal metabolism (e.g., Menkes disease, Wilson’s disease, and others), transport defects (e.g., cystinuria, Hartnup disease), disorders of protein glycosylation (CDG; see below), disorders of cholesterol biosynthesis/sterol metabolism (e.g., Smith-Lemli-Opitz syndrome and others), disorders of biotin and other vitamins, disorders of purines and pyrimidines (e.g., Lesch-Nyhan syndrome), and others. Menkes Disease Menkes disease is one disorder of metal metabolism. Failure to absorb copper in the intestine leads to systemic copper deficiency and impairment of copper-dependent mitochondrial enzymes. The disorder is X-linked (the ATP7A gene on the long arm of the X chromosome), and thus most affected patients are male. The disorder most commonly presents in infancy with loss of milestones, seizures, mental retardation, tortuous cerebral arteries, sagging facial skin, and weakened bones with fractures that may raise concern for child abuse until the proper diagnosis is made. Hair is coarse and sparse, classically referred to as “kinky.” The life span is greatly shortened, to only a few years. Parenteral copper administered to presymptomatic boys may improve outcome, but seems of minimal to no benefit once symptoms have developed (Fig. 1-58).

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Congenital Disorders of Glycosylation Congenital disorders of glycosylation (CDG) are a group of disorders resulting in abnormal posttranslational glycosylation of proteins. To date more than 15 subtypes have been described, each corresponding to an enzymatic step in the protein glycosylation pathway. The most common is CDG type Ia. Typical features include abnormal fat pads on the pubis and over the buttocks, inverted nipples, strabismus, cerebellar atrophy, and failure to thrive. Fatal systemic disease including liver disease can be seen in some cases; others tend to develop ataxia and stroke-like episodes with age. Other subtypes can present with varying features including protein-losing enteropathy, dysmorphic features, and various multisystem presentations. Diagnosis is achieved by noting an abnormal ferritin isoelectric focusing pattern (caused by abnormalities in posttranslational sialic acid residues). This disorder is likely underappreciated and should be considered in any case of multisystem genetic symptoms (Fig. 1-59). Disorders of Sterol Metabolism A number of disorders are now associated with various defects in the biosynthesis of cholesterol. Many of these were first described as dysmorphic syndromes before the underlying biochemical abnormality was identified. The prototype disorder is Smith-Lemli-Opitz syndrome. Infants with Smith-Lemli-Optiz syndrome have a defect in the sonic hedgehog gene (Fig. 1-60). This gene is involved in limb formation and cholesterol biosynthesis. The biochemical error is a block in the final step of cholesterol formation, with deficiency of cholesterol and accumulation of the precursor 7-dehydrocholesterol. Typical dysmorphic features include upturned nose, low-set ears, and characteristic clenched hands. Affected patients typically have syndactyly of the second and third toes, and can have polydactyly, presumably a direct effect of the gene defect. Some phenotypic findings, such as undervirilization of males, are attributable to cholesterol deficiency causing deficiency of cholesterol-based steroid

B

A Figure 1-58  A and B, Menkes syndrome associated with seizures, hypotonia, hypopigmentation, global delays, and low serum copper and ceruloplasmin levels. DNA testing showed a splicing defect in the ATP7A gene at Xq13.3 region, confirming the clinical finding.

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Figure 1-61  Patient with methylmalonic acidemia; note the prominent, simple ears; hypotonia; and midfacial hypoplasia.

A

lines of Blaschko in infancy that can change into ichthyosis, scarring alopecia, and pigmentary abnormalities.

B Figure 1-59  A, Inverted nipples and B, unusual fat distribution on the buttocks seen in some patients with congenital disorders of glycosylation.

hormones. In some cases CNS findings improve with cholesterol supplementation. There are a number of other disorders in other steps in cholesterol biosynthesis that have various physical and developmental findings. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome) is believed lethal in males and is associated with mutations in sterol isomerase (emopamil-binding protein; EBP) in females. This results in elevated levels of 8-dehydrocholesterol and 8(9)-cholesterol. Findings include chondrodysplasia punctata, asymmetric limb shortening, scoliosis, and scaly erythematous rash along the

Inborn Errors of Metabolism and Dysmorphic Features Some metabolic disorders, particularly CDG and sterol biosynthesis disorders, were originally described as dysmorphic syndromes before the biochemical defect underlying the disorder was understood. The presence of dysmorphic features does not necessarily rule out an underlying metabolic error. As previously noted, infants with Zellweger syndrome often have facial and tone characteristics suggestive of Down syndrome (although the hepatomegaly and other features are distinguishing). Chondrodysplasia punctata can have various metabolic causes, including peroxisomal (severe rhizomelic form with failure to thrive and systemic disease) or sterol (X-linked dominant chondrodysplasia punctata). Children with organic acidemias and children with disorders of energy metabolism are often reported to have “mitochondrial facies” including nonspecific features possibly caused by poor muscle tone such as midfacial hypotonia and prominent ears (Fig. 1-61). Patients with a variety of lysosomal storage diseases often are described as having “coarse” facial features, likely attributable to cellular accumulation of lysosomal material. New research is adding to the list of dysmorphic syndromes having an underlying metabolic etiology, and clearly the presence of dysmorphic features should not necessarily rule out a metabolic disorder.

NEWBORN SCREENING FOR GENETIC DISORDERS Newborn screening began in the mid-1960s for phenylketonuria when an inexpensive test became available (Robert Guthrie’s bacterial inhibition assay, performed with a few drops of

Figure 1-60  Smith-Lemli-Opitz syndrome. A, Note the anteverted nostrils, low-set ears, small chin, and clenched hand. B, Hypospadias, cryptorchidism, or ambiguous genitalia as shown here may also be seen. (Courtesy W. Tunnessen, MD.)

A

B

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Table 1-15

Secretary’s Advisory Committee on Heritable Diseases of Newborns and Children Recommended Uniform Screening Panel: Primary and Secondary Target Disorders

Core Conditions

Secondary Conditions

Propionic acidemia Methylmalonic acidemia and cobalamin A, B Isovaleric acidemia 3-MCC deficiency 3-Hydroxy-3-methylglutaric (HMG) aciduria β-Ketothiolase deficiency Glutaric acidemia type I Carnitic uptake/transporter defect Medium-chain acyl-CoA dehydrogenase deficiency Very long–chain acyl-CoA dehydrogenase deficiency Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Trifunctional protein deficiency Argininosuccinic aciduria Citrullinemia type I Maple syrup urine disease Homocystinuria Classic phenylketonuria Tyrosinemia type I Primary congenital hypothyroidism Congenital adrenal hyperplasia Sickle cell disease Sickle-beta thalassemia Sickle-C disease Biotinidase deficiency Critical cyanotic congenital heart disease Cystic fibrosis Classic galactosemia Hearing loss Severe combined immunodeficiencies

Methylmalonic acidemia with homocystinuria (Cbl C, D) Malonic acidemia Isobutyrylglycinuria 2-Methylbutyrylglycinuria 3-Methylglutaconic aciduria 2-Methyl-3-hydroxybutyric aciduria Short-chain acyl-CoA dehydrogenase deficiency Medium/short-chain L-3-hydroxyacylCoA dehydrogenase deficiency Glutaric acidemia type II Medium-chain ketoacyl-CoA thiolase deficiency 2,4-Dienoyl-CoA reductase deficiency Carnitine palmitoyltransferase type I deficiency Carnitine palmitoyltransferase type II deficiency Carnitine acylcarnitine translocase deficiency Argininemia Citrullinemia type II Hypermethioninemia Benign hyperphenylalaninemia Biopterin defect in cofactor synthesis Biopterin defect in cofactor regeneration Tyrosinemia type II Tyrosinemia type III Other hemoglobinopathies Galactoepimerase deficiency Galactokinase deficiency T-cell–related lymphocyte deficiencies

Note 1: For an updated list see http://www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/recommendedpanel/index.html. Note 2: Primary care physicians, other pediatric subspecialties, and family practitioners can access the algorithms for the responsibilities as well as immediate management by following the AAP policy statement on newborn screening (2008). Newborn Screening Authoring Committee: Newborn screening expands: recommendations for pediatricians and medical homes— implications for the system. Pediatrics 121:192-217, 2008. Note 3: A reference that the clinicians may find helpful for newborn screening is Contemporary Pediatrics, 28:38-47, 2011.

blood on filter paper), and it was demonstrated that early detection and treatment were a cost-effective way to prevent mental retardation. Thyroid testing and other disorders were added over the years. Newborn screening for common genetic and metabolic diseases has been revolutionized by the development of tandem mass spectrometry. This technique, requiring only a dried blood spot from the newborn, provides an inexpensive mechanism by which to test for a much larger range of inherited metabolic disorders. In the United States, newborn screening is conducted and regulated by the individual states, and some states now screen for more than 50 disorders. Disorders detectable by newborn screening include inborn errors of metabolism, hemoglobinopathies, cystic fibrosis, acquired immune deficiency, severe combined immuno­ deficiency, hearing loss, hypothyroidism, and congenital adrenal hyperplasia. The American College of Medical Genetics has published information sheets for physicians on these disorders (available at the website http://www.acmg.net/AM/ Template.cfm?Section=NBS_ACT_Sheets_and_Algorithms_ Table&Template=/CM/HTMLDisplay.cfm&ContentID=5072).

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This site provides information about the disorders and recommended diagnostic testing. The technical ability to diagnose genetic and metabolic disorders by newborn screening has outpaced our understanding of the natural history and optimal treatment of some of these disorders. In 2003 the Secretary of Health convened the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children to develop advisory guidelines for newborn screening. The committee developed a list of primary target disorders based on evidence-based guidelines, as well as a list of secondary disorders, which are routinely detectable as part of the testing process for primary target diseases (Table 1-15). New disorders are added to the primary target list after an evidence-based review process. At present, states are not obligated to follow the committee’s guidelines. It is important to remember that newborn screening is a screening program, not a diagnostic program. Not all inborn errors of metabolism are detectable by newborn screening (e.g., some urea cycle defects), and as a screening program it does not have 100% sensitivity. Thus no disorder should be considered “ruled out” in a symptomatic child because of a normal newborn screen result. Screen-positive infants are referred for diagnostic testing. Some cases require a repeat screen, but in some cases results are sufficiently concerning as to prompt a call to the nearest expert referral center and/ or the child’s primary care provider for emergency evaluation.

ACKNOWLEDGMENTS The authors thank members of the medical genetics staff who worked tirelessly to help accumulate the clinical pictures; and the families who graciously consented to allow photographs to be taken to advance teaching and education. References Beighton P, de Paepe A, Danks D, et al: International nosology of heritable disorders of connective tissue, Berlin, 1986, Am J Med Genet 29:581–594, 1988. De Paepe A, Devereux RB, Dietz HC, et al: Revised diagnostic criteria for the Marfan syndrome, Am J Med Genet 62:417–426, 1996. Habashi JP, Doyle JJ, Holm TM, et al: Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism, Science 332, 361–365, 2011. Loeys BL, Dietz HC, Braverman AC, et al: The revised Ghent nosology for the Marfan syndrome, J Med Genet 47:476–485, 2010. Miller DT, Adam MP, Aradhya S, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet 86:749–764, 2010. Ng SB, Bigham AW, Buckingham KJ, et al: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome, Nat Genet 42:790–793, 2010. Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints, Am J Hum Genet 49:995–1013, 1991.

Bibliography Ballif BC, Theisen A, McDonald-McGinn DM, et al: Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2, Clin Genet 74:469–475, 2008. Bejjani BA, Saleki R, Ballif BC, et al: Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 134:259–267, 2005. Buyse ML, editor: Birth defects encyclopedia, Cambridge, Mass, 1990, Blackwell Scientific. Cooley WC, Graham JM: Down syndrome—an update and review for the primary pediatrician, Clin Pediatr 30:233–253, 1991. Duker AL Ballif BC, Bawle EV, et al: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome, Eur J Hum Genet 18:1196–1201, 2010. Epstein CJ: Down syndrome (trisomy 21). In Scriber CR, Beaudet AL, Sly WS, et al, editors: The metabolic and molecular basis of inherited disease, ed 8, New York, 2001, McGraw-Hill, pp 1223–1256.

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Francke U: Prader-Willi syndrome: chromosomal and gene aberrations, Growth Genet Horm 10:4–7, 1994. Gorlin RJ, Cohen MM Jr, Hennekam RCM: Syndromes of the head and neck, ed 4, New York, 2001, Oxford University Press. Graham JM Jr: Smith’s recognizable patterns of human deformation, ed 2, Philadelphia, 1988, WB Saunders. Hook EB: Chromosome abnormalities: prevalence, risks, and recurrence. In Brock BJH, Rodeck CH, Ferguson-Smith MA, editors: Prenatal diagnosis and screening, New York, 1992, Churchill Livingstone, pp 351–392. Johns DR: Mitochondrial DNA and disease, N Engl J Med 333:638–644, 1995. Jones KL: Smith’s recognizable patterns of human malformation, ed 6, Philadelphia, 2006, Elsevier Saunders. Lubs HA: A marker X chromosome, Am J Hum Genet 21:231–244, 1969. Manning M, Hudgins L: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosome abnormalities, Genet Med 12:742–745, 2010. Nussbaum RL, McInnes RR, Willard HF: Thompson and Thompson genetics in medicine, ed 6, Philadelphia, 2004, WB Saunders. Online Mendelian Inheritance in Man (OMIM): McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Md) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Md), 2000. Available from http://www.ncbi.nlm.nih.gov/ omim/ Patton MA: Noonan syndrome: a review, Growth Genet Horm 10:1–3, 1994. Robinson BH: Lactic acidemia: disorders of pyruvate carboxylase and pyruvate dehydrogenase. In Scriber CR, Beaudet AL, Sly WS, et al, editors: The metabolic and molecular basis of inherited disease, ed 8, New York, 2001, McGraw-Hill, pp 2275–2295. Ryan AK, Goodship JA, Wilson DI, et al: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study, J Med Genet 34:798–804, 1997. Shepard TH, Lemire RJ: Catalog of teratogenic agents, ed 11, Baltimore, 2004, Johns Hopkins University Press. Stalker HJ, Williams CA: Genetic counseling in Angelman syndrome: the challenges of multiple causes, Am J Med Genet 77:54–59, 1998. Stevenson RE, Hall JG, Goodman RM, editors: Human malformations and related anomalies, ed 2. New York, Oxford University Press, 2006. Sutherland GR: Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium, Science 197:265–266, 1977.

Sutherland GR, Gecz J, Mulley JC: Fragile X syndrome and other causes of X-linked mental handicap. In Rimoin DL, O’Connor JM, Pyeritz RE, et al, editors: Emery and Rimoin’s principles and practice of medical genetics, ed 5, Philadelphia, 2006, Churchill Livingstone, pp 2801–2826. Trask BJ: Fluorescence in situ hybridization, Trends Genet 7:149–154, 1991. Wenger SL, Steele MW, Boone LY, et al: “Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents, Am J Med Genet 55:47–52, 1995. Willard HF, Ferguson-Smith MA, Goodfellow PN, et al: Chromosomes and autosomes. In Scriver CR, Beaudet AL, Sly WS, et al, editors: The metabolic and molecular bases of inherited disease, New York, 1995, McGraw-Hill. Wincent J, Anderlid BM, Lagerberg M, et al: High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting, Clin Genet 79:147–157, 2011.

General Metabolic References Fernandes J, Saudubray J-M, van den Berghe G, et al: Inborn metabolic diseases, diagnosis and treatment, ed 4, Heidelberg, 2006, Springer Medizin Verlag. GeneTests: Medical Genetics Information Resource (database online): © University of Washington, Seattle. 1993-2011. Available from www.genetests.org Lysosomal Disease Program: Educational resource for people dealing with lysosomal storage disorders (LSDs). © 2009 Massachusetts General Hospital. Available from www.mghlysosomal.org Mayo Clinic Health Information Site (official website of the Mayo Clinic): © 1998-2011 Mayo Foundation for Medical Education and Research. Available from www.mayoclinic.com National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH): Online resource for disorders of the brain and nervous system. Available from www.ninds.nih.gov Nyhan WL, Barshoop BA, Ozand PT: Atlas of metabolic diseases, ed 2, New York, 2005, Oxford University Press. Scriver CR, Beaudet AL, Sly WS, et al, editors: Metabolic and molecular bases of inherited disease, ed 8. Available from www.ommbid.com. New York, 2004, McGraw-Hill.

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e-Figure 1-1  Microarray characterization of 1p31 and 22q11.21 deletions in a single proband. A, Microarray plot showing single-copy loss of 89 oligonucleotide probes from the short arm of chromosome 1 at 1p31. Probes are ordered on the x axis according to physical mapping positions, with the most distal p-arm probes to the left and the most distal q-arm probes to the right. Values along the y axis represent log2 ratios of patient : control signal intensities. B, Microarray plot showing single-copy loss of 205 oligonucleotide probes from the long arm of chromosome 21 at 21q11.21. Probes are arranged as in (A), with the most proximal q-arm probes to the left and the most distal q-arm probes to the right. Results are visualized with Genoglyphix software. (Signature Genomics, Spokane, WA). (Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

A

B

e-Figure 1-2  A, Fluorescence in situ hybridization (FISH) showing a deletion at 1p31.1. Probe 1p31.1 is labeled in red and chromosome 1 centromere probe D1Z1 is labeled in green as a control. The presence of only one red signal indicates deletion of 1p31.1 on one homologue (arrow). B, FISH showing a deletion at 22q11.21. Probe 22q11.21 is labeled in red, and BAC clone RP11-676E13 from 22q13.33 is labeled in green as a control. The presence of only one red signal indicates deletion of 22q11.21 on one homologue (arrow). (A, Courtesy Urvashi Sirti, PhD, Pittsburgh Cytogenetics Laboratory.)

A

e-Figure 1-3  A, Microarray characterization of 16p13.11 deletion. Microarray plot shows a single-copy loss of 170 oligonucleotide probes from the short arm of chromosome 16 at 16p13.11. Probes are ordered on the x axis according to physical mapping positions, with the most distal p-arm probes to the left and the most distal q-arm probes to the right. Values along the y axis represent log2 ratios of patient : control signal intensities. Results are visualized with Genoglyphix software (Signature Genomics). B, Fluorescence in situ hybridization (FISH) showing a deletion at 16p13.11. Probe 16p13.11 is labeled in red, and chromosome 16 centromere probe D16Z2 is labeled in green as a control. The presence of only one red signal indicates deletion of 16p13.11 on one homologue (arrow). (A, Courtesy Urvashi Surti, PhD, Pittsburgh Cytogenetics Laboratory.)

A

B

B

e1

2 

NEONATOLOGY Beverly S. Brozanski  |  Melissa M. Riley  |  Debra L. Bogen

GENERAL TECHNIQUES OF PHYSICAL EXAMINATION Assessment of the Newborn The purposes of the routine newborn assessment are to determine the infant’s gestational age, document normal growth and development for a given gestational age, uncover signs of birth-related trauma or congenital anomalies, and evaluate the overall health and condition of the infant. The assessment begins with the establishment of a historical database. Information may be obtained from antenatal, labor, delivery, and postpartum records and a brief interview with the parents (Fig. 2-1). The aim of this data gathering is to assess the fetal and neonatal responses to pregnancy, labor, and delivery; to estimate the risk for hereditary or congenital diseases; and to identify the potential for future difficulties by reviewing the family’s social history and observing maternal–infant interactions. This background is recorded in the infant’s medical record and serves as a guide to the subsequent physical examination (Table 2-1). Whenever possible, it is preferable that the newborn be examined in the presence of one or both parents to reassure them regarding normal variations and to discuss any abnormal findings. The baby should remain at least partially clothed through as much of the examination as possible, although a complete and thorough examination is imperative. The examiner’s hands should be warm to minimize the chance that the infant will become uncomfortable because of heat loss. Observation must be done before the quiet infant is disturbed by the examination. By visual inspection the clinician can assess skin and facies; general tonus and symmetry of movement; respiratory rate, retractions, and color; and abdominal contour. Auscultation of the heart and lungs should be done before more stressful portions of the examination, which are likely to make the infant fussy. Allowing the infant to suck on a gloved finger can help quiet the infant and permit assessment of sucking strength and palate integrity. Lifting the infant under the arms (Fig. 2-2) and gently rocking him or her (such that the head swings toward and away from the examiner) is usually calming. This maneuver also induces a reflexive opening of the eyes, which assists the ophthalmologic examination. Sucking also induces eye opening. Such maneuvers may be necessary to convince the examiner that the patient does not have a congenital cataract or an intraorbital mass (see Chapter 19) requiring prompt intervention. When the abdomen is examined, it often helps to gently flex the hip on the side being examined because this relaxes the abdominal muscles. Most structures in the abdomen are smaller (pyloric olive), softer (liver), more superficial (spleen tip), or deeper (kidneys) than expected. The use of any part of the hand other than the fingertips should be discouraged because maximal sensitivity is essential.

Careful evaluation of the hip joints is a crucial part of each newborn examination because identification and early treatment of congenital dislocation can prevent later disability. Although asymmetry of the buttocks and skin creases or asymmetry of femoral length can be clues to dislocation, the performance of at least one of a number of active motion tests is essential. The Ortolani maneuver involves placing the third or fourth finger over the greater trochanter and the thumb on the medial aspect of the thighs (Fig. 2-3). The thighs are first adducted to try to dislocate a dislocatable hip and then abducted with the fingers pushing toward the midline and the thumbs away from midline to relocate a dislocated hip. A definite “clunk” can be felt and often heard if the femoral head has been dislocated and then moves back into the acetabulum. Often, higher-pitched clicks and snaps that represent nothing more than tendons passing over bone or cartilage can be heard and felt.

Assessment of Gestational Age One of the unique considerations in the examination of the newborn is the assessment of gestational age. Accurate determination should be the first part of any newborn examination because this provides the context for the remainder of the evaluation. No differential diagnosis of newborn disease can be made without knowing whether the patient is premature or full term and whether he or she is small, large, or appropriate for gestational age. Although an accurate menstrual and pregnancy history usually provides firm evidence of gestational age, there are many cases in which data such as the date of the last menses and the date of the onset of fetal movement are unavailable or unreliable. Many investigators have developed examination criteria, both morphologic and neurologic, for the assessment of gestational age. Although these criteria are generally useful because of the ordered patterns of fetal development, the clinician cannot rely on any single feature or even small group of features to develop at the same rate in all infants. In fact, assessment of paired structures, such as ears, may reveal slightly different degrees of maturation from one side to the other. Thus all of the available methods involve numerous physical and neurologic items and have, at best, a 2-week range of error. Although morphologic criteria tend to be uninfluenced by events occurring around the time of delivery, neurologic findings may be unreliable in the presence of a number of conditions including depression secondary to medication, asphyxia, seizures, metabolic diseases, infections, and severe respiratory distress. Even morphologic criteria may be inaccurate if the infant is born with severe edema or growth retardation or side effects from maternal drug use. Such factors must be considered in estimating gestational age. The Ballard assessment for gestational age determination of newborns uses six morphologic and six neurologic criteria 45

46

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 2-3  Ortolani maneuver. The proper hand positioning for this maneuver is demonstrated. Abducting the femur produces a palpable “clunk” in the infant with congenital hip dislocation.

Figure 2-1  Antenatal assessments. This infant has a normal sonographic appearance at 12 weeks’ gestation. Knowledge of the results of in utero evaluations may assist in the provision of appropriate antenatal and postnatal care. (Courtesy Lyndon Hill, MD, Pittsburgh.)

to estimate gestational age on the basis of an examination performed at 12 to 24 hours of life (Fig. 2-4). Individual findings are scored on a scale of 0 to 5, and the total score is compared with the chart shown in Figure 2-4. Physical Maturity One of the most striking differences among newborns of various gestational ages is the quality of the skin. The chemical nature of skin changes during intrauterine development, with a gradual decrease in water content and a thickening of the keratin layer. Very premature infants (24 to 28 weeks) have nearly translucent, paper-thin skin (Fig. 2-5) that is easily abraded. A diffuse red hue and a prominent venous pattern are characteristic. At term, the skin no longer appears thin, and the general color is a pale pink. Some superficial peeling and cracking around the ankles and wrists may be visible. Postterm infants (42 to 44 weeks) often have more diffuse peeling and cracking of the skin because the outermost layers are sloughed (Fig. 2-6).

Figure 2-2  Examination techniques. Holding an infant under the arms and gently rocking calms the infant and reflexively induces eye opening.

Table 2-1

Newborn Historical Database

Antenatal Record Maternal age Maternal medical history Obstetric history Number of previous pregnancies Number of term/preterm deliveries Outcomes of previous pregnancies Estimations of gestational age Antenatal ultrasound or fetal surveillance results (if available) Complications of pregnancy Adequacy of antenatal care Labor and Delivery Record Date and time of delivery Duration of labor Time of the rupture of membranes Complications or abnormalities of labor Method of delivery or type of anesthesia Placental weight and morphologic condition Birth weight Need for resuscitation and Apgar scores Maternal blood type Postpartum Record Maternal postpartum complications Newborn vital sign records Nursing documentation of the activity and condition of the infant On admission to the nursery Since admission to the nursery Abnormal physical findings noted by the nursing staff Feeding, voiding, and stool history Observations of maternal–infant interactions Parental Interview Parental perceptions of Pregnancy Labor Delivery History of parental and family illnesses Health status and growth and development of siblings and other family members Degree of education, preparation, and planning for newborn care Available social support systems Medical follow-up plans

2  |  Neonatology



47

Physical maturity 0

1

2

Gelatinous, red, transparent

Smooth, pink, visible veins

Superficial peeling and/or rash, few veins

Cracking, pale area, rare veins

Parchment, deep cracking no vessels

Lanugo

None

Abundant

Thinning

Bald areas

Mostly bald

Plantar creases

No crease

Faint red marks

Anterior transverse crease only

Creases anterior two thirds

Creases cover entire sole

Barely perceptible

Flat areola, no bud

Stippled areola, 1–2 mm bud

Raised areola, 3–4 mm bud

Full areola, 5–10 mm bud

Pinna flat, stays folded

Slightly curved pinna, soft, slow recoil

Well-curved pinna, soft but ready recoil

Formed and firm with instant recoil

Thick cartilage, ear stiff

Testes descending, few rugae

Testes down, good rugae

Testes pendulous, deep rugae

Skin

Breast

Ear

Genitals: male

Scrotum empty, no rugae

3

4

5 Leathery, cracked, wrinkled

Maturity rating Genitals: female

Prominent clitoris and labia minora

Majora and minora equally prominent

Majora large, Clitoris and minora small minora completely covered

Neuromuscular maturity

Posture

Square window (wrist)

Arm recall

90°

60°

180°

45°

100°–180°

30°

0°

90°–100°

10% difference in weight) between identical twins occurs because their placentas can share vascular connections, resulting in overperfusion of one twin and underperfusion with subsequent growth restriction of the other. Discordance may also occur in dizygotic twins (Fig. 2-21) if one has placental insufficiency. Rarely, only one twin will be afflicted with a chromosomal abnormality or congenital infection. Newborns that are large for gestational age (LGA) are often the products of pregnancies in diabetic or “prediabetic” mothers. The effect is usually noted during the third trimester, with infants at term who weigh more than 4 kg (8 lb 13 oz). Weight is the most affected parameter, but length and head circumference are often increased as well. Infants of diabetic

52

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A

60

50

5000

55

45

50

40

4000 3000 2000

Head (cm)

6000 Length (cm)

Birth weight (gm)

Figure 2-18  Moro reflex. A, To elicit the reflex, the head is supported and allowed to drop to the level of the bed. The initial extension response to vestibular stimulation is shown in (B). The complete response includes secondary flexion and cry.

45 40 35

1000 0 30

34

38

42

30 25

30 26

35

20 26

30

34 38

42

26

30

34 38

42

Gestational age (weeks) Figure 2-19  The mean (±2 standard deviations) weight, length, and head circumference for infants born at various gestational ages. Infants above or below the curves are considered too large or too small for gestational age, respectively. (From Usher R, McLean F: Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation, J Pediatr 74:901-910, 1969.)

Figure 2-20  Intrauterine growth retardation. This term baby weighed only 1.7 kg. The head appears disproportionately large for the thin, wasted body. This resulted from placental insufficiency late in pregnancy. Hypoglycemia may be a complication. (Courtesy TALC, Institute of Child Health, Bethesda, Md.)

Figure 2-21  Discordant twins. This is a pair of markedly discordant dizygotic twins. Disturbed placentation accounted for the marked reduction in size of the smaller twin.



Figure 2-22  Large-for-gestational-age infant. This infant of a diabetic mother weighed 5 kg at birth and exhibits the typical rounded facies.

mothers are often identifiable by macrosomia, round facies (Fig. 2-22), and sometimes plethora and hirsutism (especially of the pinnae). Maternal hyperglycemia causes glycogen deposition in the newborn, resulting in visceromegaly, most notable in the liver and heart. Although babies weighing more than 8 pounds are more likely to be from diabetic pregnancies, a significant number of large full-term newborns are the product of normal pregnancies. Nevertheless, all LGA infants should be routinely screened for hypoglycemia and their mothers investigated for the possibility of undiagnosed diabetes mellitus. Two fairly unusual syndromes can also cause excessive size: (1) cerebral gigantism, or Sotos syndrome, with macrosomia, macrocephaly, large hands and feet, poor coordination, and variable mental deficiency; and (2) Beckwith-Wiedemann syndrome with macrosomia, macroglossia, omphalocele, linear ear fissures, and neonatal hypoglycemia (see Chapter 9).

Placenta Careful examination of the placenta can aid in the diagnosis and treatment of many conditions and diseases. Unfortunately, the placenta has been relegated to the afterbirth and is often immediately discarded without knowing the condition of the offspring. After the membranes and cord are trimmed, the normal ratio of fetal-to-placental weight is approximately 4.7 : 1. The configuration, color, condition of the membranes, insertion of the cord, and condition of the fetal and maternal surfaces are all relevant. The insertion of the umbilical cord into the placenta, which can be central, eccentric, marginal, or velamentous, can be important in understanding unexplained asphyxia or blood loss. In a velamentous insertion (Fig. 2-23), the cord is inserted

Figure 2-23  Velamentous cord insertion. The umbilical cord is inserted into the amniotic membranes rather than into the placental disk. This leaves the umbilical vessels relatively unprotected and predisposes them to rupture.

2  |  Neonatology

53

Figure 2-24  Circumvallate placenta. Extension of villous tissue exists beyond the chorionic surface, with a well-defined hyalinized fold at the edge of the  chorionic plate.

into the membranes rather than into the placental disk, leaving the umbilical vessels unprotected for a variable distance. These vessels are more prone to rupture, with resultant fetal hemorrhage (vasa previa). At times, placentation itself is abnormal. In a circumvallate placenta (Fig. 2-24), the villous tissue projects beyond the chorionic surface, with a hyalinized fold at the edge of the chorionic plate. This type of placentation may cause antepartum bleeding, premature labor, and increased perinatal mortality. Premature placental separation (abruptio placentae) can lead to an accumulation of blood behind the placenta (Fig. 2-25). Although the bleeding is usually of maternal origin, rare fetal blood loss may also occur. Large abruptions may lead to poor growth, fetal asphyxia, or even death. Distinguishing a true abruption, in which an adherent clot compresses the maternal surface, from the nonadherent collection of blood that forms on normal placental separation is important. Placental infarctions (Fig. 2-26) tend to occur along the margin of the placenta, can vary in color from red to yellowish white, and are most common in pregnancies complicated by hypertension. Small placental infarcts (90% correct by age 7 yr

Behavior

Term

Focuses on face, briefly tracks vertically and horizontally, turns toward diffuse light source, widens eyes to object or face at 8-12 in. Blinks at approaching object, tracks 60 degrees horizontally, 30 degrees vertically Tracks across midline, follows movement 6 ft away, smiles to a smiling face, raises head 30 degrees in prone position Eyes and head track 180 degrees, looks at hands, looks at objects placed in hands Reaches for object (12-in. cube) 12 in. away, notices raisins 1 ft away, smiles at familiar adult Smiles in mirror Rakes at raisin Notes visual details, pokes at holes in pegboard and at elevator buttons Neat pincer grasp Stacks blocks, places peg in round hole

1 mo 2 mo

4-5 mo 5-6 mo 7-8 mo 8-9 mo

Inaccurate Inaccurate

>90% correct by age 8 yr >70% correct by age 8 yr

Visually Related Behaviors

Age of Infant

3 mo Inaccurate

107

9 mo 12-14 mo

108

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Gross and Fine Motor Development Apparently, much of the motivation for the infant with normal vision to raise the head 90 degrees when in the prone position is to increase the visual field. Without the feedback of interest­ ing sights, the infant with severe visual impairment may not attain this milestone until 11 to 12 months of age. In contrast, rolling occurs in infants who are blind at close to the same age as in infants with normal vision. If sitting independently is an active goal, it can occur by 6 to 7 months of age. However, transitional movements from lying to sitting or from sitting to standing occur several months later in infants without sight than in infants able to see. Protective reactions develop more slowly in infants with severe visual impairment, and these are expected to appear in the 10- to 12-month age range. This delay, as well as the inabil­ ity to integrate visual cues in attaining balance and equilib­ rium, and the lack of a visual impetus to explore distant toys, may contribute to a typical delay in crawling or walking. Paired auditory–tactile cues presented to children with severe visual impairment may stimulate their interest in objects beyond their reach, thus accelerating gross motor development. Regarding fine motor development, information gathering by index finger and manual manipulation may be more accu­ rate in the child who is blind than in the child with normal vision. However, the youngster who is blind may experience a delay in the acquisition of precise prehension, which some­ times never develops, with raking favored as a more efficient means of exploration. Cognitive Development The development of cognitive skills in the child with visual impairment must of necessity depend on use of the other sensory modalities. For this reason, careful global evaluation of the child with severe visual impairment should be con­ ducted early in infancy to ensure that the other senses are intact. A child with normal vision develops the understanding that objects are permanent even when they cannot be seen, felt, heard, sniffed, or tasted. For the child with severe visual impairment, the opportunities for object perception are fewer, and thus the understanding of object permanence typically develops later, stimulated by encouragement of the infant to reach for sound cues. Similarly, in a child with severe visual impairment, the understanding of conservation of continuous quantity, that a cup of water contains the same volume of liquid in a tall thin container as it does in a short fat one, also develops later than in the child with normal vision. Haptic perception, the acquisition of information about objects or spaces by exploration with the hands, appears to be more important in the cognitive development of the child with severe visual impairment than in that of the child with normal vision. For this reason, tactile exploration in the child who is blind cannot be promoted at too early an age. In fact, without such encouragement, these children may be fearful and resis­ tant to unfamiliar new feelings. Language and Intellectual Development Verbal imitation and receptive language skills may develop normally in healthy children who are blind. As one might expect, these children may have difficulty with words relating to visual concepts, such as light, dark, and color. They may also have problems with words referring to large things that cannot be touched (sky and stars), things that change slowly (age and growth), and the concept “I.” However, some chil­ dren with severe visual impairment show accurate use of all of these concepts and even make the distinction between the words look and see. In these cases the child probably uses

available linguistic information to substitute for visual information. Although standard IQ tests cannot be used to assess intel­ lectual capabilities of children with severe visual impairment, standardized instruments have been developed to assess their cognitive development. Receptive and expressive language skills figure prominently in these assessments. In addition, interview schedules of adaptive behavior in communication and self-help skills have been developed specifically for chil­ dren with visual impairment. Social Development Infants who are blind lack the opportunity to benefit from face-to-face contact with their caregivers, from the visual rein­ forcement of smiling, from the use of facial expressions to assist in the interpretation of voices or actions, and from the experi­ ence of tracking parents across the room to know that even when they cannot be heard or felt they are still there. These differences in sensory input affect their social and emotional development. Parents of infants with severe visual impairment frequently need to be coached to use touch and sound to rein­ force smiling and other desired behaviors in their child. At about the same time that children with normal vision smile at familiar faces, children who are blind smile in response to familiar touching and kinesthetic handling. Smiling in response to a familiar voice, however, may occur inconsis­ tently up to 1 year of age. The infant who is blind demon­ strates attachment by calming to the tactile exploration of the caregiver’s familiar face or hands. Blind children of about 1 year of age may have stranger awareness, although a greater hurdle will be their reaction to separation. Because these children have a limited capacity to track their caregivers, separations from them may induce panic states even among older ones. Similarly, the develop­ ment of independent caregiving and play may be delayed and may require specific interventions. Parents should be advised that, without purposeful stimula­ tion, children who are blind may engage in nonpurposeful motor activities such as eye rubbing or rocking and that these stereotypical behaviors, referred to as blindisms, are difficult to extinguish. Blindisms can often be channeled to purposeful stimulation by directing the child’s hands to exploration of a toy or by distracting the child with conversation or music. These efforts will serve to channel the child’s activities in a more socially adaptive direction.

SUMMARY The tasks of routine developmental surveillance supplemented by standardized screening, identification of children with vari­ ations, and referral for appropriate developmental services (especially during infancy and in the preschool years) fall largely, and often exclusively, to the primary care clinician. Although we have provided estimates regarding the expected chronology of development, these developmental milestones are guidelines rather than fixed time frames within which skill acquisition may be judged as normal or abnormal. In evaluat­ ing a child, the physician must use these guidelines, the results of screening tests, and clinical judgment, taking into account the child’s own personality traits, experiences, and degree of cooperation. Recommendations for further assessment and treatment should be made in consultation with the family. Resources Validated Developmental Screening Tests http://www.developmentalscreening.org/index.htm

Ages & Stages www.brookespublishing.com/tools/asq/index.htm Child Development Inventories http://www.childdevrev.com/page15/page17/cdi.html Denver II http://www.denverii.com/ Parents’ Evaluation of Developmental Status (PEDS) http://www.pedstest.com/default.aspx

Bibliography Allen MC: Neurodevelopmental assessment of the young child: the state of the art, Ment Retard Dev Disabil Res Rev 11:274–275, 2005. Batshaw ME, editor: Children with disabilities, ed 5, Baltimore, 2002, Paul H. Brookes. Carey WB, Crocker AC, Coleman W, et al, editors: Developmental–behavioral pediatrics, 4th ed. Philadelphia, 2009, WB Saunders. Committee on Children with Disabilities: Developmental surveillance and screening of infants and young children, Pediatrics 108:192–195, 2001. Cooley WC, McAllister JW: Building medical homes: improvement strategies in primary care for children with special health care needs, Pediatrics 113:1499–1506, 2004. Dixon SD, Stein MT: Encounters with children: pediatric behavior and development, ed 3, St. Louis, 2000, Mosby. Feldman HM: Evaluation and management of language and speech disorders in preschool children, Pediatr Rev 26:131–142, 2005. Glascoe FP: Early detection of developmental and behavioral problems, Pediatr Rev 21:272–280, 2000.

3  |  Developmental–Behavioral Pediatrics

109

Johnson CP, Blasco PA: Infant growth and development, Pediatr Rev 18:224– 242, 1997. Joint Committee on Infant Hearing, American Academy of Audiology, Ameri­ can Academy of Pediatrics, American Speech-Language-Hearing Association, Directors of Speech and Hearing Programs in State Health and Welfare Asso­ ciations: Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs, Pediatrics 106:798–817, 2000. Jones KL: Smith’s recognizable patterns of human malformation, ed 6, Phila­ delphia, 2006, Elsevier Saunders. Kaleida PH, Shaikh N: Digital visual diagnosis in pediatrics teaching and review module: “Assessing infant development” (CD-ROM). Pittsburgh, 2003, University of Pittsburgh. Levine MD, Carey WB, Crocker AC, editors: Developmental–behavioral pediatrics, ed 3, Philadelphia, 1999, Saunders. Lichtenberger EO: General measures of cognition for the preschool child, Ment Retard Dev Disabil Res Rev 11:197–208, 2005. Perrin E, Stancin T: A continuing dilemma: whether and how to screen for concerns about children’s behavior, Pediatr Rev 23:264–276, 2002. Vargas C, Prelock PE, editors: Caring for children with neurodevelopmental disabilities and their families: an innovative approach to interdisciplinary practice, Mahwah, NJ, 2004, Lawrence Erlbaum. Note: A lengthier list of tool choices is accessible in the 2006 AAP policy statement: Council on Children with Disabilities, et al: Identifying infants and young children with developmental disorders in the medical home: an algo­ rithm for developmental surveillance and screening, Pediatrics 118:405–420, 2006.

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4 

ALLERGY AND IMMUNOLOGY Andrew MacGinnitie  |  David Nash  |  Todd Green  |  David Stukus

D

isorders of the immune system are diverse and range from mild to severe in their manifestations and impact on normal function. In this chapter, we review the physical findings and characteristic symptoms of children with hypersensitivity reactions and immune deficiencies, as well as diagnostic techniques and radiographic findings. Topics have been chosen on the basis of their prevalence and importance in the pediatric population and their association with characteristic physical findings.

IMMUNOLOGIC HYPERSENSITIVITY DISORDERS Hypersensitivity disorders of the human immune system have been classified by Gell and Coombs into four groups (Table 4-1). Type I reactions occur promptly after the sensitized individual is exposed to an antigen and are mediated by specific IgE antibody. Cross-linking of IgE on the surface of mast cells and basophils leads to release of histamine and other inflammatory mediators. This mechanism is responsible for the common disorders of immediate hypersensitivity, such as allergic rhinitis and urticaria. So-called “anaphylactoid” reactions are clinically similar, but are caused by degranulation of mast cells and basophils in the absence of specific IgE. Type II reactions involve antibodies directed against antigenic components of peripheral blood or tissue cells or foreign antigens, resulting in cell destruction. Examples of this type include autoimmune hemolytic anemia and Rh and ABO hemolytic disease of the newborn. In type III reactions, antigen–antibody complexes form and are deposited in the lining of blood vessels, stimulating tissue inflammation mediated by complement or activated white blood cells. Examples of this type of reaction are serum sickness and the immune complex– mediated renal diseases. Type IV reactions involve T cell– mediated tissue inflammation and typically occur 24 to 48 hours after exposure. Examples of this type are tuberculin (purified protein derivative, PPD) reactions and contact dermatitis (see Chapter 8).

TYPE I DISORDERS The development of type I hypersensitivity depends on hereditary predisposition, sensitization by exposure to an antigen, and subsequent reexposure to the antigen leading to an allergic reaction. Antigens that stimulate allergic reactions are known as allergens, and the mechanism of allergen-induced mediator release in type I hypersensitivity reactions is shown in Figure 4-1. IgE antibodies directed toward specific allergens are bound to the high-affinity IgE receptor on mast cells and basophils. When allergen causes cross-linking of IgE antibodies on the cell surface, the cell becomes activated, leading to the release of preformed mediators and the generation of the

early and late mediators of anaphylaxis. The preformed mediators include histamine, tryptase, chymase, heparin, and other proteases that drive the earliest symptoms of anaphylaxis. A serum tryptase level is currently the best biologic marker of anaphylaxis, but it is still a relatively insensitive test. Serum tryptase levels should be obtained close to the onset of anaphylaxis because levels peak in 1 hour and remain elevated for only 4 to 24 hours. The early and late mediators generated by mast cell activation include prostaglandins, leukotrienes, and cytokines. These mediators, which are generated over minutes to hours, continue to drive the clinical symptoms of the allergic reaction and initiate an inflammatory cascade that leads to the recruitment of eosinophils, basophils, and lymphocytes. Type I reactions may occur in one or more target organs including the upper and lower respiratory tracts, cardiovascular system, skin, conjunctivae, and gastrointestinal (GI) tract. Manifestations depend on the systems involved, as shown in Figure 4-2. The most common manifestation of type I reaction is seasonal allergic rhinitis with a prevalence of at least 25%. The most serious manifestation of type I hypersensitivity is anaphylaxis, which can simultaneously involve all of the organ systems mentioned above. Type I hypersensitivity has been diagnosed by skin testing for more than 100 years. The percutaneous skin test, also known as either the scratch or prick test, is an in vivo method to detect the presence of IgE antibody to specific allergens. The skin prick test is the safest and most specific test and correlates best with symptoms. The skin prick test is typically performed with a plastic lancet on either the forearm or upper back and involves a superficial disruption of the epidermis that is nearly painless (Fig. 4-3). The test leaves a barely visible mark, and when performed properly, the prick site should not bleed. The test is interpreted after 15 to 20 minutes by measuring the maximal diameter of both the wheal and the flare. Skin test results are compared with a negative control, which is usually saline, and a positive control, which is typically histamine. Historically, intradermal tests have been considered to be more sensitive than prick tests, but the specificity is poor and these tests should be used only when ruling out allergic disease is essential. Allergy skin testing is contraindicated in four clinical situations: (1) when antihistamines have been used in the recent past—this will typically manifest as a negative histamine control; (2) when skin disease limits the area available for testing; (3) during either an asthma exacerbation or episode of anaphylaxis; and (4) when a patient is taking a β-blocking medicine, because these can interfere with epinephrine treatment in rare cases of test-induced anaphylaxis. When skin testing is not possible, in vitro testing is a good alternative. The in vitro tests can be accomplished with just a few milliliters of serum and also may be advantageous for some patients who have a difficult time sitting through allergy tests. In vitro 111

112

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Table 4-1

Classification of Hypersensitivity Disorders

Hypersensitivity Type

Time Interval between Effector Exposure and Reaction

Type I: Anaphylaxis   a.  Immediate   b.  Late phase Type II: Cytotoxic

60% to 30%

Daily

Mild persistent

• Symptoms >2 times/wk but 2 times/mo

• FEV1 or PEFR >80% predicted • PEFR variability 20%-30%

>2 times/wk but 80% predicted • PEFR variability 30%

• Asymptomatic and normal PEFR between exacerbations • Exacerbations brief (from a few hours to a few days); intensity may vary

Short-acting β2-Agonist Use Used four times a day; does not completely relieve symptoms

FEV1, forced expiratory volume in 1 second; PEFR, peak expiratory flow rate. Reprinted with permission from Rachelefsky GS, Shapiro GG, Bergman D, et al, Pediatric Asthma Committee: Pediatric asthma: promoting best practice guide for managing asthma in children, Milwaukee, Wis, 1999, American Academy of Allergy, Asthma, & Immunology.

time of examination. The findings of acute asthma are markedly different from those of chronic and latent or quiescent asthma. Between episodes, the examination is usually entirely normal. Prolongation of the expiratory phase is often noted. Clubbing as a sign of chronic asthma is rare and, if present in a wheezing child, suggests another chronic pulmonary disease. During acute asthma, the following historical features should be noted: time of onset, possible triggers, present medications, comparison with previous episodes, and presence of complicating factors (e.g., vomiting, fever, chest pain). Examination should document accessory muscle use, retractions, and color. Auscultation should be done to assess air exchange, wheezing, and inspiratory-to-expiratory ratio. The ability to speak (words, phrases, or complete sentences) is a useful measure of dyspnea. Lethargy, decreased air exchange, and increased work of breathing are the most worrisome signs indicating acute deterioration.

4

Additional Tests That May Be Needed to Confirm the Diagnosis of Asthma in Children

Reason for Additional Tests

Suggested Test(s)

Child has symptoms (coughing, wheezing, breathlessness, chest tightness), but spirometry is (near) normal Suspect other factors are contributing to severity of asthma symptoms Symptoms suggest infection, large-airway lesions, heart disease, or obstruction by foreign object Suspect coexisting chronic obstructive pulmonary disease or restrictive defect

•  Bronchoprovocation with histamine, methacholine, or exercise (if negative, may rule out asthma) •  Nasal examination •  Allergy tests, gastroesophageal reflux tests, sinus radiology* •  Routine chest x-ray, highresolution CT scan* •  Additional pulmonary function tests; diffusing capacity test*

*Referral to a specialist is recommended for consultation or comanagement. CT, computed tomography. Reprinted with permission from Rachelefsky GS, Shapiro GG, Bergman D, et al, Pediatric Asthma Committee: Pediatric asthma: promoting best practice guide for managing asthma in children, Milwaukee, Wis, 1999, American Academy of Allergy, Asthma, & Immunology.

Predicted Pre-albuterol Post-albuterol

3.5 3 2.5 Flow (L/s)

Table 4-8

In addition, rales are often heard, and pulse, respiratory rate, and blood pressure are frequently elevated. Pulsus paradoxus, an exaggerated decrease in systolic blood pressure during inspiration (Table 4-9), correlates highly with the degree of airway obstruction, although it is rarely measured clinically. This phenomenon may result from physical forces on the pericardium that impede venous return and reduce cardiac output during forced inspiration. Normally, the inspiratory decrease in systolic blood pressure is less than 10 mm Hg and is not discernible during routine sphygmomanometry. In acute asthma, it is usually greater than 10 mm Hg (up to 30 and 40 mm Hg) and is easily detectable. Individuals with asthma may be distinguished by their characteristic symptoms and signs during acute episodes, which typically change as the degree of airway obstruction increases. Symptoms secondary to a viral illness usually consist of progressively increasing shortness of breath and

2 1.5 1 0.5 0 Volume (L)

Figure 4-22  Asthma. Flow–volume loop showing predicted values, initial values, and substantial reversibility after albuterol administration. Note the downward scooping of curves, which is typical in patients with asthma with ongoing obstruction.

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Table 4-9

Measurement of Pulsus Paradoxus BLOOD PRESSURE IN RELATION TO TIME AND RESPIRATORY PHASE (MM HG)

Expiration

Inspiration

Expiration

Inspiration

Expiration

Normal (no airway obstruction) 125/70 120/70 125/70 120/70 125/70 Asthma (airway obstruction) 125/70 100/70 125/70 100/70 125/70 Method 1. Pump sphygmomanometer cuff to occlude the peripheral pulse. 2. As the cuff pressure falls, listen carefully for the onset of the first Korotkoff sound. 3. Note the pressure at which the first Korotkoff sound is detected. This should be heard only during expiration. (In the above example, 125 mm Hg = normal and asthma.) 4. Continue to slowly decrease the cuff pressure until the first sound is detected during inspiration and expiration. Note this pressure. (In the above example, 120 mm Hg = normal; 100 mm Hg = asthma.) 5. When the difference between the two pressures is greater than or equal to 10, pulsus paradoxus is present.

difficulty breathing with or without rhinorrhea, low-grade fever, and vomiting. On examination, expiratory wheezing or a prolonged expiratory phase may be the only manifestation of mild asthma. However, as the obstructive process progresses, the expiratory phase becomes longer and the wheezing becomes louder and occurs on both inspiration and expiration. Eventually, airways collapse and signs of hyperinflation develop (low diaphragms, decreased lateral excursions of the chest wall with breathing, and hyperresonance to percussion). Visible sternocleidomastoid contractions; increased anteroposterior chest diameter; circumoral cyanosis; and suprasternal, intercostal, and substernal retractions occur. Subjectively, the patient experiences chest tightness and anxiety and works harder to breathe. Accessory muscle use and retractions can develop with or without marked wheezing on auscultation. To maximize air exchange, the child assumes a characteristic sitting posture, bending slightly forward. Frequent examinations are warranted, and any change in sensorium requires prompt evaluation. As respiratory muscles tire, the patient becomes lethargic and cyanotic, even with

Table 4-10

supplemental oxygen. A decrease in wheezing with increased air entry represents response to therapy. Decreased wheezing with decreased air entry is an ominous sign. With extreme fatigue, respiratory muscles fail, retractions decrease, and respiratory failure is imminent unless appropriate therapy is promptly initiated. After initial examination, serial assessment of the degree of respiratory distress, using the parameters outlined in Table 4-10, assists determination of the response to therapy. A particularly useful aspect of the physical examination is the respiratory rate, which increases as the degree of airway obstruction progresses. Respiratory rates of normal children are shown in Table 4-11. The underlying pathology of asthma is lung inflammation. Histopathologic features of acute asthma include airway infiltration with inflammatory cells, increased intraluminal mucus with plugging of small airways, edema, bronchoconstriction, and smooth muscle hypertrophy. Because asthma has bronchoconstrictive and inflammatory components, the ideal therapeutic regimen should incorporate a combination of

Estimation of Severity of Acute Exacerbations of Asthma in Children Mild

Moderate

Severe

Symptoms Breathlessness*

While walking

While at rest (infant—stops feeding)

Talks in: Alertness

Sentences May be agitated

While at rest (infant— softer, shorter cry, difficulty feeding) Phrases Usually agitated

Words Usually agitated

Drowsy or confused

Signs Respiratory rate† Accessory muscle use Wheeze

Increased Unusual

Increased Common

Significantly increased Common

Often normal or decreased Paradoxic abdominal movements

Moderate, often only end-expiratory Normal to tachycardic 50,000 cells/mm3). Other rare causes of LAD have also been described.

The cytooxidase complex has four subunits (Fig. 4-56). The most common defect is X-linked, but defects in the other subunits are due to an autosomal recessive pattern of inheritance. The X-linked form is generally more severe. Clinically, most children with chronic granulomatous disease become symptomatic early in life, developing infections with catalase-positive bacteria and fungi. The skin, lungs, liver, and lymph nodes are the most common sites of infections, and five organisms account for the majority of infections: Staphylococcus aureus, Burkholderia cepacia, Serratia marcescens, Aspergillus species, and Nocardia. Liver abscesses and invasive Aspergillus lung infection in the absence of known immunosuppression strongly suggest CGD. Hepatosplenomegaly is a frequent physical finding and presumably represents involvement of the reticuloendothelial system. Granulomas may also develop in other organs. In the patient whose radiograph is seen in Figure 4-57, the diagnosis of chronic granulomatous disease was suggested by the finding A

B Figure 4-57  Chronic granulomatous disease (CGD). Barium contrast radiogram demonstrating the “string sign,” a thin line of barium that represents narrowing of the gastric antrum secondary to granuloma formation. This child had persistent vomiting but none of the usual stigmata of CGD.

Figure 4-58  Leukocyte adhesion deficiency. A, Infection involving and surrounding the umbilical cord. B, Histopathologic appearance of a scalp abscess. Note the presence of bacterial colonies (purple staining) and distinct lack of host cellular inflammatory response. (A, Courtesy Kenneth Schuit, MD, Pittsburgh, Pa; B, courtesy Kenneth Schuit, MD, and William Robichaux, MD, Pittsburgh, Pa.)

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A

B

C

E

D

F

Figure 4-59  Characteristic facial features of NEMO deficiency. These include fine sparse hair, few teeth, conical incisors, depressed nasal bridge, and frontal bossing.

COMPLEMENT SYSTEM DISORDERS The complement system is a complex system of serum proteins that require serial activation through the classical, alternative, or mannose-binding lectin (MBL) pathway. Complement mediates and amplifies many of the biologic functions of the immune system. These functions include (1) enhancement of phagocytosis (opsonization) and viral neutralization, (2) mediation of inflammation via chemotaxis and alteration of vascular permeability, (3) cell lysis, and (4) modulation of the immune response. Although rare, inherited deficiencies of most complement components have been reported. Clinical presentation varies, depending on the specific complement protein involved. Frequent modes of presentation for complement component deficiencies are collagen vascular diseases for defects in components C1 through C4, disseminated infections with pyogenic bacteria for C3, and disseminated neisserial infections for C5 through C8. C9 deficiency is often asymptomatic. The CH50 assay is a simple screening test for complement deficiency. A normal result effectively rules out complement dysfunction. Workup for complement deficiency should be undertaken in patients with severe or recurrent neisserial infection or in patients with recurrent sinopulmonary infections and normal antibody studies. A defect in C1 esterase inhibitor results in hereditary angioedema, which is discussed in an earlier section. There is wide variation in MBL levels in the general population, with some reports showing increased rates of infection in individuals with low or absent MBL levels. However, a substantial portion of the population (5% to 8%) has low or undetectable levels and most of these patients do not have unusually frequent or severe infections.

Other Innate Defects Several innate immune defects predisposing to infections have been identified. These include deficiency in nuclear factor (NF)-κB essential modifier (NEMO, also known as IKK-γ). This

disorder is characterized by mutations that disrupt the function of NEMO, which is encoded on the X chromosome. Boys with NEMO are susceptible to a variety of infections including infection with pyogenic bacteria, mycobacteria, and viruses. They also have ectodermal dysplasia with sparse hair, few conical teeth, and frontal bossing (Fig. 4-59). Toll-like receptors (TLRs) are among the receptors responsible for recognizing PAMPs, and signaling through TLRs helps alert the immune system to the presence of infections. Defects in TLR signaling, including the molecules MyD88 and IRAK4, which transduce signals from the membrane-associated TLRs to the interior of the cell, have been recognized in patients with recurrent pneumococcal infections. Defects in signaling via TLR-3, which recognizes double-stranded RNA, has been implicated in susceptibility to herpes simplex virus (HSV) infections.

ANATOMIC AND MUCOSAL DISORDERS Preventing the entry of microorganisms into sterile sites and clearance of infections from these sites represent the first line of defense. Intact mucosal barriers are of crucial importance in preventing the entrance of microorganisms into the host. The respiratory and GI mucosa aid in host defense by secreting antibodies (predominantly IgA) into their lumina. Also, physical factors such as saliva flow in the oral cavity, intestinal peristalsis, and the coughing reflex are important in the “washing out” effect on potential pathogens. Anything that prevents clearance may predispose to infections in the upper airway. Hypertrophy of the adenoids can inhibit both eustachian tube function and drainage from the sinuses, predisposing to ear and sinus infections. Patients with unusual anatomy due to cleft palate or other craniofacial abnormalities (see Chapter 22) often have frequent infections despite an intact immune system. Immotile cilia syndrome is characterized by a defect in mucociliary transport, another component of the mucosal barrier. This disorder was first described as Kartagener

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sinusitis with opaque sinuses on radiography, (4) chronic productive cough, (5) bronchiectasis, (6) digital clubbing, and (7) nasal polyps. The disorder should be suspected in any child with chronic or recurrent upper or lower respiratory tract infections. When situs inversus is not present, the diagnosis of immotile cilia syndrome requires confirmation by electron microscopic analysis of cilia obtained from a biopsy of the nasal or tracheobronchial mucosa (Fig. 4-61). Bibliography

Figure 4-60  Kartagener syndrome. Dextrocardia and situs inversus of the abdominal organs. Abnormal ciliary motion is thought to result in malrotation during embryogenesis.

syndrome, which consists of a triad of situs inversus (Fig. 4-60), chronic sinusitis, and bronchiectasis. These patients were also noted to be infertile because their spermatozoa were poorly motile, due to the lack of dynein arms in their tails. Studies revealed similar defects in mucosal cilia and led to recognition of the fact that the phenomenon could exist in the absence of situs inversus. The resultant ciliary dysfunction impedes mucus clearance and produces a combination of the following signs and symptoms: (1) early onset of chronic rhinorrhea, (2) chronic otitis media, (3) chronic

A

B

Figure 4-61  Immotile cilia syndrome. A, Electron micrograph of cilia from a patient with immotile cilia syndrome. Note the absence of dynein arms from the outer doublets. B, Normal cilia with dynein arms. (From Bluestone C, Stool S: Pediatric otolaryngology, vol 1, Philadelphia, 1983, WB Saunders.)

Adkinson NF, Yuninger JW, Busse WW, et al: Middleton’s allergy: principles and practice, ed 6, St. Louis, 2003, Mosby. American Academy of Allergy, Asthma, & Immunology: The allergy report: diseases of the atopic diathesis, Vol 2, Milwaukee, Wis, 2000, American Academy of Allergy, Asthma, & Immunology. Bonilla FA, Bernstein IL, Kahn DA, et al: Practice parameter for the diagnosis and management of primary immunodeficiency, Ann Allergy Asthma Immunol 94:S1–S63, 2005. Bonilla FA, Geha RS: Primary immunodeficiency diseases, J Allergy Clin Immunol 111:S571–S581, 2004 Borish L: Allergic rhinitis: systemic inflammation and implication for treatment, J Allergy Clin Immunol 112:1021–1031, 2003. Castro-Rodriquez JA, Holberg CJ, Wright AL, et al: A clinical index to define risk of asthma in young children with recurrent wheezing, Am J Respir Crit Care Med 162:1403–1406, 2000. Global Initiative for Asthma: Global strategy for asthma management and prevention. Web publication, 2005. Available at http://www.ginasthma.com Gruchella RS: Drug allergy, J Allergy Clin Immunol 111:S548–S559, 2003. International Rhinitis Management Working Group: International consensus report on the diagnosis and management of rhinitis: allergy, Eur J Allergy Clin Immunol 49:1–34, 1994. Laitinen LA, Laitinen A, Haahtela T: Airway mucosal inflammation even in patients with newly diagnosed asthma, Am Rev Respir Dis 147:697–704, 1993. Lawley TJ, Bielory L, Gascon P, et al: A prospective clinical and immunologic analysis of patients with serum sickness, N Engl J Med 311:1407–1413, 1984. Liu AH, Jaramillo R, Sicherer SH, et al: National prevalence and risk factors for food allergy and relationship to asthma: results from the National Health and Nutrition Examination Survey 2005-2006, J Allergy Clin Immunol 126:798–806, 2010. Martinez FD, Stern DA, Wright AL, et al: Differential immune responses to acute lower respiratory illness in early life and subsequent development of persistent wheezing and asthma, J Allergy Clin Immunol 102:915–920, 1998. Martinez FD, Wright AL, Taussig LM, et al: Asthma and wheezing in the first six years of life, N Engl J Med 332:133–138, 1995. Moffet JE, Golden DKB, Reisman RE, et al: Stinging insect hypersensitivity: a practice parameter update, J Allergy Clin Immunol 114:869–886, 2004. National Asthma Education and Prevention Program: Expert Panel Report 3 (EPR-3): guidelines for the diagnosis and management of asthma. Bethesda, Md, 2007, National Institute of Health. Available at http://www.nhlbi. nih.gov/guidelines/asthma. Ochs HD, Smith CIE, Puck JM, editors: Primary immunodeficiency diseases, New York, 1999, Oxford University Press. Puck JM: Primary immunodeficiency diseases, JAMA 278:1835–1841, 1997. Rachelefsky GS, Shapiro GG, Bergman D, et al, Pediatric Asthma Committee: Pediatric asthma: promoting best practice guide for managing asthma in children, Milwaukee, Wis, 1999, American Academy of Allergy, Asthma, & Immunology. Rosenzweig SD, Holland SM: Phagocyte immunodeficiencies and their infections, J Allergy Clin Immunol 113:620–626, 2004. Sampson HA, Munoz-Furlong A, Campbell RL, et al: Second symposium on the definition and management of anaphylaxis: Summary report—second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium, J Allergy Clin Immunol 117:391–397, 2006. Shearer WT, Leung DYM, eds. 2008 mini-primer on allergic disease, J Allergy Clin Immunol 121:S363–S426, 2008. Stiehm ER, Ochs HD, Winklestein JA, editors: Immunologic disorders in infants and children, ed 5, Philadelphia, 2004, Elsevier Saunders.

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5 

CARDIOLOGY Lee B. Beerman  |  Jacqueline Kreutzer  |  Vivek Allada

T

his chapter addresses the initial approach to a patient with suspected or known heart disease by physical examination, chest x-ray, and electrocardiogram. A proper initial assessment helps to avoid the expense of unnecessary testing. However, the practice of cardiology as a pediatric subspecialty continues to evolve rapidly with expansion and enhancement of imaging technology and therapeutic options. Complex structural congenital anomalies can be precisely defined by a combination of techniques that include echocardiography, cardiac catheterization with angiography, nuclear imaging, magnetic resonance imaging (MRI), and computed tomographic (CT) angiography. Concomitant with advances in diagnostic capabilities have come remarkable advances in therapy, both surgical and by interventional catheterization. Therefore we have included considerable material on echocardiography and color flow Doppler studies, which remain the preeminent imaging modalities in pediatric cardiology. In addition, we have described the common surgical procedures used and added an updated section on the expanding array of therapeutic options in the cardiac catheterization laboratory. The three prerequisites to a good cardiovascular examination are a proper environment, a cooperative child, and the conviction on the part of the physician that the examination is important. A heart murmur is not the only part and often is not even the most important part of the cardiac physical examination. Blood pressure determination, character of the pulse and precordial activity, observation of cyanosis, clubbing of the nail beds of the fingers or toes, and dysmorphic facial or other physical features may provide clues to the diagnosis and nature of congenital heart lesions before auscultation is even performed.

PHYSICAL DIAGNOSIS OF CONGENITAL HEART DISEASE Cyanosis and Clubbing Even before mild desaturation is detectable, early clubbing and cyanosis may be seen (Figs. 5-1 and 5-2). The base of the nail, especially the thumbnail, may show loss of the angle as early as 3 months of age (see Chapter 16). Elevated hemoglobin and hematocrit and loss of nail angle indicate hypoxemia and the presence of a right-to-left intracardiac shunt (Fig. 5-3). If heart disease is excluded, chronic pulmonary disease should be considered as another potential cause of clubbing. Observation of the lips and mucous membranes for the presence of cyanosis is best done in good daylight because fluorescent lighting may produce a false cyanotic tinge. In the presence of polycythemia with hemoglobin in the 18 to 20 gm/dL range and hematocrit greater than 60%, the conjunctival vessels become engorged and plethoric (see Fig. 5-2). Conversely, when a patient is anemic, visible cyanosis can be easily missed (this is particularly important in infancy, when babies reach the physiologic nadir in hematocrit). Differential cyanosis between the upper and lower extremities is an unusual

clinical finding. If the patient has pulmonary vascular disease, reverse flow through a patent ductus arteriosus with no rightto-left intracardiac shunting, cyanosis, and clubbing may be found in the lower extremities but not in the hands (Fig. 5-4).

Blood Pressure and Pulse Blood pressure determination in infants and children is an integral part of the cardiac physical examination. Attention to proper cuff size prevents the misdiagnosis of systolic hypertension from an undersized cuff. In general, it is better to use an oversized cuff because overestimation of systolic blood pressure can be avoided. Blood pressure can be tracked in children over time, and tables depicting normal blood pressure range for age have been published. Blood pressure determination in both arms and a lower extremity will detect coarctation of the aorta, lend support for the diagnosis of supravalvular aortic stenosis (blood pressure higher in the right arm than in the left arm, due to the Coanda effect), and help to assess the severity of aortic valve disease including aortic valve stenosis (narrow pulse pressure) and aortic regurgitation (wide pulse pressure).

Heart Murmur Evaluation Murmurs are relatively common in the newborn period. A common innocent heart murmur (peripheral pulmonic stenosis) during this period originates from the branch pulmonary arteries because of their relatively small size compared with the main pulmonary artery; this is a result of the normal fetal flow pattern, which delivers limited flow to the right and left pulmonary arteries. Characteristically, this murmur is early systolic and loudest over both axillae and the back. The murmur of branch pulmonary artery stenosis has the same distribution as the structural lesions that cause increased pulmonary blood flow. A transient systolic murmur at the middlelow left sternal border in the normal newborn can be due to tricuspid regurgitation, and a soft systolic ejection murmur at the upper left sternal border may arise from a closing patent ductus arteriosus. A large ventricular septal defect does not produce a murmur in the newborn period because the initially high pulmonary vascular resistance results in minimal shunting across the defect. On the other hand, pathologic systolic murmurs in the newborn are caused by restrictive ventricular septal defects and lesions producing left and right ventricular outflow tract obstruction (i.e., tetralogy of Fallot and valvular aortic or pulmonary stenosis). In the newborn it can be difficult to distinguish the murmur of a small restrictive ventricular septal defect from that of a severe right ventricular outflow tract obstruction in tetralogy of Fallot or left ventricular outflow obstruction. The implications of this differential diagnosis are such that an echocardiogram is recommended for infants with this clinical presentation. Contrary to popular belief, the presence of a continuous murmur from a patent ductus arteriosus is extremely rare in 145

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A

B

Figure 5-1  Mild cyanosis. A, This child shows no obvious cyanosis of the face and lips, although the photograph in B demonstrates clubbing; note the loss of nail angle and curvature of the nails, especially of the thumb.

a full-term newborn. This is because the normal elevation of pulmonary artery pressure at this age minimizes the diastolic gradient between the aorta and pulmonary artery, attenuating or eliminating any diastolic component of the murmur. If a continuous murmur is heard in the newborn, patent ductus– dependent pulmonary blood flow or systemic to pulmonary

A

collateral vessels in association with pulmonary atresia complex should be considered. Preschoolers and school-age children are commonly referred for evaluation of a heart murmur. Innocent murmurs of childhood fall into four major categories: systolic ejection murmurs at the base; vibratory, or Still’s, murmur; venous hums; and

B

Figure 5-2  Moderate cyanosis. This child demonstrates moderate cyanosis of the lips (A) and nails (B). Note also the reddish discoloration of the eyes resulting from conjunctival suffusion.

A

B

Figure 5-3  Severe cyanosis. Severe cyanosis of the lips, tongue, and mucous membranes can be noted in A, associated with marked clubbing and cyanosis of the nails in B.

5  |  Cardiology



Table 5-1

Innocent Murmurs Mimicking Congenital Heart Disease

Innocent Heart Murmur

Figure 5-4  Differential cyanosis and clubbing resulting from reverse shunting through a patent ductus arteriosus in a patient with pulmonary vascular disease. Note the marked cyanosis and clubbing of the toes, although the finger appears to be normal. (Courtesy J.R. Zuberbuhler, MD, Pittsburgh, Pa.)

carotid and cranial bruits. In most instances there are associated clinical and laboratory studies that can distinguish the innocent from the pathologic murmur. Table 5-1 summarizes the distinguishing features and differential diagnosis. Figure 5-5 illustrates the sites where murmurs resulting from various cardiovascular lesions are best heard.

Syndrome-associated Physical Findings Dysmorphology of the face and habitus suggests certain syndromes associated with congenital heart disease (Table 5-2). The typical features in Down syndrome (trisomy 21) are discussed in Chapter 1. About 40% of children with this syndrome have structural lesions such as atrioventricular septal defects (complete or partial AVSD), isolated ventricular septal defects, patent ductus arteriosus, or anomalous origin of the subclavian arteries. Although many infants with Down syndrome and congenital heart disease have chronic congestive heart failure and growth failure, there is a subset of infants with a significant septal defect who may grow and develop appropriately. This is related to abnormally high pulmonary vascular resistance not decreasing in the usual fashion in this group, leading to early pulmonary vascular disease. Because this presentation may be silent, it is important that all children with Down syndrome be thoroughly evaluated during early

Figure 5-5  Sites where murmurs resulting from various cardiovascular lesions are best heard.

147

Structural Congenital Heart Disease

Systolic Ejection Murmur at the Base of the Heart High left sternal border Pulmonary valve stenosis   Ejection click   Transmission to back Atrial septal defect   Parasternal lift*   S2 wide split*   Diastolic murmur of tricuspid flow* High right sternal border Aortic valve stenosis   Ejection click*   Radiation to neck* Still Murmur Vibratory quality Location: left midsternal border

Venous Hum Continuous Location: neck and under clavicles Usually loudest when sitting, disappears in supine posture Carotid and Cranial Bruits Murmur over carotids and head

Ventricular septal defect   Character of murmur* Discrete subaortic stenosis   Radiation to aortic area* Subpulmonic stenosis   Radiation to pulmonic area*   Soft P2* Patent ductus arteriosus   Location under left clavicle*   No change with position* Coronary AV malformation   Accentuated in diastole* Aortic stenosis AV malformation   Continuous murmur would support AV malformation*

*Distinguishing features. AV, atrioventricular; P2, pulmonic second sound; S2, second heart sound.

Cranial bruit

Venous hum Aortic stenosis Peripheral pulmonic stenosis

Patent ductus arteriosus Peripheral pulmonic stenosis

Pulmonic stenosis

Mitral insufficiency Ventricular septal defect (or subaortic stenosis)

Systemic pulmonary collaterals Peripheral pulmonic stenosis

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Table 5-2

Dysmorphology Syndromes and Trisomies with Associated Cardiovascular Abnormalities

Syndrome

Common Cardiac Defect

DiGeorge/ velocardiofacial (22q11 deletion)

Aortic arch abnormalities: interrupted arch (type B), right aortic arch Conotruncal abnormalities: truncus arteriosus, tetralogy of Fallot, pulmonary atresia with ventricular septal defect Atrial septal defect or single atrium Ventricular septal defect Atrial and ventricular septal defects, arrhythmias Dilation of ascending aorta/aortic sinus, aortic and mitral insufficiency Dysplastic pulmonic valve, atrial septal defect Coarctation of the aorta, bicuspid aortic valve Supravalvular aortic stenosis, pulmonary artery stenosis

Ellis–van Creveld Fetal alcohol Holt-Oram Marfan Noonan Turner Williams Trisomy   13   18   21 (Down)

Patent ductus arteriosus, septal defects, pulmonic and aortic stenosis (atresia) Ventricular septal defect, polyvalvular disease, coronary abnormalities Atrioventricular septal defects, ventricular septal defect, patent ductus arteriosus, anomalous subclavian artery

infancy. The evaluation should include an echocardiogram to rule out congenital heart disease. DiGeorge and velocardiofacial syndromes are related developmental disorders involving the third and fourth pharyngeal pouches. They have been shown to be caused by deletions within a critical region of chromosome 22q11 (which can be evaluated by a blood test, namely, fluorescence in situ hybridization [FISH], for 22q11 deletion). Cardiac abnormalities, particularly the conotruncal type and aortic arch anomalies, occur in 75% of patients with 22q11 deletion (see Table 5-2). Other findings include hypocalcemia, cleft palate, renal anomalies, immunologic defects, facial dysmorphisms, and variable developmental delay with educational and behavioral issues (see Chapter 4). Ellis-van Creveld syndrome is an autosomal recessive disorder characterized by multiple gingival frenula, natal teeth, and polydactyly (Fig. 5-6). The patient with this syndrome frequently has an atrial septal defect or a common atrium. Holt-Oram syndrome, an autosomal dominant disorder, is associated with upper limb deformities consisting of narrow shoulders, hypoplasia of the radius, and phocomelia (Fig. 5-7). Absence of both radius and thumb or proximal displacement of the thumb is the most frequent finding. Commonly

A

associated cardiovascular abnormalities include an atrial septal defect, ventricular septal defect, and arrhythmias (atrial and ventricular ectopy and atrioventricular block). Marfan syndrome also has autosomal dominant inheritance; it manifests as a connective tissue disorder in which the elastic fibers are disrupted, causing cystic medial necrosis of the aorta, as well as joint laxity and subluxation of the ocular lens. Affected patients are tall, with increased limb length compared with the trunk. Their arm span exceeds their height. The cardiovascular abnormalities nearly always found in this syndrome include aneurysmal dilation of the aorta and aortic sinuses and mitral valve prolapse. Associated aortic and mitral valve regurgitation are common (Fig. 5-8) (see Chapter 1). The most common cardiac defects in Turner syndrome are coarctation of the aorta and a bicuspid aortic valve. (See Chapters 1 and 9 for a detailed discussion of Turner syndrome). Patients with Noonan syndrome have features characteristic of Turner syndrome but possess a defect on chromosome 12 and may be male or female. Clinically, these children have the findings of webbing of the neck, pectus excavatum, shield chest with widely spaced nipples, short stature, epicanthal folds, low-set ears, and increased carrying angle of the arms (Fig. 5-9). Common cardiovascular defects include pulmonary stenosis in association with a dysplastic pulmonary valve, atrial septal defect, and hypertrophic cardiomyopathy. On occasion, there may be dysplasia of all cardiac valves. The syndrome appears as an autosomal dominant disorder; multiple members of a family are often affected. Patients with Williams syndrome characteristically have “elfin” facies: a broad maxilla, a small mandible with full mouth and large upper lip (philtrum), upturned nose, and a full forehead (Fig. 5-10). This syndrome has been associated with hypercalcemia in infants, a strikingly affable personality despite variable degrees of developmental delay, and has an identifiable genetic abnormality. Supravalvular aortic stenosis and pulmonary artery branch stenosis are the common cardiovascular abnormalities associated with this syndrome. In addition, there are many other genetically determined diseases and inborn errors of metabolism with cardiac involvement, the most common of which are listed in Table 5-3.

Visible Clues in Acute Rheumatic Fever Examination of the skin in a patient with acute rheumatic fever may reveal the typical rash of erythema marginatum, although this rash is not specific for rheumatic fever. It is

B Figure 5-6  Ellis–van Creveld syndrome. Note the gingival frenula and natal teeth (A) and multiple digits (polydactyly) (B).

5  |  Cardiology



Table 5-3

Other Genetic Syndromes and Inborn Errors of Metabolism with Associated Cardiovascular Findings

Genetically Determined Diseases Metabolic   Pompe disease (glycogen storage)   MPS

  Hyperlipoproteinemia, familial type II Neurologic   Friedreich ataxia

Cardiac Findings Cardiomyopathy (storage of glycogen in myocardium) Storage of MPS in arteries and coronary arteries, valves with insufficiency and stenosis Hurler syndrome (MPS IH), Hunter syndrome (MPS II), Scheie syndrome (MPS IS), Hurler-Scheie syndrome (MPS IH/S), Morquio syndrome (MPS IV) Premature atherosclerosis of arteries including coronary arteries

  Muscular dystrophies

Cardiomyopathy (congestive or hypertrophic) Myocardial degeneration and fibrosis

Inborn Error of Metabolism (No Proven Genetic Basis)

Cardiac Findings

Progeria

Hypercholesterolemia, atherosclerotic changes in arteries including coronary arteries

MPS, mucopolysaccharidosis.

149

swellings vary in size from 2 mm to 1 cm and are persistent. They are seen over the bony prominences of the large joints and external surfaces of the elbows and knuckles of the hands, knees, and ankles. They may also be felt along the spine and over the skull. Although difficult to photograph, they are easily palpated (Fig. 5-12).

Signs of Bacterial Endocarditis Although the clinical presentation of bacterial endocarditis varies according to the infecting organism, it should be suspected in any patient with congenital or acquired heart disease who has prolonged fever without apparent cause. The classic skin lesions include petechiae, splinter hemorrhages of the nails, conjunctival hemorrhages, and Janeway lesions (Fig. 5-13), all of which are manifestations of vasculitis. Vegetations occasionally dislodge and embolize in an end artery, which results in hemorrhagic or gangrenous lesions (Fig. 5-14). Osler’s nodes, which present as small tender erythematous nodules, are found in the intradermal pads of the fingers and toes or in the thenar or hypothenar eminences (Fig. 5-15). All the aforementioned findings are often associated with a new heart murmur, splenomegaly, spiking fever, and positive blood culture. Clubbing of the fingers may occur in chronic cases.

Kawasaki Disease

evanescent, nonpruritic, has sharp serpiginous margins, and is found on the inner aspects of the upper arms and thighs and on the trunk (Fig. 5-11). The differential diagnosis includes (1) drug rash, which is papular and pruritic; (2) erythema multiforme, which has target lesions; (3) rash of juvenile rheumatoid arthritis, which is pink, macular, and lacks wavy margins, and which may be transient; and (4) the cutaneous findings of Kawasaki disease (see Chapter 7). Subcutaneous nodules are rare in chronic rheumatic heart disease, but if found, they are almost always associated with severe carditis. These movable, nontender, cartilage-like

This multisystem disease has surpassed acute rheumatic fever as the most common form of acquired heart disease in children. It is characterized by fever, conjunctivitis, erythema of the lips and oral mucosa, extremity changes, rash, and cervical adenopathy. Coronary artery aneurysms develop in 15% to 25% of untreated patients and may result in myocardial ischemia, infarction, or sudden death. The incidence of coronary abnormalities is markedly decreased with timely treatment (~5%). This disease is discussed in detail in Chapter 7. Coronary artery aneurysms are well demonstrated by echocardiography (Fig. 5-16), and this imaging modality plays an essential role in the diagnosis and management of Kawasaki disease.

No radius shadow

A

B

C

Figure 5-7  Holt-Oram syndrome. Note the absence of the radius and thumb (A). The associated cardiovascular abnormality is an atrial septal defect. Radiographic examination (B and C) demonstrates the absence of a radius shadow; the missing thumb is apparent.

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A

B

Figure 5-8  Infant with Marfan syndrome. A, Note the narrow elongated face, pectus excavatum, and long arms and fingers. B, A close-up view of the infant’s hand.

LABORATORY AIDS IN THE DIAGNOSIS OF CONGENITAL HEART DISEASE

Chest Roentgenography

In addition to a comprehensive physical examination, the chest roentgenogram, electrocardiogram, and, most notably, echocardiography provide invaluable information concerning specific congenital heart lesions and have allowed therapeutic decisions to be made without cardiac catheterization.

The chest x-ray examination is useful to screen patients with suspected congenital heart disease. It is particularly useful in differentiating cardiac from pulmonary pathology such as pneumonia, pneumothorax, pneumomediastinum, or other parenchymal lung disease that may mimic congenital heart disease. The review of any chest roentgenogram requires a systematic approach.

Figure 5-9  Noonan syndrome. Note the widely spaced eyes, low-set ears, webbing of the neck, shield chest, pectus, and increased carrying angle of the arms.

Figure 5-10  Williams syndrome. Note the wide-set eyes, upturned nose, large maxilla, prominent philtrum, and pointed chin. (Courtesy R.A. Mathews, MD, Philadelphia, Pa.)

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151

A

Figure 5-11  Erythema marginatum rash in a child with acute rheumatic fever. Note the wavy margins in the distribution on the trunk.

Cardiac Apex and Visceral Situs The location of the cardiac apex and visceral situs provides important diagnostic information. Discordance of the situs and cardiac apex (i.e., apex to the right with situs solitus [normal arrangement] or apex to the left with situs inversus) is often associated with structural congenital heart disease (Figs. 5-17

B Figure 5-14  Acute bacterial endocarditis. Note the hemorrhagic lesions (A) and subungual splinter hemorrhages (B).

and 5-18). Dextrocardia (apex to the right) or mesocardia (apex to the middle) with situs solitus is a frequent presentation of ventricular inversion or corrected transposition of the great arteries (see Fig. 5-17). Dextrocardia can also be seen with primary pulmonary problems. Scimitar syndrome is composed of dextrocardia with hypoplasia of the right lung (Fig. 5-19). In this case a major portion of the right lung (usually the right lower lobe) is “sequestered” and has its arterial supply by way of a systemic artery from the descending aorta, and the pulmonary venous return from that lung drains Figure 5-12  Subcutaneous nodules. Note their presence over the bony prominences of the elbow in a patient with chronic rheumatic heart disease.

Figure 5-13  Janeway lesions. Note the small (painless) nodules on the sole of a patient with bacterial endocarditis.

Figure 5-15  Osler’s nodes. Note the (painful) erythematous nodular lesions resulting from infective endocarditis. (Courtesy J.F. John, Jr., MD.)

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Figure 5-16  Kawasaki disease: Giant coronary artery aneurysms. Multiple giant coronary aneurysms of the right (RCA, red arrow), left (LCA, green arrow), and left anterior descending (LAD, yellow arrow) coronary arteries. Ao, aorta; PA, pulmonary artery.

Figure 5-18  Levocardia with situs inversus. Discordance of the apex of the heart and visceral situs is often associated with structural congenital heart defects. The hepatic portion of the inferior vena cava is absent in this patient, and there is azygos vein continuation. (Note the prominence of the shadow at the high right-sided cardiac border.) Note air in the stomach under the right hemidiaphragm.

Shape and Size abnormally into the inferior vena cava via a vein forming a scimitar (see Fig. 5-19). Patients with levocardia (apex to the left) with either situs inversus or situs ambiguus frequently have complex congenital heart diseases such as transposition of the great arteries, pulmonary atresia, and atrioventricular septal defects. Atrial isomerism is associated with bilateral morphologic right or left lungs and can be recognized as bilateral symmetrical right (short) or left (long) bronchi. This is best demonstrated with a magnified penetrated chest x-ray examination focusing on bronchial anatomy (Fig. 5-20). Almost all patients with this anomaly have complex congenital heart disease.

Cardiac size is important, but the shape of the cardiac image may also provide a clue as to which heart chambers are enlarged and the likely structural diagnosis. In the cyanotic newborn with transposition of the great arteries, the cardiac image appears as an “egg on a string” (Fig. 5-21). If the thymic shadow does not obscure it, the mediastinal shadow shows a

A

Scimitar shadow

Systemic artery

B Figure 5-17  Dextrocardia (heart in the right side of the chest) associated with situs solitus. Note the prominent vascular shadow along the left-sided cardiac border that is caused by the aorta. This pattern is commonly associated with ventricular inversion (corrected transposition of the great arteries).

Figure 5-19  Scimitar syndrome. A, Note the hypoplastic right lung and scimitarshaped shadow formed by pulmonary veins draining the sequestered segment and connecting to the inferior vena cava. B, Note also the systemic artery coursing diagonally upward from the abdominal aorta to the sequestered lobe.

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153

A Right aortic arch Concavity

Uplifted apex Figure 5-20  Atrial isomerism. Note the symmetrical bronchial anatomy. Atrial isomerism should be suspected when the heart is midline on the chest radiograph and situs ambiguus is present. The best radiographic sign of right or left atrial isomerism pertains to the symmetry of bronchial anatomy, with right atrial isomerism being related to bilateral right bronchi and left atrial isomerism to bilateral left bronchi.

narrow waist resulting from the posteromedial position of the main pulmonary artery. This produces the “string.” Pulmonary vascular markings are usually increased, although vascularity may be normal in the immediate newborn period. In tetralogy of Fallot with pulmonic stenosis, the heart appears “boot-shaped” because right ventricular hypertrophy causes the apex (toe of the boot) to turn upward (Fig. 5-22).

A

Narrow waist

B Figure 5-21  Transposition of the great arteries. Note the “egg on a string” heart shadow, which results from the position of the main pulmonary artery posterior and slightly to the left of the aorta, contributing to the narrow waist (the “string”).

B Figure 5-22  Tetralogy of Fallot with pulmonic stenosis produces a “boot-shaped” heart, which results from right ventricular hypertrophy, upward tilt of the apex, and the concavity at the left upper heart border caused by a small right ventricular infundibulum and main pulmonary artery. Note also the right aortic arch.

The concavity of the left upper cardiac border is due to the small right ventricular outflow tract and main pulmonary artery segment. In tetralogy of Fallot with pulmonary atresia, the heart is shaped like an “egg on its side” (Fig. 5-23). The pulmonary blood flow to the lungs may be supplied by either a patent ductus arteriosus or systemic arterial collateral vessels. The pulmonary vascular markings are decreased if pulmonary blood flow is patent ductus dependent and increased if large systemic collaterals supply pulmonary blood flow. In congenitally corrected transposition of the great arteries, the heart has a “valentine” or “heart” shape with the apex pointing downward just to the left of the midline, as shown in Figure 5-24. The fullness at the left upper border of the cardiac shadow is due to the ascending aorta arising from the left-sided morphologic right ventricle. Although an enlarged and globular heart shadow may be associated with a cardiomyopathy, massive cardiac enlargement (so-called “wall-to-wall” heart) is typical in patients with Ebstein anomaly. In this anomaly there is a malformation of the tricuspid valve with downward displacement of the inferior and septal leaflets of the valve into the ventricle, causing severe tricuspid valve regurgitation or stenosis. As a result, the right atrium becomes markedly enlarged and, along with the “atrialized” portion of the right ventricle, contributes significantly to the cardiac image of a large box-shaped heart (Fig. 5-25). Left-to-right shunt lesions from atrial septal defects, ventricular septal defects, or a patent ductus arteriosus demonstrate specific chamber enlargement and increased pulmonary vascular markings. A significant atrial defect shows enlargement of all right-sided cardiac chambers including the right atrium, right ventricle, and pulmonary artery (Fig. 5-26). A patent ductus arteriosus shows enlargement of all left-sided cardiac chambers including the aorta. In patients with a

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

A Right aortic arch Concavity Right ventricular outflow

Apex

Right atrial shadow

B

B Figure 5-23  Tetralogy of Fallot with pulmonary atresia. Note the “egg on its side” appearance of the heart, due to the uplifted apex resulting from the right ventricular hypertrophy. The absence of a right ventricular outflow and the diminutive main pulmonary artery segment produce a concavity at the left upper heart border. Note also that a right aortic arch is present.

Figure 5-25  Ebstein anomaly of the tricuspid valve. Note the radiographic appearance of a “box-shaped” heart, enlarged right atrium, and prominent right ventricular outflow tract.

ventricular septal defect, the right atrium is the only heart chamber that is not enlarged. Great Vessels The radiographic appearance of the great arteries may also suggest a specific structural congenital heart defect. The main and left branch pulmonary arteries are usually enlarged in patients with pulmonary valve stenosis, due to poststenotic dilation (Fig. 5-27). The characteristic radiographic finding of congenital aortic valve stenosis is dilation of the ascending aorta, best seen as an overlapping shadow with the superior vena cava along the right upper cardiac border (Fig. 5-28). A

Ascending aorta

Apex

B Figure 5-24  Corrected transposition of the great arteries. Note the characteristic “valentine-shaped” heart and the left-sided ascending aorta. Figure 5-26  Atrial septal defect. Note the enlarged right atrium, right ventricle, and pulmonary artery, as well as the increased pulmonary vascular markings on this radiograph.

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Figure 5-27  Pulmonic valve stenosis. Note the typical radiographic abnormalities of a prominent main and left pulmonary artery.

Coarctation of the aorta not diagnosed in a timely fashion may show the distinct radiographic finding of a “reversed E” or “3” sign caused by prestenotic and poststenotic dilation of the descending aorta (Fig. 5-29). If a significant coarctation remains unrepaired for 5 to 10 years, rib notching may appear (see the section Skeletal Abnormalities, below). The normal left aortic arch causes a shift of the tracheal air column to the right, whereas a right arch causes a similar deviation to the left (Fig. 5-30). The position of the thoracic descending aorta also helps define the side of the arch and can be determined by noting obscuring of either the left or right side of the thoracic vertebral bodies. A right aortic arch should always raise the suspicion of congenital heart disease and is found in approximately 30% of patients with tetralogy of Fallot or truncus arteriosus. The addition of a barium swallow to the chest x-ray examination has historically been an important diagnostic tool in the assessment of patients with upper airway obstruction from vascular rings. Current practice favors the imaging techniques of MRI or CT scan, which provide clear and precise imaging of the aortic arch and great vessel anatomy and their

Figure 5-28  Aortic valve stenosis. Note the dilation of the ascending aorta, which is the only radiographic sign in children.

155

A

"3" sign

B Figure 5-29  Coarctation of the aorta. Note that the site of the stenosis can be observed at the center of the “3” sign formed by the prestenotic and poststenotic dilation of the aorta in this characteristic radiograph in a 5-year-old child.

Figure 5-30  Right aortic arch in a child with truncus arteriosus. Note the deviation of the tracheal air column to the left.

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Esophagus

Trachea RSCA

LSCA

RCCA

LCCA

A

Right arch

Left arch

Ao

Ao PA

C B Figure 5-31  Barium esophagram with a double aortic arch. A, Note the bilateral compressions on the anterior view. B, Note the marked retroesophageal indentation on the lateral view. C, Schematic of the double aortic arch. Ao, aorta; LCCA, left common carotid artery; LSCA, left subclavian artery; PA, pulmonary artery; RCCA, right common carotid artery; RSCA, right subclavian artery.

relationship to the airway and esophagus. Nevertheless, one may find vascular anomalies as findings on a barium swallow performed for the evaluation of dysphagia or upper airway respiratory symptoms: If a bilateral indentation is noted on the barium esophagram, a double aortic arch should be suspected (Fig. 5-31). A right aortic arch with distal origin of the left subclavian artery or a left aortic arch with distal origin of the right subclavian artery produces a posterior indentation on the barium esophagram, but the aberrant right subclavian artery is not associated with airway compromise. An anterior esophageal indentation is almost always caused by distal origin of the left pulmonary artery, resulting in this vessel coursing between the trachea and esophagus and causing a pulmonary artery sling (Fig. 5-32). Pulmonary Vascularity Left-to-right shunt lesions are associated with increased pulmonary blood flow that causes primarily arterial or a combination of arterial and venous markings on the chest radiograph. Hyperinflation seen on the chest x-ray film is a characteristic finding in infants with a large left-to-right shunt associated with pulmonary hypertension (Fig. 5-33). Patients with pulmonary venous obstruction, such as infradiaphragmatic total anomalous pulmonary venous return, show a fine reticular pattern of pulmonary venous obstruction, which may mimic respiratory distress syndrome in the neonate (Fig. 5-34). It should be cautioned that the interpretation of pulmonary vascularity can be quite difficult and should always be interpreted within the context of other clinical findings.

Oligemic lung fields indicate reduced pulmonary blood flow, as seen in most types of cyanotic congenital heart disease, the classic example being tetralogy of Fallot. Skeletal Abnormalities Attention should also be given to the thoracic cage including the spine and ribs. Although abnormal fusions of ribs and hemivertebrae are not pathognomonic for specific congenital heart lesions, there is a higher incidence when these findings are present. Rib notching is a distinct radiographic finding in patients older than 5 to 10 years of age with coarctation of the aorta (Fig. 5-35). Scoliosis is a common finding in teenage patients with cyanotic congenital heart disease. Pectus excavatum may cause a false impression of cardiac enlargement because of a “pancaking” effect on the heart from a narrow anteroposterior thoracic diameter. Because of its association with chest wall and spine abnormalities, mitral valve prolapse (and associated connective tissue disorders such as Marfan syndrome) should be considered in this context.

Electrocardiography and Arrhythmias Electrocardiography Although electrocardiography (ECG) is an invaluable diagnostic tool in the assessment of pediatric heart disease, it is impractical and unnecessary for pediatricians to have a thorough knowledge of detailed electrocardiogram interpretation. However, it is valuable to be able to recognize certain typical

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157

A PULMONARY VASCULAR SLING Esophagus Trachea RPA

Esophagus LPA

LPA RPA Trachea Sternum

B

PA

PA

C

Figure 5-32  Anomalous left pulmonary artery (pulmonary artery sling). A, Anterior view of barium-filled esophagus. B, Lateral view: note the anterior rounded indentation in the barium-filled esophagus and the posterior bulge into the air-filled trachea anteriorly. C, Diagram of vascular anatomy and relationships to trachea and esophagus. LPA, left pulmonary artery; PA, pulmonary artery; RPA, right pulmonary artery.

electrocardiographic patterns that yield important diagnostic information. For instance, most normal children have a frontal plane axis that is either normal (0 to 90 degrees) or in the mild right axis deviation range from 90 to 120 degrees. The presence of a superior axis (180 to 270, or 0 to –90 degrees) suggests certain specific cardiac defects. A left axis deviation

A

that includes an axis in the range of 0 to –90 degrees associated with a QR pattern in leads I and AVL is frequently seen in the following situations: a cyanotic newborn with tricuspid atresia (Fig. 5-36), an atrioventricular septal defect with or without Down syndrome, Noonan syndrome, or some varie­ ties of a single ventricle. When the frontal plane axis falls

B

Figure 5-33  Large left-to-right shunt from a ventricular septal defect. Posteroanterior (A) and lateral (B) radiographs from a 2-month-old infant. Note the increased pulmonary vascular markings and lung hyperinflation. The flattened hemidiaphragms are clearly seen on the lateral projection, a finding predictive of associated pulmonary hypertension.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Table 5-4

Figure 5-34  Total anomalous pulmonary venous return below the diaphragm. Note the radiographic findings of severe pulmonary venous obstruction and pulmonary edema, mimicking respiratory distress syndrome or some other primary pulmonary pathology.

between 180 and 270 degrees, it is usually referred to as a northwest axis and is frequently found in atrioventricular septal defects (Fig. 5-37) or other lesions that lead to severe right ventricular hypertrophy. When prominent Q waves are seen in leads I and AVL with associated ST-T wave depression in the lateral leads (V5 and V6) the clinician should suspect cardiac ischemia associated with anomalous left coronary artery from the pulmonary artery (Fig. 5-38). Being certain about hypertrophy in the pediatric age group is difficult because of the wide range of normal values that vary with age. This is particularly true of right ventricular hypertrophy, which can be a physiologic finding in the first several years of life. On the other hand, left ventricular predominance in the newborn is almost always a pathologic finding and usually indicates one of the hypoplastic right heart syndromes, such as tricuspid atresia (left ventricular predominance is shown in Fig. 5-36) or pulmonary atresia with an intact septum. Conduction abnormalities, such as Wolff-Parkinson-White syndrome, prolonged corrected Q–T interval, and atrioventricular block are readily apparent on the 12-lead electrocardiogram and are discussed further in the following section on arrhythmias. Arrhythmias Disorders of heart rate or rhythm are not nearly as common in childhood as they are in adulthood, but it is vital that pediatricians be familiar with arrhythmias that may occur in otherwise healthy children. An outline of these disorders, based on the need for treatment, is presented in Table 5-4. For the numerous rhythm disorders not listed, management must be individualized, taking into account the presence or absence of associated heart disease. Transient arrhythmias may present in the following manner: an asymptomatic child with an irregular heartbeat noted on examination, palpitations, chest pain (a common complaint among children younger than 10 years of age when they sense a tachycardia), dizziness or presyncope, or actual syncope with or without seizure activity. More sustained arrhythmias may lead to congestive heart failure, cardiogenic shock, or even death. The most common irregularity of heart rhythm

Pediatric Dysrhythmias

Treatment Not Required

Treatment Required

Sinus arrhythmia Wandering (ectopic) atrial pacemaker Isolated premature atrial contractions Isolated premature ventricular contractions First-degree atrioventricular block

Supraventricular tachycardia Ventricular tachycardia Third-degree atrioventricular block with symptoms

seen in children is a sinus arrhythmia. This is a normal variant that reflects a healthy interaction between autonomic respiratory and cardiac control activity in the central nervous system. Typically the heart rate increases during inspiration and decreases during expiration and may sound wildly irregular on auscultation unless careful attention is paid to the relationship between the heart rate and respirations (Fig. 5-39). Another normal variant occurs when the atrial pacemaker transiently shifts from the sinus node to another atrial site with only minimal variation in the heart rate. This is often

A Notches

B Figure 5-35  Coarctation of the aorta. Note the rib notching that can be observed in an older child.

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159

TRICUSPID ATRESIA I

II

III

AVR

AVL

AVF Ao PA

LA V3R

V1

V2

V4

V5

V6

RA

LV

RV

Figure 5-36  Electrocardiogram of a child with tricuspid atresia. Note the left axis deviation, left atrial enlargement, and left ventricular hypertrophy. Ao, aorta; LA, left atrium; LV, left ventricle; PA, pulmonary artery; RA, right atrium; RV, right ventricle.

referred to as a wandering atrial pacemaker (Fig. 5-40). Premature atrial contractions are generally benign when they occur in the absence of underlying heart disease. They are particularly common during the newborn period, when they are often associated with aberrant conduction (Fig. 5-41) or apparent pauses (Fig. 5-42) resulting from failure of the premature atrial impulse to conduct to the ventricle. Isolated premature ventricular beats are not common but may be seen with an incidence of 0.3% to 2.2% and rarely require treatment as long as there is no associated heart disease. This form of ectopy is recognizable by a wide QRS, a T wave opposite in direction to the QRS in any given lead, dissociation from

the P wave, and usually a full compensatory pause (Fig. 5-43). For the above-mentioned abnormalities, an appropriate initial workup includes a 12-lead electrocardiogram and rhythm strip and brief exercise in the office to see if the ectopy is suppressed or becomes more frequent as the heart rate increases. An exacerbation of the arrhythmia with this maneuver would warrant further cardiologic investigation. By far the most common arrhythmia requiring treatment in the pediatric population is supraventricular tachycardia (SVT). The most frequent age of presentation is in the first 3 months of life, with secondary peaks occurring at 8 to 10 years of age and again during adolescence. This rhythm disorder is

ATRIOVENTRICULAR SEPTAL DEFECT I

II

III

AVR

AVL

AVF Ao PA

LA V3R

V1

V2

V4

V5

V6

RA

RV

LV

Figure 5-37  Electrocardiogram of a child with an atrioventricular septal defect. Note the superior (northwest) axis deviation and right ventricular hypertrophy. Ao, aorta; LA, left atrium; LV, left ventricle; PA, pulmonary artery; RA, right atrium; RV, right ventricle.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 5-38  Electrocardiogram of an anomalous left coronary artery from the pulmonary artery. Note the pathologic Q waves in I, AVL, V5, and V6 leads (arrows), and ST and T wave changes in the same leads.

Figure 5-39  Sinus arrhythmia. Note variable QRS cycle lengths without change in the P wave–QRS relationship.

II

Figure 5-40  Wandering atrial pacemaker. Note the variable morphology of the P wave, indicating origin from either the sinus node (upward arrows) or an ectopic atrial site (downward arrows).

Figure 5-41  Premature atrial contractions. Note that these premature complexes may be associated with aberrant conduction of the QRS (open arrow) or normal conduction (solid arrow).

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161

Figure 5-42  Nonconducted premature atrial contractions. Note the premature atrial beats that are not conducted (arrows), resulting in apparent pauses.

characterized by a regular, narrow QRS complex tachycardia with rates that vary with the patient’s age. The overall average rate for SVT at all ages is 235 beats/minute; however, in the first 9 months the average is 270 beats/minute compared with 210 beats/minute in older children (Fig. 5-44). Discrete P waves are usually difficult to define, but if present, there is always a one-to-one relationship to the QRS. Dramatic ST segment changes that may occur during tachycardia resolve shortly after conversion to sinus rhythm. Two important points regarding SVT include differentiating this arrhythmia from sinus tachycardia in an infant and the value of the 12-lead electrocardiogram after conversion to sinus rhythm. In a child younger than 1 year of age, during periods of severe stress such as sepsis, dehydration, or high fever, the sinus rate may reach 220 to 250 beats/minute. At this rate the P wave is lost in the T wave. Facial ice water immersion or intravenous adenosine may be invaluable in differentiating rapid sinus tachycardia from SVT: In the latter case the intervention terminates the tachycardia abruptly, whereas in the former it produces only transient slowing and the P waves become evident on the downstroke of the T wave.

Figure 5-43  Premature ventricular contractions. Note the obvious wide QRS premature complexes with abnormal T waves, a fully compensatory pause, and absence of a preceding P wave.

II

Figure 5-44  Supraventricular tachycardia. Note the normal QRS complex tachycardia at a rate of 214 beats/ minute without visible P waves.

Regarding the postconversion 12-lead electrocardiogram, it is important to recognize the presence of Wolff-Parkinson-White syndrome, which occurs in 25% of patients with SVT. This syndrome is characterized by a short P–R interval, a delta wave, and prolongation of the QRS complex (Fig. 5-45) and is not evident when the tachycardia is present. A discussion of the treatment for SVT in the pediatric patient is beyond the scope of this chapter, and detailed algorithms are available in other sources. However, it should be noted that, in more recent years, radiofrequency ablation or cryoablation of the common arrhythmia substrates for SVT, accessory atrioventricular (AV) connections or dual AV nodal pathways, has become a frontline treatment for older children and adolescents. The abnormal pathway can be accurately mapped during an electrophysiology study, and application of radiofrequency energy or cryoablation at the appropriate site can result in immediate disappearance of the delta wave in a patient with Wolff-Parkinson-White syndrome (Fig. 5-46). When the arrhythmia substrate is in proximity to the AV node (AV node reentry or septal accessory pathways), cryoablation provides a larger safety margin than radiofrequency ablation

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 5-45  Wolff-Parkinson-White syndrome. Note the characteristic findings of a short P–R interval, slurred upstroke of QRS (delta wave), and prolongation of the QRS interval.

because of the reversibility of cryoablation lesions terminated at the first sign of AV nodal injury. Sustained ventricular tachycardia is distinctly uncommon in childhood, and the patient must be thoroughly investigated for underlying heart disease. This arrhythmia is most often associated with hemodynamic compromise and is characterized by a regular wide-complex tachycardia, usually with atrioventricular dissociation if P waves are visible (Fig. 5-47). This life-threatening disorder most commonly occurs in children who have had open-heart surgical repair for tetralogy of Fallot or other complex anomalies or who have a cardiomyopathy, myocarditis, congenital ion channel abnormality

(long QT, Brugada syndrome, catecholamine sensitive ventricular tachycardia) or myocardial tumor. Looking for a prolonged corrected Q–T interval (Q–Tc) is also important because this abnormality of repolarization may lead to recurrent syncope and sudden death secondary to ventricular tachy­ cardia or fibrillation (Fig. 5-48). The Q–Tc can be calculated using the Bazett formula: the Q–T interval divided by the square root of the preceding R–R interval. Symptomatic bradycardia is rarely encountered in the pediatric age group. One condition that needs to be recognized is congenital third-degree atrioventricular block (Fig. 5-49). This may occur with associated structural heart disease, but it occurs

RF on

500 ms

I

V1

aVF

HIS d C

ABL d

4:11:38 PM

4:11:39 PM

4:11:40 PM

4:11:41 PM

4:11:42 PM

Figure 5-46  Radiofrequency catheter ablation. Note the prompt disappearance of the delta wave (arrow) after radiofrequency (RF) ablation of an accessory pathway in a patient with Wolff-Parkinson-White syndrome.

Figure 5-47  Ventricular tachycardia. Note the wide QRS complex tachycardia at a rate of 188 beats/minute.

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R

163

R

II Q

T

Figure 5-48  Prolonged Q–T syndrome. Note that the corrected Q–T interval is prolonged at 0.57 second (upper limit of normal is 0.44 second). The Q–T interval must be corrected for heart rate by using the Bazett formula: measured Q–T interval (0.56 second) divided by the square root of the preceding R–R interval (0.96 second).

Figure 5-49  Complete heart block. Note that atrial activity (arrows) is independent of a slower ventricular rhythm.

more frequently with an otherwise normal heart. The presence of maternal connective tissue disease or anti-nuclear antibodies should always be sought as a possible cause when congenital atrioventricular block is detected in a newborn. When a patient is evaluated for a history of syncope or new-onset seizures, it is highly recommended that the physician obtain an electrocardiogram to look for “footprints” of a possible arrhythmic cause. The possibilities include WolffParkinson-White syndrome (providing a substrate for rapid supraventricular tachycardia), prolonged corrected Q–T interval (predisposing to severe ventricular arrhythmias, most often a type known as torsades de pointes), or atrioventricular block (leading to Stokes-Adams attacks).

is the secundum defect (Fig. 5-50), which involves the middle portion of the atrial septum in the region of the fossa ovalis. The sinus venosus type of atrial septal defect is located in the posterosuperior portion of the atrial septum adjacent to the junction of the right atrium and superior vena cava (this vessel effectively overrides the defect) and is associated with partial anomalous pulmonary venous return of the right upper pulmonary vein (Fig. 5-51). An ostium primum defect known as a partial form of an atrioventricular septal defect is seen in Figure 5-52. The complete form of an atrioventricular septal defect consists of a large defect in the center of the heart, in association with a common AV valve (Fig. 5-53). During diastole, with the AV valve open, all four chambers are in direct communication; whereas during systole, the closed AV valve

Echocardiography Echocardiography with Doppler interrogation first provided remarkable advances in the investigation of congenital heart defects in the early 1980s and is now the standard imaging modality for the diagnosis of congenital heart disease. Echocardiographic imaging and color flow Doppler allow accurate anatomic definition of even complex congenital defects, as well as providing a reliable noninvasive hemodynamic assessment of the patient. These tools complement and, in most cases, replace the need for diagnostic cardiac catheterization and angiography in the management of patients with congenital heart disease. Accurate diagnosis of most structural congenital heart diseases, whether simple or complex, can be made by echocardiography. A systematic approach to define major intracardiac connections is a useful starting point: (1) venoatrial (systemic or pulmonary venous return to the right or left atrium), (2) atrioventricular (atria to the ventricles), and (3) ventriculoarterial (ventricles to the great vessels). All types of septal defects can be readily visualized by echocardiography. The atrial septal defects are reliably demonstrated by the subcostal approach. The most common type

Figure 5-50  Secundum atrial septal defect. Note the large defect in the fossa ovalis area (*) on the subcostal view (left). Color Doppler (right) confirms a prominent leftto-right shunt (red flow). LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 5-52  Partial atrioventricular septal defect. Note the defect (arrow) on the apical four-chamber view (left) in the inferior portion of the atrial septum. A left-toright atrial shunt is shown on the color Doppler image (right).

Figure 5-51  Sinus venosus defect. Note the defect (*) in the posterosuperior portion of the atrial septum, with the superior vena cava (SVC) overriding the defect on the subcostal short axis view (left). Color Doppler (right) shows left-to-right shunt across the defect. Anomalous drainage of the right upper pulmonary vein is not shown on this view. IVC, inferior vena cava; LA, left atrium; RA, right atrium.

Figure 5-53  Complete atrioventricular (AV) septal defect (fourchamber view): A and B, Diastolic frames with and without color Doppler. Note large central defect (red asterisk) between atria and ventricles (A). Red Doppler flow indicates large atrial and ventricular shunt (B). C and D, Systolic frames demonstrate atrial (yellow asterisk) and ventricular (green asterisk) components of the defect (C). Blue Doppler flow (arrow) indicates valve regurgitation (D). LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

A

B

C

D



Figure 5-54  Perimembranous ventricular septal defect. Note that the defect (arrow) is located in the superior portion of the septum as seen on the apical fourchamber view (left). Color Doppler image (right) shows left-to-right ventricular shunt. LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

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Figure 5-56  Muscular ventricular septal defect (small). Note that no apparent defect in the ventricular septum could be visualized by two-dimensional image (left) on the apical four-chamber view. However, a color Doppler image (right) identifies a small defect in the muscular septum near the apex by showing a left-to-right jet (arrow). LA, left atrium; LV, left ventricle; RV, right ventricle.

functionally separates the defect into atrial and ventricular components. Figure 5-53, D, illustrates AV valve regurgitation, which is very common with this type of septal defect. Ventricular septal defects are well defined by echocardiography and are usually seen clearly, using the apical fourchamber view. The most common defect is in the perimembranous septum located in the subaortic area and bordered by the tricuspid valve (Fig. 5-54). Moderate defects in the muscular portion of septum are easily visualized in multiple views. A short axis view of such a defect is shown in Figure 5-55. Although small defects located in the muscular septum can be difficult to image, particularly if located in the apical trabecular area, they can be readily detected by color flow Doppler interrogation (Fig. 5-56). Typical findings in the most common cyanotic heart lesion, tetralogy of Fallot, are a dilated aortic root that overrides the ventricular septum, a large perimembranous ventricular septal

defect, and right ventricular outflow obstruction (Fig. 5-57). Truncus arteriosus is a related conotruncal anomaly associated with a large ventricular defect and a common arterial trunk (truncus) arising from both the right and left ventricles, with the pulmonary arteries arising directly from this vessel just above the semilunar valve (Fig. 5-58). Transposition of the great arteries presents with severe cyanosis immediately after birth and can be recognized by the characteristic finding of parallel takeoff of the great vessels from both ventricles, with the aorta arising anteriorly from the right ventricle and the pulmonary artery originating posteriorly from the left ventricle (Fig. 5-59). The most common cause of cardiogenic shock or congestive heart failure in the first several days of life is hypoplastic left heart syndrome, which is associated with either aortic atresia or critical aortic stenosis (Fig. 5-60). Coarctation of the aorta or an interrupted aortic arch may also present with severe

Figure 5-55  Muscular ventricular septal defect (moderate). Note the moderate-size defect (arrow) in the muscular septum on the parasternal short axis view (left). Color Doppler image (right) shows left-to-right shunt (arrow). LV, left ventricle; RV, right ventricle.

Figure 5-57  Tetralogy of Fallot. Aortic root (Ao) overriding a large ventricular septal defect is shown on the subcostal long axis view (left). The anterior deviation of the outlet ventricular septum (*) resulting in narrowing of pulmonary outflow tract (right) is shown on the subcostal short axis view. LV, left ventricle; PA, pulmonary artery; RV, right ventricle.

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Figure 5-58  Truncus arteriosus. Parasternal long axis view (left) shows large truncal root (TA) overriding the ventricular septum receiving outflow from both the right ventricle (RV) and left ventricle (LV). Ascending aorta (Ao) and pulmonary artery (PA) arising directly from the proximal truncal root (*) are shown on the subcostal long axis view (right).

heart failure in the neonate. Aortic arch anomalies are best visualized by a suprasternal approach, and the diagnosis of interrupted aortic arch or coarctation of the aorta can be readily made in most cases (Fig. 5-61). If the pulmonary veins do not communicate directly with the left atrium, total anomalous pulmonary venous return should be suspected. Congenitally corrected transposition is the most likely diagnosis when the atrioventricular connection is discordant (right atrium to morphologic left ventricle and left atrium to morphologic right ventricle).

CARDIAC SURGICAL PROCEDURES The remarkable progress in treating children with severe congenital heart disease, progress that has greatly accelerated during the past two decades, is due largely to dramatic achievements in the field of pediatric heart surgery. Although the first patent ductus arteriosus ligation was done in 1938, the first Blalock-Taussig shunt in 1944, and the initial repair of coarctation of the aorta in 1945, open-heart repair of complex malformations did not become relatively commonplace until the

A

B

late 1960s and 1970s. Since then there have been progressive improvements in precise preoperative diagnosis, development of stunning technical skills by specialized pediatric heart surgeons, and important advances in the perioperative management of infants with critical heart disease. All of these factors have made it possible to offer successful palliative or corrective surgery for the great majority of even the most severe forms of congenital heart disease. Although the large number of possible malformations and various operations applied to them may seem bewildering and complex, in reality only a relatively small number of types of surgical procedures are performed. Most of these procedures are associated with an eponym that designates the surgeon who developed a particular technique. The purpose of the following section is to provide schematic diagrams and brief explanations for the commonly used surgical procedures and the types of defects to which they are applied. Figure 5-62 demonstrates the surgical approach to tetralogy of Fallot. Various types of systemic-to-pulmonary artery shunt procedures are illustrated. These palliative operations are performed in newborns and infants with complex congenital

C

Figure 5-59  Transposition of the great arteries. Parasternal long axial view (A) shows parallel arrangement of the great vessels. Apical four-chamber views confirm origination of the pulmonary artery (PA) from the left ventricle (LV) (B) and the aorta (Ao) from the right ventricle RV) (C).

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Figure 5-60  Hypoplastic left heart syndrome. Markedly hypoplastic left ventricle (LV) with dilated right ventricle (RV) is shown on the apical four-chamber view (left). Small ascending aorta (Ao) is demonstrated on the parasternal long axis view (right). LA, left atrium; RA, right atrium.

Figure 5-61  Coarctation of the aorta. Suprasternal notch view shows discrete narrowing in the proximal portion of the descending aorta (arrow). DAo, descending aorta.

heart disease associated with severe obstruction to pulmonary blood flow that is not amenable to early complete repair. These lesions generally have in common either severe subvalvular or valvular pulmonic stenosis or pulmonary atresia leading to inadequate pulmonary blood flow. In the previous era of cardiac surgery, the most common lesion in this category was tetralogy of Fallot. At present, most children with this entity now have a complete repair in infancy without a prior shunt. The original classic Blalock-Taussig shunt was performed by dividing the subclavian artery and creating an end-to-side anastomosis of the proximal subclavian artery stump to the ipsilateral pulmonary artery. The most common type of shunt performed in the current era is a modified Blalock-Taussig shunt, which uses a Gore-Tex interposition graft between the innominate or subclavian artery and pulmonary artery without dividing the distal subclavian artery. On occasion, unusual anatomy of the aorta or proximal pulmonary arteries leads to placement of a central shunt (a short interposition graft between the ascending aorta and main pulmonary artery). Other procedures, frequently used in the early decades of congenital heart surgery, includea Waterston shunt (creation of a window between the ascending aorta and right pulmonary artery) and a Pott shunt (creation of a window between the descending aorta and left pulmonary artery).

Figure 5-62  Palliative shunt procedures and definitive operative procedure for tetralogy of Fallot.

TETRALOGY OF FALLOT Classic Blalock-Taussig

Modified Blalock-Taussig Central

Transannular patch

Pott

Waterston Various shunt procedures

Ventricle closure Complete repair

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AORTIC ATRESIA AND HYPOPLASTIC LEFT HEART SYNDROME Homograft patch

Ao

PA PA

LV

RV

RV

RV

Norwood procedure (first stage) Figure 5-63  Initial palliative (Norwood) procedure for hypoplastic left heart syndrome (aortic atresia complex).

Figure 5-62 also demonstrates the technique of complete repair for tetralogy of Fallot, which includes closure of the ventricular septal defect, relief of right ventricular outflow tract obstruction with resection of subvalvular muscle, pulmonary valvotomy, and usually a transannular patch. Figure 5-63 illustrates the initial palliation for aortic atresia and hypoplastic left heart syndrome, which is the most common cause of congestive heart failure in the first several days of life. A Norwood procedure is the first of a three-stage operative approach designed to provide long-term stability for a circulation supported by only one ventricle. In the first stage the aortic atresia is functionally converted to pulmonary atresia. A “neoaortic outflow” for the right ventricle is created by transecting the main pulmonary artery near its bifurcation and anastomosing the proximal root to the hypoplastic ascending aorta, making liberal use of a homograft patch to enlarge the entire aortic arch. Relieving the coarctation that is invariably part of the complex is important. A shunt is subsequently performed to provide pulmonary blood flow, and a large atrial septal defect is created to allow unimpeded flow from the left to the right atrium. A modification (Sano procedure) of this operation substitutes a conduit from the right ventricle to the

pulmonary artery for the shunt as the source for pulmonary blood flow. The second and third stages of this approach are described and shown as follows. Figures 5-64 and 5-65 show the approach to palliation of hearts with a functional single ventricle. Any malformation that is associated with a hypoplastic right or left ventricle can be treated in this manner, with the two most common examples being tricuspid atresia with a hypoplastic right ventricle and aortic atresia with a hypoplastic left heart, status post– first-stage Norwood procedure. Figure 5-64 demonstrates the first step in separating the systemic and pulmonary circulations in the setting of a functional single ventricle. The initial procedure directs approximately one half of systemic venous return directly to the pulmonary artery by creating an anastomosis between the superior vena cava and the right pul­ monary artery. In the classic Glenn procedure, the right pulmonary artery is divided, the superior vena cava–right atrial junction is closed, and the superior vena cava is anastomosed to the distal right pulmonary artery. This operation has been modified to a bidirectional Glenn procedure, which separates the superior vena cava from the right atrium and creates an end-to-side connection to the pulmonary artery,

TRICUSPID ATRESIA SVC

Ao PA

Patch RV

LV

Classic Glenn procedure

Bidirectional Glenn procedure

Hemi-Fontan procedure

Figure 5-64  Various initial palliative procedures for a functionally single ventricle, such as tricuspid atresia.

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TRICUSPID ATRESIA

Fenestration

Fontan procedure with a lateral tunnel

Fontan procedure with an extracardiac tunnel

Figure 5-65  Completion of palliation for a functionally single ventricle, such as tricuspid atresia.

allowing flow to both the right and left pulmonary arteries. A variation of this latter procedure is the hemi-Fontan. In this operation, which produces the identical physiologic results as the bidirectional Glenn, a large superior vena cava–pulmonary artery connection is created, but the superior vena cava–right atrial connection is left intact and the orifice of the superior vena cava is closed with a patch. The Fontan procedure completes the process of diverting the entire systemic venous return to the pulmonary artery and is shown in Figure 5-65. This may be done by a lateral tunnel approach, in which a tunnel within the right atrium is created with a U-shaped graft attached to the right atrial wall. The current approach uses an extracardiac tunnel, which avoids incorporating right atrial tissue into the connection in the hope of preventing postoperative atrial arrhythmias related to right atrial scarring. In many Fontan operations, a small opening or fenestration in the tunnel is created to allow a small amount of right-to-left shunting to decompress the relatively high-pressure systemic venous conduit.

Figures 5-66 and 5-67 depict the various surgical approaches to transposition of the great arteries. The Mustard and Senning procedures were the original procedures used until the 1980s to correct the circulation in children with transposition. In both of these operations the atrial venous return is “switched” by placing a baffle that directs the superior and inferior vena caval systemic venous return posterior and to the left behind the baffle to the left ventricle, while allowing the pulmonary venous return to flow anteriorly in front of the baffle to the right ventricle. Figure 5-66 demonstrates the preoperative and postoperative flow patterns in transposition in the right and left diagrams, respectively, showing how rerouting systemic venous return allows fully oxygenated blood to go to the aorta. The only difference in the Mustard and Senning operations is the use of more native atrial tissue and less patch material in the latter operation. Because of long-term morbidity with the atrial switch procedures, including baffle obstruction and dysfunction of the systemic right ventricle, in the past 25 years all pediatric cardiology centers have been using the arterial

TRANSPOSITION OF THE GREAT ARTERIES

SVC

Ao PA

Atrial baffle

LV

Pulmonary veins

RV

IVC Mustard or Senning procedure Figure 5-66  Intraatrial baffle (Mustard or Senning) procedure for transposition of the great arteries.

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Figure 5-67  Arterial switch (Jatene) procedure for transposition of the great arteries.

TRANSPOSITION OF THE GREAT ARTERIES

Ao

Ao

PA

PA

LV RV

RV

LV

Arterial switch (Jatene procedure)

switch (Jatene) procedure (see Fig. 5-67) to correct the circulation in transposition of the great arteries. The aortic and pulmonary roots are transected and “switched” to the appropriate ventricles. The most difficult aspect of this operation is the transfer of the right and left coronary arteries from the anterior native aortic root to the posterior pulmonary root that will become the neoaorta. The key elements of the Rastelli procedure, closure of a ventricular septal defect and placement of a conduit to connect the right ventricle to the pulmonary artery, are shown in Figure 5-68. This procedure is used for tetralogy of Fallot with pulmonary atresia, transposition of the great arteries with ventricular septal defect and severe pulmonic stenosis, and truncus arteriosus (pulmonary arteries arising directly from a truncal root that overrides a large ventricular septal defect, as shown in the diagram, on the left). The operation for a truncus arteriosus consists of closing the ventricular septal defect to direct all left ventricular outflow to the aorta, detachment of the pulmonary arteries from the aorta (truncus), and placement of a homograft conduit between the right ventricle and pulmonary arteries.

Figures 5-69, 5-70, and 5-71 show operations designed to treat aortic valve and systemic outflow tract disease. The Ross procedure (see Fig. 5-69) is an ingenious approach to the treatment of severe aortic stenosis or insufficiency when a valve replacement is required. The diseased aortic valve is removed, and the patient’s own pulmonary valve is autotransplanted to the aortic position. The coronary arteries must be reimplanted into the neoaortic root, and a pulmonary homograft is used to reconstruct the right ventricular outflow tract. This operation avoids the lifelong anticoagulation that would be required by a prosthetic aortic valve, but has a relatively high rate of reintervention, predominantly for dysfunction of the right ventricle-to-pulmonary artery homograft. Aortic stenosis with a small annulus is usually treated with a Konno procedure (see Fig. 5-70), which uses patch enlargement of the base of the ventricular septum to increase the size of the aortic annulus, allowing placement of an appropriately sized prosthetic aortic valve. This procedure may be combined with the Ross procedure. Figure 5-71 shows the Konno-Rastan procedure, in which a patch is used to enlarge the ventricular septum in order to relieve diffuse subaortic stenosis. Figure 5-68  Creation of a right ventricle–topulmonary conduit and closure of a ventricular septal defect for truncus arteriosus (Rastelli procedure).

TRUNCUS ARTERIOSUS Pulmonary trunk

Pulmonary homograft conduit Truncal root

Rastelli procedure

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Figure 5-69  Replacing the diseased aortic valve with the native pulmonary valve (Ross procedure).

171

AORTIC VALVE DISEASE Autograft of pulmonic valve

Pulmonary homograft

Ross procedure

Figure 5-70  Enlargement of the limited aortic annulus associated with severe aortic valve disease by patch enlargement of the ventricular septum and placement of a prosthetic valve (Konno procedure).

AORTIC STENOSIS WITH SMALL AORTIC ANNULUS

Prosthetic valve

Patch enlargement of ventricular septum Konno procedure

Figure 5-71  Enlargement of diffuse subaortic stenosis by patch enlargement of the ventricular septum and resection of a subaortic ridge (Konno-Rastan procedure).

DIFFUSE SUBAORTIC STENOSIS Patch enlargement of ventricular septum

Konno-Rastan procedure

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Figure 5-72  Bypass of subaortic stenosis due to a restrictive ventricular communication by creation of aortopulmonary anastomosis (Damus-Stansel-Kaye procedure).

DOUBLE INLET LEFT VENTRICLE WITH RESTRICTIVE VENTRICULAR COMMUNICATION Modified Blalock-Taussig shunt Ao

PA MRV

Ventricular communication

MLV

Damus-Stansel-Kaye procedure

Figure 5-72 illustrates the Damus-Stansel-Kaye procedure, which is used to relieve aortic outflow tract obstruction in the setting of complex heart disease. A double-inlet left ventricle with a restrictive ventricular communication that results in severe “functional” subaortic stenosis is one such example. The main pulmonary artery is transected, and the distal opening is oversewn along with connection of the proximal pulmonary root to the ascending aorta, in essence creating a bypass around the small ventricular communication that leads to the aorta. A modified Blalock-Taussig shunt is created to provide pulmonary blood flow. In Figure 5-72, “MLV” refers to the dominant morphologic left ventricle, which receives both atrioventricular valves. “MRV” refers to the hypoplastic morphologic right ventricle, which receives blood only via the ventricular communication and supports the aortic valve.

INTERVENTIONAL CARDIAC CATHETERIZATION Interventional cardiology developed as a subspecialty after William Rashkind introduced the balloon septostomy in the 1960s to alleviate cyanosis in transposition of the great arteries. In recent years the field has expanded explosively so that currently it plays a role in the treatment of almost every heart defect. Interventions can be classified according to the purpose to treat: 1. Valvular obstruction 2. Vascular stenosis 3. Creation or enlargement of defects 4. Closure of defects 5. Other

Valvular Obstruction Pulmonary Valve Stenosis/Atresia In general, intervention is indicated when peak-to-peak (right ventricle to pulmonary artery systolic) gradients are above 40 mm Hg as measured via cardiac catheterization. Balloon dilation has become the standard first-line treatment. In

pulmonic stenosis, balloon dilation is highly effective in the large majority of patients. However, the success rate is not as high for the so-called dysplastic pulmonary valve (common in Noonan syndrome), in which the valve is thick and often has associated supravalvular narrowing. For these valves, highpressure balloons may be necessary to achieve success. Efficacy is long lasting in most cases, although about 8% of individuals do require repeat dilation for restenosis. A special group of patients are the newborns with critical pulmonary valve stenosis, for which repeat dilation within the first year of life is not uncommon. Although dilation frequently results in regurgitation of the valve, because pulmonary artery resistance is normally quite low, the physiologic consequences of the insufficiency are rarely significant. Thus the main longterm issues are observation for the rare case of restenosis. In the newborn period intervention is necessary in those with critical pulmonary stenosis and ductal-dependent circulation, presenting with severe cyanosis. In this setting it is common to see associated variable degrees of right ventricular hypoplasia and even cavitary obliteration. The right ventricle most often remodels over time to allow a normal biventricular circulation; however, it may take several weeks or months for resolution of right-to-left shunt across the patent foramen ovale. Typically, the prostaglandins that are used to promote ductal patency before the procedure are discontinued after balloon dilation. Some patients may require ongoing prostaglandin therapy for a few days or even weeks, particularly if the severity of the right ventricular hypoplasia is marked. Transcatheter placement of a stent in the ductus arteriosus has become an attractive alternative to surgical palliation for those patients who cannot wean off prostaglandins. Patients with membranous pulmonary atresia can undergo radiofrequency-assisted valve perforation followed by balloon valvotomy (Fig. 5-73). Although successful perforation has been reported in up to 75% to 90% of selected patients, the procedure is definitive for only 35% because they commonly require additional intervention, either transcatheter or surgical. Aortic Valve Stenosis Although a few centers in the world continue to perform surgical valvotomies for aortic stenosis, most prefer balloon valvotomy as the procedure of choice. In the newborn, severe

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173

PA

*

RV

RV

A

B

C

Figure 5-73  Pulmonary valve stenosis or atresia. A, A right ventricular angiogram in the lateral projection shows atresia of the pulmonary valve. B, After radiofrequency perforation of the pulmonary valve, balloon dilation is performed. C, After dilation there is an open pathway between the right ventricle (RV) and pulmonary artery (PA).

aortic stenosis can present as critical with ductal-dependent systemic circulation. Transcatheter balloon dilation can be performed with antegrade (femoral vein or umbilical vein to left ventricle and aorta via the foramen ovale) or retrograde (umbilical artery or femoral artery). For premature babies, the carotid artery approach is a good alternative to avoid femoral arterial damage. At present the procedure can be performed with low-profile balloons, which can be advanced via a 3-French sheath in the femoral artery, with significantly reduced incidence of iliofemoral artery thrombosis. Natural history data for aortic stenosis have suggested that a peak-to-peak gradient across the valve of more than 50 mm Hg represents obstruction severe enough that intervention is preferable to observation and “medical management.” Aortic stenosis represents a very different circumstance regarding success compared with pulmonary valve stenosis. All known forms of therapy including balloon dilation, surgical valvotomy, or replacement of the valve are palliative given that further surgery will be necessary at some point in almost all cases. Balloon dilation of the aortic valve creates small tears in the fused commissures of leaflets that result in an increase in the valve orifice size. Some degree of aortic insufficiency is commonly present after the procedure. Attempts to completely alleviate obstruction by using overly large balloons result in an unacceptable amount of regurgitation. Thus even after successful balloon dilation, patients commonly have residual obstruction and/or insufficiency. The benefit achieved after aortic valve dilation is of variable duration. In one report the intervention-free rate of survival was 50% to 60% at 10 years after dilation. The need for subsequent intervention may be due to recurrent obstruction, insufficiency, or both. In the first instance repeat valve dilation is an option. Mitral Stenosis Isolated congenital mitral valve stenosis is rare, occurring more commonly in association with other left-sided obstructive lesions, as in patients with Shone syndrome or other complex congenital heart disease. Congenital mitral valve stenosis has proven to be a somewhat intractable condition, with a high mortality rate. Given the palliative nature of any intervention for patients with congenital mitral stenosis, newborns that present with a severe form of this condition are typically managed as patients with hypoplastic left heart syndrome. Mitral balloon valvotomy beyond the newborn period can be effective and may have a lasting beneficial result, especially for rheumatic mitral valve stenosis. However, for congenital mitral valve stenosis, the procedure should be considered palliative and potentially able to delay the need for mitral valve replacement in a small child.

Vascular Stenosis Pulmonary Artery Stenosis Peripheral pulmonary artery stenosis can be congenital or acquired after cardiac surgery and constitutes 2% to 3% of congenital heart disease. Congenital pulmonary artery stenosis can occur in isolation or be associated with other congenital heart defects (most commonly, tetralogy of Fallot with or without pulmonary atresia). As a primary lesion, it may be idiopathic or occur in the presence of syndromes, such as congenital rubella, Williams syndrome, and Alagille syndrome. Results of surgery for any of these branch pulmonary artery stenoses have been quite unsatisfactory. In addition, surgery cannot treat peripheral stenoses within the lungs. Thus balloon angioplasty has become the first-line therapy for these patients. In general, indications for balloon dilation include an elevated right-to-left ventricular systolic pressure ratio of more than 50%, right ventricular failure, angiographic narrowing, contralateral pulmonary arterial hypertension, and abnormal perfusion by lung scintigraphy. Although there are no contraindications to this procedure by age or size, newborns with severe branch pulmonary artery stenosis should undergo balloon angioplasty only if severely symptomatic. Either discrete stenoses or long diffuse hypoplastic pulmonary arteries can be dilated, with success rates of 50% to 75%. With the use of high-pressure balloons, the success rate is on the order of 75%. Most recently the cutting balloon (Fig. 5-74) has been used for resistant lesions, significantly increasing the success rate of balloon pulmonary angioplasty. In addition, stent implantation allows a significant improvement in success rates to more than 90% (Fig. 5-75). However, not all lesions

Figure 5-74  Cutting balloon. Note the four tiny blades along the balloon surface.

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*

*

LPA

A

LPA

B

Figure 5-75  Pulmonary artery angioplasty. Note the left pulmonary artery (LPA) stenosis demonstrated on the pulmonary artery angiogram (A); after stent implantation the stenosis has been eliminated (B).

are amenable to stent implantation. There are theoretical disadvantages to placing stents in infants, including more difficult vascular access and the need for subsequent dilations to keep up with somatic growth. Nevertheless, some lesions that have not responded to dilation alone or surgery can be managed successfully by stent implantation, regardless of the patient’s age. Aortic Coarctation Balloon dilation of native coarctation of the aorta remains a controversial subject. In general, indications for intervention in infants and children, whether surgical or transcatheter placement, include the presence of anatomic coarctation associated with a systolic pressure gradient between the upper and lower extremities of more than 20 mm Hg or a systolic blood pressure greater than 95% for age or the presence of left ventricular dysfunction. Because of the high restenosis rate during the first month of life, intervention is indicated in this age group only in symptomatic patients with congestive heart failure, failure to thrive, or upper extremity hypertension associated with left ventricular dysfunction. Surgery is considered the management approach of choice for neonates and young infants with severe coarctation, given the unacceptably high incidence of restenosis after balloon angioplasty (at least 50%). However, there are specific clinical conditions in which

balloon dilation of a native coarctation in infants can be considered as the procedure of choice: patients with high surgical risks due to severe left ventricular dysfunction and unstable hemodynamic condition, severe pulmonary hypertension or other pulmonary diseases that would significantly increase the risk of thoracotomy, and recent intracranial hemorrhage or other major systemic disorders. Recurrence of stenosis after balloon dilation decreases as the patient’s age increases, reaching about 10% for children older than 2 years of age. The procedure is generally safe, with a mortality rate less than 1% and aneurysm formation rates of 7%. In patients who present after adolescence and into adulthood, transcatheter stenting of the coarctation is widely gaining acceptance as appropriate first-line treatment or at least as an acceptable alternative to surgery (Fig. 5-76). The transcatheter approach is particularly appealing in the absence of any significant collateral vessels when surgical repair would have higher risk for spinal cord ischemia. Dilation with stent placement results in effective relief of the obstruction in 92% to 100% of cases. For patients with postoperative recurrent or residual coarctation, balloon angioplasty is considered the procedure of choice, regardless of the type of previous surgical repair. Success occurs in more than 90% with a restenosis rate of

* Ao

Ao

A

*

B

Figure 5-76  Coarctation angioplasty. Note the severe coarctation of the aorta (*) shown by angiography in the descending aorta (Ao) (A); after balloon angioplasty and stent implantation the coarctation has been eliminated (B).



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less than 20%. Mortality is 0.7%, with a low incidence of aneurysm formation of less than 2%. Systemic or Pulmonary Vein Stenosis Symptomatic systemic venous obstruction can occur in infants and children after cardiac surgery or after placement of chronic indwelling lines. Indications for intervention include symptoms of systemic venous hypertension, superior vena cava syndrome, and chronic pleural effusions (associated with elevated central venous pressure). Balloon dilation of venous stenoses has been performed since the mid-1980s. Although the immediate success rate is more than 90% for balloon dilation alone, the restenosis rate is more than 50%, suggesting that stent implantation should be considered as first-line therapy. Pulmonary vein stenosis is generally an intractable disease, occurring either as a congenital lesion or postoperatively. Balloon dilation and stent implantation can serve only as short-term palliation for symptomatic patients awaiting heart–lung transplantation. Hemodynamic and angiographic improvement are seen immediately in almost all patients. However, restenosis occurs in virtually all cases within a few months of intervention.

Creation or Enlargement of Defects Balloon Atrial Septostomy After its initial introduction by Rashkind and Miller in 1966, balloon atrial septostomy to improve atrial mixing and increase systemic oxygen saturation has become an essential intervention in the management of most patients with transposition of the great arteries and other forms of congenital heart disease with transposition-like physiology (i.e., some forms of double-outlet right ventricle). At most centers, balloon atrial septostomy is performed routinely on patients with dextrotrans­ position of the great arteries and intact ventricular septum, many times in the intensive care unit under echocardiographic guidance. In patients with left-sided obstructive lesions, a thick atrial septum, small left atrium, and restrictive atrial septal defect, balloon atrial septostomy is rarely successful. For these patients, other techniques of atrial septal defect creation and septoplasty (using a static balloon dilation approach) are preferred. The success rate of balloon atrial septostomy in newborns is higher than 98%, with a low complication rate. Atrial Septoplasty/Blade Septostomy Because balloon atrial septostomy is not feasible in newborns with an intact atrial septum or a thick septum, other techniques for septal defect creation are warranted for these patients. Blade atrial septostomy was developed by Sang Park for this purpose (Fig. 5-77). Alternative techniques currently used are a combination of Brockenbrough transseptal puncture followed by serial balloon dilations using angioplasty balloons, including the cutting balloon, and occasionally stent implantation.

Figure 5-77  Atrial septostomy devices. Note the Rashkind balloon (top) and Park blade (bottom) septostomy catheters (Cook Medical, Bloomington, Ind).

adult heart. Two devices are currently approved in the United States for closure of an atrial septal defect: the Amplatzer septal occluder (AGA Medical, Golden Valley, Minn) (Fig. 5-78) and the Gore Helex septal occluder (W.L. Gore & Associates, Flagstaff, Ariz). The procedure is performed under transesophageal or intracardiac echocardiographic guidance (Fig. 5-79). Several studies have documented that the efficacy of device closure compares favorably with surgery, with high closure and low complication rates. Late perforations after device closure have been reported to occur up to several years after device implantation; however, these have been rare. Ventricular Septal Defects Most ventricular septal defects (VSDs) cannot be closed with devices because of the significant size of the defect in relatively small hearts, as well as the proximity to intracardiac valves, particularly the tricuspid and aortic valves. An option to overcome the limitations of the technique in a small child is a combined hybrid catheterization–surgical approach. In this method the heart is exposed via a thoracotomy and the device delivery catheter advanced through the free wall of the right ventricle and across the defect. The device is then opened under echocardiographic guidance. This technique has the advantage of avoiding cardiopulmonary bypass and may be particularly useful for ventricular septal defects located in portions of the heart difficult to reach by standard open surgical technique. The CardioSEAL device (NMT Medical, Boston) (Fig. 5-80) as well as the Amplatzer muscular VSD occluder are currently approved for closure of muscular ventricular septal defects. The latter is the most widely used.

Closure of Defects Atrial Septal Defects At present, most secundum atrial septal defects are closed via the transcatheter deployment of devices. However, some atrial defects are not amenable to device closure because of the lack of an adequate rim of tissue around the defect to anchor the device. Atrial septal defects of the sinus venosus type or ostium primum defects cannot be closed with devices. Although devices are available to close large holes (up to 38 mm in diameter), the larger devices will fit only in a large

Figure 5-78  Device closure of atrial septal defect. Note the Amplatzer septal occluder device held outstretched from each disk to demonstrate its architecture. Two disks and a central waist, which occludes the defect, are shown.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 5-79  Illustration of placement of Amplatzer septal occluder. Note that the delivery sheath is advanced across the defect into the left atrium, and the device is partially extruded out of the sheath with opening of the left atrial disk (A); after withdrawal of the sheath the device has been deployed with the right atrial disk opened on the right side of the septum, and the device has been detached from the delivery cable (B).

A

B

Patent Ductus Arteriosus In patent ductus arteriosus (PDA), small and moderate patent ducts are typically closed in the catheterization laboratory with either embolization coils or the Amplatzer duct occluder (Fig. 5-81), whereas large symptomatic PDAs in the newborn are treated surgically. Transcatheter closure of patent ducts has been highly successful, with efficacy of more than 97% and a low complication rate.

Figure 5-80  CardioSEAL device (NMT Medical, Boston, Mass).

Although high success rates have been reported with transcatheter closure of ventricular septal defects, in the United States the procedure is currently still reserved for defects that are difficult to close surgically or for a combined surgical– interventional catheter approach in some patients.

Other Transcatheter Techniques Closure of Collaterals Lesions amenable to closure by embolization therapy include systemic venous anomalies (i.e., left superior vena cava to left atrium) or aortopulmonary collaterals, pulmonary sequestration, or congenital arteriovenous malformations. Coil embolization of collaterals is one of the most common procedures in children with congenital heart disease associated with aortopulmonary collateral vessels. Percutaneous Pulmonary Valve Implantation In January 2010 the U.S. Food and Drug Administration approved the Melody valve (Medtronic, Minneapolis, Minn) for percutaneous implantation in the pulmonary position in patients with dysfunctional right ventricle-to-pulmonary

Ao

Ao

MPA

A

B

Figure 5-81  Closure of patent ductus arteriosus. Note that the descending aorta (Ao) angiogram shows a patent ductus (arrow) entering the main pulmonary artery (MPA) (A); a repeat angiogram after placement of an Amplatzer duct occluder demonstrates that the ductus is completely closed (B).

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177

Figure 5-82  Melody percutaneous pulmonary valve. A bovine jugular venous valve is sewn on a platinum iridium stent. Valve leaflets within the stent are shown on oblique view (left).

artery conduits implanted surgically at the time of repair of certain congenital heart defects. This novel technology may delay the need for surgical conduit replacement. The valve is a bovine jugular venous valve mounted on a CP stent (NuMED, Hopkinton, NY), which is a platinum iridium stent, and is MRI compatible (Fig. 5-82). This has become an option for patients with pulmonary conduit stenosis and/or insufficiency, allowing restoration of pulmonary valve function. The valve is implanted within the existing conduit, which is expanded up to the original size. Available sizes range from 18 to 22 mm in diameter. The technique of Melody valve implantation within a stenotic right ventricleto-pulmonary artery conduit is illustrated in Figures 5-83 through 5-85. This procedure may also benefit selected patients with tetralogy of Fallot who were initially repaired without a conduit and have developed severe pulmonary regurgitation years later.

Miscellaneous Reopening of thrombosed vessels or surgical anastomoses can be performed by transcatheter thrombolysis with good results, although the experience in pediatrics is relatively limited. Other interventions include retrieval of foreign bodies, preservation of ductal patency by means of stents, coil embolization of coronary artery fistulae, and some novel catheter interventions such as prenatal interventions (for opening of stenotic valves or a restrictive atrial septum). Many complex hemodynamic and anatomic abnormalities are now addressed by a “hybrid approach,” with the surgeon and interventional cardiologist working side by side in the catheterization laboratory, which also functions as an operating room. These innovative procedures are likely to be only a preview of what will be possible and even commonplace in the next decade as the field of interventional catheterization continues to advance and expand.

Figure 5-83  Stenotic right ventricle–to–pulmonary artery conduit. Severe conduit stenosis (arrow) is demonstrated in right anterior oblique view (left) and lateral projection (right) in a patient after surgical repair of congenital heart disease. Conduit was 22 mm in diameter at implantation and over time developed progressive stenosis resulting in less than half the original dimension, causing severe right ventricular hypertension.

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Figure 5-84  Partially expanded Melody valve within stent. After expansion of conduit by balloon dilation and stent implantation (arrows), the Melody valve is advanced into the stent and partially expanded with inner balloon. Right anterior oblique (left) and lateral (right) projections are shown.

Figure 5-85  Melody valve deployment. Valve is fully expanded by outer balloon and deployed within the stent in the conduit (left). Angiogram in pulmonary artery (PA) after Melody valve implantation (arrow) demonstrates competent valve with no opacification of the right ventricle.

Bibliography Beerman LB, Arora G, Park SC: Arrhythmias in the intensive care unit. In Munoz RA, Morell VO, da Cruz EM, Vetterly CG, editors: Critical care of children with heart disease, London, 2010, Springer-Verlag. Bush DM: Evaluating cardiovascular presentations: what does an electrocardiogram have to offer? Pediatr Ann 34:858–869, 2005. Case CL: Diagnosis and treatment of pediatric arrhythmias, Pediatr Clin North Am 46:347–354, 1999. Chun TUH, Van Hare GF: Advances in the approach to treatment of supraventricular tachycardia in the pediatric population, Curr Cardiol Rep 6:322– 326, 2004. Du ZD, Hijazi ZM, Kleinman CS, et al: Comparison between transcatheter and surgical closure of secundum atrial septal defect in children and adults: results of a multicenter nonrandomized trial, J Am Coll Cardiol 39:1836– 1844, 2002.

Ettedgui JA, Tersak JM: Cardiological aspects of systemic disease. In Anderson RH, Macartney FJ, Shinebourne EA, et al, editors: Paediatric cardiology, vol 2, ed 2, Edinburgh, 2002, Churchill Livingstone, pp 1777-1808. Fischer DR, Baker EJ, Anderson RH: Echocardiographic manifestation of ventricular septal defects. In Anderson RH, Neches WH, Park SC, et al, editors: Perspectives in pediatric cardiology, vol 2, Mount Kisco, NY, 1988, Futura Publishing, pp 25-33. Fontan F, Baudet E: Surgical repair of tricuspid atresia, Thorax 26:240–248, 1971. French JW, Guntheroth WG: An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect, Circulation 42:31–36, 1970. Glenn WW, Patino JF: Circulatory bypass of the right heart. Preliminary observations on the direct delivery of vena caval blood into the pulmonary arterial circulation: azygos vein pulmonary artery shunt, Yale J Biol Med 24:147, 1954.

Greenwood RD: Cardiovascular malformations associated with extracardiac anomalies and malformation syndromes, Clin Pediatr 23:145–151, 1984. Hernandez-Pampaloni M, Allada V, Fishbein MC, et al: Myocardial perfusion and viability by positron emission tomography in infants and children with coronary abnormalities: correlation with echocardiography, coronary angiography, and histopathology, J Am Coll Cardiol 41:618–626, 2003. Humpl T, Soderberg B, McCrindle BW, et al: Percutaneous balloon valvotomy in pulmonic atresia with intact ventricular septum: impact on patient care, Circulation 108:826–832, 2003. Kirklin JW, Barratt-Boyes BG, editors: Cardiac surgery, vol 1, ed 2, New York, 1993, Churchill Livingstone, p 546. Konno S, Imai Y, Iida Y, et al: A new method for prosthetic valve replacement in congenital aortic stenosis associated with hypoplasia of the aortic valve ring, J Thoracic Cardiovasc Surg 70:909–917, 1975. Kreutzer J, Lock JE, Jonas RA, et al: Transcatheter fenestration dilation and/or creation in postoperative Fontan patients, Am J Cardiol 79:228–232, 1997. Kreutzer J, Perry SB: Stents. In Lock JE, Keane JF, Perry SB, editors: Diagnostic and interventional catheterization in congenital heart disease, ed 2, Norwell, Mass, 2000, Kluwer Academic Publishers, pp 221-243. Kugler JD, Danford DA: Management of infants, children and adolescents with paroxysmal supraventricular tachycardia, J Pediatr 129:324–328, 1996. McElhinney DB, Hellenbrand WE, Zahn EM, et al: Short- and medium-term outcomes after transcatheter pulmonary valve placement in the expanded multicenter US Melody Valve Trial, Circulation 122:507–516, 2010. National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents: The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents, Pediatrics 114(Suppl 2):555–576, 2004. Newburger JW, Takahashi M, Gerber MA, et al: Diagnosis, treatment, and long-term management of Kawasaki disease: a statement for health professionals from the Committee on Rheumatic Fever, Endocarditis and Kawasaki Disease, Council on Cardiovascular Disease in the Young, American Heart Association, Circulation 110:2747–2771, 2004. Norwood WI Jr: Hypoplastic left heart syndrome, Ann Thorac Surg 52:688– 695, 1991.

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Park SC, Neches WH, Zuberbuhler JR, et al: Clinical use of blade atrial septostomy, Circulation 56:600–606, 1978. Park SC, Zuberbuhler JR: Vascular ring and pulmonary sling. In Anderson RH, Macartney FJ, Shinebourne EA, et al, editors: Paediatric cardiology, vol 2, ed 2, Edinburgh, 2002, Churchill Livingstone, pp 1559-1577. Pelech AN: Evaluation of the pediatric patient with a cardiac murmur, Pediatr Clin North Am 45:167–188, 1999. Perry SB, Radtke W, Fellows KE, et al: Coil embolization to occlude aortopulmonary collateral vessels and shunts in patients with congenital heart disease, J Am Coll Cardiol 13:100–108, 1989. Rashkind WJ, Miller W: Creation of an atrial septal defect without thoracotomy: palliative approach to complete transposition of the great arteries, JAMA 196:991–992, 1966. Robinson B, Anisman P, Eshaghpour E: A primer on pediatric ECGs, Contemp Pediatr 11:69–94, 1994. Rome JJ, Kreutzer J: Pediatric interventional catheterization: reasonable expectations and outcomes, Pediatr Clin North Am 51:1589–1610, 2004. Rowan S, Adroques H, Mathur A, et al: Pediatric hypertension: a review for the primary care provider, Clin Pediatr 44:289–296, 2005. Senning A: Surgical correction of transposition of the great vessels, Surgery 45:966–980, 1959. Sharieff GQ, Rao SO: The pediatric ECG, Emerg Med Clin North Am 24:195– 208, 2006. Spicer RL: Cardiovascular disease in Down syndrome, Pediatr Clin North Am 31:1331–1343, 1984. Swenson JM, Fischer DR, Miller SA, et al: Are chest radiographs and electrocardiograms still valuable in evaluating new pediatric patients with heart murmurs or chest pain? Pediatrics 99:1–3, 1997. Tingelstad J: Consultation with the specialist: cardiac dysrhythmias, Pediatr Rev 22:91–94, 2001. Yeager SB, Flanagan MF, Keane JF: Catheter intervention: balloon valvotomy. In Lock JE, Keane JF, Perry SB, editors: Diagnostic and interventional catheterization in congenital heart disease, ed 2, Norwell, Mass, 2000, Kluwer Academic Publishers, pp 151-178. Yi MS, Kimball TR, Tsevat J, et al: Evaluation of heart murmurs in children: cost-effective and practical implications, J Pediatr 141:504–511, 2002. Zuberbuhler JR: Clinical diagnosis in pediatric cardiology, Edinburgh, 1981, Churchill Livingstone.

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CHILD ABUSE AND NEGLECT

6 

Holly W. Davis  |  Mary M. Carrasco

Child abuse and neglect constitute a pediatric public health

problem of enormous magnitude. Their relative contribution to morbidity and mortality in children is likewise huge. In addition to the fact that more than 900,000 children are identified as substantiated victims each year, approximately 140,000 incur serious injuries and nearly 20,000 are left with permanent physical disabilities such as cerebral palsy and blindness. The toll on emotional development is even more significant. The incidence of reported cases of abuse and neglect has increased within much of the twentieth century, in part due to improved identification and reporting. Whereas in the past 20 years there has been a decline in substantiated cases of physical and sexual abuse, there has been no change in mortality rates. Caffey in the late 1940s and then Kempe and coworkers in the early 1960s fostered a marked increase in the recognition of the physical manifestations of abuse and of the very real needs and problems of child abuse victims. Subsequent passage of legislation in all 50 states mandating that suspected cases be reported to the proper authorities has further increased the incidence of reporting. Thus, although some of the increasing incidence is real, much is probably the result of these developments. In addition, societal standards have changed, for some of what is currently regarded as abuse was once sanctioned as discipline. Four major forms of abuse have been delineated: physical abuse, sexual abuse, physical neglect, and emotional abuse. Not infrequently, an individual child is found to be the victim of more than one form and there is some degree of emotional abuse with all forms. For purposes of reporting under child protection laws, the abuse or neglect generally must result from the acts or omissions of a parent, guardian, custodian, or other caretaker of the child. Of reported cases about 60% involved neglect, 19% physical abuse, 9% sexual abuse, and 5% were identified as emotionally maltreated. These figures may significantly underestimate the actual number as it is estimated that for every case reported, at least two go unreported. Clearly, some, perhaps many, reports concerning truly abused children are inaccurately determined to be unfounded, sometimes because regulations preclude this if a perpetrator cannot be clearly identified despite the fact that the child has clearly been the victim of abuse. Misleading/deceptive histories, limited investigative resources, lack of witnesses, inability or unwillingness of victims and family members to attest to the fact that abuse has occurred, and jurisdictional regulations all contribute to this phenomenon. Fatality statistics have also been found to have limited accuracy. The National Child Abuse and Neglect Data System (NCANDS) estimates that there were about 1740 deaths in 2008. This is an increase from approximately 1500 cases in 2003 and is likely due to recent improvements in the reporting and investigation of child fatalities. This in turn probably reflects improved recognition of child abuse–related deaths as a result of the institution of child death review teams in most

states. Of fatal victims, 40% to 50% are younger than 1 year of age, and 85% to 90% are 5 years of age or younger. Researchers looking at data from additional sources have determined that many, perhaps the majority, of deaths due to abuse are misclassified as due to accident, sudden infant death syndrome (SIDS), or natural or unknown causes. Reasons for misclassification include incomplete medical evaluation; delay in or inadequate death scene investigation, or no scene investigation; lack of sufficient training of coroners and pathologists regarding child abuse and the techniques and studies necessary to identify abuse at autopsy; failure to require manner of death, as well as cause, on death certificates; and poor communication among investigative agencies. Thus most authorities believe 2000 deaths per year is a more accurate figure, although this, too, may be a significant underestimate. To put this in further perspective, the number of deaths due to abuse of children younger than 5 years is greater than the number due to motor vehicle accidents and fires combined and is more than twice the number of deaths due to accidental choking or suffocation, drowning, and falls combined. The most common causes of death due to abuse are head trauma, abdominal trauma, and suffocation. Of these, intentional suffocation is most likely to go undetected, as autopsy findings may simulate SIDS. It now appears that a large percentage of cases of SIDS are actually due to accidental suffocation as a result of sleeping prone on a soft surface, of getting the face covered in bed clothing, or of co-sleeping with one or more adults whether in bed or on a sofa or easy chair. The Back to Sleep campaign, begun by the National Institute of Child Health and Human Development, and efforts to educate parents about the risks of co-sleeping have dramatically reduced the incidence of these tragic deaths. Further review of co-sleeping deaths points to a disturbing number of cases in which the adult sleeping with the child has a history of substance misuse. All sudden unexpected deaths in infancy warrant thorough investigation to facilitate accurate determination of cause, assess for possible foul play, and aid in future prevention. Certain historical points and physical findings may aid in distinguishing SIDS from intentional suffocation. Infants dying of SIDS are usually younger than 6 months of age, previously well (or have only mild symptoms of an upper respiratory infection), and found unresponsive in the early morning when their parents awaken. In contrast, those dying of intentional suffocation may range from weeks to 2 or 3 years of age and are more likely to be “found” sometime between mid-morning and late afternoon or evening, after a period of being with a single caretaker. In some, subtle bruises or petechiae of the face and/or neck or scant bleeding from the nose or mouth may be noted. Many of these infants have a history of a recent hospitalization for an unexplained illness or for apnea, seizurelike activity, or an apparent life-threatening event (ALTE), for which no cause could be found despite an extensive medical workup. This or a past history of multiple apparent lifethreatening events and/or a history of two or more prior 181

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sibling deaths attributed to SIDS should raise strong suspicion of intentional smothering.

EPIDEMIOLOGY Child abuse is a phenomenon found in all socioeconomic, cultural, racial, ethnic, and religious subsets of society. The reported incidence per capita is greatest in lower socioeconomic groups. This stems in part from the numerous chronic stresses and uncertainties of living in poverty, problems of socialization, and different attitudes regarding what constitutes appropriate discipline. It is also clear, and must be recognized by physicians and other professionals, that welleducated parents of higher socioeconomic status can be abusive; however, when they are, they are less likely to be suspected. This is in part because they “come across well” as they tend to be well dressed, well spoken, more sophisticated, and have a more confident demeanor than parents who are less well off. Also, they are often better able to fabricate a plausible history of how the injury occurred “accidentally.” Furthermore, when suspected, they are less likely to be reported, and when reported, they are more likely to have the resources and legal assistance to have the case dropped or dismissed, or to be acquitted of the charges. Hence in evaluating potential abuse victims and their families, it is important not to rush to judgment of parents on the basis of appearance, dress, and level of sophistication, and professionals should appreciate that many parents who are poor, unsophisticated, and not well dressed are loving and caring despite their limited means and resources. The most valuable information is gained by a nonjudgmental approach while keeping an open mind in obtaining a thorough history, making careful behavioral and interactional observations, performing meticulous examination, and ordering a well-considered laboratory and imaging evaluation before arriving at a diagnosis.

Parental Risk Factors for Child Abuse and Neglect 1. Past history of being abused or neglected as a child. Although this is a significant risk factor, it is important to note that not all abused children grow up to become abusive adults. Those who do not have been found to have had a strong, long-standing, and supportive relationship, from early childhood, with a nurturing and nonabusive adult who loved them unconditionally, helped them recognize their own worth, and taught them how to make good choices. This enables them to develop trusting relationships and, hence, better social support systems. 2. Poor socialization and emotional and social isolation. Inadequately nurtured themselves as children, these parents are poorly equipped to adequately nurture their offspring. Their own mothers may not have bonded well with them, and/or their trust may have been betrayed repeatedly by those they loved unconditionally and should have been able to count on most. They may have been shuttled back and forth between the parental home and relatives’ or foster homes or placed in a series of foster homes over the course of years. As a result, they have trouble with trust and forming close attachments, and hence, are poorly equipped to develop and use support systems. They tend to have little understanding of child development and of children’s emotional and other needs and, therefore, of good child-rearing practices and reasonable expectations of child behavior. E-Tables 6-1 and 6-2 present common features of many of the families of origin of abusive parents/

caretakers, as well as their child-rearing practices, which then tend to be repeated by these younger parents and by ensuing generations. E-Table 6-3 presents common character traits and historical revelations of many poorly socialized parents/caretakers and of those with character disorders. 3. Limited ability to deal adaptively with stress and negative emotions such as fear, anger, and frustration, compounded by a tendency to lash out violently, verbally and/or physically, in response to negative feelings. This behavior is often learned by example in their families of origin. 4. Alcoholism/substance abuse. When intoxicated or high, such parents may be “out of it” or may be disinhibited in approaching or dealing with their children. They also may be away for extended periods, seeking their substance of choice or the wherewithal to obtain it. 5. Mental illness (e-Table 6-4). 6. Domestic violence in the parental relationship. 7. Being subjected to a sudden spate of major life stresses/ crises such as loss of job and financial security; loss of home; loss of parent, spouse, or sibling. 8. Membership in certain fringe group cults or sects.

Child Risk Factors 1. Age younger than 3 years. 2. Being separated at birth from a mother at high risk for problems with attachment because of illness or prematurity, resulting in impaired bonding. 3. Being the product of an unplanned/unwanted pregnancy, with a mother who sought little or no prenatal care. 4. Being small for gestational age, born with congenital anomalies, and/or having a chronic illness (possibly due to parental grieving and guilt, compounded by the chronic stress of caring for a handicapped child). 5. Being perceived as difficult or different. 6. Having attention-deficit/hyperactivity disorder (ADHD) or being oppositional or defiant. 7. Foster children and adopted children. Two situations place children at particularly high risk for abuse. One involves a couple with an unplanned pregnancy that one parent did not want and then pushed for abortion, and which the other insisted on carrying to term. After delivery, such infants can be at significant risk when left alone in the care of the parent who opposed the pregnancy. The other involves a common pattern in which a young (often teenage) mother who has trouble with attachment and low self-esteem mistakes “attention” and sex for love and, thus, has poor judgment in her selection of boyfriends. These young women may then have a revolving door for paramours who opportunistically move in for weeks to months and then leave only to be replaced by another. These men also tend to have attachment issues and often have poor impulse control. Further, they have no vested interest in her offspring by other men and thus may have no compunction about “batting them around” when they become a source of irritation, misbehave, or have accidents while these men are “babysitting.” One common thread connecting all of these risk factors appears to be one of unmet expectations, due to either unrealistic parental expectations of the child or the child’s inability to meet realistic expectations as the result of developmental

6  |  Child Abuse and Neglect



delay, illness, temperament, hyperactivity, or inconsistent disciplining. Typically this stems from lack of parental understanding of normal child behavior and emotional development, and of their children’s basic needs for nurturing. The combination can then lead the parent or caretaker to attribute malicious intent to an infant who will not stop crying or to a toddler who has had a toilet training accident, is stubborn, or misbehaves. Once “malicious intent” is suspected, this can incite rage in someone with a short fuse. With this background information, the approach to diagnosis of the major forms of abuse can now be addressed more specifically.

PHYSICAL ABUSE Physical abuse is defined as the infliction of bodily injury that causes significant or severe pain, leaves physical evidence, impairs physical functioning, or significantly jeopardizes the child’s safety. Individual states have varying definitions of what constitutes abuse reportable to Child Protective Services (CPS) and law enforcement agencies, and practitioners should become familiar with the guidelines in their own states. Many of the methods used by perpetrators are listed in Table 6-1, and weapons commonly employed are detailed in Table 6-2. Infants and toddlers are at greatest risk for physical abuse because they are unable to escape attack, and are developmentally incapable of meeting many expectations and of knowing when to “keep a low profile.” Given their small size and physical immaturity, they are also the most vulnerable to severe injury. Common triggers for abusive behavior toward infants are crying, especially prolonged or inconsolable crying, and feeding problems. Crying may be due to hunger; pain with illness such as otitis media and esophagitis with gastroesophageal reflux; gas pain due to aerophagia either precipitated by or induced by respiratory disease or frequent feeding interruptions in avid feeders; and pain from prior inflicted trauma (rib or extremity fractures or CNS irritability from head injury). Feeding problems may stem from neurologic or oral–motor disorders, oropharyngeal deformities (such as cleft palate), or pain on swallowing due to oral lesions or reflux-induced esophagitis. With toddlers, difficulties in toilet training, toileting accidents, getting into things they are not supposed to touch, and stubbornness or negativism are common inciting factors. Failure to follow orders or instructions, oppositional or defiant behavior, and getting into trouble at school are notable triggers of abuse of older children. The spectrum of severity of injuries caused by physical abuse ranges from isolated surface bruising that may be a

Table 6-1

Methods Used in Physical Abuse

Hitting—hand, fist, weapon Grabbing with squeeze, pinch, twist, yank, or snap Shaking Throwing Swinging Kicking Stomping Burning—scalds, contact burns Biting Hair pulling Holding hand over face to stifle crying Prolonged squeezing of chest Smothering/strangling Holding under water

Table 6-2

183

Weapons Commonly Used in Physical Abuse

Hands/fists/feet Switch/rod/stick/TV antenna/ruler/broom Looped extension or cable TV cord Paddle Kitchen utensil—wooden spoon/spatula/fork Hairbrush/comb Coat hanger Shoe/slipper Rope/cord/chain/tourniquet Hot liquids Hot objects—iron/curling iron/hair dryer/space heater/cigarette/match/ lighter/stove burner

product of overzealous discipline to fatal head and abdominal trauma that is the result of extremely violent rage reactions. Important to remember is that relatively unimpressive surface marks or injuries may be associated with far more significant underlying skeletal, abdominal, and CNS trauma (see Fig. 6-13). In addition, it is well known that physical abuse tends to be repetitive and that the severity of attacks tends to escalate over time; so does, correspondingly, the severity of injuries. Given this, early recognition, reporting, and intervention are essential in prevention of increased morbidity and mortality. Early recognition can be difficult for a number of reasons. Children with milder injuries generally are not brought to medical attention and may even be kept from those outside the immediate family until visible bruises or other surface injuries fade. Further, when care is sought, a misleading or deceptive history is almost always given. If a plausible history of accidental injury is provided (as can be the case with more sophisticated abusive parents), abuse may go unsuspected. However, when emergency department physicians make it a general practice to disrobe children and perform a complete surface examination on all those who present with mild or minor trauma, the diagnosis of otherwise unsuspected abuse rises dramatically because of identification of suspicious physical findings on other areas of the body, especially those ordinarily covered by clothing. Because presenting signs and symptoms are often nonspecific, recognition can be particularly challenging when the victim of mild to moderate inflicted trauma is a young infant and has no surface injuries or ones that are subtle and easily overlooked. Listlessness or lethargy, irritability or fussiness, vomiting (usually without diarrhea), low-grade fever, and vague complaints of trouble with breathing in infants with milder degrees of inflicted head injury can easily be interpreted as being due to early viral infection. Irritability due to pain from rib and metaphyseal fractures may be mistakenly diagnosed as due to colic or constipation (which may coexist due to stool withholding secondary to pain). Grunting respirations due to rib pain are likely to be attributed to early pulmonary disease such as bronchiolitis or pneumonitis. Relatively rapid dissipation of pain and tenderness (often within 2 to 5 days) in infants with nondisplaced fractures (due to their thick periosteal covering, which resists tearing and promotes prompt healing) can add to the diagnostic difficulty, particularly when presentation is delayed. Hence diagnosis requires a high index of suspicion when infants, especially young infants, present with uneplained irritability and/or lethargy, with or without grunting respirations, and with vomiting without diarrhea. Unusual thoroughness in history taking and physical examination is a must. This includes asking if fussiness or irritability is or was worse with movement, on being picked up, or when held by the chest.

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The physical examination should include a meticulous surface assessment searching for faint bruises or petechiae including a Wood’s lamp examination (see the section Bruises, Welts, and Scars); careful palpation of ribs and extremities for tenderness (with particular attention to posterior ribs and long bone metaphyses); and dilated retinoscopy, all of which can be revealing. When a history of pain on motion or bony tenderness is found or when subtle surface injuries are noted, a skeletal survey is indicated, perhaps followed by a bone scan (see the sections on fractures, under Skeletal Injuries). The presence of metaphyseal and rib fractures and/or retinal hemorrhages mandates a head computed tomography (CT) scan (because of their association with subdural hematomas). Regardless of whether or not abuse is the source of crying and irritability, when presented with an infant with these complaints, physicians should not be quick to jump to the diagnosis of colic, constipation, or “normal fussiness.” Rather, they should institute a thorough search for a precise cause including inflicted trauma in the differential. Once the cause is found, appropriate measures should be taken and clear recommendations should be given to parents with irritable infants as to what they can do to relieve the baby’s symptoms, as this may save some from future abuse. Of note, there is a demonstrated increase in admissions for serious inflicted injury of infants around 6 to 8 weeks of age. This has been attributed to a normal increase in crying from birth to 2 to 8 weeks “unrelated to any underlying pathology.” The majority of this crying does not have an identifiable cause and is observed across cultures. Given the fact that many, if not most, young infants admitted with serious inflicted trauma Table 6-3

have evidence of prior painful injuries, often of differing ages, it is likely that the true cause of their crying went undetected. This could be because no prior care was sought or because when sought, signs of tenderness had abated, symptoms were nonspecific, or the exact cause was not assiduously sought and was therefore missed. The disturbing incidence of severe and fatal cases of physical abuse has led to an effort to detect identifiable risk factors that might be predictive of fatal outcome. The majority of perpetrators of such abuse who have been studied were abused themselves as children. Poverty, unemployment, a long history of family violence, drug and alcohol abuse, and adolescent parenthood were common threads. Fathers and paramours are by far the most common perpetrators, responsible for up to 58% of the cases of severe and fatal beatings, followed by babysitters in up to 21% and mothers in up to 13%. Crying and toilet training accidents were the most common triggering events. Victims frequently had histories or evidence of prior suspicious injuries, often of a series of injuries of increasing severity, before the final beating. Mothers are more likely to be the perpetrators of death by suffocation and neglect. The diagnosis of inflicted injury is established on the basis of a constellation of factors including historical, physical, and behavioral observations. Approaching the case with an open mind, obtaining a thorough present and past medical and psychosocial history, and meticulous physical examination are crucial to ensuring accurate diagnosis of inflicted trauma as well as in preventing overdiagnosis of abuse. Important elements are detailed in Tables 6-3 and 6-4. Radiographs and

History Guidelines for Suspected Physical Abuse

General Guidelines

History of Present Illness

Past Medical History

Psychosocial History

Start with open-ended questions Follow up with specific clarifying questions If two parent figures are present, try to take history from each separately and out of child’s presence Child should be interviewed alone, if age and condition permit (questions should be nonleading and age appropriate) When possible, quote questions and answers verbatim

• What brings you to see us today?

Pregnancy—planned/ unplanned, wanted/ unwanted Emotional stresses during pregnancy Gravidity, parity, spontaneous/induced abortions Prenatal/perinatal/ neonatal course/ complications Prior child losses Well-child care—primary care provider(s), visits attended Immunization status If not up to date on visits/ immunizations, why? Growth and development Major medical problems Hospitalizations (where) Surgery (where) Injuries (where treated) Ingestions

Family: Living situation—housing, who lives in household Handling of major developmental hurdles (weaning, toilet training) Methods of discipline Caretakers when parents are not home Support systems Family stresses Parent/parent figures:

• Onset, course, specific symptoms, pertinent positives and negatives • Who has been with the child during this time frame? • If irritability reported: Does it increase with movement or during diaper changes? • Have bruises or other skin marks been noted? • If injury reported: What happened? When did it occur? Where did it occur? In what circumstances and position was the child found? Was the incident witnessed and if so by whom? What kind of forces were involved? If a fall, what precipitated it, from what height onto what surface, position on landing? If child ambulating, at what speed and what led to fall? ____________________________ MEDICAL REVIEW OF SYSTEMS

EtOH, ethyl alcohol; PTSD, posttraumatic stress disorder.

Duration and quality of relationship History of their families of origin: Parental relationship(s) Quality of interaction/ nurturing of parent as child Methods of discipline Levels of education/ employment History of drug or alcohol abuse History of psychiatric illness History of prior CPS involvement History of childhood physical or sexual abuse History of involvement with law enforcement, incarceration History of domestic violence

Behavioral Review of Systems Nightmares/sleep difficulties Increased aggression Anxiety Depression Low self-esteem Withdrawal from social interaction Regression Increased activity/anxiety PTSD symptoms Phobias Change in appetite Self-abuse Decrease in academic performance/school failure Running away Drug/EtOH use Fire setting Animal abuse Involvement with the law

6  |  Child Abuse and Neglect



Table 6-4

Physical Examination for Suspected Physical Abuse

Vital signs General appearance, demeanor Nutritional status and growth parameters Complete body surface examination Palpation of each bone Full general examination including the following: Head and scalp, including head circumference in infants Ears, nose, mouth (all mucosal surfaces), throat and dentition Cardiopulmonary examination Palpation of abdomen and serial re-examinations to assess for evolving signs of intraabdominal injury Palpation of regional nodes Genitalia including inspection of urethral, vaginal, and anal orifices Neurologic examination Ophthalmologic examination including conjunctivae, sclerae, pupils, anterior chamber, and dilated retinoscopy Developmental assessment

laboratory studies (complete blood count [CBC] and differential, liver function tests [LFTs], amylase, lipase, prothrombin time/partial thromboplastin time [PT/PTT], coagulation profile) are useful, not only in identifying and confirming injuries, but also in detecting evidence of occult trauma and ruling out other differential diagnostic possibilities.

Common Historical Red Flags In many instances one or more of the following historical red flags may provide the first clue to abuse: 1. Despite no history of injury, injury is found. 2. The history is incompatible with the type or degree of injury. For example, the distribution of lesions or type of injury does not fit the mechanism reported; the history is consistent with a minor injury (shortfall, rolled off couch), but evidence of major trauma is found; or multiple injuries of differing ages are found for which no prior care has been sought or adequate explanation provided. 3. The history of the way in which the injury occurred is vague, or incomplete. 4. The history changes each time it is told to a different health care worker, or even to the same worker who comes back with clarifying questions. 5. The parents, when interviewed separately, give contradictory histories. 6. The history is not credible. The child may be said to have done something developmentally impossible (e.g., having climbed and fallen when he or she cannot even sit, or a younger sibling caused it). 7. No history is reported of changes in behavior in an infant or child who has older injuries of differing ages that would have caused significant pain.

Miscellaneous Historical Red Flags 1. A history or evidence of repeated visits necessitated by “accidents” or injuries (often to a number of different facilities).

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2. A history or evidence of repeated fractures or old scars suggestive of prior inflicted injury. 3. A history of repeated ingestions. 4. Poor compliance with well-child care: missed visits, immunization delay.

Behavioral/Interactional Red Flags 1. A significant delay between the time of injury and the time of presentation often exists. 2. The parent may not show the degree of concern appropriate to the severity of the child’s injury. 3. A pathologic parent–child interaction may be observed. A parent demonstrates unusually rough/angry/impulsive behavior toward the child (yells, yanks, hits). A parent displays inappropriate expectations of child (“sit still,” i.e., don’t explore; “watch your brother”). A parent is often clearly unaware of the child’s needs and insensitive to behavioral cues (crying with hunger, dirty diaper, wants to be held or comforted). Few victims of physical abuse are brought in with a chief complaint of abuse. Most present with a chief complaint of an accidental injury or of an unrelated (cold, rash) or somewhat peripheral (lethargy, irritability) chief complaint. Whenever the physician’s suspicion is aroused by historical or observational findings, he or she (or a designated social worker) should obtain a detailed psychosocial history, seeking more information concerning the family’s current living situation, stresses, and emotional support systems. Particular attention should be paid to recent family crises including personal (ill health, job loss, separation) and environmental (pending eviction, heat or utilities discontinued) crises; degree of isolation (no family or social supports, no phone); and prior problems with family violence, mental health, alcohol, or drugs. Answers to questions about methods of discipline and parental reactions to common triggering events such as prolonged crying, toilet training accidents, and stubborn behavior can be most illuminating, as can answers to questions about how they felt when they learned of the baby’s pregnancy, when they first saw the baby, and what the baby is like (see Table 6-3). Although a detailed history takes time, it can be invaluable in facilitating accurate diagnosis, individualizing care, arranging appropriate family supports, and assisting CPS and law enforcement in their investigations. This and the medical history should be obtained in a supportive, nonjudgmental manner because aggressive interrogation will only serve to alienate the parent, limiting the value of the data obtained. During the evaluation one should bear in mind that the person who has brought the child in for care may not be the abuser, and that many parents of abused children truly want help, whether they have been directly abusive or unable to protect their child from abuse. In many cases a parent may have been unaware that abuse was occurring, had suspicions but no confirmation, suspected on some level but did not want to believe that abuse could be occurring, or was too fearful of an abusive mate to come in earlier. In some cases an abusive parent accompanies the child and the nonabusive parent in an effort to keep up a good front and to prevent disclosure. In occasional instances the nonabusive parent may actually be supportive of the abuser’s “harsh discipline.” Table 6-5 presents additional historical and behavioral clues that may become apparent in the course of interviewing the parents/caretakers of an abused child.

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Table 6-5

Historical and Behavioral Clues from Caretakers’ Demeanor during Interview

Lack of affect in describing the baby (does not glow, even when asked about when he or she first saw the baby after delivery) Relative lack of concern regarding severity/extent of injury Negative comments regarding the child’s (especially an infant’s) behavior, appearance, or personality: “She has a bad temper.” “She’s mean.” “He’s fussy, cries all the time.” “She’s greedy, eats like a pig, is never satisfied.” “He likes to irritate me.” Betrayal of unrealistic expectations: “She should know better than to cry when I have a headache.” Openly more invested in spouse/significant other.

Note: Perpetrators often disclose a watered-down version of what they did when abusing the child when asked what they think might have happened to cause the injuries found.

In approaching abused children, one must recognize that their parents are the only ones they know; that they love them and, usually, their other caretakers; and that at times, they may even feel in some way deserving of abuse. Young children rarely acknowledge that a parent or other caretaker has injured them, especially when questioned directly, often because they have been threatened or sworn to secrecy. If they can be interviewed alone (when old enough to give a history) in pleasant, nonthreatening surroundings, helpful historical information can often be obtained by means of nonleading questions and through drawings or play. In some cases in which the perpetrator is a paramour of the mother, and has not been around long, the child may be more willing to disclose, especially when he or she can honestly be reassured that they will have no further contact with him and is, therefore, safe from further assault. It is also important to remember that siblings, especially older siblings, can often provide useful historical information. Strong consideration should be given to interviewing them as soon as possible after abuse is identified. Their histories can be quite helpful, and they may prove to be good witnesses in subsequent hearings.

PHYSICAL FINDINGS AND PATTERNS OF INJURY Surface Marks The most obvious manifestations of physical abuse are those visible on the surface of the skin. They include bruises, welts, scars, abrasions, lacerations, tourniquet and bite marks, and burns. Despite differing opinions on the appropriateness or inappropriateness of physical methods of discipline, there is a good rule of thumb in distinguishing the boundary between discipline and abuse: Discipline does not inflict significant pain and does not cause physical injury or leave marks. All external signs of trauma found should be carefully documented in writing, on body diagrams, and in photographs (preferably with a ruler and color wheel in the frame). Bruises, Welts, and Scars Bruises are the most common clinical finding in cases of physical abuse, seen in up to 75% of victims, and their presence should prompt a search for other, deeper injuries. Inflicted bruises and welts may be the result of direct blows or of impacts with firm objects when pushed, shoved, thrown, or

swung into them. They frequently involve more than one plane of an extremity, the torso, and/or head, and are often found in places that are unusual sites for accidental injury (see the section Differential Diagnosis of Inflicted Injuries versus Findings Caused by Accident or Illness, later). These include the back, buttocks, upper arms, thighs, abdomen, perineum, and feet, all of which are typically covered by clothing and, thereby, hidden from public view (Figs. 6-1 and 6-2). When due to slaps or blows, these locations suggest some forethought in site selection. Among other unusual sites are the face (including the periorbital area and eyelids, cheeks, sides of the forehead, lateral aspects of the chin and mouth), ears, neck, hands, calves, and volar or ulnar (defensive posture) aspects of the forearms. Being more exposed, bruises in these areas may reflect greater impulsivity on the part of the perpetrator. Bruises involving the head, face, mouth, neck, and ears (Fig. 6-3) are seen in a substantial percentage of physical abuse victims: approximately 50% of infants and 38% of toddlers. Subgaleal hematomas and contusions and petechiae involving the scalp may be the result of direct blows or impacts against hard surfaces. On occasion they are caused by forceful hair pulling (Fig. 6-4). Slaps of moderate force may produce diffuse bruising with petechiae (Fig. 6-5). More forceful slaps leave handprint marks, consisting of petechial outlines of the fingers of the perpetrator as maximal capillary distortion occurs at the margins of the fingers on impact (Fig. 6-6). Periorbital and eyelid bruises in the absence of evidence of an overlying forehead hematoma or abrasion, or of an accidentally incurred frontal skull fracture, are likely to be inflicted and caused by direct blows to the face (Fig. 6-7, A and B). Surface injuries involving more than one plane of the head or face are highly suspicious for abuse. It is also important to recognize that contusions of the head, face, and ears are often associated with underlying intracranial injury, especially in infants. Such injuries are indicative of severe loss of control and intent to harm on the part of the perpetrating caregiver and have serious implications for the child’s future safety unless he or she is removed from contact with the offender. Round impressions of the thumb and forefinger may be seen on the cheeks, sides of the forehead, or sides of the chin in infants and young children who have been grasped and forcefully squeezed (see Fig. 6-1, B). Similar fingerprint bruises may be noted on the upper arms, trunk, abdomen, or extremities where the infant has been grasped and held tightly while being shaken or forcibly restrained (see Fig. 6-13). More elongated grab marks may also be found on the extremities (Fig. 6-8). When round bruises similar to fingerprint marks are found in a linear pattern, they may be fingertip impressions or knuckle marks from punching (see Fig. 6-2, B and C). In the latter instance, one may note partial central clearing of the rounded contusions. Fingerprints or grab marks located on the thighs, especially the medial surfaces, should prompt careful examination for signs of concurrent sexual abuse. Pinching produces apposed fingerprint marks with a shape that may be reminiscent of a butterfly or figure-of-eight. These may be seen singly or in rows, usually on clothing-covered areas (Fig. 6-9). Attempted smothering, choking, or severe and prolonged thoracic compression may produce showers of petechiae over the shoulders, neck, and face (Fig. 6-10, A-D). The oral and conjunctival mucosa may be involved as well and should be carefully inspected. If a hand or other object is held forcefully over the nose and mouth of a child with erupted teeth, imprint bruises, abrasions, or lacerations left by the teeth on the labial mucosa may be noted in addition to facial petechiae (see Fig. 6-10, E). When strangulation is the mechanism, neck bruises are usually visible (see Fig. 6-10, B). These petechiae may

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A

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B

E

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Figure 6-1  Inflicted bruises found in unusual locations. A, Multiple ecchymoses are evident over the back and upper chest of this child who presented in a poorly nourished condition. B, The same patient with multiple bruises involving differing planes of the face and forehead. Note the fingerprint bruise on the cheek. C and D, This child had severe contusions over the hands and feet, which were inflicted with a ruler. E, He also had a markedly swollen and contused ear and patches of hair loss where the perpetrator had pulled out hanks of hair. Both boys had been removed from abusive mothers and placed with maternal grandmothers who had physically abused their daughters in the past.

A

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D

Figure 6-2  This toddler, the victim of repetitive beatings by her mother’s boyfriend while the mother was hospitalized, had A, postauricular bruising, B, a line of fingerprint or knuckle bruises over the posterior left shoulder, and C, extensive bruising over the lower back in a pattern suggestive of knuckle marks, along with a large contusion over the right iliac crest. D, Rounded bruises over the lower abdomen and mons pubis may represent grab or punch marks. Some of her injuries were due to impacts against stairs and furniture when thrown forcefully by the perpetrator. Other injuries included a healing left radius fracture, refracture through a healing distal clavicle fracture, and evidence of old CNS trauma (see Fig. 6-26; Fig. 6-39, B; and Fig. 6-55).

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range from florid to faint and may be especially subtle when there has been a delay in seeking care. They can be mistaken for a rash if the examiner fails to check for blanching. Failure to detect such lesions has resulted in a number of subsequent deaths. Bruises are often seen over the curvature of the buttocks and across the lower back after severe spankings, whether with a hand or an object such as a paddle, belt, or hairbrush (Fig. 6-11). When linear marks from fingers, belt, or brush edges are seen, these tend to be horizontally or diagonally oriented (see Fig. 6-11, B). However, in some cases a linear pattern of petechiae may be noted on either side of the gluteal crease (see Fig. 6-11, C). Despite their vertical orientation, these are also the result of forceful horizontal blows across tightly tensed glutei, as when the blows are delivered, the involved sites are closely apposed along the crease and thus are subject to maximal capillary distortion on impact.

Figure 6-3  Ear bruising. This infant was hit so forcibly on the side of his head that he has an impression bruise on his scalp in the shape of his external ear. The linear bruise over the top rim of his ear is the result of capillary distortion caused by compression between the impacting hand and the child’s skull.

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Figure 6-4  Subgaleal hematomas. This toddler, in the care of mother’s paramour, was reportedly well until about 45 minutes after being put to bed, when she “woke up screaming.” On being picked up, she was noted to have a “mushy head.” At the hospital, she was found to have large bilateral subgaleal hematomas, with surface bruising and petechiae over the occipitoparietal scalp. She also had semicircular bruises behind her left ear consistent with fingernail marks. Skull radiographs and a head CT scan showed no evidence of skull fracture or intracranial injury. Further examination revealed extensive bruising and lacerations of the introitus consistent with sexual assault (see Fig. 6-92 B). The perpetrator apparently grabbed her by her hair and by her head, leaving fingernail marks while in the process of assaulting her. Her hair was pulled so forcibly that the scalp was pulled away from the skull, leading to the extensive subgaleal bleeding, which continued to expand over the ensuing 72 hours. A, Thinning of the hair from hair loss and bruising of the scalp are evident, and the subgaleal hematoma over her left temporal area is so large that it is pushing her external ear out laterally. B, Curvilinear marks behind her left ear are fingernail impressions.

A

B

Figure 6-5  Facial slap marks. A, Diffuse facial bruising and petechiae seen over the side of the face and head of this 3-week-old infant were the result of repeated slaps by his father, a paranoid schizophrenic who had stopped taking his medication. He acknowledged slapping his son to make him cry, after which he would give him his bottle, the purpose being to teach him to cry when hungry. The baby also had metaphyseal chip fractures due to forced hyperextension of the knees to the point of screaming because “his muscles were tight” and “needed to be loosened up.” B, This older infant has even more extensive petechiae and bruises that were tender on palpation.

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A

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B Figure 6-6  Handprints. A and B, These children were slapped so forcefully that the outlines of their abuser’s fingers are clearly evident.

Bruises involving the abdominal wall below the rib cage and above or anterior to the pelvic girdle are rarely seen with accidental injury and are relatively unusual in cases of abuse (see Fig. 6-2, D and Fig. 6-13). This is because of the great flexibility of the abdominal wall and its padding with adipose tissue. In fact, many children with inflicted intraabdominal injuries have little or no cutaneous evidence of trauma over the abdomen, although in some cases their absence may be due to delayed presentation. When abdominal bruises are present, they are indicative of forceful grabbing or pinching or of forceful blunt impact (such as a punch or kick). In these cases, abuse should be strongly suspected and evidence of internal injury should be sought (see the section Abdominal and Intrathoracic Injuries, later; and Fig. 6-57). In many instances the surface marks are recognizable imprints of the edge of a weapon used to inflict the injury, because the edge causes maximal capillary deformation on impact. Those most commonly seen are looped-cord marks, caused by whipping the child with a looped electrical cord (Fig. 6-12, A and B), belt and belt-buckle marks (see Fig. 6-12, C, D, and F; see also Fig. 6-11, B), and switch marks (see Fig. 6-12, E and F); but almost any implement can be used including hairbrushes (see Fig. 6-11, B), shoes (see Fig. 6-12, G and H), kitchen utensils (see Fig. 6-12, I), and chains (see Fig. 6-12, J). The size, nature, and rate of healing of bruises depend on the amount of force applied; the firmness and shape of the impacting object or surface; and the duration of impact, as well as on the degree of skin thickness, its vascularity and depth, elasticity, and adipose padding of the underlying subcutaneous tissue. Hence the initial appearance of bruises and the time it takes for them to resolve vary widely. Superficial bruises appear almost immediately and resolve more quickly

Figure 6-7  A, Bilateral black eyes are seen in this 12-day-old baby. His father, who was well-to-do, well dressed, and sophisticated, reported that he had fallen on the stairs while holding the baby in a football hold and that in the fall, the baby hit the steps face first with father landing on top of him. Bruises involving multiple planes of the face, the absence of an associated forehead hematoma or frontal fracture, and the presence of an occipital fracture consistent with impact against a hard surface (not the father’s chest) belied this story. Nevertheless, abuse was not suspected, and the baby was sent home. He returned 6 weeks later in extremis with massive intracranial injury and died. On this occasion, the father said he had found the infant choking and gasping for breath and had picked him up and shaken him to revive him. B, This infant’s bilateral black eyes are the result of direct blows to the periorbital areas bilaterally.

than deeper contusions. The latter may not discolor the overlying skin for days and may take up to 2 weeks to resolve. Bruises of the face and perineum, where the skin is more loosely attached to underlying soft tissues and where blood vessels are less well supported, also appear early. Furthermore, the evolution of bruises in terms of color change is also variable. Although red, blue, and purple are more typical of fresh bruises, these colors can persist in some cases until resolution. Yellow, green, and brown are more characteristic of

Figure 6-8  Linear finger grab marks are seen on the outer aspect of this infant’s upper arm. A thumbprint bruise was present medially. (Courtesy Kent Hymel, MD, Inova Fairfax Hospital for Children, Falls Church, Va.)

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Figure 6-9  Pinch marks. A row of fading bruises secondary to pinching, used as a method of discipline by his mother, is seen on the lateral aspect of the thigh of this preschool-age boy. More than a year later, his sister nearly died of multiple stab wounds also inflicted by their psychotic and delusional mother (see Fig. 6-16).

older bruises but can be seen relatively early in superficial bruises. Hence it is difficult if not impossible to determine the ages of ecchymotic lesions and to be certain that bruises of differing colors are truly of different ages. However, if tenderness, swelling, and/or fresh overlying abrasions are present, one can be more confident that the lesions are new. Some additional considerations regarding inflicted bruises warrant mention. In many cases of abuse, surface bruises and petechiae are faint or even imperceptible to the naked eye. This may be because they are early in their evolution or it may be the result of fading due to delay in seeking care. In cases in which blows or impacts involving surface tissues also cause severe internal bleeding in the head, chest, or abdomen, bruises may be delayed in forming, may never appear, or may be subtle in their appearance. This stems from the intense cutaneous vasoconstriction that occurs in response to shock, which severely restricts the flow of red blood cells to injured

A

B

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E

Figure 6-10  A-D, Petechial lesions secondary to choking. A, Numerous petechiae are seen over this boy’s face. B, Linear marks noted on the side of his neck correspond with the hand and finger placement demonstrated in C and D. The boy was choked to a point of near-unconsciousness by his mother’s boyfriend for tracking grass onto a freshly vacuumed carpet. E, Central facial petechiae were present bilaterally in this infant. The perpetrator confessed to holding his hand over her mouth and nose and squeezing her cheeks with thumb and forefinger to stop her crying. (Courtesy Kent Hymel, MD, Inova Fairfax Hospital for Children, Falls Church, Va.)

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B

Figure 6-11  Buttock bruises. A, At first glance, this toddler appeared to have a diaper rash, but on closer inspection the lesions were found to be petechiae produced by a severe spanking. B, The severe contusions of the buttocks and lower back seen in this child were inflicted by hand, hairbrush, and belt. C, A linear pattern of petechial hemorrhages is seen on either side of the gluteal cleft in this boy who was subjected to repeated rapid-fire blows across the gluteal crease.

surface capillaries, thus minimizing their extravasation. Appreciation of the potential subtlety of bruises and petechial lesions (which may provide the only clinical clue that abuse has occurred and that other injuries may be present) can enhance recognition of the importance of taking special care in performing the surface examination and checking the oral mucosa. It is also important to remember that petechiae may be mistaken for a fine macular rash if the clinician does not check to see if the lesions blanch or not. Research has demonstrated that Wood’s lamp examination may increase the visibility of faint or subtle bruises and can reveal bruising that is invisible under regular light (Fig. 6-13). When bruising is severe, deep, and extensive, underlying muscle breakdown may occur, resulting in myoglobinuria (Fig. 6-14). When severe, this may precipitate renal failure unless the risk is recognized, appropriate tests performed, and aggressive treatment measures are instituted. Although bruises are relatively easy to see in victims with fair skin, they can be difficult to appreciate in children with darkly pigmented skin unless extra care is taken. Bruises may be further obscured when such children have dry skin with a fine surface scale, sometimes termed “ashy skin.” Application of baby oil or a moisturizing cream clears the “ashy” surface, making lesions more readily visible. Small scalp lesions in children with thick dark hair can easily elude detection unless the scalp is inspected inch by inch for evidence of contusions, abrasions, and sometimes hair loss. Last, all infants with bruises and all children between 1 and 2 to 3 years of age with multiple bruises suspicious for abuse should have a skeletal survey to search for clinically occult fractures and blood work to screen for occult intraabdominal injury. Clearly documenting the size, color, and configuration of bruises is important in potential abuse cases. This is best done with photographs that have a ruler and a standard color wheel in the frame, thereby ensuring that the lesion’s true dimensions and color can be determined even if there are problems with exposure or photographic technique. Despite the difficulties in determining the ages of bruises, finding old scars that reflect prior use of a weapon in a child with acute injuries can be helpful in identifying abuse or confirming prior abuse (see Fig. 6-12, B). To avoid errors in diagnosis, children who present with multiple bruises in unusual locations that do not reflect use of a weapon should be thoroughly examined to check for evidence of an underlying coagulopathy, and screening

C

coagulation studies should be performed before arriving at a final diagnosis. Abrasions and Superficial Lacerations Abrasions are also seen in abuse victims, although less commonly than bruises. In some cases outline bruises of forcefully applied weapons have an overlying abraded or even lacerated surface (see Fig. 6-14). Abrasions also may result from friction on impact with a hard surface or from being dragged across a carpet or other rough surface (Fig. 6-15, A). Fingernails can be dug into the skin on grabbing the child or holding him or her down, or they can be used to poke at the skin, leaving small straight or arc-shaped abrasions or superficial lacerations (Fig. 6-15, B; and see Fig. 6-4, B). They can also be raked across the skin, leaving parallel linear abrasions. Simple lacerations, especially of the scalp, face, and upper extremities, although usually accidental in origin, can be the result of inflicted blows or impacts. Child abuse experts suspect that in many such cases a plausible history is provided, and the injury is classed as accidental. Here again, the practice of performing a complete surface examination on all children with minor wounds can provide clues that abuse may be the actual cause. Slashing knife wounds and deep stab-induced lacerations are fortunately rare and are usually inflicted by caretakers with severe mental disorders (Fig. 6-16). Strangulation, Restraint, and Tourniquet Injuries Strangulation and restraint marks result from attempts to hang; choke; or, in some instances, tie the child to a crib, bed, or chair. Abraded or blistered circumferential ligature marks, often reflecting the surface pattern of the type of restraint used, are seen in these cases, due to friction either in forceful tightening or in the child’s struggle to get free (Fig. 6-17). When extremities are involved, distal edema and often early signs of skin breakdown are seen (see Fig. 6-17, B). On rare occasions involving tight and prolonged tourniquet application, severe ischemia results in gangrene (see Fig. 6-17, C). In these unusual cases the perpetrator is likely to be psychotic, a drug addict, or both. Bite Marks Bite marks can be another manifestation of physical abuse. Lesions tend to be oval or semicircular. The impressions of the incisal surfaces may be variably clear, depending on the force applied and the age of the bite. Suction petechiae

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I

Figure 6-12  Imprint marks reflecting the weapons used to inflict them. A, Fresh looped-cord marks and B, hypopigmented and hyperpigmented scars that were the result of beatings with a looped electrical cord. C, The characteristic pattern of parallel lines that results from blows with a belt. D, This contusion in the configuration of a closed horseshoe with a central linear abrasion was inflicted with a belt buckle. E, The red linear contusions on this child’s thigh were the result of repeated blows with a switch. F, These acute linear contusions over the back and buttocks were inflicted with a belt and a switch. G, This boy was hit with a slipper with such force that imprints of the heel are evident. H, The heel prints of a running shoe left on this boy’s arm and thigh were distinct enough to enable identification of his abuser. I, This girl was hit forcefully with a spatula because she was acting out while her mother was trying to prepare dinner. J, This boy was struck with a chain, leaving a clear imprint of the links.

may be noted centrally in some fresh lesions. In children in whom the resulting imprint is distinct, it is as identifiable as a fingerprint, and its size enables the examiner to clearly distinguish between the bite of another child and that of an adult, the latter being greater than 3 cm in diameter (Fig. 6-18, A-C). Each bite mark should be carefully photographed in its

J

entirety, and then photos should be taken perpendicular to the plane of the imprint of each arch, with a ruler or measuring tape in each photo. Such evidence can enable a forensic dentist to make a model of the perpetrator’s dentition, which can specifically reveal his or her identity. Ultraviolet photography can disclose a clear image of bite marks weeks or

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Figure 6-13  Wood lamp enhancement of visualization of bruises. A, Medics were called to the home of this 2-month-old baby with a report of apnea. Examination and computed tomography revealed bilateral retinal hemorrhages, subdural hematoma with edema, and loss of gray/white matter differentiation. The only external signs of trauma were three fingerprint-like bruises, two on the back and one on the lower abdomen seen here. B, Viewed from the opposite side under a Wood lamp, the lower abdominal bruise is seen to be even larger in extent, and a suprapubic bruise that was invisible in regular light is revealed. C, This 5-month-old baby presented with a history of decreased responsiveness following a crying/choking spell, after which she vomited. Subtle surface bruises were missed, and she was discharged with a diagnosis of gastroesophageal reflux. She returned a few hours later with persistent vomiting and increasing lethargy. At the second visit, multiple faint bruises were noticed over the chest, abdomen, back, buttocks, thighs, and scalp. Bruises over the chest and abdomen are barely visible in regular light. D, Under a Wood lamp they are seen with much greater clarity. Other injuries included an occipital fracture with diastasis of the lambdoid suture, a posterior interhemispheric subdural hematoma (see Fig. 6-44), and a metaphyseal fracture of the distal radius seen in Fig. 6-28B. (Courtesy Eva Vogeley, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

months after all surface marks have disappeared (see Fig. 6-18, D). This has proved highly useful in identifying abusers of children who have a past history of being bitten but who have no acute lesions. Last, if the patient has not bathed or washed the bite wound since it was inflicted, swabbing the area with a saline-soaked, cotton-tipped applicator is indicated to obtain a sample of the perpetrator’s saliva. Crime laboratory

Figure 6-14  Severe bruising with underlying muscle damage. This toddler was covered from head to toe with severe looped cord contusions and lacerations. He had secondary myoglobinuria necessitating intensive care management to prevent renal failure.

analysis of perpetrator.

this

material

can

positively

identify

the

Burns Burns are generally accidental, but they are also a fairly common mode of abusive injury. Although there is no one pattern that is absolutely pathognomonic for abuse, dip burns, back and buttock burns in infants and toddlers, burns over the dorsum of the hand, and deep contact burns with a clear imprint of the hot surface are highly suspect. Here, too, inconsistency of history, the pattern of injury, and delay in seeking medical attention are valuable clues. Immersion scalds or dip burns are among the most common forms of inflicted burns. Typical patterns include symmetrical burns of both hands or both feet in a stocking-glove distribution, with a sharp line of demarcation at the level of the water line (Fig. 6-19, A); circumferential burns of the feet and lower legs along with burns of the perineum and flexor surfaces of the thighs are seen in children who are held under the axillae and knees and have their legs and bottoms dipped in scalding water (see Fig. 6-19, B and C). If the child is forcibly held down in a sink or tub as it fills with scalding water, partial sparing of the palms, soles, and buttocks may be noted because these sites were pressed against the cooler sink or tub surface. Sparing of apposed skin surfaces in flexor creases may also be noted in these cases. Lower extremity/perineal burns and tub burns are typically inflicted after toileting accidents.

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A

B

Figure 6-15  Inflicted abrasions/lacerations. A, A pattern of parallel abrasions that overlie ribs and vertebral bodies is seen on the back of this infant who was dragged over a carpet. The lesions are at least one to a few days old, and surface scabs have separated from two areas. A displaced spiral fracture of the right humerus, with marked soft tissue swelling and pain on motion, was also detected. B, This 3-month-old had numerous small linear and arc-shaped abrasions and superficial lacerations over both legs, consistent with fingernail marks. She also had many other bruises of varying hues, an occipital skull fracture, a posterior interhemispheric subdural hematoma, multiple metaphyseal chip fractures, and an abscessed nasal septal hematoma (see Fig. 6-25).

Despite claims to the contrary, immersion burns are rarely accidental. Table 6-6 shows the time required to produce a full-thickness burn in adult skin at various water temperatures. Although the time may be slightly shorter for a child, normal children would, if they accidentally put a hand or foot into water higher than 120° F, withdraw it in a fraction of a second after the tips of their fingers or toes made contact with the water, leaving them with only superficial burns of the tips of their fingers or toes.

Table 6-6

Duration of Exposure Required to Produce Full-thickness Burn in Water at Various Temperatures

Water Temperature (° F) 120 130 140 150 158

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D

Duration of Exposure 10 min 30 s 5 s 2 s 1 s

Figure 6-16  Slashing and stab wounds. This 22-month-old toddler was viciously and repeatedly attacked by her psychotic mother wielding a carving knife. She was left to die outside in the snow and, on rescue, was severely hypothermic and in shock. A, A superficial laceration is seen over the left eyelid. B, A deeper stab wound over the right flank penetrated into the subcutaneous tissue. C, A 3-cm wrist laceration sutured in the operating room had partially severed the median nerve. D, Eviscerated bowel projected through this 13-cm mid-abdominal laceration, which did not need to be extended for exploration. A through-and-through stomach laceration and a tear of the colonic mesentery were the only internal injuries found. Her throat had also been slit. Her brother had been seen a year earlier (see Fig. 6-9).

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A B

C Figure 6-17  Strangulation, restraint, and tourniquet injuries. A, This circumferential cord burn was the result of an attempted strangulation. B, A deep, circumferential rope burn of the wrist with considerable edema and early skin breakdown of the hand is seen in this infant, who had been tied to the side rails of her crib. C, This toddler was brought in with severe skin, soft tissue, and muscle necrosis of his entire lower leg. His mother, a paranoid schizophrenic and heroin addict, reported finding a strap wrapped tightly around the leg below the knee on checking him in the morning. She did not know how it had gotten there and denied hearing his cries of pain, which surely lasted for hours.

B

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Figure 6-18  Bite marks. A, In this bite mark inflicted on a toddler by a much older child with mature dentition, the configuration of the upper central incisors is clearly seen (note the diastema, or wide spacing, between them). B, At first glance this fading bite mark could be mistaken for a bruise; however, on close inspection, the outline of the dental arch becomes evident. The size of the arch is clearly that of an adult or adolescent. C, A child-size bite inflicted on an adolescent baby sitter illustrates the difference in size of the dental arch between children and adults. D, Viewed under ultraviolet light, bite marks that are weeks to months old can still be identified, even though the skin overlying the site has returned to normal. (A, B, and C, Courtesy Michael N. Sobel, MD, Pittsburgh, Pa; D, courtesy Thomas J. David, MD, Atlanta, Ga.)

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B Figure 6-19  Inflicted scalds. A, After getting his hands into something he was not allowed to touch and making a mess, this child’s hands were held down in hot water, resulting in severe second-degree dip burns. Note the sharp line of demarcation just above the wrist joint and the uniform depth of the burn. B, This toddler was dipped in a tub of scalding water while being held under the arms and knees, as an object lesson after a toileting accident. C, Close-up of severe second-degree burns of the foot and lower leg of the same child. (Courtesy Thomas Layton, MD.)

Contact burns, sometimes termed branding injuries, show the imprint of the instruments used to inflict them and have a depth or degree of burn that is relatively even throughout. For example, one may see the imprint of a hot iron or of the grill of a space heater or radiator cover (Fig. 6-20, A-D). No child with normal sensation would remain in contact with these objects long enough to incur such a burn. Burns caused by holding a hot hair dryer next to the skin leave an imprint of the screen that covers the heating element (see Fig. 6-20, E), and those inflicted with a curling iron produce cigarshaped, deep partial- or full-thickness imprints (see Fig. 6-20, F). Most contact burns are found in unusual locations for accidental burns or over areas such as the extensor surfaces of the upper arms or legs, the back, chest, abdomen, or buttocks that are usually covered by clothing. Inflicted cigarette burns usually leave sharply circumscribed, full-thickness imprints approximately 7 to 8 mm in diameter (5 mm if a slim cigarette is used). These are surrounded by a deep, partial-thickness halo blister and then a rim of superficial erythema (Fig. 6-21, A). A thick, black eschar soon forms over the central, full-thickness burn. If this eschar is removed, one sees full-thickness skin loss. Subacutely, these lesions fill in with granulation tissue (see Fig. 6-21, B), and on completion of healing the child is left with a deep, punched-out scar (see Fig. 6-21, C). When a lit cigarette is held on the skin for only a fraction of a second, the

resulting partial-thickness burn heals to form a uniform macular scar (see Fig. 6-21, D). An unusual pattern of serrated first- and second-degree burns in parallel lines is made when the wheels of a butane lighter are heated and then pressed or run over the child’s skin (Fig. 6-22).

Oral and Nasal Injuries On occasion, child abuse results in oral bruises and lacerations. One of the most typical patterns is bruising of the mucosa of the upper lip or the maxillary gingiva associated with tearing of the frenulum (Fig. 6-23). This can be produced when the perpetrator holds a hand tightly over the child’s mouth to silence screaming and can be associated with facial petechiae (see Fig. 6-10, E). Attempts to force a bottle or pacifier into a crying infant’s mouth can also produce semicircular central gingival bruising or ulcerations. Force-feeding with a spoon may produce contusions or lacerations of the lips, floor of the mouth, and tongue. Gag marks at the corners of the mouth can be mistaken for cheilosis or for impetiginous or candidal lesions. On rare occasions, bizarre intraoral lacerations are found (Fig. 6-24). Their usual mode of presentation is a complaint of spitting or vomiting up blood. Even more rarely, oral injuries inflicted with fingers or utensils can result in penetration of the posterior pharynx.

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Figure 6-20  Contact burns or branding injuries. A, This child, who was acting out while his mother ironed, was punished when she held the tip of the iron against his cheek. B, A healing full-thickness burn in the shape of an iron was found when this boy’s shirt was removed prior to his being given vaccine injections. He had been sent home after his first day in kindergarten with instructions not to return until he was caught up on his immunizations. C, These linear full-thickness burns were incurred when this 6-week-old infant was forced to sit on the hot grill of a space heater. The history given was that she had crawled over to the space heater, knocked it over, and then sat on it. D, Another infant presented with a history of irritability and a rash. The “rash” has a honeycomb configuration that matched that of a radiator cover in her home. She also had multiple fractures. E, These facial burns are the result of being branded with the grill of a hair dryer. The boy had been acting out while he was supposed to be getting ready for school and his mother was drying her hair. F, The hot wand of a curling iron leaves a cigar-shaped, partial- to full-thickness burn.

Most of these cases involve infants who may present with subcutaneous emphysema or with fever, drooling, and respiratory distress caused by a secondary retropharyngeal abscess (see Chapter 23). In older children, punches; forceful slaps, especially with the back of a hand; or kicks can cause lip lacerations and contusions, frenulum and gingival tears (see Fig. 6-23), dental fractures, displacement injuries and avulsions, chin lacerations, and even mandibular fractures. These injuries can also stem from impact with hard surfaces when the child is violently pushed or thrown (see Chapter 20). Often these older victims present with a plausible history of accidental trauma and are not recognized as abuse victims. Sometimes the only clue that the injuries are abuse related is that the lesion is more severe than would be expected from the reported mechanism, the child is unusually reticent in providing the history, or the parent appears determined not to let the child talk. Nasal injuries may be due to direct blows or impacts. When mild, epistaxis may be the only manifestation. More severe injuries can result in fractures of the nasal bone or cartilage, septal deviation, and septal hematoma. The abused child with a septal hematoma is especially vulnerable to developing a septal abscess due to delay in presentation, and affected infants tend to present with external nasal swelling, fever, and

respiratory distress due to nasal obstruction (Fig. 6-25; and see Chapter 23).

Skeletal Injuries Skeletal injuries are second only to bruises in terms of frequency in abused infants and children. Most fractures involve infants younger than 1 year of age. Approximately 60% of inflicted fractures are seen in children younger than 18 months, and the vast majority occur before age 3 years. This contrasts sharply with the low incidence of accidental fractures in infants and toddlers. Often, fractures are clinically occult and in many, if not most, cases no history of trauma is provided. When a history of injury is given, it is often one of a minor mechanism (fall off a couch) that does not fit with radiographic findings. Furthermore, parents of abused children tend to minimize reports of pain, discomfort, and loss of function. The high frequency of inflicted fractures in the very young and their potential for clinical subtlety necessitate that examination of suspected abuse victims include careful palpation of all bones for tenderness, crepitus, or palpable callus, and that all children younger than 2 to 3 years of age undergo skeletal survey; after that age and up to age 5 years children should be evaluated on a case-by-case basis.

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Figure 6-21  Cigarette burns. A, This sharply circumscribed burn was inflicted through the child’s sock. The burn is perfectly circular with a blistered rim and a full-thickness punched-out center to which charred fabric adheres. The configuration did not fit the history that he had accidentally stepped on a cigarette. B, The eschar has separated from this older burn, revealing underlying granulation tissue. C, Punched-out scars of healed full-thickness cigarette burns. D, These uniform macular scars are the result of cigarette burns in which the coal is held against the skin for only a fraction of a second. (D, Courtesy Kent Hymel, MD, Inova Fairfax Hospital for Children, Falls Church, Va.)

D

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Figure 6-22  Cigarette lighter burns. A, Two pairs of lesions with the appearance of parallel serrated lines and a deep burn in the shape of a butterfly were found on examining this infant, who was brought to the emergency department for treatment of a rash. B, Astute deduction by a resident and social worker led to the discovery that heated cigarette lighter wheels had been used to inflict the burns. The full-thickness butterfly is the result of repeated application.

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Figure 6-23  Frenulum tear. This badly beaten boy incurred a torn frenulum when his abuser tried to muffle his cries by forcibly holding his hand over the child’s mouth. Note the facial bruises. (Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 6-24  Inflicted palatal lacerations. This infant’s soft palate was shredded by repeated stabs with a sharp object. He presented with a complaint of spitting up blood and no history of trauma.

Diagnosis of inflicted fractures can be especially challenging in infants because nondisplaced rib and spiral fractures, metaphyseal chip and buckle fractures, and periosteal stripping injuries have minimal swelling, even acutely, and heal with great rapidity, as is detailed later. Further, in infants a history of trauma is especially unlikely to be reported. Rather, the chief complaint may be of unexplained irritability or

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Figure 6-26  Medullary sclerosis seen in the left radius reflects the later stages of healing. The fracture line is no longer visible, and the bone has remodeled. This is the child whose surface injuries are shown in Fig. 6-2. She also had a refracture of an old clavicle fracture (see Fig. 6-39, B) and evidence of prior head trauma on MRI (see Fig. 6-55).

grunting respirations (due to rib pain) or the child may be brought in with a totally unrelated complaint such as a cold or a rash. Some present with a history of minor accidental injury (often when the infant has surface bruises), usually with a reported mechanism that does not fit the fracture pattern or severity. Furthermore, as healing is faster in the infant or young child (due to the thickness of the periosteum, which resists tearing, reducing risk of displacement, and due to its being richly invested with osteoblasts that facilitate healing), tenderness and pain on being picked up, or on motion, may abate within a few days. This is particularly true of rib and metaphyseal fractures, periosteal stripping injuries, and other nondisplaced fractures. When presentation occurs after tenderness has disappeared but before radiographically visible signs of healing have developed, the diagnosis is likely to be missed. In these cases, when other findings raise suspicion, it is wise to obtain a second skeletal survey in 10 to 14 days. Fortunately, delay in presentation in many cases is great enough that radiographic signs of healing are noted. These include medullary sclerosis (Fig. 6-26), callus formation (Fig. 6-27; and see Figs. 6-29 and 6-31), and the presence of subperiosteal new bone (Fig. 6-27; and see Fig. 6-32). It should be noted that symmetrical thin rims of subperiosteal new bone (>2 cm in width) can be a normal finding in the long bones of infants younger than 3 to 6 months of age. Because many fractures are often not brought to medical attention and are thus not immobilized, and given

B

Figure 6-25  Abscessed nasal septal hematoma. This 3-month-old baby brought to the emergency department with complaints of fever and difficulty breathing was found to have A, a red swollen nose and B, erythematous bulging of the nasal septum bilaterally, obstructing her nasal passages. Note the small central lip laceration. She also had multiple bruises, fingernail abrasions (see Fig. 6-15, B), an occipital skull fracture, a subdural hematoma, and multiple metaphyseal chip fractures.

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A paradigm of child abuse is the finding of multiple, unexplained, often symmetrical fractures of varying ages involving the ribs and/or long bones of an infant or young child who has otherwise normal bones (see Fig. 6-27). Many of these fractures are clinically inapparent and therefore unsuspected. Metaphyseal fractures in infants and toddlers and rib fractures are also findings highly specific for abuse.

A

B Figure 6-27  Multiple fractures of varying ages. This boy was seen with a chief complaint of refusing to bear weight. On examination, he was found to have marked swelling, tenderness, and crepitance over the distal left femur. A, Radiographic examination confirmed the presence of an acute transverse fracture and also revealed multiple additional fractures in various stages of healing. These include an old transverse fracture of the distal right femur with callus and subperiosteal new bone formation that is in the process of remodeling. Relatively new metaphyseal chip fractures are seen involving the right proximal tibia, and vigorous subperiosteal new bone formation encompasses the left tibia. B, On skeletal survey he was also found to have a healing fracture of the distal humerus with vigorous callus and subperiosteal new bone formation and considerable soft tissue swelling. Note that the cortices of his long bones are of normal thickness. No care had ever been sought for the older fractures. (Courtesy Department of Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

that abuse tends to be repetitive, reinjury at sites of prior injury is not uncommon. When this occurs, it can result in unusually “exuberant” callus formation (Fig. 6-27; and see Fig. 6-31). In evaluating skeletal injuries, one must bear in mind the child’s developmental capabilities because accidental skeletal fractures are rare in infants who are not crawling or cruising and are quite uncommon in children younger than 3 years. Likewise, being knowledgeable regarding the mechanisms of injury and the magnitude of the forces that result in different fracture patterns makes it less likely to be misled by deceptive histories.

Metaphyseal Fractures In infancy the cartilage of the chondro-osseous junctions adjacent to the metaphyses of long bones is poorly mineralized, making these structures the weakest points in long bones and predisposing to planar fractures through these sites when the bones are subjected to shearing forces. The periosteum overlying the epiphyseal cartilage is firmly adherent and extends close to the diaphysis to cover the subperiosteal bony collar. Thus when fractures do occur, their peripheral segments are thicker. In toddlers and older children, who have slower growth rates and a much greater amount of chondro-osseous mineralization, the same forces that produce metaphyseal fractures in infants are more likely to result in fractures through the physeal cartilage. Metaphyseal fractures can be produced by the application of torsional or tractional forces, delivered when an extremity is grabbed and yanked. Frequently, they are caused by rapid, repetitive acceleration and deceleration as the extremities flail back and forth in the process of violent shaking. They also result from forced hyperextension of the knees. Metaphyseal fractures can be found in any long bone but are most commonly seen in the distal femur, proximal and distal tibias, and proximal humerus. They are often bilateral. They may traverse the entire metaphysis or only a portion of it. Clinically, they are not associated with any significant soft-tissue swelling, and pain and tenderness (which can be quite localized) tend to abate within 2 to 5 days. Radiographic manifestations of metaphyseal fractures have led to the terms “metaphyseal chip” or “corner” fractures and “bucket handle” fractures. The first derives from the fact that in the anteroposterior (AP) view the central portion of the fracture is often invisible and only a chip of bone is seen on either the lateral or medial aspect of the metaphysis, or both (Fig. 6-28; and see Fig. 6-27). Chips may also be seen on lateral projections. In some cases a thin central metaphyseal lucency can be detected (see Fig. 6-28, B). Special oblique views are necessary to reveal the true extent of the fracture, as in this projection the separation of the metaphyseal disk becomes readily evident, resembling a bucket handle (see Fig. 6-28, D). Healing of metaphyseal fractures is not usually accompanied by prominent callus or extensive subperiosteal new bone formation. Reinjuries, however, can result in prominent fragmentation and sclerosis at the metaphyseal margins. Rib Fractures Rib fractures are also relatively unique to abused infants. Because of the plasticity and pliability of the thoracic cage in infancy, application of major forces is required to break ribs, and accidental rib fractures are rarely seen short of major motor vehicle accidents. Causative mechanisms include violent shaking while holding the child by the chest. This is done with the attacker’s palms to the sides, thumbs in front, and fingers over the back. In the process of shaking, the ribs are subjected to marked AP compression forces and the posterior ribs are levered against the fulcrum of the vertebral bodies and their transverse processes. This often produces rows of multiple, often bilateral (“mirror image”) posterior rib fractures, located near the costovertebral articulations (Fig. 6-29). Extreme squeezing of the chest with or without shaking can produce fractures at multiple sites along the rib arcs, as

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C Figure 6-28  Metaphyseal fractures. A, Metaphyseal chip fractures involving the medial aspects of the distal right femur and proximal tibia were found in this infant whose mother confessed to repeated episodes of shaking, after which she would throw the baby down onto a bed or couch. Note the subperiosteal new bone along the lateral aspect of the femur and medial margins of the tibia. The baby had presented with a large subgaleal hematoma and a history of having been hit on the head with a plastic nursing bottle by a toddler. Bilateral skull fractures (see Fig. 6-47), a distal right clavicle fracture (see Fig. 6-39, A), and a healing radius fracture were also found. B, In another child, metaphyseal chips are seen on either side of the radial metaphysis in the anteroposterior view, along with a faint central metaphyseal lucency. In the lateral projection, metaphyseal chips of both radius and ulna are evident. Subtle rims of subperiosteal new bone can be seen along the diaphyses of both bones. This is the same 5-month-old whose faint surface bruises are shown in Fig. 6-13, C and D. Her skull radiograph is presented in Fig. 6-44, B. C, A prominent diagonal metaphyseal fracture of the medial aspect of the proximal right tibia was found on a skeletal survey obtained of this 10-month-old infant, who presented with an unexplained supracondylar fracture (see Fig. 6-38). His proximal tibia was nontender clinically, yet no evidence of healing is seen, suggesting that the fracture is older than a few days and newer than 10 days old. Failure to detect this and rib and metacarpal fractures (see Fig. 6-40, A) on films obtained because of hand swelling and decreased movement of the right leg noted during an admission for gastroenteritis and dehydration (vomiting without diarrhea) had subjected him to this further trauma a month later (see Fig. 6-38). D, In the oblique projection the planar nature of metaphyseal fractures is more easily appreciated. Fracture lines traverse the entire metaphysis of each tibia, and the disk-shaped distal fragments appear offset, giving rise to the term “bucket handle fracture.” (D, Courtesy Bruce Rosenthal, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

can stomping on the chest. Direct blows with the edge of a hand or blunt instrument, kicks, and slamming or hurling resulting in chest wall impact against the edge of a table or door jamb produce fractures at the site of impact. Stomping and slamming usually produce fractures that are more severe and extensive, more likely to be displaced, and associated with intrathoracic and intraabdominal injuries (see Fig. 6-59). Most of these infants have no history of trauma and symptoms are nonspecific and include respiratory difficulty with shallow grunting respirations, and irritability especially with

movement, being picked up while held by the chest, and while being patted, burped, or rocked. Like metaphyseal fractures, rib fractures tend not to be associated with soft tissue swelling or bruising, and tenderness often resolves in 3 to 5 days, the exception being unusually severe and displaced fractures as shown in Figure 6-59. In some cases of repetitive injury with unusually florid callus, lumps can be palpated at healing fracture sites. When fractures involve the lower rib cage, associated abdominal injury should be considered.

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Figure 6-29  Rib fractures due to shaking. A, This 3-month-old infant has bilateral and nearly symmetrical posterior rib fractures with fairly mature callus involving the second through eighth ribs on the left and the third through sixth on the right. The latter are partially obscured by the mediastinal shadow and the right heart border. B, This 10-weekold, who presented with “shaking spells” and no history of trauma, has healing posterior rib fractures of the second through fifth ribs on the right and second through seventh on the left. Those of the right second and third and the left seventh appear newer than the others with less well-defined margins. He also has lateral rib fractures on the right involving the third and fourth and possibly seventh ribs. Additional fractures “appeared” during his hospital stay as healing proceeded. His CNS findings are shown in Figs. 6-51 and 6-52.

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Figure 6-30  Use of bone scan to detect occult rib fractures. A, At 3 months of age, this infant presented with low-grade fever, nasal congestion, cough, tachypnea, and intermittent grunting respirations. Pneumonia was suspected, and a chest radiograph was obtained. On review of the films, a subtle, nearly completely remodeled fracture of the posterolateral aspect of the right third rib was detected. In addition to his tachypnea, he was noted to cry when picked up by the chest. B, Bone scan revealed occult posterior fractures of the second through fifth ribs on the left and the eighth and ninth ribs bilaterally, as well as the one fracture seen on the chest film. The occult fractures became visible radiographically over the ensuing 2 weeks.

Radiographically, rib fractures tend to be invisible before the appearance of callus and/or subperiosteal new bone. This is because the periosteum is only partially disrupted, and it and the arc of the rib cage keep the fracture ends apposed. These breaks can, however, be detected by bone scan at this early stage. Hence this procedure should be strongly considered when there are no visible fractures but examination reveals thoracic bruises or tenderness; when one or a few rib fractures are seen and others are suspected, or when other injuries associated with shaking—metaphyseal chip fractures, retinal hemorrhages, CNS findings—are found in the absence of visible rib fractures. Bone scans often reveal multiple fractures not visible in standard radiographs (Fig. 6-30, B).

Alternatively, one can wait and obtain a repeat skeletal survey 10 days to 2 weeks later, if assured that the infant can be protected in the interim. These follow-up films can reveal fractures invisible on the first study. An early sign of healing, seen 5 to 10 days postinjury on standard radiographs, consists of a vertical lucency at the site of the fracture surrounded by soft callus with indistinct margins (Fig. 6-31, A). Subsequently (at 14 to 21 days), callus takes on a more nodular appearance with sharper margins and is then termed hard callus (see Fig. 6-30, A and Fig. 6-31, B). Reinjury can result in florid callus formation (see Fig. 6-31, B). Complete remodeling and radiographic disappearance occur within a few months in the absence of reinjury.

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B Figure 6-31  Healing rib fractures. A, This infant was seen because of a history of vomiting and irritability. An abdominal film obtained to rule out intestinal obstruction showed a normal bowel gas pattern but revealed posterior rib fractures in the early stages of healing. Note the vertical lucencies surrounded by soft callus. The fractures were missed. B, When the infant was finally tracked down 2 months later, her chest radiograph showed in excess of 20 healing rib fractures, some posterior and others lateral and anterolateral. The exuberance of the callus in many places reflects repetitive reinjury. Some of these were palpable clinically. (Courtesy Department of Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

The frequent association of rib and metaphyseal fractures with head injury in infants is so great (∼70%) that when these fractures are discovered, a CT scan of the head should be obtained, even when neurologic status appears normal. Not infrequently, this study will reveal evidence of prior intracranial injury that is subclinical or nonspecific in its manifestations at the time of presentation. Studies have documented the rarity of rib fractures associated with resuscitation; however, most of these studies predated the relatively new recommendation for two-handed resuscitation in infants. Long Bone Fractures The high incidence of long bone fractures in abused children has been attributed to the fact that the extremities serve as “convenient handles” for inflicting trauma. Formation of subperiosteal new bone is seen commonly in infants and toddlers with healing diaphyseal fractures (see Fig. 6-27, A and B and

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Fig. 6-32, A and B). In infancy, it can also be seen in the absence of cortical fractures when a long bone is subjected to twisting or torsional forces short of those required to produce cortical breaks. These result in separation of the periosteum from the outer cortex and subperiosteal hemorrhage. Termed periosteal stripping injuries, they are relatively specific to infants, for although the epiphyseal segment of the periosteum is firmly attached, the diaphyseal portion is more loosely adherent because of sparseness of the Sharpey fibers that anchor it. As the complement of Sharpey fibers increases in early childhood, periosteal separation becomes less and less likely. Because of the attendant subperiosteal hemorrhage, the formation of subperiosteal new bone after periosteal stripping tends to be prominent and greater than 2 mm in width. This, too, becomes visible on radiographs in about 5 to 10 days in infants (10 to 14 days in toddlers). Initially, it is seen as periosteal haziness, and subsequently increasing calcification becomes evident (Fig. 6-32). These findings are easy to miss unless the physician inspects diaphyseal margins with great care. Like metaphyseal fractures, periosteal stripping injuries are clinically subtle, even acutely, because they are not associated with any significant degree of soft tissue swelling, and associated tenderness may disappear in as little as 2 to 5 days. Although metaphyseal and periosteal stripping injuries are more common in young infants, diaphyseal or shaft fractures are not at all unusual and become even more common in older infants and toddlers who are victims of abuse. Although not specific for inflicted injury, diaphyseal fractures are highly suspect when found in infants who are not yet crawling or walking, especially when seen in the absence of a history of significant trauma; as noted, accidental fractures are also relatively uncommon in toddlers as compared with older children. Spiral, oblique, torus, transverse, and compression/distraction (or three-point bending) fractures may all be seen. An understanding of the direction and magnitude of force required to produce a given type of diaphyseal fracture and a comparison of that with the history given often enable the clinician to distinguish between accidental and inflicted injury. Spiral fractures of the long bones (Fig. 6-33), which, in cases of abuse, are usually the result of grabbing an extremity and rapidly twisting it, are relatively low-energy injuries in comparison with other fracture types and are not uncommonly seen as a result of accidents. However, when these injuries are caused by abuse, fracture edges are more likely to be widely separated, suggesting somewhat greater force application than is true of most accidental spiral fractures. Oblique fractures can also be the product of torsional forces or of slowly applied bending forces. They appear to require application of significantly greater energy than with spiral fractures, especially when the fracture is complete and displaced (Fig. 6-34). When a spiral or oblique fracture of a long bone is found in a nonambulatory infant or in a mobile young child with no history of an injury that fits the fracture, abuse should be suspected. Though more commonly accidental in origin, torus or buckle fractures can be the result of abuse, especially in very young children. When mild with only slight cortical buckling, they are the result of mild-to-moderate compression forces delivered in a direction parallel or nearly parallel to the axis of a long bone. When higher energy forces are delivered, whether accidental or inflicted, there is usually some degree of angulation; in such cases it may be more accurate to classify them as a form of compression/distraction injury. Milder fractures tend to have little associated soft tissue swelling and often only mild discomfort on motion. As degree of severity of angulation increases, so do swelling and pain. As is true of accidental fractures, they most commonly involve the distal

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B Figure 6-32  Periosteal stripping injuries. Wide strips of subperiosteal new bone were noted along the diaphyses of both humeri (A) and both femurs (B) of this infant. Their width was too great to be considered physiologic. She also had severe intracranial injury and multiple healing rib fractures. Dating of the periosteal stripping and rib fractures coincided with a 3- to 4-day period of nearly constant crying, “even when we picked her up,” that had occurred more than 2 weeks earlier and was attributed to constipation.

radius and ulna, but volar angulation is more common in inflicted fractures, and dorsal angulation is more typical of those incurred accidentally. The usual scenario is that of a child who is thrown or forcefully pushed and lands on a outstretched arm (Fig. 6-35; and see Chapter 21, Fig. 21-27 for the appearance of an accidental buckle fracture). Another involves grabbing by the wrist and bending it forcefully. More severe forms involving the femur or tibia can be caused by throwing or slamming a child feet first or onto the knees on a hard surface. Figure 6-34  This partially displaced oblique fracture of the left humerus has faint evidence of early callus formation. The persistence of soft tissue swelling may be due to lack of proper immobilization and/or reinjury. (Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 6-33  Spiral fracture. This 8-month-old presented with unexplained swelling of his right upper arm and decreased use of the extremity. He had no history of trauma. A spiral fracture courses from the distal portion to the upper third of the diaphysis. Moderate associated soft tissue swelling is also seen.

Figure 6-35  Torus or buckle fracture. This 5-year-old girl with mild cerebral palsy presented with a history of unresponsiveness lasting more than an hour, following a possible seizure, and was found to have a hyperacute subdural hematoma similar to the one shown in Fig. 6-48. Subsequent skeletal survey found a previously unrecognized and clinically silent torus fracture of the left distal radius. After an initial history reporting two falls on stairs, her mother’s live-in boyfriend, who was frustrated with her slowness at toilet training, confessed to having pushed her down forcibly and to slamming her into an entertainment cabinet. When buckle fractures are displaced to this extent, they are perhaps more accurately described as compression/distraction injuries.

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Figure 6-36  Transverse fractures. An acute transverse fracture of the proximal radius with associated soft tissue swelling is seen in this toddler who has another nondisplaced transverse fracture with early callus formation distally and a healing displaced transverse fracture of the mid-ulna with subperiosteal new bone formation.

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Transverse and three-point bending fractures are highenergy injuries that are much more likely to be accompanied by acute soft tissue swelling and deformity. Severe pain on motion with secondary splinting and limitation of motion are the rule. Transverse fractures are often the result of a rapidly delivered direct blow perpendicular to the long axis of a bone, such as “karate chop” or “night stick” injury (Fig. 6-36). They can also occur when a child is thrown or swung and, in the process, hits an extremity against a hard edge such as that of a table, as a result of falls of greater than 6 feet, and when half of an extremity is held with both hands and snapped. Violently yanking a child up from his crib while holding an extremity or grabbing an arm and yanking it upward or sideways when the child is fixed in position by the belt of a high chair or infant seat are common scenarios for compression/ distraction or three-point bending fractures (Fig. 6-37), as is the snapping mechanism described earlier. Inflicted

B

Figure 6-37  Compression/distraction (three-point bending) fracture. A, A comminuted and angulated fracture of the distal femur with irregular margins is seen in this child who was brought in for refusal to bear weight, after a “fall” down wooden steps. B, The degree of angulation is better appreciated in the lateral view. The nature of the fracture indicates a high-energy mechanism inconsistent with the history. The father later confessed to throwing the child at a coffee table, which broke on impact. C, A more typical example of a completely displaced three-point bending fracture is seen in another child.

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supracondylar humerus fractures of the compression/ distraction type are the result of grabbing an arm and yanking it into hyperextension (Fig. 6-38; and see Fig. 6-27, B). Other Fractures Fractures of the clavicle as a result of abuse are fairly unusual. Like accidental fractures, they can be located at the junction of the outer third with the middle two thirds. When they involve the very distal portion (Fig. 6-39), they are highly suspect for abuse and are often associated with chip fractures of the acromion process and fractures of the proximal humerus and the upper ribs. Direct impact when thrown or slammed down and forceful yanking or pulling of the arm upward are common mechanisms. Medial clavicular and sternal fractures are extremely rare and reflect massive impacting forces. The same is true for fractures of the first rib and scapular body. Fractures of the hands and feet are relatively uncommon but have a strong likelihood of being inflicted and tend to be clinically inapparent when first seen. Grabbing and yanking, twisting, or bending the hand or foot tend to produce metacarpal/metatarsal fractures, most commonly the second and third in the hand and the first in the foot. Subtle subperiosteal new bone formation and/or medullary sclerosis are common radiographic findings (Fig. 6-40, A). Repetitive knuckle raps with a ruler or other hard object produce radiographic changes that consist of widening and sclerosis of the distal metaphyses of the metacarpals. Forced hyperextension of the phalanges can cause buckle fractures at their bases (see Fig. 6-40, B).

Figure 6-38  Supracondylar fracture. An inflicted supracondylar humerus fracture caused by forced hyperextension is seen in a 9-month-old infant who was brought to his local emergency department for unexplained arm swelling. Note the diagonal linear lucency over the posterior aspect of the distal humerus and the prominent soft tissue swelling. Early signs of callus formation distal to the new fracture indicate that this is a repeat injury. He had been seen a month earlier with irritability, vomiting, hand swelling, and decreased movement of his right leg. Although chest, leg, and hand films were obtained at that time, his tibial and metacarpal fractures were missed (see Fig. 6-28, C and Figure 6-40, A).

A

B Figure 6-39  Inflicted distal clavicle fractures. A, Fracture of the distal right clavicle is seen in this infant victim of shaken impact syndrome. Lack of associated soft tissue swelling and absence of callus suggest the fracture is between 3 and 10 days old. Her metaphyseal fractures are shown in Fig. 6-28A, and her skull fractures in Fig. 6-47. B, A refracture through the callus of a healing distal right clavicle fracture is seen in the toddler whose surface injuries are shown in Fig. 6-2. She had been repeatedly thrown or shoved down stairs and into furniture.

Vertebral fractures are reported infrequently, although it is thought that many may be missed. In most cases, compression of a vertebral body is found. Cervical fractures are usually the result of violent hyperflexion or hyperextension (hangman’s fracture, or bilateral fractures through the pedicles of C2). More rarely, the child may be held by the head and the neck twisted or the head is used as a handle while the assailant violently swings or shakes the child, usually resulting in catastrophic cervical cord injury. Below the cervical spine, most fractures occur near the thoracolumbar junction. Axial loading (slamming the buttocks onto a hard surface) and violent hyperflexion are the major mechanisms reported. Forced hyperflexion can also result in multiple avulsion fractures of the spinous processes as they are torn from their ligamentous attachments. Diagnostic Imaging of Skeletal Injuries Radiographic examination of infants and children for reasons other than suspected fractures (e.g., chest and abdominal films) may provide the first clue to inflicted trauma if clinicians and radiologists follow the maxim of carefully looking at each structure on the film (see Fig. 6-30, A and Fig. 6-31, A). Too often, fractures are missed because complaints of respiratory distress or vomiting lead clinicians to focus exclusively on lungs and heart or the abdominal gas pattern. This results in missed diagnoses, especially when bony abnormalities are subtle, and return of the child to the family with major risk of even more severe subsequent injury. When evaluating an infant or child younger than 2 or 3 years of age who is found to have multiple bruises and/or fractures, fractures of differing ages, and fractures with high (metaphyseal, rib) or moderate (vertebral body, hand, foot, and complex skull fractures) specificity for abuse, it is essential to obtain a skeletal survey because of the greater probability of finding multiple clinically occult fractures. Surveys may also yield valuable additional information in selected cases of children 3 to 5 years of age, especially if they are developmentally delayed or have other evidence of severe abuse and/or neglect. After age 5 years, careful history and physical

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Figure 6-40  Hand fractures. A, A healing fracture of the left third metacarpal is seen in this 9-month-old infant who was brought to his local emergency department with a 2-day history of marked irritability, vomiting, and hand swelling. Subperiosteal new bone is evident along the shaft of his left middle metacarpal along with slight medullary sclerosis proximally. This, rib, and proximal tibial fractures (see Fig. 6-28, C) were missed until the films were reread when he returned a month later with an unexplained distal humerus fracture. B, Buckle fractures of the proximal phalanges due to forced hyperextension of the fingers are seen in this infant, who presented with redness and swelling of his hand and no history of trauma. He returned 6 weeks later in extremis with a hyperacute subdural hematoma (see Fig. 6-48).

A

examination should point to areas that warrant radiographic evaluation. We cannot emphasize enough the importance of optimal imaging techniques in the identification of inflicted skeletal trauma. High-detail skeletal surveys with two views of each bone and additional oblique views of the hands and feet maximize the potential for detection but must be specifically ordered because many surveys show only one view of each bone plus two views of the head. We also advocate four views (AP, Towne’s, left, and right) of the skull. These radiographs should be examined with meticulous care, comparing paired structures from left to right and comparing adjacent structures. This is most important in order to avoid missing subtle metaphyseal fractures and early collections of subperiosteal new bone. Given that some occult fractures may be invisible at the time of initial evaluation, consideration should be given to obtaining a bone scan or a repeat skeletal survey with oblique views of the ribs 2 weeks later when callus will be evident. Although bone scans are not ideal as a primary imaging modality in detecting inflicted fractures, they can serve as a good complementary adjunct to skeletal surveys, especially in infants who have multiple bruises (highly suspicious for abuse) but no visible fractures, rib or metaphyseal fractures, retinal hemorrhages, or obvious CNS findings consistent with shaking (see Fig. 6-30), when further evidence is needed to ensure the child’s protection. Scans are particularly helpful in detecting occult rib fractures and periosteal stripping injuries that are no longer tender on examination but have not yet formed radiographically visible callus or subperiosteal new bone (Fig. 6-41, A). There is some evidence that bone scans may be able to detect fractures that have already remodeled (see Fig. 6-41, B). They are not good at detecting metaphyseal injuries because the adjacent growth centers have high uptake. They are also poor at detecting skull fractures. Ultrasound, CT, or magnetic resonance imaging (MRI) examination may be useful when injuries of unossified growth centers or epi­ physeal separation injuries are suspected in toddlers or older children. Strong consideration should be given to obtaining a head CT scan, a complete blood cell count and differential with platelets, prothrombin and partial thromboplastin times, liver function tests, and amylase lipase when evaluating children, especially infants, with multiple fractures and those with injuries of moderate to high specificity for abuse because clinically inapparent CNS and intraabdominal injuries can be associated findings.

B

Last, we cannot give enough emphasis to the importance of considering fractures in the differential diagnosis of unexplained irritability or of grunting respirations in infants who have no pulmonary findings. Failure to identify the cause of irritability has the potential to subject previously abused babies to further, often more severe, trauma and to place infants from high-risk families who have not yet been abused at risk for future inflicted injury.

Central Nervous System Injuries The incidence of recognized head injury in child abuse victims ranges from 7% to 19% as reported in various large case studies. Up to 80% of victims are younger than 1 year of age, and the majority of the remaining 20% are toddlers. Numbers have risen over the past decade because more infants with subtle or subclinical intracranial injuries are imaged and abnormalities are detected because of greater recognition of associated surface and/or skeletal injuries. To put inflicted head trauma in infants in perspective, findings reported in the recent literature (Billmire) reveal that approximately 65% of all head injuries (excluding uncomplicated calvarial fractures) and 95% of all serious intracranial injuries in infants younger than 1 year of age are inflicted. Further, 60% to 80% of head injury deaths in children younger than 2 years are due to abuse. Head injuries are also the major source of morbidity and mortality due to abuse. From 20% to 25% of known victims of inflicted head trauma die, and they account for up to 80% of fatal abuse cases. Survivors are often left with sequelae, ranging from microcephaly with neurodevastation to mild cognitive deficits. In long-term follow-up studies of former victims of physical abuse (not selected for head injury), Martin found 5% were microcephalic; 31% were in less than the fifth percentile for height and/or weight; and 53% had abnormalities on neurologic examination, nearly one third of which were moderate to severe. Although only 30% of the previously abused children studied in follow-up by Elmer and Gregg had known CNS injury at the time of their initial identification, 57% had intelligence quotients (IQs) lower than 80, and 32%, known to have been abused before 13 months of age, had evidence of significant developmental delay. Given the fact that some head injuries go undetected because they are relatively mild and/or associated with nonspecific symptoms, and given that many victims of abuse are never recognized as such, it is probable that a fair percentage of infants and children with milder degrees of “idiopathic”

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Figure 6-41  Usefulness of bone scans in detecting both acute and chronic occult injuries. A, This 14-month-old was seen for low-grade fever and refusal to walk. Initial standard radiographs were normal. The scan, obtained because of suspicion of infection, revealed increased uptake throughout the entire left tibia. Workup for infection was negative. Repeat radiographs obtained 2 weeks later revealed a healing fracture and extensive subperiosteal new bone formation. B, This 21-month-old toddler reportedly collapsed at home after falling from her crib. She had a right frontal hematoma, multiple abrasions, and a cigarette burn scar. On head CT, subdural blood and cerebral edema were found. An abdominal CT obtained because of elevated liver function tests revealed the bilateral adrenal hemorrhages shown in Fig. 6-58. This bone scan obtained after a negative skeletal survey shows increased tracer uptake in the left distal ulna, right proximal femur, and right clavicle and over the lateral aspects of the rib cage bilaterally. As callus over the distal right clavicle was the only positive finding on a repeat skeletal survey 2 weeks postinjury, it was postulated that the other areas of increased uptake represented healed and fully remodeled old fractures.

A

B

developmental delay, cognitive deficits, learning disabilities, attention-deficit/hyperactivity disorder, and behavioral problems are former victims of inflicted injury that went undiagnosed. Pathophysiology and Biomechanics An infant’s head is uniquely vulnerable to injury, whether from impact or from shaking, for several reasons: 1. It is relatively large, accounting for up to 10% of body weight, as opposed to 2% in the adult. This weight adds to the momentum of acceleration and deceleration forces with shaking and accounts for the fact that infants who are dropped, thrown, or bodily ejected from motor vehicles tend to land on their heads. 2. Highly elastic, underdeveloped cervical ligaments; relatively weak neck muscles; shallow, horizontally oriented cervical facet joints; and incompletely ossified and anteriorly wedged cervical vertebrae hinder an infant’s ability to protect against whiplash forces. Together they make the infant susceptible to extreme hyperflexion and hyperextension of the neck and greater head motion when subjected to acceleration/deceleration (A/D) forces. 3. The soft calvarium, which elongates with acceleration and deceleration, and the relatively large subarachnoid space place the bridging veins between the dura mater and cerebral cortex at greater risk of tearing. In addition, with impact, the pliable skull is more likely to transfer force to the underlying brain rather than fracturing and thereby absorbing some of the force along the fracture line. Even when fractures do occur on impact, greater inbending of the pliable calvarial bones still transfers much of the impacting force to the adjacent cortex. 4. Because of its higher water content, minimal myelination, and paucity of dendritic and glial connections, the brain of a young infant is far more gelatinous than that of an older child or adult. As a result, it is much more deformable when subjected to impact and/or A/D forces, and its thin unmyelinated axons are much more vulnerable to shearing injuries, especially at the gray/white matter interfaces. 5. The relatively flat calvarial base assists rotation of the brain about the brainstem when subjected to rotational acceleration. In terms of biomechanics, the majority of head injuries in children, whether accidental or inflicted, are the result of

rapidly applied dynamic blunt forces. Some are caused by direct contact forces, and some are caused by indirect inertial forces that result from A/D of the head. The distinction is somewhat arbitrary because in most cases of “contact” injury there is some degree of A/D, and most cases of “indirect” injury involve some impact or contact. In direct contact injuries the calvarium, its overlying soft tissues, and potentially its underlying intracranial contents are subjected to focal strains or distortions. When applied forces are mild, they may result in abrasion, bruising, or laceration of the scalp, and when more moderate they tend to result in calvarial fracture. When the amount of force applied rises beyond mild to moderate, skull fractures are more likely to be diastatic or complex, and transmission of impacting forces inward to intracranial structures increases, producing focal injuries ranging from epidural hematomas to focal subdural hematomas and ultimately to cerebral contusions or parenchymal shearing. The three main scenarios for contact injury are as follows: 1. A moving object such as a hand, fist, thrown missile, or swung baseball bat or golf club strikes a stationary head, which, on impact, is accelerated in the same direction as the applied force. If the head is resting against a surface (e.g., mattress or wall), it then incurs a second impact. In most cases the impacting force is linear, but if delivered with a spin, a rotational component is added. 2. A moving and thus accelerated head (in a fall while running, or as a result of being thrown, pushed, slammed, or swung and slammed) strikes a stationary object (e.g., floor, furniture, wall, lamp post). In such cases there is initial acceleration followed by deceleration on impact and then a bounce back. 3. A head in motion strikes another object in motion (e.g., two children running or backing up in opposite directions butt heads, child riding bicycle hits moving car), in which case there is acceleration in two different directions. The degree of force involved in impact injury depends on the rate of acceleration (which, in a fall, depends on the child’s weight and the distance of the fall), the type of surface struck, and the duration of impact. When an impacted or impacting surface is hard, greater focal calvarial deformation is likely to occur on impact and external signs of injury are typical. This is ameliorated to some extent by the fact that, when striking a firm or hard surface, the head tends to bounce back, reducing the duration of impact. When an infant’s or child’s head strikes a soft surface such as a pillow or mattress, it tends to



sink into it. This increases the surface area of contact and, as a consequence, focal deformation is reduced, along with the risk of surface injuries; however, duration of contact is prolonged, and thus the duration of force application. Indirect trauma due to A/D forces results in inertial loading and, depending on velocity and direction, subjects the intracranial contents to shearing strains. When great enough (e.g., forceful to violent), these can result in tearing at interfaces between differing structures (e.g., bridging veins) or at the interface of tissues of differing density (e.g., gray and white matter). A/D forces can be translational or linear, as from anterior to posterior in the sagittal plane (whiplash), or they can have a rotational component, as when forces are applied from two different directions (auto in motion is broadsided) or when the force is delivered with spin (blow delivered to side of head with “english”). Because A/D forces are more likely to produce shearing strains, they are more apt to cause diffuse intracranial injury, as opposed to contact forces, which are more apt to result in focal trauma. However, in the case of young infant abuse victims, impact trauma may also produce shearing strains, especially when the victim is thrown. Injuries caused by linear A/D forces, in the sagittal plane, may include shearing of the bridging veins between the dura and cerebral cortex, along with veins in their thin arachnoid sheaths, as well as contact injuries of frontal and occipital lobes incurred in striking their respective calvarial bones. They can be diffuse and severe, especially when the head is subjected to the to-and-fro motion of violent repetitive shaking. In this scenario, the brain and calvaria have a greater propensity to get “out of sync” in their motion, increasing shearing strains. This is further magnified by the greater deformability of the gelatinous infant brain. Application of rotational forces tends to cause even more severe injury because these are more likely to induce shearing of neuronal axons at the gray/white matter interfaces. This is because more peripheral brain structures rotate more rapidly and through a wider arc than deeper, more fixed structures. To summarize, most head injuries are caused by some combination of acceleration and/or deceleration forces and contact or impact forces. In the majority of cases of accidental trauma, especially in infants or toddlers, the forces involved are mild and the resulting injuries minor. In most cases of abusive head trauma, the forces are moderate to major and the injuries are correspondingly more severe. A chronicle of advances in recognition of the differing magnitude of applied forces and severity of injury in accidental versus inflicted impact trauma can be found in the literature on fall-related head injuries. For many years it was believed that short falls (3 to 4 feet or less) could cause severe injury. This changed on publication of a series of studies of victims of falls witnessed by people other than caretakers, and of children who had fallen from beds and examining tables in hospitals. These studies demonstrated that indoor falls of less than 10 feet (3 meters), even onto hard surfaces, did not cause serious, let alone life-threatening, head injuries. Simple linear skull fractures tended to be the most severe injuries seen, and these were associated with mild focal underlying intracranial injury only in rare instances. Furthermore, in the case of outdoor falls, injuries tended to be mild unless the activity preceding the fall added angular momentum to the forces incurred because of the height of the fall (e.g., swinging on a swing, trapeze, or jungle gym). These findings led to the recognition that study populations described in earlier literature on pediatric head trauma had included many unrecognized child abuse victims, and to refutation of the conclusions of earlier investigators that short falls and other minor mechanisms of injury could result in serious, even fatal, head trauma. Research

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has also found that accidental falls down stairs consist of a series of short falls and do not result in serious head injury unless the infant is in a walker or there was acceleration before the fall. The major identified mechanisms of inflicted head trauma include violent shaking; throwing or slamming against a hard object or a soft surface; hitting with a hand, fist, or other object; and kicking. Each is associated with application of varying degrees of impact forces and acceleration and/or deceleration. It must also be noted that many victims of inflicted CNS trauma are subjected to injury on more than one occasion. In fact, 45% of infants confirmed as victims of inflicted head trauma had evidence of prior intracranial injury on initial neuroimaging (Jenny, 1999). Evolution of Understanding of the Pathophysiology of Shaking Our current understanding of the forces involved and of mechanisms, including the role of shaking in inflicted head trauma, derives from much questioning and research over the past several decades, during which time theories have been proposed and investigated, some verified, some disproved, and others modified. In the late 1940s Caffey first described the association of subdural hematomas with multiple fractures in infants. Subsequently, the question of intentional injury was raised, and shaking was postulated as the probable mechanism, leading to the concept of the shaken baby syndrome, characterized by a constellation of findings that included subdural hematomas (Fig. 6-42), retinal hemorrhages (Fig. 6-43, A and B), and posterior rib and metaphyseal fractures (see Fig. 6-27, A; Fig. 6-28; and Figs. 6-29 through 6-31). For many years thereafter, it was believed that these injuries were due solely to shaking. Indeed, studies using monkeys, conducted in the late 1960s by Ommaya, showed that violent shaking generates rapid A/D forces, with both linear and rotational components, and that either the rotational forces or the combination of forces was necessary to produce the subdural, subarachnoid, and retinal hemorrhages seen in the animals. Subsequent advances in neuroimaging and forensic examination, together with improvements in the identification of inflicted head trauma, have expanded our knowledge of the spectrum of CNS injuries seen in abuse victims. In addition to subdural hematomas (seen particularly in the interhemispheric fissure along the falx, as well as over the cerebral convexities), subarachnoid hemorrhages, cerebral contusions, diffuse axonal injury with shearing at gray/white matter interfaces, and white matter tears have been reported. Epidural and subdural hematomas at the cervicomedullary junction in association with ventral cord contusions at high cervical levels have also been linked to shaking. In 1987 the role of shaking in producing these injuries was called into question by a group of investigators (Duhaime and colleagues) who developed an infant model using a lifesize doll with a rubber neck and weighted head. They concluded that shaking alone failed to generate sufficient g forces to cause the CNS injuries attributed to shaking in human infants and noted that, on close examination, many of their victims showed signs of impact injury. Thus they postulated that some form of impact was necessary, in addition to shaking, and suggested that the impact in patients with no external evidence of injury may have been on a soft surface such as a mattress. In reviewing old autopsy cases and carefully examining new victims, subsequent investigators have found that a majority of victims of abusive head trauma do indeed have evidence of associated impact injury, albeit at times subtle, and in some instances seen only in the form of

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A

B

Figure 6-42  Diffuse subdural hematomas in abusive head trauma. A, Acute on chronic subdural hematomas are evident on this sagittal MRI view of an infant with abusive head trauma. B, This CT scan of another infant reveals chronic subdural hematomas along the falx and over the cerebral convexities. These are seen as a dark rim along the falx and between the bony calvaria and the brain substance. (A, Courtesy Lynda Flom, MD, Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa; B, courtesy Division of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

B A

C

Figure 6-43  A, Multiple retinal hemorrhages are seen on funduscopic examination of this infant, who was a victim of abusive head trauma including shaking. Subdural hematoma and multiple metaphyseal “shake” fractures are typical associated findings. B, RetCam photograph of preretinal, intraretinal, and subretinal hemorrhages, extending to the periphery. C, RetCam photograph of traumatic retinoschisis. (A, Courtesy Stephen Ludwig, MD, Children’s Hospital of Philadelphia, Philadelphia, Pa; B and C, courtesy Tineke Chen, MD, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pa.)



petechiae and contusions over the internal surface of the galea at surgery or on postmortem examination. However, a significant percentage (ranging from 11% to 50%, depending on the series), especially of very young infants, do not have any evidence of impact. Furthermore, on the basis of confessions, it does appear that severe CNS injury can result from violent shaking alone. The validity of the Duhaime infant model has also been questioned because its neck was stiffer than an actual infant’s and, therefore, capable of less hyperflexion, and further, the forces required were derived from adult primates with mature brains. Thus some victims’ injuries appear to be due solely to shaking; others result from a combination of shaking and impact trauma; and still others from impact alone. In addition to the unique vulnerability of the young infant brain to deformation, there are two major explanations for the presence of severe injury in shaken babies who have no physical evidence of impact. One is that when the child’s head strikes a soft surface, no external marker of impact may be left. The other relates to the fact that repetitive impacts actually do occur with shaking alone, especially when a very young infant with poor head control is violently shaken back and forth over and over again. These impacts consist of the chin hitting the chest and the occiput hitting the vertebral column at opposite ends of the arc of head motion. In the process, impacts of the frontal lobes against the frontal bone and the occipital lobes against the occipital bone occur with attendant brain deformation, on both impact and rebound. Further, in the course of violent shaking, the perpetrator’s motion may not be consistently linear, the baby may turn its head to avert its gaze from the perpetrator, or the infant may lose consciousness (and therefore tone) in the process of being shaken, the head then lolling down and slightly sideways, thereby introducing rotational momentum to the A/D forces. Most victims of suspected shaking are less than 1 year of age, frequently under 6 months, and most have no external signs of injury, although careful inspection may reveal faint finger impression bruises (see Fig. 6-13). On the basis of confessions and videotapes obtained with hidden cameras, it is now known that the infant is subjected to repetitive, violent shakes usually while being held by the trunk facing the perpetrator, less often when grasped by arms and shoulders or by hands or feet. Metaphyseal fractures, posterior rib fractures, and retinal hemorrhages appear to be highly specific for shaking, especially when seen in combination with subdural bleeding. Retinal hemorrhages, typically numerous, diffuse, often extending out to the periphery, and located in multiple layers of the retina, are found in 70% to 90% of infants and children with inflicted head injury and in nearly 100% of those who suffer serious sequelae and death (see Fig. 6-43). Although the uniqueness of their association with shaking has been the subject of some controversy, studies of infants and children whose accidental severe head trauma was witnessed have shown that the incidence of retinal hemorrhages is vanishingly small and is largely limited to children who incurred severe crush injuries to the head; who suffered high-velocity, lateral impact rotational injuries; or who incurred injuries outdoors in falls while swinging on playground equipment or jumping on a trampoline, which involved significant angular momentum. In the rare reports of accidental in-home falls resulting in subdural hematomas with retinal hemorrhages, each case involved significant momentum from being swung, falling down stairs while on the move in a walker, or a straight fall of 8 to 10 feet onto concrete. Each child was brought promptly for care and had no associated injuries or history of injury. Subdural hemorrhages were small and resolved in 24 to 48 hours. Furthermore, in these accident scenarios the

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retinal hemorrhages seen were fewer in number and tended to be localized over the posterior pole. Similarly, research on children who have undergone prolonged cardiopulmonary resuscitation has revealed a very low incidence of retinal hemorrhages, and the majority of cases in which they were found involved victims of abuse or massive accidental head injury. A small minority were suffering from malignant hypertension, coagulopathy, or septic shock. Traumatic retinoschisis (Fig. 6-43, C) is not described with trauma-induced coagulopathy other than with abusive head trauma. Similarly, posterior and lateral rib fractures have not been found following prolonged cardiopulmonary resuscitation in either infants or animal models. Thus when cardiopulmonary resuscitation is given as an explanation for head trauma with retinal hemorrhages and rib fractures, it is false. Clinical Picture of Inflicted Head Trauma Modes of presentation of inflicted head trauma vary, depending on the age of the victim and severity of injury. When signs and symptoms are mild, no care may be sought, and if it is, there is often a significant delay between the time of the injury and time of presentation. When there are no external signs (which is often the case), a history of trauma is almost never reported. An unrelated chief complaint or a history of nonspecific symptoms such as vomiting, lethargy, irritability, or trouble breathing is likely to be given when neurologic abnormalities are not blatant. When injuries are more severe, complaints of unresponsiveness, shaking or stiffening spells, and apnea or choking are more likely to be reported. In patients with significant contact injuries and obvious surface bruising, a chief complaint of a bump on the head may be given with a history of a minor mechanism of injury such as rolling off a couch and falling 15 to 18 inches to a carpeted floor, or the caretaker may report having dropped the baby a short distance (usually 10 feet and falls with angular momentum as from swings, trapezes, or trampolines), bicycle and sports accidents, and motor vehicle accidents. In evaluating an infant or toddler who presents with a history of minor trauma but is found to have intracranial bleeding, especially one with subdural hematomas and retinal hemorrhages, it is important to rule out coagulopathy or the presence of an underlying disorder that makes the child unusually susceptible to development of subdural bleeding. A coagulopathy can be ruled in or out by obtaining a complete blood cell count with differential and platelet count, prothrombin and partial thromboplastin times, and, if necessary on the basis of family history, a von Willebrand or full coagulation profile. In two disorders, benign extraaxial fluid collections (BEAFCs) and glutaric aciduria type 1 (GA1), subdural hematomas and retinal hemorrhages can be seen following minimal trauma. These must be considered in the evaluation and distinguished from abuse.

Disorders Simulating or Predisposing to Subdural Hemorrhage Benign Extraaxial Fluid Collections In BEAFCs, also known as benign external hydrocephalus, macrocephaly is associated with bilateral symmetrical widening of the subarachnoid space (SAS), most prominently in the frontal and frontoparietal areas and along the anterior interhemispheric fissure and the sylvian fissures. This expanded space is filled with cerebrospinal fluid. Usually the ventricles are normal in size or only slightly enlarged, and there is no evidence of increased intracranial pressure (ICP). The condition is thought to be due to transient mild impairment of cerebrospinal fluid resorption by the arachnoid villi. Widening of the SAS results in significant stretching of the bridging veins that run from the cerebral cortex to the dural venous sinuses, and it is thought that being stretched makes them more vulnerable to tearing in the face of minimal or minor trauma. Infants with BEAFCs are usually diagnosed as a result of imaging performed as part of an evaluation for macrocephaly or enlarging head circumference. Most are neurodevelopmentally normal, although some may have mild delays and hypotonia. Many have a family history of macrocephaly that suggests autosomal dominant transmission. Usually the abnormality resolves spontaneously with normalization of findings on imaging by 2 to 5 years of age. Approximately 10% of infants monitored with BEAFCs develop subdural hematomas in association with retinal hemorrhages, either “spontaneously” or after a minor head bump. Although some of these infants have had associated seizures and/or mild transient alterations in consciousness, most appear relatively normal neurologically even on presentation with subdurals. On MRI the subdural hemorrhages are usually small, and diffuse enlargement of the subarachnoid space (occupied by cerebrospinal fluid) is easily appreciated. Importantly, these infants tend to be brought in promptly for care when symptomatic or after falls, are accompanied by appropriately concerned parents, and have no associated injuries. BEAFCs can be distinguished from cerebral atrophy as the sulci are not widened and because of the greater prominence of SAS widening frontally. In communicating hydrocephalus ventricular enlargement is much more prominent, and symptoms of increased ICP may be present.

Glutaric Aciduria Glutaric aciduria type 1 (GA1) is an autosomal recessive disorder resulting in deficiency of glutaryl-CoA dehydrogenase. Affected infants appear relatively normal at birth, although approximately 40% are born with mild macrocephaly, and over ensuing months, these infants gradually cross toward the 97th percentile. Nonspecific neurologic signs consisting of irritability, jitteriness, mild hypotonia, and feeding problems are common in the first 6 months, then improve, and by a year most appear normal except for slight gross motor delays. If undiagnosed and untreated, most affected infants develop an acute encephalopathy between 12 and 18 months of age usually in association with an acute upper respiratory or gastrointestinal infection. Subsequently, they are left with severe dystonias and dyskinesias and suffer major regression in milestones. Findings on neuroimaging, whether performed before or after the severe encephalopathic event, include marked bilateral frontotemporal atrophy along with prominent widening of the sylvian fissures and delayed myelination. Twenty to thirty percent have associated chronic subdural effusions and/ or hematomas. After the encephalopathy, basal ganglia atrophy also becomes evident. As in children with BEAFCs, it is thought that the marked widening of the subarachnoid space due to cortical atrophy results in stretching of the bridging veins, making them more vulnerable to shearing with minimal trauma. When subdurals are present, retinal hemorrhages are also seen. Interestingly, the subdurals may or may not be associated with symptoms. The presence of marked cerebral atrophy in association with subdural hematomas (Fig. 6-81) helps distinguish GA1 from both inflicted head trauma and BEAFCs. No skeletal abnormalities are associated with GA1, and usually no other evident injuries exist unless irritability has provoked abuse. Strong evidence indicates that diagnosis and institution of treatment before an encephalopathic event can prevent the encephalopathy and subsequent movement disorder. Hence neuroimaging and testing for GA1 should be strongly considered in the evaluation of infants with mild macrocephaly, especially if they are fussy, jittery, and/or hypotonic.

Subdural Hematomas and Osteogenesis Imperfecta There have been scattered reports regarding a small number of children with OI who have presented with subdural hematomas and retinal hemorrhages. On close review the numbers are small, the histories given often incomplete, and the presence of associated injuries (i.e., femur fracture in a child with mild OI who was not yet walking, and three spiral fractures in three different long bones in another) raises suspicion of inflicted injuries. Hence, it is not clear and probably unlikely that infants with OI are more susceptible to developing subdural hematomas than normal children.

Differentiation of Accidental from Inflicted Oral Injuries Falls and sporting and bicycle accidents are the usual sources of accidental oral injuries. These include lip and chin lacerations (see Fig. 20-55); fractured, loosened, or avulsed teeth (see Figs. 20-59 through 20-64); and gingival, lingual, palatal, or retropharyngeal lacerations, the latter resulting from falls with an object in the mouth (see Figs. 20-54, 20-56, and 23-72). These injuries, like head injuries, provoke considerable parental anxiety and result in prompt presentation for care, with a clear history and consistent mechanism of injury.

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A

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Differential Diagnosis of Accidental versus Inflicted Chest and Abdominal Injuries Accidental chest and abdominal injuries in children are predominantly the result of major blunt force trauma and may be similar in nature to those caused by abuse. However, victims of accidental injuries have a clear history of a major mechanism of injury, such as a major motor vehicle accident, that was often witnessed. Immediate care is sought, and findings are consistent with the history.

SEXUAL ABUSE Sexual abuse is defined as the misuse of a child for the sexual gratification of an adult. In sexual abuse the perpetrator misuses his or her power over a child, involving her or him in sexual activities that may or may not involve physical contact. The best available data indicate that in the 1980s there was a significant rise in the number of reports of sexual abuse, stemming in part from increased public and professional awareness, and in part as a consequence of a greater willingness of victims to disclose the abuse. This trend appears

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Figure 6-81  Glutaric aciduria type 1. This 3-month-old infant was brought to the emergency department with complaints of being limp and unresponsive with a recent history of pneumonia. The initial history given was that while alone with his father, he had suddenly become lethargic, his eyes had rolled back, and he had stopped breathing for a few seconds. Lethargy resolved soon after arrival. A, A head CT obtained because retinal hemorrhages were found revealed diffuse acute and subacute/ chronic subdural hemorrhages over the convexities in the frontotemporal areas, as well as more acute collections along the posterior interhemispheric fissure and over the right frontal area. B and C, On MRI large acute on chronic subdural hemorrhages were confirmed, along with early signs of atrophy including mild flattening of the gyri, sulcal widening, and mild ventricular enlargement. This prompted testing for possible glutaric aciduria, which was positive in results obtained 1 week later. Interestingly, in the interim, the father acknowledged having shaken the baby after he didn’t feed well, whereupon he went limp.

to have reversed since 1992, and data from 2009 indicate that there has been a 61% decrease in substantiated sexual abuse cases between 1992 and 2009. Given the fact that 20% of adult women and 5% to 10% of adult men report having been sexually abused before 18 years of age, it appears that sexual abuse still continues to be underreported, especially among males, and it is estimated that substantiated cases constitute less than one third of all cases of sexual abuse. Extrapolating prevalence data to a pediatric practice of 1500 children, it is likely that 12 of them will be abused each year, only 8 of whom will disclose their abuse to a professional, not necessarily a pediatrician. It is of concern that only 40% of cases disclosed to professionals are then reported to authorities, despite mandatory reporting laws in all 50 states. Also worrisome is the fact that CPS will be able to substantiate only half of the cases disclosed and reported to them, for a variety of reasons, sometimes unrelated to the veracity of allegations. Forms of sexual abuse may include visual exposure to exhibitionistic, masturbatory, or copulatory behavior; fondling, masturbation, and digital manipulation; oral/genital contact; and direct genital contact including penetration or

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attempted penetration of the vagina, anus, or mouth. Approximately 25% of cases reported retrospectively by women involve vaginal or orogenital penetration. Data regarding perpetrators indicate that approximately 40% are parents or stepparents, and 25% are other relatives. Strangers probably constitute no more than 10% of perpetrators. The rest are people who are known by but unrelated to the victim. By far, the majority of perpetrators are male. Adult females, who are responsible for 20% of abusive sexual contact with prepubertal males, are much less likely to be reported. Adults who prefer children and young adolescents for physical sexual gratification are pedophiles. They should not be confused with homosexuals who mutually prefer same-sex partners in their own age range. Although some pedophiles may be more restrained than others, many tend to be compulsive in seeking their victims. It is also important to recognize that they often marry or cohabit with an opposite sex partner, in part as cover and in part so as to victimize their children. Most perpetrators of sexual abuse do not fit the definition of pedophile. Of increasing concern is the fact that more and more children are disclosing that they have been exposed to pornography and have been used as subjects in pornographic photographs and videotapes, which have ever more sophisticated distribution over the Internet. Furthermore, the Internet, through use of chat rooms, has become a major vehicle for pedophiles to seek, find, and entice victims. The issue of “sexually reactive” children is another concern, and it is important to distinguish this behavior from normal sexual play. Children who entice or coerce other children into sexual behavior, simulate intercourse, or try to insert foreign objects into themselves or other children may be evincing “sexualized behavior” because they themselves have been victims of sexual abuse. Hence they too should be evaluated in addition to their victims. Rape, which by legal definition is “forced sexual intercourse” and may involve penetration, however slight, may occur with the use of physical force or coercion and the misuse of a power relationship. Adolescents have the highest rates of rape of any age group and, in general, tend to delay or avoid seeking care after being assaulted. Male victims are even less likely to report the assault or seek care. Not infrequently, adolescents who are raped have been using drugs or alcohol or have been given drugs surreptitiously before the event. The “date rape drug” flunitrazepam (not legally available in the United States), which is colorless and tasteless and usually administered in a drink or beverage, is reported to have increased the incidence of rape, despite the fact that reported rapes have been decreasing in frequency since 1992. If the perpetrator of sexual abuse is a family member or acquaintance, the encounter is more likely to be physically nonviolent, with persuasion, bribery, or threats used to enlist the victim’s cooperation. Not infrequently, these experiences are repetitive and occur over long periods of time. There is a well-described pattern of escalating levels of involvement, with initial fondling and digital manipulation progressing to actual penetration. The victim’s cooperation and subsequent silence may be ensured by various means including persuasion, bribes, gifts, praise, fear of the perpetrator’s power, and/ or threats of dire consequences if the child discloses the abuse. Thus the victim bears both the guilt of engaging in unwanted sexual activity and the pressure of keeping it secret. Absence of physical violence or injury does not imply consent, as the offender is usually in a position of power over the victim, making it difficult for the child both to refuse to engage in the activity and to disclose it. It is very common for children to disclose sexual abuse long after the abuse occurred or not at all. There is evidence that less than 40% of adults sexually

abused as children disclosed their abuse during childhood. Children abused by family members or family friends have also disclosed fears of being harmed or of having other loved ones or pets injured, or even killed, by the abuser. Episodes perpetrated by strangers are more likely to be isolated incidents and involve physical violence, adding the emotional stress of being in a potentially life-threatening situation. Forensic requirements for a detailed history, physical examination, and multiple laboratory specimens (all carefully documented) necessitate a lengthy evaluation that, if not sensitively handled, can compound existing emotional trauma. This can be minimized if the physician approaches the patient and family with patience, gentleness, and tact. If the disclosed sexual abuse does not involve allegations requiring collection of evidence of ejaculate and/or if there is no bleeding or significant discomfort, the physical examination may be postponed; conducted in stages; or, if necessary, performed under anesthesia or conscious sedation. Because physical findings are normal in up to 96% of cases, and, even if abnormal, are frequently nonspecific, the history is the most important aspect of the evaluation. Hence it is essential that historical information be documented meticulously, if possible verbatim, because many of these cases have the potential for legal prosecution, usually months to years later. Ideally, this history is obtained by an experienced clinician, using forensic interviewing principles. Clinicians should avoid asking leading questions, although in certain situations, after all other avenues have been exhausted, such questions may be necessary in order to elicit enough information to ensure protection of the child. When possible, the parent or persons accompanying the child should be interviewed first, apart from each other and separately from the child. During this interview one can obtain information about the youngster’s emotional status and recent behavior, present and past history, family psychosocial situation, household members or other persons caring for the child, people who share or visit the home frequently who might have unwitnessed access to the child, the events that appear to have led to the disclosure or suspicion of abuse, and terms used by the child for body parts. When the chief complaint is not sexual abuse, but findings on examination point to molestation, this information should be sought in a further interview with the parent, or parents, after the examination, with the child out of the room. In approaching the child, it is essential for the clinician to show kindness, empathy, and gentleness. Importantly, one should not convey shock or disgust or presume what the child’s reactions to the abuse may have been. If the child is willing and able to give a history, it, as well as the exact phrasing of the questions asked, should be documented verbatim. In the initial portion of the interview, talking about favorite subjects such as friends, favorite toys, games, and activities can help reduce the child’s anxiety and establish rapport between him or her and the clinician. Thereafter, it is best to begin with general questions, reserving more specific questions for clarification. If the child is unwilling or unable to discuss the episode or episodes, and there is a strong suspicion that sexual abuse has occurred, a return visit or referral for a session with a forensically trained clinician is recommended. In such interviews a variety of alternative techniques can be used if the child still has difficulty disclosing verbally. These include having the child try to draw what happened (Fig. 6-82), demonstrate what happened with anatomically correct dolls, or write about the incidents. Documentation of the manner in which disclosure occurs is important. When children give spontaneous detailed descriptions of sexual experiences in language appropriate to their

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C Figure 6-82  A to C, Drawings by a school-age sexual abuse victim. Although the child had difficulty verbalizing a description of the abuse, she was able to clearly depict the acts in her drawings.

developmental level, these are usually accurate. Asking nondirective developmentally appropriate questions to ascertain the site where the activity occurred and the number of times it happened, as well as questions related to such things as clothing worn, can be useful in documenting the child’s credibility. Also important is determining the patient’s understanding of the need for accuracy in relating the history and of the difference between telling the truth and telling a lie. This further aids in determining not only the child’s credibility but also his or her ability to testify in court. Most areas now have access to child advocacy centers with trained forensic interviewers whose interviews can be videotaped and are conducted in a manner that is forensically defensible. If the physician sees the child first they should obtain enough history so that they can help determine what testing is appropriate and can contribute to determining appropriate placement so that the child is not continuing to be exposed to the same perpetrator. Recognition of the problem of false accusations of sexual abuse made in the heat of child custody battles has raised

questions regarding the veracity of many such claims. Findings from ongoing research suggest that if the child’s disclosure is made without benefit of leading questions and is reported with feeling and often some hesitancy, and in age-appropriate terms, the report is more likely to be accurate. In contrast, children coached to make false claims tend to relate the history in a rote manner and often use adultoriented words. Other problems have arisen when the child has been required to repeat the history to multiple authorities—family members, physicians, CPS workers, psychologists, attorneys, and detectives. When this occurs, many victims begin to sound robotic in their reports (raising questions regarding their truthfulness) and others become so traumatized by the repetition and the impact on their family that they recant their story to avoid further painful questioning. In an effort to address this, many centers have developed a team approach in which an experienced clinician trained in forensic interviewing techniques conducts the interview while being observed by members of law enforcement and CPS

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and/or videotapes the interview, thereby reducing the number of interviews the child must undergo. It is important to caution distraught or unbelieving parents and family members against asking the child repeated questions about the abuse. Before proceeding with the physical examination, one should convey to the child that the purpose is not to determine the veracity of the history but to ensure his or her continuing health. Sharing details of the examination process with the adults accompanying a young child and providing reassurance that a speculum will not be used is also helpful as many fear that the examination will be invasive. This can allay much parental anxiety, which in turn helps them to reassure the child during the process. After physical assessment, it is important to convey that there is no permanent damage related to physical function because that is another common concern for both parents and children. Giving the child some feeling of control over the examination process in a number of small ways helps avoid further trauma and may aid in starting the child along the process of recovery. This can be accomplished with a surprisingly high proportion of children by an examiner who is comfortable with the process. Letting the child look at familiar objects such as an item of clothing through the colposcope or demonstrating to a young child, in a playful way, that the light on the colposcope is not hurtful may help. Allowing the child to choose the order in which various nonessential areas are examined can be calming, as well. A thorough and complete physical examination is warranted for all patients suspected of having been sexually abused, with inspection of the genitalia and rectum deferred until last. Each part of the process should be explained as the examiner proceeds. If possible, and the child so chooses, a parent or supportive adult should be present. In our experience with prepubescent patients, external inspection of the genitalia suffices in the majority of cases and the insertion of a speculum is almost never indicated. If the attempt to examine the perineum provokes anxiety that cannot be allayed and there is gross bleeding, pain, discharge, or suspicion of sexually transmitted disease, the examination and specimen collection should be performed with the patient under general anesthesia or deep conscious sedation. When the patient is too anxious to proceed and is asymptomatic with no evidence of trauma, bleeding, discomfort, or discharge, the procedure can be deferred and performed at a follow-up visit. The child must not be made to feel that he or she is being assaulted yet again during the examination and interview process.

Modes of Presentation The majority of cases of sexual abuse do not involve physical violence; most patients have no signs of injury. In most instances (up to 96%), either there are no physical findings specific for sexual abuse or the examination is completely normal. Many reasons for the absence of physical findings exist even when there is a confession of vaginal penetration by the perpetrator. These include the fact that penetration may only extend to the labia, the hymen being recessed from and internal to the labia; the delay in disclosure so common in young victims; the rapid healing of injuries involving the mucosa; the elasticity of hymenal tissue; the fact that hymenal tissue is capable of regrowth and that, with the onset of puberty and increased estrogen production, the hymen regrows and becomes more elastic; the fact that the anal sphincter can distend considerably; and the possibility that perpetrators of sexual abuse may have erectile and/or ejaculatory dysfunction, as do many adult rapists.

In cases of sexual assault involving violence and resulting in major injury, a significant proportion of victims seek medical care promptly. Most acknowledge the nature of the problem at the time of presentation, and physical findings are more often positive. However, even in some of these cases a history of an accidental mechanism of injury that does not fit the physical findings is given. In these cases too there is evidence of the resolution of physical findings over time, although rarely in cases of complete transection of the hymen (Fig. 6-84, A-F). Although there has been a significant increase in the percentage of patients who have disclosed inappropriate touching before presentation, it continues to be true that some victims of long-term sexual abuse may present with vulvovaginitis with vaginal discharge caused by a sexually transmitted pathogen or with substitute chief complaints generated by physical or emotional sequelae (Table 6-7). There are many such complaints that are somewhat age dependent, and each of which has many potential causes other than sexual abuse. Although there is a wide range of differential diagnostic possibilities in patients presenting with many of these problems, sexual abuse should be considered and addressed among the differential diagnostic considerations, and not merely after all other causes have been ruled out. When a child presents with a substitute chief complaint and/or has a history of compulsive masturbation, witnessed self-insertion of foreign objects into the vagina, and unusually sexualized behavior, the likelihood that he or she has been a victim of sexual abuse is high. In older preteen and teenage victims, signs of self-inflicted injury may be seen on occasion (see Fig. 6-83). During the evaluation of children presenting with substitute chief complaints, it is appropriate to ask questions of parent and child separately about the possibility of inappropriate touching, and if there is any suspicion of this, a more detailed psychological assessment performed by a specially trained clinician is warranted. Even with skilled evaluation, a significant proportion of these victims do not disclose immediately. This, in our experience, seems to be particularly true of children seen for signs and symptoms of a sexually transmitted disease. However, after repeated visits with a single clinician during a stepwise evaluation for the underlying cause of their problem, many are able to develop enough trust to disclose sexual abuse or another source of their stress. A team approach may be particularly valuable in such cases.

Table 6-7

Most Common Substitute Chief Complaints in Sexual Abuse Cases*

Any Age

Preschool Age

Adolescence

Decreased school Same as school performance age plus: Truancy   Runaway Lying, stealing behavior Tics   Suicide Anxiety reaction attempts Phobic and   Self-inflicted obsessional injury states   Commission Depression of sexual Conversion offenses† reaction Encopresis/ enuresis *Most of these complaints are also symptomatic of disorders more prevalent than sexual abuse. † Symptoms highly suggestive of sexual abuse. ‡ Symptoms somewhat suggestive of sexual abuse.

Abdominal pain Anorexia Vomiting Constipation Sleep disorders Dysuria Vaginal discharge‡ Vaginal bleeding‡ Rectal bleeding

Excessive clinging Sudden onset of excessive thumb sucking Speech disorder Encopresis/ enuresis Excessive masturbation†

School Age

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Figure 6-85  Use of Foley catheter to enhance visualization of the full extent and margins of the hymenal membrane. The catheter is inserted through the hymenal orifice, and the balloon is inflated while in the vagina and then gently pulled forward. It can then be angled to the left or right or downward to ensure a full view of all segments. (Courtesy Earl Greenwald, MD, Harrisburg, Pa.) Figure 6-83  Self-inflicted injury, a finding that should raise concern about abuse and depression.

Examination Techniques Perineal Examination Several techniques may be used for examination of the genital and perianal areas in different age groups. In the postpubertal age group, a standard gynecologic examination can usually be performed with the patient in the lithotomy position (see Chapter 18). When an estrogenized hymen is redundant, a saline-moistened swab (see Fig. 6-84, A and B), or a glovecovered swab (see Fig. 6-84, C-F) may be inserted through the orifice and then used to spread out the membrane segment

by segment in order to better assess for the presence of contusions, tears, notches, or scars. This is not painful and is therefore possible in adolescents and peripubertal children because, once estrogenized, the hymen is not nearly as sensitive as it is before puberty. Alternatively, a Foley catheter may be inserted, the balloon inflated within the vagina, and then gently pulled forward as a means of spreading out the hymenal tissue for better visualization (Fig. 6-85). In cases of acute injury, consideration must be given to the severity and extent of the injuries before proceeding. If examination and specimen collection are likely to cause severe physical pain or emotional distress to an adolescent patient, or if internal injuries are likely, strong consideration should be given to examination under conscious sedation or even general anesthesia.

C A

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E

F

D

Figure 6-84  Prior sexual abuse: complete transection of the hymen. A, This young teen reported sexual assault several months earlier. Examination was performed by labial separation. B, Examination with a Calgiswab demonstrates a complete hymenal transection that would have been missed had this technique not been used. C, Pregnant adolescent showing what appears to be a normal redundant hymen. D, However, a complete transection at the 8 to 9 o’clock position was found using a large swab covered with a blue glove. E, Blue swab. F, Swab on blue glove. (C-F, Courtesy Joyce Adams, MD, Rady Children’s Hospital, San Diego, San Diego, Calif.)

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In the prepubertal child the purposes of the perineal examination are (1) to obtain full visualization of the patient’s perineal and perianal anatomy; (2) to detect any evidence of acute injury, infection, distortion of anatomy, or scarring indicative of prior injury; (3) to assess the amount and appearance of hymenal tissue and to determine the size and configuration of the hymenal orifice; and (4) to collect specimens as indicated. If abnormalities of the hymen are seen, the membrane may be “floated” up by inserting saline into the vaginal area. As noted earlier, internal examination is not necessary unless there is evidence of internal extension of injury, and, in such cases, the examination, specimen collection, and repair should be done in the operating room under general anesthesia. In examining prepubescent patients, a number of positions may be used to achieve visualization of the genital area. The one most commonly used is the supine frog-leg position, with the patient lying supine on the examining table. This position can also be achieved with the child semireclining on the parent’s lap—the semisupine frog-leg position. We have also had good success with the semisupine lithotomy position (see Fig. 18-6, A and B). The latter is accomplished by having the parent sit on the examining table and lean back. The child sits on her lap, with the buttocks resting just above the parent’s knees, and leans back. The parent then places her hands under the patient’s knees, flexing them and abducting the hips. The knee–chest position (Fig. 6-86, A) provides the best exposure of perineal structures and generally a clearer picture of anatomic features and abnormalities (Fig. 6-87; see also Fig. 6-96). Most experts now tend to use the knee–chest position only in situations in which suspicious findings are found in the supine position and are to be confirmed or negated, or when the hymen has not been adequately visualized in the supine position. The child’s shoulders and chest must touch the table, achieving a swayback posture. The knee–chest

position is difficult for children younger than 2 years of age, however, and some older children object to it. Nevertheless, most children can be made comfortable with the knee–chest position and helped to relax by engaging them in an ongoing conversation about an unrelated subject, having the child count as high as she can, or using a variety of visually interesting toys (e.g., kaleidoscopes, oil-based timers) held by an assistant at eye level. We also have the child practice the position while fully clothed before the examination (Fig. 6-86, B-E). To assist visualization of the introitus in the supine or semisupine frog-leg or lithotomy position, the labia must be separated manually. In the labial separation method, the examiner places the index fingers over the lower portion of the labia majora and gently presses downward and laterally. In the labial traction technique, the labia majora are grasped between the thumbs and index fingers and gently pulled toward the examiner and very slightly downward. The latter usually achieves better visualization of the hymen and its orifice and the greatest hymenal opening with the child in these positions, and it is often possible to see the posterior aspect of the lower third of the vagina by this technique (see Figs. 18-2 and 18-7). It is important to bear in mind that one should be careful not to use undue force when applying labial traction so as to avoid tearing any labial adhesions present or causing undue discomfort. On occasion, these tears created during the process of examination may be mistaken for acute physical findings. It is important to examine this area carefully before applying any pressure or starting examination by labial separation or traction. In the knee–chest position, exposure of the introitus is assisted by placing the thumbs over the edge of the gluteus muscles at the level of the introitus and lifting them upward. As the hymen drops down with gravity in the knee–chest

A

B

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D

E

Figure 6-86  Knee–chest position. A, The sway-back position with knees widely separated assists examination and provides the best visualization of anatomic structures and abnormalities. B-E, After looking at enlargements of this series of photographs, the patient practices getting into position while still fully clothed. The steps are (B) kneel, (C) sit back, (D) stretch arms out and place arms and chest on table, and (E) move forward. This helps children become more comfortable with being examined from behind.

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Figure 6-87  Variation in the transverse or horizontal hymenal diameter with position and technique. A, Supine with labial separation. B, Supine with labial traction. C, Lithotomy with more labial traction. D, Knee–chest position. Note that the hymenal orifice is widest with good traction and that the hymen appears wrinkled and thickened in B and C. This is due to a mild redundancy. In the knee–chest position, the hymen unfolds and drops down with gravity and is seen to be thin with smooth, sharp edges having fully stretched out.

position, its width and margins are more easily assessed. Transverse diameter of the hymenal orifice varies with position and amount of relaxation and by itself is no longer considered a useful measurement in assessing for signs of sexual abuse (see Fig. 6-87 and Fig. 6-88, A and B; and see Fig. 18-7). Rather, assessment of the appearance of the hymen and surrounding tissues is far more valuable. Good lighting and magnification are also important. Use of a colposcope is ideal, but most practitioners do not have access to this device. Alternatively, a magnifying halogen lamp or an otoscope may be used. The latter device is most readily available, but the child must be reassured that this is being used only to get a good view with the light and that no speculum will be used as it is for ear examinations. A complete description of the appearance of the genitalia, using anatomically correct terms, must be documented in the chart (Fig. 6-89). If at all possible, magnified photographs of the genital area should be taken, as these may obviate the need for reexamination if a second opinion is requested. Documentation should include (1) Tanner staging; (2) the presence or absence of an abnormal degree of erythema or of discharge; (3) the presence or absence and location of bruises, abrasions, or lacerations of the labia majora and perineum; (4) the appearance of the vestibule and (5) of the labia minora; (6) the presence, extent, and character of labial adhesions (thin and translucent or thickened); (7) the appearance of the posterior fourchette and presence or absence of scarring; (8)

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D

the configuration of the hymen (annular, crescentic, redundant), and the appearance of its edges (e.g., thin and sharp, thickened or rolled, notched); and (9) the width of hymenal tissue from its attachment to its margin, especially if it is less than 1 mm wide (see Fig. 6-88, A and B), and its regularity. Also important is recording the patient’s position and method used to separate the labia. Such documentation requires knowledge of basic gynecologic anatomy and terminology, which are shown in Figures 6-89 and 6-90 and given in Table 6-8 (see also the section Differential Diagnosis of Sexual Abuse, later; and the section Normal Female Genitalia in Chapter 18). If acute external contusions or tears are seen, internal injury must be suspected. The prepubertal girl is particularly vulnerable to severe internal trauma as a result of forceful penetration of either the vagina or rectum (Fig. 6-91). This stems from the fact that the structures are relatively small and the tissues more delicate and rigid than is the case after estrogenization. Young children with relatively mild external injuries may, in fact, have major internal tears including perforation of the peritoneum and damage to pelvic vessels, mesentery, and intestine (see Figs. 18-18 to 18-20). Signs of internal injury may be subtle, but such patients will have evidence of vaginal bleeding or of a vaginal hematoma, and some may have lower abdominal tenderness or evidence of occult blood loss. Therefore when such findings are present, an exami-nation under anesthesia is indicated. In contrast, the postpubertal female

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Table 6-8

Gynecologic Anatomic Terminology

Anal verge Anterior commissure Clitoris Fossa navicularis/posterior fossa Hymen Labia majora Labia minora Median raphe Mons pubis Perianal folds Perineal body Perineum Posterior fourchette Vagina Vaginal vestibule Vulva

The tissue overlying the subcutaneous external anal sphincter at the most distal portion of the anal canal, extending exteriorly to the margin of the anal skin The union of the two labia minora anteriorly A cylindrical, erectile body situated at the superior portion of the vulva, covered by a sheath of skin called the clitoral hood or prepuce Concavity of the lower part of the vaginal vestibule situated inferiorly to the vaginal orifice and extending to the posterior fourchette (posterior commissure) A thin membrane located at the junction of the vestibular floor and the vaginal canal that partially covers the vaginal orifice Rounded folds of skin forming the lateral boundaries of the vulva Thin longitudinal folds of tissue enclosed within the labia majora; in the prepubertal child they extend from the clitoral hood to the midpoint of the lateral wall of the vestibule. After puberty they lengthen and join posteriorly (inferiorly), thereby enclosing the structures of the vestibule Ridge or furrow that marks the line of union of the two halves of the perineum Rounded, fleshy prominence, created by the underlying fat pad, which overlies the symphysis pubis Wrinkles or folds of the skin of the anal verge that radiate from the anus The central tendon of the perineum located between the vulva and the anus in the female and between the scrotum and anus in the male The pelvic floor and associated structures bounded anteriorly by the symphysis pubis, laterally by the ischial tuberosities, and posteriorly by the coccyx The junction of the two labia minora inferiorly (posteriorly). This is termed the posterior commissure in the prepubertal child, as the labia minora are not completely developed and have not extended and joined posteriorly or inferiorly as they do after puberty The uterovaginal canal extending from the inner aspect of the hymen to the uterine cervix Anatomic cavity containing the opening of the vagina, the urethra, and ducts of the Bartholin glands; bordered by the clitoris superiorly, the labia laterally, and the posterior commissure (fourchette) inferiorly, and encompassing the fossa navicularis immediately inferior to the vaginal introitus The external genitalia or pudendum of the female; includes the clitoris, labia majora, labia minora, vaginal vestibule, urethral orifice, vaginal orifice, hymen, and posterior fourchette (or commissure)

Modified from the American Professional Society on the Abuse of Children.

can usually be adequately assessed by careful pelvic examination, with use of a Foley catheter or Q-tip to enhance visualization of the hymenal surface and margins (see Fig. 6-84, A and B, and Fig. 6-85). However, if, despite good emotional support, reassurance, and careful preparation, she is emotionally unable to tolerate the procedure, an examination under anesthesia is also advisable. Perianal Examination Rectal penetration (sodomy) is a common form of sexual abuse in both boys and girls. Care should be taken to look for evidence of abrasions, tears, fissures, and other lesions.

Immediate dilation of the sphincter to greater than 2 cm on adopting the knee–chest position has been considered suspicious for sexual abuse, when there is no visible stool in the rectum. The significance of this finding is debated. Venous congestion of the perianal area occurs within minutes of the child being placed in the knee–chest position, may also occur in the lithotomy position, and does not indicate evidence of abuse (see Fig. 6-106, B). The absence of physical findings is the norm and does not make the history any less credible. In most cases of sexual abuse, external inspection of the perianal area with spreading of the anal folds is sufficient; however, after specimen collection, rectal examination is necessary in

Figure 6-88  The superiority of visualization using the knee-chest position is demonstrated in a child. A, The hymenal rim appears narrowed to less than 1 mm in the supine position. B, In the knee-chest position, more hymenal tissue is observed and has a thin smooth edge. This is considered normal.

A

B

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Figure 6-89  Documentation of physical findings required in sexual abuse evaluation.

Interview Personnel involved, timing Record exact questions asked and answers verbatim (may be used in court) Avoid leading questions if possible

Physical exam General exam Tanner staging Scarring/bruising

Genital exam Magnification used Position/technique Supine or semisupine frog-leg or lithotomy with labial separation Supine or semisupine frog-leg or lithotomy with labial traction Knee-chest, sway-back Degree of relaxation

Perineum/labia Lacerations Abrasions Location Erythema Bruising Discharge

Vestibule Erythema Urethra

Hymen Configuration (annular, crescentic, redundant, septate) Edges Thin and sharp Thickened Rolled Projections Notching Vascularity

Posterior fourchette Labial adhesions Neovascularization Friability

Hymenal orifice Horizontal diameter (position in which measured) Vertical diameter

Mons pubis Prepuce of clitoris Clitoris Urethral orifice Labia minora Hymen Labia majora Posterior fourchette Perineal body

Anterior commissure Vestibule Hymenal orifice Fossa navicularis Median raphe Anus

Figure 6-90  Normal anatomy. Location of the genital structures of the prepubescent female.

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Past history Especially of ano-genital symptoms Behavioral changes

Perianal exam Position Degree of relaxation

Vagina Visualized Not visualized Ridges Rugae Discharge

Perianal area Pigmentation Erythema Venous congestion Anal wink/reflex Paradoxic relaxation/dilatation (timing, measurements) Presence of stool Fissures Skin tags Lacerations Sphincter folds Sphincter tone

cases of acute anorectal injury in order to assess for internal rectal tears, pelvic tenderness, and sphincter tone and for bimanual palpation. When there is evidence of forceful penetration (marked bruising or lacerations) or if perineal findings suggest possible internal extension of other injuries, thereby necessitating an examination under anesthesia, the rectal examination should be deferred and performed in the operating room with the patient heavily sedated but not yet fully anesthetized. This is important because complete sphincter relaxation and anal dilation occur with full anesthesia.

Physical Findings The changes in appearance of the female genitalia with age are described in Chapter 18. Practitioners must become familiar with the normal anatomy at different ages and with normal variations. Extensive, carefully done studies (McCann, Berenson) have documented in detail numerous normal variants, some of which have been mistaken for abnormal findings in the past (see the section Differential Diagnosis of Sexual Abuse, later). One example is apparent enlargement of the

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hymenal orifice. Although once thought significant, it is now known that the appearance of increased transverse diameter, in the absence of other abnormal findings, should not be used in isolation as evidence for sexual abuse. Also, for unknown reasons, obese children may have an increased anteroposterior hymenal diameter, the significance of which is unclear. Thanks to the work of McCann, Berenson, and colleagues, we now have a much better understanding of what is normal and what is abnormal. Perineal Abnormalities Abnormal and Suspicious Findings in Cases of Sexual Abuse As noted earlier, findings on examination in victims of molestation or incest are totally normal in up to 96% of cases. In the remainder, abnormal or suspicious findings can be detected with careful examination. Little remaining hymenal tissue, less than 1 mm, may be suspicious for sexual abuse (see Fig. 6-91) as is deep notching of the rim through greater than 50% of hymenal width, especially when located between the 3 and 9 o’clock positions (see Fig. 6-91, A-C), which also may be seen as a result of prior sexual abuse. In addition, we have observed lichenification of the labial skin of the medial surfaces of the labia majora and marked thickening of labial adhesions due to chronic abrasive action (see Fig. 6-91, D; and see Fig. 18-26). It should be noted

that acute perineal injuries often heal quickly and, at times, completely with no residual scarring. Hence patients who have incurred injuries in the past may have no abnormal findings. Acute Traumatic Findings of Sexual Assault and Sexual Abuse It is important to recognize that victims of sexual assault who present acutely may show evidence of physical trauma other than genital injuries. Bruises and abrasions of the head, face, neck, chest, abdomen, forearms, knees, and thighs are common (see Fig. 6-4). On occasion, even more severe nongenital injuries are encountered. Genital and perianal examination may reveal contusions, erythema, abrasions, or lacerations (Fig. 6-92; see also Figs. 18-16 to 18-21). Perineal lesions due to sexual abuse tend to be located in the posterior portion of the introitus, as opposed to those caused by straddle injury, which are usually more anterior, are often unilateral, and rarely involve the hymen in isolation (see Fig. 6-103; and see Figs. 18-16, A and B, and 18-18). Erythema is a common but totally nonspecific finding that may be significant within the context of a specific history. However, it is more likely to be a normal finding or one resulting from nonsexual irritation or scratching (see Chapter 18) and should not be interpreted as specific for abuse when it is the sole finding.

Figure 6-91  Abnormal findings as a result of prior sexual abuse. A, The hymen is almost completely absent, and the portion remaining has slightly thickened, rolled margins. A subtle bump exists at 7 o’clock, and a notch at 5 o’clock. B, This hymen has a posterior notch deeper than 50% of the rim, which persists in the knee–chest position (not shown here). C, Scarring, edema, and fresh excoriations of the perineal body extending to the anterior anal rim are seen in this child who was repetitively abused. D, The adhesed labia minora in another child are markedly thickened secondary to chronic frictional trauma incurred during sexual abuse. (C, Courtesy Pat Bruno, MD, Sunbury, Pa; D, courtesy John McCann, MD, University of California at Davis, Davis, Calif.)

A

B

C

D

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A

C

B

D

F

E

G

Figure 6-92  Acute traumatic findings seen in victims of sexual abuse and assault. A, Abrasions, contusions, and punctate tears of the perineum and perianal areas can be seen in this prepubescent girl. B, In this 21-month-old infant, raped by her mother’s paramour, erythema and edema of the entire hymen are evident, along with bruising of its inferior aspect and of the posterior fourchette. A laceration is present at 5 o’clock. C, Severe genital trauma in a prepubescent girl after rape. Inspection reveals a hymenal tear at 6 o’clock, extending posteriorly through the perineal body to the rectum. With the patient under anesthesia, a 1-inch (2.5-cm) vaginal tear was discovered, along with a rectal tear and complete disruption of the external anal sphincter. D, Acute bruising of the glans is seen in this baby, who also had a femur fracture. E, In this older boy, penile and scrotal bruising are evident along with multiple small bruises over the lower abdomen. F, Perianal lacerations, abrasions, and burns are apparent in this prepubescent boy. The examiner suspected that the burns were inflicted to obscure the evidence of sodomy. G, Prominent, perianal ecchymoses were found in this 3-year-old boy who had been sodomized. (C, Courtesy Kamthorn Sukarochana, MD; D and E, courtesy Janet Squires, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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Figure 6-93  Microscopic appearance of seminal fluid removed from a young rape victim. If a vaginal discharge is found in a patient presenting within 24 hours of sexual abuse, a wet mount may reveal sperm. A portion of the discharge should also be collected for acid phosphatase, blood grouping, and enzyme studies.

At times, evidence of seminal products in the form of a vaginal discharge may be observed if the patient is seen within 24 hours of the latest incident and has not bathed in the interim (Fig. 6-93). Seminal fluid has been reported to fluoresce under Wood’s lamp, but in our tests we have found only weak fluorescence when fluid has been wet and none when dry. Urine may also fluoresce, although it is reported to fluoresce differently from semen. The BlueMaxx 500 is reported to be the most accurate forensic ultraviolet light for detecting semen on clothing. Under normal light, dried seminal products are practically invisible, but the naked eye may not be significantly inferior to use of the Wood’s lamp. If a history of ejaculation is obtained and the area has not been washed, swabbing the perineum and inner thighs with saline-moistened cotton swabs may yield a sample of dried seminal fluid that can be identified by the crime laboratory. Swabs should be air-dried after the collection process. Clinicians should note, however, that seminal products are rarely found in the

A

B

prepubertal child, in part because disclosure tends to occur long after the event. In some cases, when labial separation or traction is performed with the victim in the supine or semisupine frog-leg or lithotomy position, findings can be obscured by redundant hymenal tissue that has folded over on itself. Hence when suspected abuse victims appear to have posterior hymenal narrowing in a supine position, an assessment in the knee– chest position is indicated. If the posterior portion of the hymen was indeed folded over when supine, it will tend to unfold because of gravity in the knee–chest position, revealing the true hymenal edge (see Fig. 6-87). Application of a few drops of saline can assist this. Examination with the child in the knee–chest position, with its superior visualization, also assists recognition of normal findings (Fig. 6-94). Male victims may have evidence of urethral discharge and mild abrasions and contusions of the penis, scrotum, or median raphe (see Fig. 6-92, D and E). Oral Abnormalities Although most children forced to perform oral sex have no physical findings, forceful orogenital contact may result in perioral and intraoral injuries. These may include fissuring or tears at the corner of the mouth, as well as gingival and palatal contusions. Rarely, forceful oral penetration and thrusting can cause lacerations of posterior pharyngeal tissues, with potential complications of subcutaneous air dissection and abscess formation. Whereas oral lesions are unusual, asymptomatic gonococcal infection of the pharynx is relatively common. Anal and Perianal Abnormalities Patients who have been repetitively sodomized may have normal findings or may manifest paradoxical anal sphincter relaxation in response to gluteal stroking done to assess for an anal wink reflex. They also may exhibit immediate dilation of the anal sphincter to greater than 2 cm when placed in the knee–chest position. If the latter phenomenon is seen in the absence of stool in the rectal vault, the findings have been considered suspicious, although there is some debate about this. The presence of tears in the perianal area and fissures is

C

Figure 6-94  The superiority of visualization using the knee–chest position is demonstrated in this sexual abuse victim, whose redundant tissue made it difficult to see the true configuration of her hymen when she was supine with labial separation (A) or labial traction (B). C, In the knee-chest position, narrowing and thickening of the hymenal rim can be seen more clearly. (Courtesy Dr. John McCann, University of California at Davis.)

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also suspicious. However, fissures are not specific to sexual abuse, as they are seen frequently in children with chronic or recurrent constipation, whereas tears that extend beyond the hair follicle–bearing areas are thought to be more characteristic of abuse. Burns may be inflicted in an attempt to obscure injuries resulting from sodomy. Hence evidence of perianal burns may be suggestive of abuse, as is perianal bruising (see Fig. 6-92). Thickening and irregularity of the rectal folds may be suspicious (see Fig. 6-92); however, wedge-shaped smooth areas in the midline and skin tags are commonly seen without abuse (see Figs. 6-106, A and 6-107). The observation of venous congestion after the child has been in the knee–chest position for a few minutes is a normal finding. Evidence of Sexually Transmitted Disease The presence of sexually transmitted diseases in the prepubescent child is strongly suggestive of sexual abuse, except when other modes of transmission can be documented, or are known to be common, as in the case of genital warts in patients less than 2 years of age. In fact, some victims are identified on presenting with a vaginal or urethral discharge that is positive for a sexually transmitted pathogen. In females, this is usually manifest as vulvovaginitis with a vaginal discharge, with Neisseria gonorrhoeae and Chlamydia

B

A

Figure 6-95  Condylomata acuminata. A, Although human papillomavirus infection is not specific for abuse and is perhaps more commonly transmitted nonsexually, when condylomata are restricted to the hymen, as seen in this child, sexual abuse is the likely source. In this case the victim reported that the perpetrator had visible genital warts. B, Coalescent and discrete condylomata are seen in the perianal area of this 4-year-old boy with a history of being sodomized. C, More extensive lesions involving the mons, the introitus, the labia, and perianal area developed in another child. (C, Courtesy Robin Gehris, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

C

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trachomatis the most commonly identified pathogens (see Chapter 18 and Fig. 18-41). Although asymptomatic vulvovaginal infection is quite unusual before puberty, oral and rectal gonococcal infections are typically subclinical. Males may have overt urethritis or asymptomatic urethral infection. Girls presenting with a history of vaginal discharge should also be tested for sexually transmitted diseases. Gonococcal vulvovaginal, urethral, oral, and rectal infections are almost always acquired through sexual contact, as are vulvovaginal Chlamydia infection in the child older than 2 to 3 years (see later discussion) and Trichomonas infection in the peripubescent child. Development of condylomata acuminata caused by human papillomavirus (HPV) during infancy can be due to transmission from the mother during delivery. Because the latency period can be as long as 9 to 12 months, lesions having their onset in the first year cannot be considered as likely due to abuse. When lesions appear thereafter they are suspicious, although not diagnostic, for abuse (Fig. 6-95) as it is now thought that many of these cases are the result of nonsexual transmission from warts on the hand of a parent or caretaker of a child who still needs assistance with toileting. However, when the warts are restricted to the hymen in a prepubertal child, sexual abuse is the likely source. When human

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papillomavirus is strongly suspected but no lesions are visible, application of a 3% to 5% solution of acetic acid for 3 to 5 minutes will impart an “aceto-white” appearance to any lesions present. In the very young child, genital herpes infections may be acquired through sexual contact but are more often the result of spread from oral or hand lesions from the patient, or from a parent with a cold sore, as a result of poor attention to hand washing (see Fig. 18-38, A). In the latency-aged child, however, sexual contact is the more likely source. Nonspecific vaginal discharges that are culture-negative for sexually transmitted, respiratory, and enteric pathogens, especially if chronic or recurrent, are also suspect, and testing for seminal fluid should be considered. Nonsexual transmission of gonococci, Chlamydia, Trichomonas, and human papillomavirus occurs primarily during vaginal delivery. Gonococcal infections tend to produce symptoms early in the neonatal period. Perinatally acquired Trichomonas infection causes a copious vaginal discharge in the neonate, which abates even without treatment, although the organism can persist for months. In contrast, Chlamydia infection acquired neonatally may persist for 18 months to 3 years. Hence finding this organism in the very young child cannot be considered diagnostic of sexual abuse. As noted earlier, because of its prolonged incubation period, the human papillomavirus acquired during delivery may not produce lesions until several months later. Last, it must be noted that in some instances children acquire sexually transmitted diseases as the result of sexual contact with other infected children. In such cases aggressive case finding can result in identification of the index child, who is highly likely to be a victim of sexual abuse.

Specimen Collection Laboratory studies are designed to augment the physical assessment of injury, identify sexually transmitted pathogens, and document the presence or absence of seminal fluid. Data confirm clinical experience that the yield for evidence of ejaculate on the body of a prepubertal patient presenting more than 24 hours after the abuse is extremely low. Hence studies to detect semen may be omitted if the patient seeks attention later than this. However, it is particularly important to collect articles of unlaundered clothing and bed linens that may have evidence of ejaculate on them because semen may be retrieved from these items even 12 months (or more) later. Unfortunately, this is often overlooked in the process of evidence collection in sexual abuse cases. Because the yield of positive results from vaginal cultures obtained from asymptomatic prepubertal victims is so low, the collection of specimens sometimes uncomfortable, and the cost high, many centers are advocating a more selective approach in obtaining cultures in this age group on the basis of the level of risk. However, oral and rectal cultures should be strongly considered because oral and rectal gonococcal infections are typically asymptomatic, and nucleic acid amplification tests (NAATs) are not recommended. In the prepubescent child with vaginal discharge, all cultures, except for Chlamydia, may be obtained from discharge present on the perineum. It is important not to confuse smegma with discharge (Fig. 18-22). Chlamydia cultures necessitate swabbing the vaginal wall. Note that when NAATs are done in cases of sexual abuse a second laboratory-based confirmatory test is required. Although cultures are still recommended there is increasing evidence that the newer NAATs are both more sensitive and specific than cultures, especially in a low-incidence population (check for updated guidelines at the Centers for Disease Control and Prevention website http://

www.cdc.gov/std/treatment/2010/sexual-assault.htm#a2). This requires great care in specimen collection because the hymen, before puberty and estrogenization, is extremely sensitive, and touching it with a swab induces a significant amount of pain in most patients. Saline-moistened calcium alginate swabs on thin metal wires are the easiest to insert atraumatically. As the knee–chest position produces maximal hymenal opening, this is the optimal position for vaginal specimen collection, if the child will tolerate it. Testing should be considered in the adolescent, regardless of time of presentation or of the presence or absence of symptoms, because sexually transmitted diseases (STDs) may be asymptomatic in postpubertal girls, and may have been acquired earlier as a result of consensual sexual activity. Cervical cultures for gonorrhea and Chlamydia infection in addition to cultures of the vaginal pool are indicated. The possibility of pregnancy must also be considered in all such patients, and a pregnancy test must be performed. In obtaining rectal specimens for gonorrhea and Chlamydia cultures, the swab should be inserted no more than 1 to 2 cm to avoid fecal contamination, which interferes with culture results. There has been much debate about what STD testing is appropriate and legally acceptable in cases of child sexual abuse. There are data showing that certain nucleic acid amplification tests are both more sensitive and more specific than culture for both Chlamydia and gonorrhea from certain sites. For the latest recommendations please check http://www.cdc.gov/std/LabGuidelines/rr5115.pdf. Patients with evidence of trauma need urinalysis and rectal examination to check for evidence of bleeding and may require sonography or CT if physical findings are suggestive of internal extension of injury. However, if anal rape is reported or if anal inspection suggests evidence of forceful anal penetration with marked bruising or lacerations, especially in a prepubertal child who has clearly been traumatized emotionally and physically, rectal examination should be deferred until the patient is sedated before full anesthetic administration in the operating room. Loss of sphincter tone and anal dilation occur normally when a child is fully anesthetized and should not be mistaken for abnormal findings. Prepubescent girls with evidence of vaginal bleeding or a vaginal hematoma must have an internal examination performed under anesthesia to check for internal extension of injury. In such instances, specimen collection is deferred until that time. Table 6-9 presents guidelines for specimen collection in sexual abuse cases, and Table 6-10 enumerates the additional specimens required by law enforcement authorities in rape cases. Note that, given the extremely low yield in prepubertal children presenting after 24 hours, a full rape kit is not indicated in such situations. Because the examination is for the purpose of gathering forensic evidence, in addition to assessing the patient’s physical status, procedure must be meticulous. Each specimen for the crime laboratory should be packaged and labeled immediately on collection. All evidence should then be kept together and must remain under the direct supervision of the physician or nurse who was present at the time of collection until it is signed over to hospital security or law enforcement. Last, police should sign a receipt for release of evidence on accepting the specimens. Commercially available rape assessment kits greatly assist this process. Failure to adhere to these procedures breaks the chain of evidence and invalidates its use in legal proceedings. If the assault or rape has been perpetrated by a stranger (e.g., not a caretaker), the patient or parent usually must sign a consent form before collection of evidence.

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Table 6-9

245

Documentation Required in Sexual Abuse Evaluation: Guidelines for Specimen Collection in Sexual Abuse Examination GENITAL CONTACT

Orogenital Contact

No Evidence of Penetration

Evidence Consistent with Vaginal Penetration

Anal Contact

1. Swabs: use two at a time* a. For wet mount for sperm† b. For two air-dried slides† c. For GC culture d. Consider Chlamydia culture if patient older than 3 yr 2. Consider baseline RPR (repeat in 4-6 wk if initial test result is negative)§ 3. Consider HIV testing with repeat test in 3-6 mo§

1. Urinalysis for occult blood 2. Vaginal swabs or aspirate*‡ a. For wet mount for sperm,† Trichomonas, and Candida b. For two air-dried slides† c. For GC and routine culture‡ d. For Chlamydia culture if patient older than 3 yr‡ e. For Gram stain if vaginal discharge is present‡ 3. Consider baseline RPR (repeat in 4-6 wk if initial result is negative)§ 4. Consider HIV testing with repeat test in 3-6 mo§

1. Urinalysis for occult blood 2. If vaginal bleeding or hematoma seen in prepubertal child: a. Consult pediatric surgeon or gynecologist for possible EUA b. If EUA done, collect specimens, then: 3. Vaginal swabs or aspirate*‡ a. For wet mount for sperm,† Trichomonas, and Candida b. For two air-dried slides† c. For GC and routine cultures‡ d. For Chlamydia culture if patient older than 3 yr‡ e. For Gram stain if vaginal discharge present‡ 4. Consider RPR (repeat in 4-6 wk if initial result is negative)§ 5. Consider HIV testing with repeat test in 3-6 mo§

1. If marked bruising or external tears seen: a. Consult pediatric surgeon or gynecologist for possible EUA b. If EUA done, collect specimens, then: 2. Swabs: Use two at a time and insert no more than 1 cm* (must be done before rectal examination) a. For wet mount for sperm† b. For two air-dried slides† c. For GC and routine cultures d. For Chlamydia culture if patient older than 3 yr 3. If no major bruising or tears: a. Rectal examination b. Stool test for blood: if positive, consult general surgeon 4. Consider baseline RPR (repeat in 4-6 wk if initial result is negative)§ 5. Consider HIV testing with repeat test in 3-6 mo§

*Two of the swabs used to obtain specimens should be air-dried and placed in a sterile test tube for acid phosphatase, blood group, DNA, and enzyme studies. When specimens are obtained by vaginal aspirate, a small amount of aspirate should be applied to two swabs, which should then be processed in the same manner. † Omit if seen more than 24 hours after the last incident, except in patients with vaginal discharge. ‡ In postpubescent patients, cervical swabs must be obtained for GC and Chlamydia cultures and for Gram stain. § These studies are indicated in cases of abuse by an unknown stranger or by a perpetrator known to be at high risk for these diseases (intravenous drug user), especially in areas where these diseases are endemic. Note: Follow-up in 2-4 weeks is recommended, with additional specimen collection as needed. EUA, examination under anesthesia; GC, gonococcal; RPR, rapid plasma reagin test.

Table 6-10

Additional Specimens Needed in Rape Cases (Seen within 72 Hours*)

SPECIMENS MAY BE OBTAINED BY THE PHYSICIAN OR NURSE. ALL CONTAINERS USED IN EVIDENCE COLLECTION SHOULD BE PAPER AND MUST BE LABELED WITH: Patient’s name Body site Initials of collector Type of specimen Date and time Clothing If the patient is wearing the same clothes, they should be collected along with any debris because this may provide valuable clues regarding the assailant. The patient should disrobe while standing on a towel or sheet. Each article including the towel or sheet should then be placed in a separate paper bag. Avoid shaking the articles. Each bag is then labeled and sealed. Fingernail scrapings† These may provide bits of skin, fiber, and debris from the assailant. Scrapings from beneath the nails or nail clippings should be obtained. Specimens from each hand should be collected over separate sheets of paper and placed in separate paper envelopes, sealed, and labeled. Hair samples† Any loose or suspected foreign hairs should be collected, placed in an envelope, and labeled. If patient is postpubescent, comb pubic hairs onto a sheet of clean paper, fold, place in an envelope with the comb, label “combed pubic hair,” and seal. Then, gently pull pubic hairs from the patient (12 hairs are needed), place on clean paper, fold, put in envelope, label “standard pubic hair,” and seal. Then, comb and pull head hairs in this same manner. Blood sample Five milliliters of blood should be drawn for blood grouping and enzyme typing and placed in a purple-top tube. Saliva sample This enables testing of the patient’s secretory status. The specimen should be obtained either by wiping the patient’s oral mucosa with a gauze pad or by having the patient expectorate onto a gauze pad. The pad is then placed in an envelope, sealed, and labeled. Destination of Specimens The following specimens are handled by the hospital laboratories or performed in the emergency department: Urinalysis Gram stains RPR Wet preps Stool test for blood Cultures All other specimens are to be signed over to police custody for transport to the crime laboratory Maintaining an Unbroken Chain of Evidence Evidence should be packaged and labeled on collection. All evidence should be kept together and must remain under the direct supervision of the collecting physician or nurse until signed over to hospital security or the police. Receipt for release of evidence to law enforcement should be signed before evidence is given over to security or the police. *The yield is very low after 24 hours and almost zero if the child is prepubertal. † Omit if patient has already bathed and shampooed. RPR, rapid plasma reagin (test).

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Differential Diagnosis of Sexual Abuse Not only is there a wide range of nonabusive causes of the physical and behavioral symptoms that serve as presenting complaints of many sexual abuse victims, but also physical findings, when present, are also variable and often nonspecific and many have a variety of other potential causes. Furthermore, as a result of McCann’s pioneering work, the wide range of normal anatomic variations is being increasingly appreciated. Normal Anatomic Variations A wide variation in normal hymenal configuration and shape of orifice exists (Fig. 6-96; see also Figs. 18-3 and 18-7), as well as some amount of variation in diameter that must be appreciated by the examining physician (see Fig. 18-3). Several normal anatomic variants are now recognized as well. Septal remnants (Fig. 6-97), seen as tags near the midline on either

the anterior or posterior portion of the hymenal membrane (see Chapter 18), and even anterolateral hymenal flaps (Fig. 6-98) are normal findings, as are periurethral bands. These and intravaginal ridges (Fig. 6-99) were once erroneously thought to be the result of scarring. Thin labial adhesions are a common finding in normal children as well (Fig. 6-100; and see Fig. 18-12). Vulvar Erythema and Inflammation Erythema of the vaginal vestibule is common in asymptomatic, nonabused, prepubescent girls. It can also be seen in abuse victims and in children with irritant and other forms of vulvovaginitis (see Figs. 18-24, 18-25, 18-31, 18-38, and Table 18-4). Vulvovaginitis has a wide variety of causes, many of which are noninfectious, including chemical irritation, poor perineal hygiene or aeration, nonabusive frictional trauma, contact dermatitis, or itching and scratching due to pinworms

Figure 6-96  Variations in normal hymenal configuration. A, A redundant hymen. B, A crescentic hymen with thin smooth edges. C, A somewhat redundant hymen with an annular orifice. D, A septate hymen resulting from failure of lysis of the embryonic hymenal septum.

A

B

C

D



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Figure 6-97  Septal remnant. This skin tag at the 6 o’clock position is a remnant of the vaginal septum present earlier in fetal development and constitutes a normal finding seen in about 5% of girls.

Figure 6-98  Hymenal flap. This child has a redundant hymen with an everted anterolateral flap, another normal variant.

or other sources of irritation. These conditions may be associated with nonspecific erythema, maceration, or superficial abrasions/excoriations (see Figs. 18-22, 18-24, and 18-25). Many infectious cases are caused by respiratory or gastrointestinal pathogens (the former transmitted from nose or throat by the child’s hands, the latter often due to perineal contact with infected stool) or are seen concurrently with urinary tract infections (see Chapter 18). Thus vulvovaginitis resulting from sexually transmitted disease probably constitutes a minority of vulvovaginal complaints in prepubescent children. To avoid misdiagnosis of abuse, it is wise to defer diagnosis until definitive culture results are obtained.

Urethral Prolapse The clinical findings of urethral prolapse (Fig. 6-101) have been mistakenly attributed to sexual abuse because the purplish-red prolapsed mucosal tissue that protrudes between the labia minora bleeds easily and often overlies the vaginal orifice, simulating edematous, traumatized, redundant hymenal folds. The condition is often first discovered when blood or a serosanguineous discharge is found on the diaper or underwear, because associated dysuria is unusual and urination is not impeded. With magnification, the urethral orifice can be seen at the center of the mass, which is soft and markedly tender to touch. After application of topical anesthetic,

Figure 6-99  Intravaginal ridges. The bands of tissue along the vaginal walls that appear here to extend medially and downward from the 11 and 2 o’clock positions are normal features of the vaginal walls; in the past they were erroneously thought to be the result of scarring. (Courtesy John McCann, MD, University of California at Davis, Davis, Calif.)

Figure 6-100  Labial adhesions. The labia minora are fused in the midline as a consequence of prior inflammation. They are separated by a thin lucent line, and the epithelium of the labia is normal.

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inflammation, hypopigmentation may be partially obscured by erythema and areas of superficial ulceration that bleed easily (Fig. 6-102; and see Fig. 18-29 and accompanying text). Its cause remains unknown. Accidental Trauma As noted earlier, trauma inflicted in the course of attempted or actual sexual penetration generally results in contusions and tears of the posterior portion of the hymen and introitus. In contrast, straddle injuries produce lesions of the anterior and anterolateral portions because these are tissues most likely to be crushed between the pubic ramus and the object on which the child falls. Findings include contusions, abrasions, and superficial lacerations, the latter being frequently found at the junction of the labia majora and minora (Fig. 6-103; and see Fig. 18-16).

Figure 6-101  Urethral prolapse. This child was referred for evaluation for possible sexual abuse when blood was noted on her underwear, and “traumatized tissue” was seen on examination. On close inspection, this was found to be edematous, friable prolapsed urethral mucosa.

the prolapse can be lifted, revealing the hymen underneath. The condition is unusual and tends to occur only in children younger than 12 years of age; two thirds of affected girls are African American. The cause is unknown, although many affected girls have a history of constipation. Lichen Sclerosus Lichen sclerosus et atrophicus has often been mistakenly attributed to sexual abuse. The involved perineal skin is paper-thin and tends to be hypopigmented. During periods of acute

Vaginal Foreign Bodies The presence of foreign objects within the vaginal canal sometimes precipitates an inflammatory response with production of a copious brown, sometimes blood-tinged, discharge with a foul odor. The discharge and its odor generally prompt presentation. Foreign bodies may or may not suggest abuse. Whereas finding firm objects within the vagina and witnessing a child stroking herself with crayons or similar objects and then inserting them are suspicious for prior sexual abuse, the not uncommon finding of a small wad of toilet tissue lodged within the vagina is more likely an inadvertent consequence of vigorous wiping (Fig. 6-104). Midline Defects Perineal midline fusion defects are an unusual phenomenon in which a small portion of the median raphe adjacent to the anus fails to fuse in utero. The anomaly, seen only in female infants, is present at birth and may be located anteriorly or posteriorly to the anus. When the unfused edges of the median raphe are spread apart they reveal an underlying pink or reddish mucosal-like surface (Fig. 6-105). The defect often goes unnoticed until days or weeks after delivery during a diaper change, bathing, or a well-child care visit. When first detected by a parent or physician unfamiliar with the problem,

Figure 6-102  Lichen sclerosus et atrophicus. A, Multiple small points of bleeding dot the atrophic mucosa in this child. B, In another girl, acute inflammation has largely subsided, leaving an hourglass pattern of hypopigmentation extending from the mons to below the anal folds. (B, Courtesy Robin Gehris, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

A

B

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Figure 6-103  Accidental trauma caused by a straddle injury. A, This child with a straddle injury was brought in immediately for care because of slight bleeding. Superficial abrasions and contusions extend from the anterior portion of the labia minora to the posterior fourchette. Note that the lesions are largely unilateral. B, Another child complained of dysuria and was noted to have a small amount of blood on her underwear after a straddle injury. The superficial laceration between the hymen and labia minora was barely visible in regular light but was brought out by viewing it through a green filter.

A

findings may be mistaken for a laceration due to sexual abuse. Medical recognition of the true nature of the abnormality is enhanced by knowledge of its existence, and by the fact that the edges of the outer layer of tissue and of the underlying “mucosal” surface are smooth and intact. Other features that help distinguish midline defects from abuse-related injury are the absence of associated introital and anal abnormalities and of bleeding. Normal Anal and Perianal Variants Anal fissures and perianal skin tags (Fig. 6-106) are common sequelae of constipation. The fissures caused by the passage of hard or large-caliber stools are superficial and usually do not extend beyond the perianal skin bearing hair follicles, whereas tears produced by sodomy usually exceed this limit. Infantile perianal pyramidal protrusion consists of a single benign papule with a pyramidal shape located in the midline of the perineal raphe, usually just anterior to the anus (occasionally just posterior). It is smooth, soft, pink, and totally asymptomatic (Fig. 6-107). The protrusion is either present at birth or noted shortly thereafter, and there is no association

B

with antecedent fissures or fistulas. The “lesion” usually resolves spontaneously over weeks to months. Exact etiology is as yet unclear, although an association with lichen sclerosus et atrophicus has been noted. Spontaneous anal sphincter relaxation occurring 30 seconds to 3 or 4 minutes after adopting the knee–chest position is normal. Immediate sphincter dilation when there is stool present in the rectal vault is also considered normal, as is anal dilation in the fully anesthetized child. However, reproducible immediate sphincter dilation to greater than 2 cm on adopting the knee–chest position is considered to be suspicious for repetitive prior anal penetration. Perianal erythema, hyperpigmentation, and venous engorgement are other common findings seen in normal children.

PASSIVE ABUSE OR NEGLECT Passive abuse or neglect is by far the most commonly reported type of child abuse, accounting for more than 50% of cases each year. In its mildest form, this may consist of a pattern of lack of vigilance and safeguarding of young children, who are

Figure 6-104  Vaginal foreign body. A, A white object is noted within the vagina on perineal inspection. B, This was better visualized by labial traction. Toilet paper had become enlodged in the process of wiping after toileting.

A

B

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from caring for a doll. Once the demands are evident, they may become disenchanted and lose interest. Disinterest may be manifested by bottle propping; talking on the phone during feedings; leaving the baby in a crib much of the time; leaving the baby home alone; or frequently dropping the baby off with relatives, friends, acquaintances, or neighbors (often with dubious child care skills) so that they can go out when they want. A challenging subset of adolescent mothers are those who are pseudo-independent with “attitude.” Despite limited knowledge and experience, these girls are convinced they know all they need to know about caring for their baby and are resistant to and often suspicious of suggestions, advice, and offers of help. Economic situation and lack of education also play a role. Poverty with its stresses and pressures, its association with Figure 6-105  Perineal midline fusion defect. This toddler was referred for concern of sexual abuse when this defect was noticed by her new foster mother during a diaper change. The unfused edges of the median raphe are spread apart to reveal an underlying mucosal-like surface. Both are smooth and intact with no evidence of inflammation or bleeding. Note that she has another congenital anomaly, an anteriorly displaced anus. A normal redundant hymen is also seen. (Courtesy Carol Byers, CRNP, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

thereby at greater risk for accidents and ingestions. This may include leaving them unattended for long periods, placing them in a hazardous environment, or leaving an older child in charge who is too young and/or unprepared to take on responsibility for the care of younger siblings. In its most severe form, the patient presents with severe growth failure and developmental delay as a result of inadequate provision of calories and minimal or ineffective nurturing. Typically, in severe cases, the patient has been fed irregularly, offered insufficient volumes of formula and food, given little interactional attention, and received minimal basic care. In some cases it appears that an infant may have picked up on maternal anxiety and/or depression and developed secondary anorexia and autonomic disturbances of intestinal motility. Some affected infants actually begin to resist contact and become difficult to feed. In addition, as malnutrition worsens, babies tend to become listless and irritable, making care more difficult and less rewarding. Furthermore, secondary malabsorption worsens nutrient utilization. Risk factors are similar to those seen in cases of active physical abuse, with a few additions. More of these infants were unplanned and unwanted. Often little or no prenatal care was sought. In numerous cases there is a history of the father having abandoned the mother after learning of the pregnancy. Mothers of these babies are more likely to be frankly depressed or cognitively limited and to have had difficulty caring for the children they already have. In some cases the mother appears to have been coping reasonably well with the children she’d already had, but this last baby has proved one too many. The incidence of maternal drug abuse as a predisposing factor has increased substantially over the past few decades. Infants born to a teenage mother have twice the risk of suffering neglect as those born to older women, often because of the deprivation of nurturing, love, attention, and affection they suffered themselves as infants and children. As a consequence, these young women are emotionally needy yet have difficulty with attachment and bonding, not only to their infants but also to friends and family who might be of support. Further, they have neither the emotional wherewithal nor the experience necessary to nurture their offspring. Some fantasize that the unconditional love of a child will meet their unmet needs for love. Often emotionally immature and selffocused, the teenage mothers may have little concept of what is involved in caring for a child, thinking it not much different

A

B Figure 6-106  A, Perianal skin tag. This is a common finding, particularly in children with a history of constipation and prior problems with anal fissures. B, Venous congestion noted in the perianal area. This can occur after a few minutes in either the knee–chest or lithotomy positions and is a normal finding.



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good eye contact and tend to put him or her down immediately afterward. A high percentage of these infants have received little or no professional well-child care and are behind on their immunizations. On examination, the infant or child with psychosocial failure to thrive is usually found to be significantly undergrown. Weight may be below the third percentile, or there may be evidence of plateauing of weight gain. In long-standing cases, height and head circumference are abnormally low as well. Comparison with birth parameters and measurements made at prior visits (if any) reveal that the child has “fallen off the growth curve” (Fig. 6-108). In the more severe case the child presents with decreased subcutaneous tissue (most notably over the buttocks, thighs, and upper arms); a pinched face; and sunken prominent eyes. In some there are frank physical findings of multiple vitamin deficiencies, which include a nonspecific or seborrhea-like dermatitis that can progress to skin breakdown, cheilosis, glossitis and stomatitis, and erythema and thinning of the skin over the palms and soles (Fig. 6-109, A-E). Affected infants tend to look serious, smile infrequently, appear apathetic and withdrawn when left alone, and often lie on their backs with their arms up beside their heads. They show more interest in inanimate objects than in people, and although they appear vigilant toward people at a distance, they Figure 6-107  Infantile perianal pyramidal protrusion. This smooth, soft, pink papule, located in the midline just anterior to the anus, has a pyramidal shape. It was noted by the mother shortly after birth and was totally asymptomatic.

poor housing conditions (nonfunctioning appliances, poor sanitary conditions, and general disrepair); lack of utilities because of unpaid bills; or homelessness is another common thread. This is further complicated by social isolation, lack of transportation, and mental health problems that can interfere with a mother’s ability to mobilize herself to sign up for food stamps and the Women, Infants, and Children program (Food and Nutrition Service, U.S. Department of Agriculture) to which she is entitled. Limitations in knowledge and understanding of the importance of nutrition and children’s needs are also common and, when combined with ill-informed dietary beliefs (juice is as good as formula because the Women, Infants, and Children program gives it out) or fears (regarding obesity, cholesterol or animal products [vegans], and milk/food allergy), contribute to inappropriate feeding practices. Major infant risk factors are prematurity; being born small for gestational age; being the last of a large sibship or the latest of three or four born in rapid succession; being passive and undemanding; or being perceived as difficult.

Psychosocial Failure to Thrive On presentation, the mother of an infant with psychosocial failure to thrive often appears relatively unconcerned about her baby’s state of nutrition, even when this has reached the point of emaciation. When asked about it, she may report not having noticed it or may state that all her babies are small. Typically, she has brought the child for treatment of a minor unrelated problem, such as a cold, rash, vomiting, or constipation. Some present with a history of colic, crying “all the time,” or a feeding problem. In many cases there are glaring inconsistencies in the feeding history (e.g., “he takes 6 ounces every 4 hours,” yet “he takes 16 ounces in 24 hours”). Many mothers readily acknowledge that they often do not hold the baby for feedings but instead prop the bottle on a towel or against the side of the crib. When observed, even when they do hold the infant during a feeding, they often do not make

Figure 6-108  Growth chart of a child with psychosocial failure to thrive. This boy’s growth was normal until he was 15 months of age, when his mother became addicted to crack. His weight gain slowed between 15 and 19 months, after which he showed a precipitous weight loss and slowing of height growth. He showed rapid catch-up growth within a week of removal from the home. (Courtesy Robin Gehris, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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B

A

C

D

E

Figure 6-109  Psychosocial failure to thrive as the result of neglect. A, This 4 12 month-old infant was brought to the emergency department because of congestion. She was found to be below her birth weight and suffering from severe developmental delay. Note the marked loss of subcutaneous tissue manifested by the wrinkled skin folds over her buttocks, shoulders, and upper arms. B, A close-up of her upper arm highlights the wasting and shows the mottling and nonspecific dermatitis commonly seen with malnutrition. C, The dermatitis can progress to skin breakdown, as seen here in the perianal area. D, The baby also had manifestations of multiple vitamin deficiencies including stomatitis; glossitis; and perioral, perinasal, and periorbital dermatitis (seen with riboflavin, niacin, and vitamin B6 deficiencies, respectively), as well as sharply demarcated palmar erythema (E) with thinning of the skin (niacin deficiency). F, Three and a half months after removal from the home, she was well nourished and had caught up developmentally.

F

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A

Figure 6-110  Neglect. A, Another infant with severe failure to thrive has a badly neglected case of irritant diaper dermatitis. B and C, Severely neglected baby-bottle caries were among the findings noted on evaluation of a toddler with failure to thrive. She was examined after her marasmic baby brother was referred by Women, Infants, and Children personnel. Their mother was suffering from immobilizing depression. In B, one can see that the upper teeth are markedly discolored by decay and have eroded down to the gingiva. In C, note the abscesses over the upper left gingiva.

tend to become upset when someone approaches and avoid making eye contact. They often object to being touched, held, or cuddled. When health care personnel persist in trying to get them to interact, they find they must work hard to get the baby to calm down and sit in their lap; when put back in the crib, the child cries only briefly, if at all. Vocalization is sparse, and development is delayed and uneven, with social milestones being farther behind than motor development. We have seen some who have had abnormal tone, scissoring, and posturing suggestive of a neurologic problem, which promptly abated within a few days of hospitalization. Poor hygiene, dirty clothes, badly neglected diaper rashes, and severe baby-bottle caries are common additional findings suggestive of neglect (Fig. 6-110, A-C). The easiest, least traumatic way to confirm the diagnosis of psychosocial failure to thrive is to remove the infant from its home and observe its growth in a nurturing environment. Infants and children with milder cases will gain weight promptly, whereas marasmic infants may take 1 to 2 weeks before resuming growth (see Fig. 6-109, F). Although pure psychosocial failure to thrive is the most common form of growth failure in infancy, accounting for between 33% and 50% of cases, up to 25% of cases are of purely organic origin; in another 25%, growth failure is due to a combination of organic and psychosocial factors. In the latter instances, affected infants often have suffered prenatal or perinatal insults that have resulted in growth retardation and/or physical conditions that make them difficult to feed and care for.

Organic Causes of Failure to Thrive Of cases of organic failure to thrive, CNS, gastrointestinal, cardiac, genetic, pulmonary, renal, and endocrine disorders account for organically based growth failure, in descending order of frequency. The majority of such disorders can be recognized during physical examination because of the obvious

abnormalities seen. The remainder tend to be revealed by history or can be readily diagnosed on the basis of a few simple screening laboratory tests. Neurologic Disorders Severe cerebral palsy, neuromuscular disorders, encephalopathies, and neurodegenerative diseases are the major CNS problems associated with failure to thrive. Poor suck; problems coordinating sucking and swallowing; and lethargy, irritability, and altered level of consciousness are the more common factors that impede adequate intake in these infants. Some also have excess losses because of vomiting. Neurologic dysfunction may also impair an infant’s ability to provide interactive feedback to the mother. Gastrointestinal Disorders A variety of gastrointestinal problems cause growth failure, and numerous mechanisms are responsible. Oral malformations including cleft lip and palate, severe micrognathia, and macroglossia interfere with sucking and swallowing. Many of these conditions are also associated with chronic or recurrent ear and nasopharyngeal infections. Esophageal and gastric disorders can interfere with growth by causing pain on swallowing, resulting in decreased intake, or by causing repetitive vomiting (abnormal losses), with or without aspiration. These include gastroesophageal reflux (GER), esophageal stricture, stenosis, or atresia; external esophageal compression by abnormal vessels, an enlarged heart, or mass lesions; chalasia; and achalasia. Among these, GER predominates, and it must be remembered that this disorder has varied manifestations. Although vomiting and repetitive spitting are common modes of presentation, they are not uniformly present. Other symptoms include crying after every few swallows during feedings (with or without writhing or arching) and/or feeding refusal due to esophagitis. In some cases snoring, coughing, wheezing, and even apnea are prominent and tend to worsen during sleep or while recumbent (see Chapters 10 and 23).

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With the exception of pyloric stenosis, which can cause failure to thrive due to repeated vomiting when diagnosis is delayed, malabsorption is the major mechanism of growth failure in patients with small or large intestinal disorders and pancreatic disease. These infants may also experience pain associated with eating caused by gas, hyperperistalsis, or inflammation, each of which may also cause anorexia. Further, they typically have a history of excessive stool losses, and stool examination may suggest the underlying cause. Carbohydrate malabsorption is characterized by large, watery stools, which are positive for reducing substances, have a low pH, and are accompanied by considerable gas. Fat malabsorption results in large, bulky, greasy stools, and protein malabsorption in foul-smelling stools. Infants with blind-loop syndromes resulting from webs, bands, or stenoses have large, watery stools as a result of bacterial overgrowth in the gut lumen proximal to the site of partial obstruction. Short-gut syndrome subsequent to surgical resection and parasitic infections with Giardia or Strongyloides organisms are other causes of malabsorption. Impaired bile acid metabolism results in fat malabsorption in infants with severe liver disease. Associated anorexia, malaise, and fatigue further impede intake in these children, and vomiting contributes to caloric losses. It must also be remembered that malnutrition itself causes malabsorption. Infants and toddlers with symptomatic celiac disease or gluten-sensitive enteropathy may present between 6 months and 2 years of age with failure to thrive. In the “textbook case” the child has diarrhea with foul-smelling stools, vomiting, abdominal distention, anorexia, and pallor, and has an irritable, unhappy demeanor. A wide range of symptomatology exists, however. Some patients may only have vomiting and growth retardation, others only short stature, and a majority of affected children are probably asymptomatic. The disorder and its symptoms stem from a genetic susceptibility to intolerance to the gliadin fraction of gluten, which then sets off a T cell–mediated immunologic response. This results in chronic inflammation of the mucosa of the small intestine, impairing its absorption and digestive functions. Because gluten is found in wheat, rye, barley and, to a lesser extent, oats, symptoms cannot develop until the infant or child has been exposed to cereals, breads, or crackers containing these grains for some period of time. Cardiac Disease Severe cardiac disorders including those characterized by chronic congestive heart failure, large shunts, or pulmonary hypertension appear to result in growth failure primarily as a result of dyspnea with feeding and secondarily decreased intake. Slow feeding and a history of diaphoresis with feeding and during sleep are commonly noted. The role of hypoxia and malabsorption (resulting from impaired intestinal lymphatic drainage in children with congestive heart failure) remains unclear. Many of these patients also have recurrent pulmonary infections, and in some, intrauterine growth retardation, congenital infections, and genetic disorders play a role. Genetic Disorders The genetic disorders associated with impaired growth include chromosomal disorders, storage diseases, skeletal disorders and dysplasias, inborn errors of metabolism, idiopathic hypercalcemia, and heritable CNS defects. Nearly all are characterized by obvious physical stigmata. Pulmonary Disease Of the pulmonary disorders associated with failure to thrive, bronchopulmonary dysplasia and persistent viral infections are the two main sources. Dyspnea with feeding and secondarily decreased intake appear to be the major underlying

mechanisms, often compounded by recurrent infection. Cystic fibrosis can be put in this category, but it is malabsorption due to pancreatic enzyme deficiency more than pulmonary dysfunction that appears to affect the growth of these patients. Renal Disease Renal diseases that involve the interstitium and tubular structures are the major nephric sources of growth failure. These include dysplasia, multicystic or polycystic kidney disease, severe hydronephrosis with azotemia, chronic obstructive uropathy, renal tubular acidosis, nephrogenic diabetes insipidus, chronic or recurrent urinary tract infections with severe reflux or other anatomic abnormalities, and chronic renal failure. Inability to concentrate the urine, abnormalities of urinary sediment, and abnormal serum chemistry values are found on screening tests in these patients. Inadequate intake stemming from anorexia and protein restriction, malabsorption, abnormal vitamin D absorption and secondary hyperparathyroidism with renal osteodystrophy, decreased somatomedin levels, and abnormal peripheral use and degradation of insulin may contribute to growth failure in these children. Endocrine Disease Among the endocrine disorders, diabetes mellitus and pituitary, thyroid, and adrenal disorders can all be associated with growth impairment. Urinary losses of glucose, dehydration, and excessive protein catabolism result in weight loss in children with diabetes mellitus. A history of polyuria, polydipsia, or polyphagia and tests for serum and urine glucose readily enable diagnosis. The growth curves of children with isolated growth hormone deficiency and panhypopituitarism level off between 9 and 12 months of age, with height affected more than weight. Such patients appear well nourished for height but often have an elfin physiognomy. Congenital hypothyroidism is characterized by an open posterior fontanelle, umbilical hernia, macroglossia, mottled skin, prolonged physiologic jaundice, and severe constipation. Although height is short and bone age markedly delayed, weight is normal or increased for height. Characteristic physical stigmata assist diagnosis. Congenital hyperthyroidism results in failure to thrive because of poor feeding and frequent loose stools. Affected infants are irritable and hyperactive and have tachypnea, tachycardia, and diaphoresis. The presence of goiter makes this condition obvious. Patients with adrenocortical insufficiency grow poorly because of anorexia, vomiting, and diarrhea, which also predisposes them to dehydration. Basic serum chemistry tests reveal hyponatremia and hyperkalemia. Other Organic Factors In late infancy and early childhood, severe tonsillar and adenoidal hypertrophy with secondary sleep apnea assumes significance as a cause of impaired growth. Difficulty swallowing, whether mechanical (due to mass effect) or secondary due to tonsillopharyngeal pain; immune stress from chronic or recurrent adenotonsillar and middle ear infection; and the effect of sleep interruptions on nocturnal growth hormone secretion are contributing factors. Nursing or baby bottle syndrome secondary to being put to bed with a bottle of milk or juice at night and poor dental hygienic practices (little or no brushing) tends to develop in late infancy or during the second year. When severe, numerous deep caries, enamel erosion, and abscesses make sucking and chewing painful, and the chronic infection adds immune stress, which also can contribute to inadequate intake and secondary growth impairment. This age group is also the most likely to be given large quantities of juice throughout the day, damping their hunger for more nutritious foods and milk.

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Of all the organic causes of or contributors to failure to thrive, gastroesophageal reflux, whether with decreased feeding due to esophagitis or increased losses from vomiting, or both, and chronic nonspecific diarrhea are the major contributors. The latter may stem from diet (high juice, sorbitol intake), recurrent infection with its combination of immune stress and cycles of antibiotic administration, or malabsorption due to malnutrition, among other factors. Whether of psychosocial, organic, or combined origin, growth failure in infancy and early childhood is the result of insufficient provision, retention, and/or absorption of nutrients—protein, fat, carbohydrates (and often micronutrients and vitamins)—to meet the needs for protein and energy required for normal growth and development of the child. This insufficiency can result from failure of the mother to offer adequate amounts of breast milk, formula, and, later, foods and milk or from inappropriate feeding (psychosocial); inadequate intake by the infant (anorexia, feeding refusal, feeding/swallowing difficulty); inability to retain adequate nutrition (vomiting/malabsorption); growth inefficiency (chronic infection, cardiopulmonary disease, hypothyroidism); or unusually high caloric needs (malignancy, chronic illness, hyperthyroidism). Once undernutrition reaches a significant level (generally when weight, height, and head circumference growth are all impaired), the infant tends to become caught up in a vicious cycle: with malnutrition impairing immune function, which

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increases frequency/chronicity/severity of infection, which causes anorexia with decreased intake and decreased nutrient absorption while adding to caloric needs, thereby further exacerbating the malnutrition. In addition to this cycle there is another involving maternal–child interaction: the malnourished infant, regardless of cause, tends to become progressively more irritable and listless; less engaging and engageable; and, therefore, less rewarding to care for. Hence a combination of physical and psychosocial factors comes into play in all cases of severe failure to thrive.

Evaluation and Management of Failure to Thrive Given the vicious cycles described earlier; given the prevalence of undernutrition, variably estimated at between 2% and 10% in the United States; given the high percentage of cases in which psychosocial factors are the primary cause or a prime contributor in an infant with organic disease; and given the stresses of caring for infants with severe organic disorders, it is essential in evaluating the infant with poor growth to obtain a thorough psychosocial and family history, as well as a detailed medical history (Table 6-11). The latter should include information regarding duration of the problem, mode of onset, and pattern of growth. Asking the parents how easy or difficult it is to take care of this child is also helpful. A complete review of systems (gastrointestinal,

Findings in Failure to Thrive in Infancy

Cause

Approximate Percentage of All Cases

History

System-specific Physical Findings

System-specific Laboratory Studies

Psychosocial

Up to 50% or more

Vague, inconsistent feeding history, history of bottle propping Poor feeding, gross developmental delay, vomiting

None, may have soft neurologic signs

None

Central nervous system

13%

Grossly abnormal neurologic findings

10%

Chronic vomiting and/or diarrhea, abnormal stools, crying with feedings, nocturnal cough/ snoring

Often negative, may have abdominal distention

Cardiac

9%

Often cyanotic or have signs of congestive heart failure

Genetic

8%

Slow feeding, dyspnea and diaphoresis with feeding, restlessness and diaphoresis during sleep May have positive family history or a history of developmental delay

Frequent gross abnormalities on EEG and CT scan or grossly abnormal tests of neuromuscular function Abnormal barium, pH probe, or endoscopic study; abnormal stool findings (pH, reducing substances, fat stain, Wright stain) Abnormal echocardiogram, ECG, catheterization findings

Gastrointestinal

Pulmonary

3.5%

Renal

3.5%

Chronic or recurrent dyspnea with feedings, tachypnea May be negative or may have history of polyuria

Grossly abnormal chest examination findings Often negative, may have flank masses

Endocrine

3.5%

With hypothyroidism, constipation and decreased activity level; with diabetes, polyuria, polydipsia

With hypothyroidism, no wasting but mottling, umbilical hernia, often open posterior fontanelle. With diabetes, often without specific abnormality, but may have signs of dehydration, ketotic breath, and hyperpnea. With hypopituitarism and isolated growth hormone deficiency, growth normal until 9 mo or later, then plateaus, but normal weight for height; delayed tooth eruption

Often have facies typical of a syndrome, skeletal abnormalities, neurologic abnormalities, or visceromegaly

May have typical radiographic findings, chromosomal abnormalities, abnormal metabolic screens Abnormal chest radiographs Abnormal urinalysis, frequently elevated BUN and creatinine, signs of renal osteodystrophy on radiographs Decreased T4, increased TSH; glucosuria and hyperglycemia; abnormal pituitary function study results

BUN, blood urea nitrogen; CT, computed tomography; ECG, electrocardiogram; EEG, electroencephalogram; T4, thyroxine; TSH, thyroid-stimulating hormone.

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cardiorespiratory, neurologic, genitourinary, and endocrine), emphasizing intake and output, is often helpful. A thorough, specific, and concrete feeding and dietary history is essential, including the following:

services, housing, and mental health issues. This is often best accomplished by a specialized multidisciplinary team.

1. Specific items offered and amounts taken at each feeding, with calorie counts

It must be emphasized that emotional abuse accompanies all of the other forms of abuse described previously. It can also occur in isolation and can range from inattentiveness to frank rejection, scapegoating, or even terrorizing. Because isolated emotional abuse is difficult to document, leaving no visible stigmata, it accounts for the smallest proportion of reported cases. Victims may present with chronic severe anxiety, hyperactivity, depression, agitation, or frank psychotic reactions. Many victims are socially withdrawn, have trouble relating to peers, and generally perform poorly in school. Low self-esteem is the rule. If emotional abuse is suspected, psychological testing and psychiatric examination may prove helpful in confirming its existence and directing treatment.

2. Times fed—regular or erratic, of sufficient frequency? 3. Feeding situation—place in home, fed by whom, held for feeding or bottle-propped 4. Feeding atmosphere—noise level, calm or chaotic, discord 5. Feeding method: • Breast—time at each breast, sufficient to empty? • Child’s positioning • Milk production • Adequacy of mother’s diet • Bottle—type of formula • How mixed? • How much fed, how often? • Total volume per 24 hours 6. Infant’s demeanor/behavior during feedings: • Disinterest/anorexia • Refusal 7. Mother’s dietary beliefs/concerns/fears 8. Home facilities for food storage/preparation It is also highly important to observe the maternal–child interaction, especially during feedings, to assess the behavior and demeanor of each and their degree of mutuality, cueing, and attentiveness to cues. A thorough general physical examination will reveal gross abnormalities in patients with underlying CNS, cardiopulmonary, or genetic problems. A few basic screening tests (complete blood count and differential; urinalysis and culture; stool pH, reducing substance, and fat stain; and urea nitrogen, electrolytes, and creatinine) can serve to rule out most other organic causes of failure to thrive. If onset of poor growth follows introduction of wheat into the diet, a celiac panel should be obtained. Table 6-11 summarizes the most common causes of infantile growth failure and their major findings on evaluation. The earlier that growth impairment/undernutrition is recognized, evaluated as to cause(s), and treatment instituted, the better, because the more long-standing the problem, the more difficult it is to treat, and the greater the risk of long-term sequelae, especially in cases of neglect and primary psychosocial failure to thrive. The latter include developmental delay and cognitive deficits secondary to impaired brain growth and inadequate stimulation that may not be fully reversible with therapy and early intervention. There is evidence that even if good nutrition is reestablished and catch-up growth is achieved, failure to improve emotional nurturing perpetuates developmental delays. An increased incidence of behavior problems and of affective and motivational disorders has also been found later in childhood in children who had psychosocial failure to thrive as infants and toddlers. Effective treatment depends on helping the mother (in a supportive and nonthreatening manner) understand the nature of the problem, her child’s nutritional needs, and the need for increased caloric density to accomplish catch-up growth (1.5 to 2 times normal requirements), thereby enlisting her as part of the treatment team and the process. This must be supplemented by education regarding her baby’s emotional and developmental needs and the importance of warm, consistent nurturing. The process may also necessitate helping her to get and accept help with feeding support, early intervention

EMOTIONAL ABUSE

REPORTING Each state has regulations requiring health care providers, hospitals, and professionals involved in child care to report suspected cases of abuse and neglect to CPS agencies. Although these regulations are similar, they vary from state to state, and clinicians should become familiar with the regulations in their respective states. The suspected abuse or neglect must result from the acts or omissions of a parent, stepparent, or other person in a caretaking role. For abuse to be reported, reasonable grounds for suspicion are required, not clinical certainty. There is no penalty for reporting in good faith after careful evaluation, but there can be severe penalties for failure to report. Many states require physicians and hospitals to notify police regarding cases involving severe abuse (potentially lifethreatening or threatening a vital sense organ or limb), as well as sexual abuse. This can be done by the clinician evaluating the patient or by CPS, but, unfortunately, the latter often do not notify police promptly. Cases of stranger rape, physical assault, or abuse perpetrated by a person in a noncaretaking role must be reported to law enforcement and not CPS because such situations usually do not involve caretakers. CPS should be notified, however, if it is suspected that parental negligence was also contributory. Pediatricians may be unaware of the definition of statutory rape, which varies by state. In these cases a child may “consent” to intercourse but may, by legal definition, not be considered old enough to give consent. These laws usually specify the age difference between the sexual partners. Particularly when dealing with adolescents, who may hesitate to disclose either consensual activity or sexual assault for fear of mandatory reporting to the police and having to testify, one must consider what, in the clinician’s best judgment, is in the best interest of the patient, given the information at hand. In rare instances the child may be at further risk if the physician reports the abuse (e.g., believable threats of suicide by the patient). In those instances one must document reasons for failure to report the event to the authorities and try to ensure follow-up with the patient.

CONCLUSION Although treatment and follow-up are beyond the scope of an atlas of physical diagnosis, a few additional points bear emphasis. Use of a team approach including physicians, nurses, and social workers or psychologists greatly assists evaluation of victims of abuse and their families, and it reduces the burden on any one health care worker. Reporting requirements necessitate only reasonable grounds for suspicion and place the onus



of full investigation on state agencies. Unfortunately, close follow-up, although highly important, is often neglected, especially when patients get caught up in large bureaucratic systems. Having improved our performance on identification and documentation of cases, we must increasingly apply ourselves to assisting better long-term follow-up to ensure that victims not only are safe from harm but also have access to medical, educational, and mental health services to help them cope with, and when possible, overcome physical and emotional sequelae, thereby improving outcomes. Bibliography Ablin DS, Greenspan A, Reinhart M, et al: Differentiation of child abuse from osteogenesis imperfecta, Am J Radiol 154:1035-1046, 1990. Ablin S, Sane SM: Nonaccidental injury: Confusion with temporary brittle bone disease and mild osteogenesis imperfecta, Pediatr Radiol 27:111-113, 1997. Adams JA, Kaplan RA, Starling SP, et al: Guidelines for medical care of children who may have been sexually abused, J Pediatr Adolesc Gynecol 20:163172, 2007. Alexander R, Crabbe L, Sato Y, et al: Serial abuse in children who are shaken, Am J Dis Child 144:58-60, 1990a. Alexander R, Sato Y, Smith W, et al: Incidence of impact trauma with cranial injuries ascribed to shaking, Am J Dis Child 144:724-726, 1990b. Alexander RC, Schor DP, Smith WL: Magnetic resonance imaging of intracranial injuries for child abuse, J Pediatr 109:975-979, 1986. American Academy of Pediatrics, Committee on Child Abuse and Neglect: Distinguishing sudden infant death syndrome from child abuse fatalities, Pediatrics 107:437-441, 2001. Amodio J, Spektor V, Pramanik B, et al: Spontaneous development of bilateral subdural hematomas in an infant with benign infantile hydrocephalus: color Doppler assessment of vessels traversing extra-axial spaces, Pediatr Radiol 35:1113-1117, 2005. Bauer CH, editor: Failure to thrive, Pediatr Ann 7:737-795, 1978. Bays J, Jenny C: Genital and anal conditions confused with child sexual abuse trauma, Am J Dis Child 144:1319-1322, 1990. Berenson AB, Heger AH, Hayes JM, et al: Appearance of the hymen in prepubertal girls, Pediatrics 89:387-394, 1992. Case ME, Graham MA, Corey Handy T, et al: National Association of Medical Examiners Ad Hoc Committee on Shaken Baby Syndrome: Position paper on fatal abusive head injuries in infants and young children, Am J Forens Med Pathol 22:112-122, 2001. Centers for Disease Control and Prevention: CDC Sexual assault and STD guidelines, 2010: Sexual assault or abuse of children. Available from http:// www.cdc.gov/std/treatment/2010/sexual-assault.htm#a2 Chadwick DL: The diagnosis of inflicted injury in infants and young children, Pediatr Ann 21:477-483, 1992. Chadwick DL, Berkowitz CD, Kerns DL, et al: Color atlas of child sexual abuse, Chicago, 1989, Year Book. Chadwick DL, Chin S, Salerno C, et al: Deaths from falls in children: how far is fatal? J Trauma 31:1353-1355, 1991. Christian CW, Lavelle JM, DeJong AR, et al: Forensic evidence findings in prepubertal victims of sexual assault, Pediatrics 106:100-104, 2000. Coant PN, Kornberg AE, Brody AS, et al: Markers for occult liver injury in cases of physical abuse in children, Pediatrics 89:274-278, 1992. Dubowitz H, Bross DC: The pediatrician’s documentation of child maltreatment, Am J Dis Child 146:596-599, 1992. Duhaime AC, Gennarelli TA, Thibault LE, et al: The shaken baby syndrome: a clinical, pathological and biomechanical study, J Neurosurg 66:409-415, 1987. Ewing-Cobbs L, Prasad M, Kramer L, et al: Acute neuroradiologic findings in young children with inflicted or noninflicted traumatic brain injury, Childs Nerv Syst 16:25-34, 2000. Finkelhor D: Current information on the scope and nature of child sexual abuse, Future Child 4:31-53, 1994. Finkelhor D: Improving research, policy, and practice to understand child sexual abuse, JAMA 280:1864-1865, 1998. Gilliand MGF, Folberg R: Shaken babies—some have no impact injuries, J Forens Sci 41:114-116, 1996. Girardet RG, Lahoti S, Howard LA, et al: The epidemiology of sexually transmitted infections in suspected child victims of sexual assault, Pediatrics 124:79-86, 2009. Green FC, editor: Incest and sexual abuse, Pediatr Ann 8:1-103, 1979. Hadley MN, Sonntag VKH, Rekate HL, et al: The infant whiplash-shake injury syndrome: a clinical and pathological study, Neurosurgery 24:536-540, 1989. Heger A, Emans SJ, Muram D: Evaluation of the sexually abused child, ed 2, New York, 2000, Oxford University Press. Helfer RE: The neglect of our children, Pediatr Clin North Am 37:923-942, 1990. Helfer RE, Kempe HC, editors: The battered child, ed 5, Chicago, 1997, University of Chicago Press.

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Herman-Giddens ME, Brown G, Verbiest S, et al: Underascertainment of child abuse mortality in the United States, JAMA 282:463-467, 1999. Hodge D, Ludwig S: Child homicide: Emergency department recognition, Pediatr Emerg Care 1:3-6, 1985. Hoffman GF, Athanossopoulos S, Burlina AB, et al: Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency, Neuropediatrics 27:115-123, 1996. Homer MD, Ludwig S: Categorization of etiology of failure to thrive, Am J Dis Child 135:848-851, 1981. Hymel KP, Hall CA: Diagnosing pediatric head injury, Pediatr Ann 34:358-370, 2005. Hymel KP, Jenny C: Abusive spiral fractures of the humerus: a videotaped exception, Arch Pediatr Adolesc Med 150:226-227, 1996. Jenny C, Hymel KP, Ritzen A, et al: Analysis of missed cases of abusive head trauma, JAMA 281:621-627, 1999. Jenny C, Committee on Child Abuse and Neglect: Evaluating infants and young children with multiple fractures, Pediatrics 118:1299-1303, 2006. Johnson CF: Inflicted injury versus accidental injury, Pediatr Clin North Am 37:791-814, 1990. Kellogg ND, Committee on Child Abuse and Neglect: Clinical report—the evaluation of sexual behaviors in children, Pediatrics 124:992-998, 2009. Kessler DB, Dawson P, editors: Failure to thrive and pediatric undernutrition, a transdisciplinary approach, Baltimore, 1999, Paul H. Brookes. Kleinman P: Diagnostic imaging of child abuse, ed 2, St. Louis, 1998, Mosby. Kleinman PK, Blackbourne BD, Marks SC, et al: Radiologic contributions to the investigation and prosecution of cases of fatal infant abuse, N Engl J Med 320:507-511, 1989. Krugman RD: Recognition of sexual abuse in children, Pediatr Rev 8:25, 1986. Lavy U, Bauer CH: Pathophysiology of failure to thrive and gastrointestinal disorders, Pediatr Ann 7:10-33, 1978. Levin AV, Magnusson MR, Rafto SE, et al: Shaken baby syndrome diagnosed by magnetic resonance imaging, Pediatr Emerg Care 5:181-186, 1989. McCann J, Voris J, Simon M, et al: Perianal findings in prepubertal children selected for non-abuse: a descriptive study, Child Abuse Negl 13:179-193, 1989. McCann J, Wells R, Simon M, et al: Genital findings in prepubertal girls selected for non-abuse: a descriptive study, Pediatrics 86:428-439, 1990. McCann JJ, Kerns DL: The anatomy of child and adolescent sexual abuse: a CD-ROM atlas/reference, St. Louis, 1999, InterCorp. Morris AAM, Hoffmann GF, Naughton ER, et al: Glutaric aciduria and suspected child abuse, Arch Dis Child 80:404-405, 1999. Ophthalmology Child Abuse Working Party, Royal College of Ophthalmologists: Child abuse and the eye, Eye 13:3-10, 1999. Paradise JE: The medical evaluation of the sexually abused child, Pediatr Clin North Am 37:839-862, 1990. Piatt JH Jr: A pitfall in the diagnosis of child abuse, external hydrocephalus, subdural hematomas and retinal hemorrhages, Neurosurg Focus 7:4, 1999. Available at http://www.aans.org/education/journal/neurosurgical/ oct99/7-4-4.asp Pierce MC, Bertocci GE, Janosky JE, et al: Femur fractures resulting from stair falls among children: an injury plausibility model, Pediatrics 115:1712-1722, 2005. Pierce MC, Bertocci GE, Vogeley E, et al: Evaluating long bone fractures in children: a biomechanical approach with illustrative cases, Child Abuse Negl 28:505-524, 2004. Reece RM: Unusual manifestations of child abuse, Pediatr Clin North Am 37:905-922, 1990. Reece RM, Ludwig S, editors: Child abuse: medical diagnosis and management, ed 2, Philadelphia, 2001, Lippincott Williams & Wilkins. Reece RM, Sege R: Childhood head injuries, accidental or inflicted? Arch Pediatr Adolesc Med 154:11-22, 2000. Reiber GD: Fatal falls in childhood: How far must children fall to sustain fatal head injury? Report of cases and review of the literature, Am J Forens Med Pathol 14:201-207, 1993. Rosenberg NM, Marino D: Frequency of suspected abuse/neglect in burn patients, Pediatr Emerg Care 5:219-221, 1989. Rosenn DW, Loeb LS, Jura MB: Differentiation of organic from nonorganic failure to thrive syndrome in infancy, Pediatrics 66:698-704, 1980. Schwartz ID: Failure to thrive: an old nemesis in the new millennium, Pediatr Rev 21:257-264, 2000. Sills RH: Failure to thrive, Am J Dis Child 132:967-969, 1978. Starling SP, Holden JR, Jenny C: Abusive head trauma: the relationship of perpetrators to their victims, Pediatrics 95:259-262, 1995. Stephenson T, Bialas Y: Estimation of the age of bruising, Arch Dis Child 74:53-55, 1996. Sugar NF, Taylor JA, Feldman KW: Bruises in infants and toddlers: those who don’t cruise rarely bruise, Arch Pediatr Adolesc Med 153:399-403, 1999. West MH, Billings JD, Frair J: Ultraviolet photography: bite marks on human skin and suggested technique for exposure and development of reflective ultraviolet photography, J Forensic Sci 32:1204-1213, 1987. Woodlong BA, Kossosis PD: Sexual misuse, Pediatr Clin North Am 28:481-499, 1981.

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e2

e-Table 6-1 Common Characteristics of the Family of Origin of Poorly Socialized Adults Given in Psychosocial History*

e-Table 6-3 Character Traits and Historical Revelations of Parents/Caretakers Who Are Poorly Socialized or Have Character Disorders

History

Potential Effect on Children

Traits

Revelations in History

Evidence suggestive of impaired bonding   Maternal depression postpartum   Mother chose to go right back to work   “We were never close” Separation/divorce/ abandonment

Failure of bonding in first 6 months results in the following:   Inability/impaired ability to truly attach, trust, and, ultimately, to nurture   Inability to feel empathy or remorse

Self-focused

Unable to truly love/care for another and put the other’s needs first   Everything they recount in the history is in relation to themselves   Talk more about themselves than their child “She spends too much time with him/her” “She babies him” “She loves that kid more than me” “He’s a momma’s boy, always wants to be with/run to his mother” “He’ll come to me but then runs right back to his mother” Little or no conscience/capacity for empathy/remorse No compunction about lying and lie quite convincingly History of behavior problems—fights, school suspensions Did not finish school “because the principal had it in for me” Cannot hold a job for more than a few months “because the managers are all nuts”

Discord/domestic violence CPS involvement Alcohol/substance abuse



Fracture of parent–child bond, especially in early childhood, can result in long-term anger, distrust, emotional distance, self-doubt, and antisocial behavior These situations all may cause the following:   Anxiety, fears for self and siblings, for victimized parent   Chronic sense of uncertainty   Difficulty concentrating

*These characteristics are often repeated in subsequent generations. CPS, Child Protective Services.

Jealous of spouse’s/ significant other’s attention to the child Jealous of child’s preference for spouse/significant other Psychopathic/sociopathic tendencies Poor impulse control, short fuse, bad temper Take little or no responsibility for their own failures; instead blame others

e-Table 6-2 Common Characteristics of Child-rearing Practices of Family of Origin of Poorly Socialized Adults* Evidence of limited nurturing/supervision Child/children left with multiple caretakers Children often left alone or in each other’s care, or left to watch TV for long periods Paucity of affection, being held, interaction Lack of consistent routine/schedule for meals, getting up, naps, bedtime, time together, play Evidence of problems with discipline Inconsistency in limit setting Paying more attention to misbehavior than good behavior Giving mixed messages regarding what is or is not allowed Confusing “bad act” with “bad child” Confusing discipline with punishment Harsh discipline often delivered in anger (“You have to beat kids to make them behave”) Evidence of unrealistic expectations of child behavior/capabilities “She should know better than to cry when I have a headache.” (said of a 6-month-old baby) “He’s almost two and should be potty trained by now. He just doesn’t want to.” “He should know not to be messy when he eats.” (said of an 18-mo-old toddler) Other factors Repeated exposure to the following: Purposeful lying, deception Impulsive or explosive behavior Criticism for having normal/understandable feelings Repeated broken promises Repeated presentation with nonchoices: “Do you want to go to bed?” “No.” “Well, you’re going anyway, it’s bedtime.” Failure to teach options for behavior in response to different feelings/ situations Failure to teach how to recognize options and make good decisions/ choices in life *These characteristics are often passed on to ensuing generations.

e-Table 6-4 Mental Illness Seen in Some Abusive Adults Mental Illness

Characteristics

Severe depression

No energy, often cannot even get out of bed Inability to nurture or relate Cycling of emotional highs and lows Inconsistency (children never know what is going to happen next) Explosive behavior Hallucinations/delusions/psychosis: including voices postpartum saying the infant/child is “evil,” “must be punished,” “must die”

Bipolar disease

Schizophrenia

Note: Often parents with mental illness are resistant to seeking and participating in therapy and to consistently taking their medications.

7 

RHEUMATOLOGY Kathryn Torok  |  Paul Rosen

T

he rheumatic diseases of childhood are a heterogeneous group of disorders usually manifested by signs and symptoms of inflammation. Although significant progress has been made in the understanding of the pathophysiology of these disorders, their etiologies remain largely unknown. Despite available laboratory markers, the cornerstones of diagnosis remain the history and physical examination. Knowledge of the natural history of these disorders is also helpful for diagnosis and management. The majority of the common rheumatic diseases that occur during childhood are classified as inflammatory arthritis or enthesitis syndromes, connective tissue disorders, and vasculitides, although overlap does occur. Noninflammatory disorders that cause musculoskeletal pain include joint hypermobility syndromes and pain amplification syndromes. This chapter illustrates the more distinctive clinical features of these unique disorders.

MUSCULOSKELETAL HISTORY A meticulous rheumatologic history is the foundation of accurate diagnosis (Table 7-1). The exact location that the patient complains about should be given careful attention. Muscle, bone, and tendon or ligament insertion pain (enthesitis) may be interpreted as joint pain unless the clinician asks specifically for the parent or child to describe the symptoms. Often it is helpful for the clinician to ask the child to point with one finger to the site of maximal discomfort. The patient’s age and gender serve as initial guides to a possible etiology. The clinician must then try to discern whether musculoskeletal symptoms are inflammatory or mechanical. Pain that involves swelling, morning stiffness, warmth, redness, and improvement with movement is indicative of inflammation. Pain that is worse at the end of the day, worse with activity, and lacking persistent swelling is more mechanical in nature. A history of prior illnesses, medications, immunizations, trauma, and bites, and the acuteness of symptoms, can be a clue to diagnosis. Joint pain (arthralgia) is a common symptom of childhood. However, the symptoms associated with inflammatory joint pain (arthritis) are uncommon in the pediatric population. In children with arthritis, the duration and pattern of the symptoms can be telling. Acute migratory arthritis affecting large and small joints is seen in acute rheumatic fever (ARF). Arthritis resolving within a few weeks is consistent with a reactive arthritis (i.e., Streptococcus, EpsteinBarr virus, parvovirus B19). An additive arthritis persisting for more than 6 weeks is consistent with a chronic form of arthritis (i.e., juvenile idiopathic arthritis [JIA]). The chronic arthritides cause indolent and persistent joint changes. Joint stiffness, or gel phenomenon, can be seen not only in the morning, but also after a child has napped or been immobile in a vehicle. As the day progresses, the child with chronic arthritis may become more limber and may even appear normal. Differences in the quality and duration of arthritis exist among the various rheumatoid diseases. The arthritis in

patients with systemic lupus erythematosus (SLE) may feature less swelling with more intense pain, whereas the arthritis of children with JIA is characterized by more stiffness and swelling and less pain. The joint pain of the patient with SLE may be intermittent in nature. The joint stiffness of JIA is usually a daily occurrence without treatment. The joints of ARF can also be distinguished from those of JIA by the presence of exquisite pain that is out of proportion to physical findings. A rapid response to nonsteroidal antiinflammatory drugs further supports a clinical impression of ARF. A careful family history can be helpful. Children with an extensive family history of autoimmune diseases in their firstdegree relatives are at slightly greater risk for developing a rheumatologic condition. Because these diseases are complex genetic traits, there is often little direct genetic linkage. Some diseases such as psoriasis, SLE, acute rheumatic fever, and autoimmune thyroiditis have a stronger genetic penetrance than other rheumatic diseases. Other conditions have little or no penetrance. A child with first-degree relatives with adult rheumatoid arthritis is not at increased risk for developing juvenile idiopathic arthritis.

PHYSICAL EXAMINATION OF THE MUSCULOSKELETAL SYSTEM The only way to confirm the diagnosis of JIA is to demonstrate arthritis by physical examination of the joints. The elucidation of joint inflammation by examination may be the only indication of a rheumatic disease. Because most joints are near the surface of the body, the examiner has an excellent opportunity to obtain significant information about many diseases. A rheumatologic diagnosis requires a thorough joint examination and meticulous general physical examination with special attention to the skin, mucous membranes, nail beds, and muscles. The physical examination begins with observation of the child and parents walking from the waiting area to the examination room. The physician notes the general appearance of the patient and interactions among family members. Nutritional status and an incremental graph of height and weight must be carefully documented. Certain skin and mucous membrane changes provide valuable information (Table 7-2). Muscle strength must be evaluated first by attempting to elicit a Gowers sign (Fig. 7-1) and then by testing resistance capacity of individual muscle groups and grading them on a standard scale (Table 7-3). The hallmark of a good physical examination of the musculoskeletal system is a careful examination of the joints, consisting of inspection, palpation, and measurement of each joint’s range of motion. The examiner should develop a standard order for examining joints and follow the same pattern so that no joints are missed. Large effusions are easily felt and often ballotable; synovial hypertrophy may be more subtle and has a doughy, spongy, boggy feel. Synovial outpouchings are common in children with arthritis and can resemble ganglion cysts, especially in the wrists and ankles. A ganglion cyst does 259

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Table 7-1

Distinguishing Features of the Rheumatologic History

1. 2. 3. 4.

Musculoskeletal pain Joint swelling Morning stiffness that improves with activity Constitutional symptoms (e.g., recurrent fevers, fatigue, weight loss, growth disturbance) 5. Ocular symptoms (e.g., eye redness, visual change) 6. Cardiopulmonary symptoms (e.g., dyspnea, chest pain, hemoptysis) 7. Gastrointestinal symptoms (e.g., dysphagia, abdominal pain, melena) 8. Neurologic symptoms (e.g., vascular headache, weakness, seizure, altered mental status) 9. Cutaneous and mucous membrane symptoms (e.g., photosensitive rash; Raynaud phenomenon; oral, nasal, or genital ulcerations; xerostomia; and keratoconjunctivitis sicca) 10.  Psychosocial history (e.g., family dysfunction, fibromyalgia, depression, chronic pain) 11.  Family history (e.g., psoriasis, rheumatic fever, systemic lupus erythematosus)

Table 7-3

Standard Muscle Strength Grading

Muscle Grade

Description

5 4 3 2 1 0

Complete range of motion against gravity with full resistance Complete range of motion against gravity with some resistance Complete range of motion against gravity Complete range of motion with gravity eliminated Evidence of slight contractility; no joint motion No evidence of contractility

Cervical Spine In children the neck can be extended so that the head can touch the back and flexed so that the chin touches the chest; 90-degree rotation and 45-degree lateral bending in each direction is also normal (Fig. 7-3).

Cricoarytenoid Joint not cause pain. In children with arthritis the findings may be subtle and often appreciated only because of pain or decreased range of motion.

The cricoarytenoid joint is rarely involved in JIA but can present a life-threatening complication if edema and scarring interfere with respiration. An early symptom is hoarseness because arytenoid movement is important to phonation.

Temporomandibular Joint

Acromioclavicular Joint

The temporomandibular joint (TMJ) permits three types of motion: (1) opening and closing of the jaw, (2) anterior and posterior motion, and (3) lateral or side-to-side motion; each type should be carefully measured. Careful observation of the TMJ may reveal micrognathia, a clue to the diagnosis of JIA (Fig. 7-2).

The acromioclavicular joint is formed by the lateral end of the clavicle and the medial margin of the acromial process of the scapula; it allows for “shrugging” of the shoulders.

Table 7-2

Mucocutaneous Signs of the Rheumatic Diseases

1. 2. 3. 4. 5. 6. 7. 8.

Malar rash Discoid rash—rare in childhood; often heals with atrophy and scarring Periungual erythema Telangiectasias Fingertip ulcers Alopecia and fracturing of frontal hair Heliotrope-violaceous eyelid edema Gottron papules—scaly, symmetrical, erythematous papules over MCP and PIP joints 9. Skin thickening, contractures, calcinosis 10.  Palpable purpura 11.  Livedo reticularis—lacy, fishnet appearance of skin 12.  Evanescent salmon-pink rash 13.  Erythema nodosum—panniculitis with septal inflammation 14.  Rheumatoid extensor nodules 15.  Psoriasis 16.  Onycholysis (lifting up of the distal portion of the nail), nail pits 17.  Balanitis circinata—small, shallow, painless ulcers of the glans penis and urethral meatus 18.  Keratoderma blennorrhagicum—clear vesicles on erythematous bases that progress to macules, papules, and keratotic nodules MCP, metacarpophalangeal; PIP, proximal interphalangeal.

Sternoclavicular Joint The two sternoclavicular (SC) joints are the only points of articulation between the shoulder girdle and trunk; they move with any motion of the shoulders. The SC joints can be involved in the spondyloarthropathies, in which they become ankylosed (fused).

Shoulder The shoulder is usually involved only in severe polyarticular JIA. It is an extremely complicated joint, but range of active motion can be conveniently tested by having the child perform three simple maneuvers (Fig. 7-4). These maneuvers require 180 degrees of abduction, 45 degrees of adduction, 90 degrees of flexion, and 45 degrees of external rotation of the glenohumeral joint and related articulations.

Elbow The examiner must distinguish swelling in the olecranon bursa from involvement of the true elbow joint. The elbow is frequently affected in all forms of JIA and is the most common upper extremity joint affected in spondyloarthropathy. Range of motion of the elbow is easily tested (Figs. 7-5 and 7-6).

Wrist and Hand Children do not require much extension to perform most activities of daily living and thus can lose strength and mobility in the wrist, which may go unnoticed. The wrist is frequently affected in childhood arthritis, and thus a careful range of motion examination is essential. Normal is 70 degrees

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261

A

B

C

D

Figure 7-1  Gowers sign. The child begins in a prone position and is asked to stand. The child is unable to rise without rolling over and progressively pushing to the knees and using hands to push up to a standing position.

of extension, 80 degrees of flexion (Fig. 7-7), 20 degrees radially, and 30 degrees to the ulnar side. Metacarpophalangeal (MCP) joints extend 30 degrees and flex 90 degrees. Normal range of motion for the proximal interphalangeal (PIP) joints is illustrated in Figure 7-8.

Hip The normal hip examination consists of 45 degrees of abduction and 20 degrees of adduction (Fig. 7-9) with the knee bent 20 degrees. The hip can extend 30 degrees, externally rotate to 45 degrees, and internally rotate to 35 degrees. An increase in lumbar lordosis may be the first sign of decreased hip flexion. Normally, hip flexion reaches to about 135 degrees (Fig. 7-10).

Knee

Figure 7-2  Micrognathia. Note the underdevelopment of the jaw and retracted chin. This occurs in patients with juvenile idiopathic arthritis.

The knee is the joint most commonly involved in childhood arthritis. Swelling of the knee may be diffuse or localized to the suprapatellar bursa, which communicates with the true knee joint, or to the gastrocnemius-semimembranosus bursa (Baker cyst) (Fig. 7-11), which may dissect down the leg. The patella must be carefully evaluated for “roughening of the undersurface” indicative of chondromalacia patellae, which is not uncommon in teenage girls. Normal knee range of motion is illustrated in Figure 7-12.

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C

B

A

D

Figure 7-3  A child’s neck normally can be extended so that the head touches the back (A), flexed so that the chin touches the chest (B), rotated 90 degrees (C), and tilted laterally 45 degrees (D).

C

B

A

Figure 7-4  Testing range of motion of the shoulder. A, Place hand behind head and touch opposite shoulder (external rotation and abduction). B, Place back of hand behind the back and touch opposite scapula. C, Place hand on opposite shoulder. (Movements in B and C test internal rotation and adduction.)

A

C

B

Figure 7-5  Supination and pronation of the elbow. The elbow should be held flexed at 90 degrees and against the body. A, The fist is held in a neutral vertical position and then B, rotated 90 degrees in pronation and C, 90 degrees in supination.

A

B

Figure 7-6  A, The elbow should extend from 0 degrees with the arm held down and B, flex to 150 degrees.

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A

B

Figure 7-9  The normal hip can be adducted 20 degrees.

C Figure 7-7  The wrist should extend to 70 degrees (A) from a neutral position (B) and flex to 80 degrees (C).

Figure 7-10  The normal hip can be flexed 135 degrees.

A

B

C Figure 7-8  The metacarpophalangeal joints can extend 30 degrees (A) and flex 90 degrees (B). Note the normal range of motion for the proximal interphalangeal joints (C).

Figure 7-11  Arthrogram demonstrates communication of Baker’s cyst with synovial cavity of the knee joint.

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(80 degrees of extension to 35 degrees of flexion). The MTP joints should be squeezed enough to wrinkle the skin.

Leg Length Leg length discrepancy (Fig. 7-14) is common in JIA because of hyperemia of an affected joint and subsequent overgrowth. Compensatory scoliosis may also develop.

Thoracic Spine/Lumbar Spine/Sacroiliac Joints

Figure 7-12  Normal knee range of motion extends from 10 degrees of hyperextension (left knee) to 130 degrees of flexion (right knee).

Foot and Ankle The foot and ankle can offer valuable clues to the diagnosis of arthritis in childhood. Evidence of Achilles tendinitis or plantar fasciitis can suggest a spondyloarthropathy. First metatarsophalangeal (MTP) joint involvement is also a strong clue to the diagnosis of a spondyloarthropathy. Normal ranges of motion of the true ankle joint and subtalar joint are illustrated in Figure 7-13, and decreased range of motion is common in oligoarticular JIA. Careful flexion and extension of all interphalangeal joints of the feet must be evaluated, especially the first MTP joint

The entire spine including all spinous processes should be carefully palpated to elicit tenderness. Flexion, extension, and lateral motion of the spine should be measured, using S1 as the focal point. Thirty degrees of extension and 50 degrees of lateral motion are normal. Careful examination of the sacroiliac joints (Fig. 7-15) may give an important clue to the diagnosis of a spondyloarthropathy in an adolescent. Chest expansion, occiput-to-wall, and finger-to-floor measurements (Fig. 7-16) are useful in monitoring patients with inflammatory back disease. To detect limitation of forward flexion of the lumbar spine, the Schober test is quite useful. The patient is asked to stand erect, and the skin overlying the spinous process of the fifth lumbar vertebra (usually at the level of the “dimples of Venus”) and another point 10 cm above in the midline are marked. The patient is asked to maximally bend the spine forward without bending the knees. If the lumbar spine is mobile, the distance between the two points increases by 5 cm or more; that is, the distance between the two points becomes equal to or greater than 15 cm. An increase of 4 cm or less indicates decreased mobility of the lumbar spine.

JUVENILE IDIOPATHIC ARTHRITIS

A

B

C

D

Figure 7-13  The ankle normally can flex to 20 degrees (A) and extend to 45 degrees (B). Inversion occurs to 30 degrees (C), and eversion occurs to 20 degrees (D).

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children. JIA is a broad term that is used to describe chronic arthritis in children. The group of diseases placed under the JIA rubric combines diverse entities, generally divided into seven categories: (1) oligoarthritis (persistent or extended), (2) polyarthritis (rheumatoid factor negative), (3) polyarthritis (rheumatoid factor positive), (4) enthesitisrelated arthritis (ERA), (5) psoriatic arthritis, (6) systemic arthritis, and (7) undifferentiated arthritis. The JIA onset type is based on the disease presentation during the first 6 months of illness. The presenting subtype of JIA may differ from the child’s ultimate disease course. Of note, no laboratory tests, such as a positive anti-nuclear antibody or rheumatoid factor, are required to make a diagnosis of JIA. The incidence of JIA is approximately 10 cases per 100,000 population per year. The prevalence of JIA is approximately 100 per 100,000 population. JIA in the United States is estimated to affect more than 300,000 children.

Figure 7-14  Leg length is measured from the anterosuperior iliac spine to the medial malleolus.

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265

B D

A

C

E

Figure 7-15  Clinical tests for sacroiliitis. A, Application of direct pressure by thumbs over the sacroiliac joints to elicit tenderness. B, With knee flexed and hip flexed, abducted, and externally rotated, downward pressure is applied on the flexed knee and the contralateral anterosuperior iliac spine. C, Compression of the pelvis with patient lying on side. D, Patient lying supine, with flexed knee pushed maximally toward the opposite shoulder. E, Anterosuperior iliac spines forced laterally apart.

The first clear description of these entities was presented by George Still in 1897. He postulated multiple etiologies for childhood arthritis, and this concept is still supported today. All forms of JIA feature inflammation of the synovial tissue as one of the cardinal features. Synovium is usually hypertrophied, and joint effusions may occur. On physical examination (Fig. 7-17), joint swelling, loss of normal anatomical landmarks, tenderness, decreased joint mobility (Fig. 7-18), warmth, erythema, and joint deformity may be noted. It is typical for the child with JIA to have more joint stiffness than pain. Symptoms often develop gradually over a period of weeks or months before evaluation. Morning stiffness is often reported. The duration of morning stiffness correlates well with the degree of inflammation in children with JIA. Immobility and weather changes may exacerbate symptoms, although they have no impact on the underlying inflammatory component of the disease. Although arthralgia alone can be

the initial presentation of JIA, the diagnosis cannot be confirmed without the presence of arthritis on physical examination. Despite objective signs of arthritis, the patient with JIA may not experience pain. When inflammation persists for a long enough period of time, destruction of the articular surface and bony structures may occur (Fig. 7-19). Because of the poor regenerative properties of articular cartilage, these deformities are usually permanent. Fortunately, most cases of JIA are not associated with permanent joint deformity.

Oligoarthritis (Persistent or Extended) Oligoarthritis is defined as arthritis in one to four joints. The large joints (knees, ankles, and elbows) are often asymmetrically involved. Systemic symptoms do not dominate the clinical picture. Persistent disease affects no more than four joints throughout the disease. Extended disease affects more than four joints after the first 6 months.

Polyarthritis (Rheumatoid Factor Negative) Polyarthritis accounts for approximately 30% of all children with JIA. To make the diagnosis, five or more joints must be involved in the absence of prominent systemic signs and symptoms. Rheumatoid factor–negative polyarthritis can occur at age 1 year, with a peak incidence at age 2 years. The onset of polyarthritis may be insidious or acute. Children with seronegative disease generally have a better prognosis, but a subset can progress to joint destruction and flexion contractures. Any synovial joint may be involved in the inflammatory process including the knees, wrists, elbows, ankles, small joints of the feet, and proximal interphalangeal (PIP) and MCP joints. The lumbosacral spine is usually spared.

Polyarthritis (Rheumatoid Factor Positive)

Figure 7-16  With feet together, the child bends forward. The measurement from floor to fingertip is recorded and compared with subsequent examination.

The seropositive group is believed to be nearly identical to the adult entity of rheumatoid arthritis (RA). Although onset of rheumatoid factor–positive polyarthritis can occur as early as 8 years of age, it usually occurs in the early teens and girls predominate. Whereas 80% of all adult patients are

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B

A

C

D

Figure 7-17  Juvenile idiopathic arthritis (JIA). A, Erythema of the knee in a patient with systemic-onset JIA (Still disease). B, Swelling and inflammation of the small joints of the hands in a patient with polyarticular JIA. Note the inability to fully extend the fingers. C, Swelling of the right thumb interphalangeal joint. D, Right knee swelling in a patient with pauciarticular JIA.

seropositive, only 5% of children with JIA are positive for rheumatoid factor. The seropositive subgroup tends to pro­ gress to destructive synovitis and a prolonged chronic course. Seropositive disease provides some additional clues to diagnosis. The subcutaneous nodules that occur in seropositive disease are firm, nontender nodules on the skin surface with

a predilection for pressure points or extensor areas. The most common location is the elbow, but the nodules also occur on the heels, hands, knees, ears, scapula, sacrum, and buttocks. Other features of seropositive disease may include cutaneous vasculitis, Felty syndrome (leukopenia and splenomegaly), and Sjögren syndrome (keratoconjunctivitis sicca and xerostomia with or without parotid swelling).

Psoriatic Arthritis Psoriatic arthritis is diagnosed in a child with arthritis and psoriasis. Criteria are also met when a child with arthritis has two of the three findings: dactylitis (“sausage digit”), nail

B

A

C

Figure 7-18  Oligoarticular juvenile idiopathic arthritis. A, A 2-year-old girl with arthritis of the left knee. Note that the left lower extremity is bent at the knee as she bears weight on the extended right lower extremity. B, A closer look at the knees reveals left knee swelling. C, The left knee can be extended only to 35 degrees (secondary to a flexion contracture).

Figure 7-19  Juvenile idiopathic arthritis. Demineralization of the left femur and tibia with soft tissue swelling and hypertrophy of the epiphyses secondary to hyperemia.

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pitting (or onycholysis), or psoriasis in a first-degree relative. Whereas the forms of arthritis previously discussed have weak genetic penetrance, psoriasis and its related disorders are often found through a given family’s pedigree. A patient may often present to their physician with just dactylitis of one or multiple toes. In such a situation, in addition to a detailed joint examination, a detailed skin and nail examination should be performed (Fig. 7-20). Special attention should be paid to the scalp, the umbilicus, posterior ears, gluteal cleft, and shins.

Enthesitis-related Arthritis Arthritis with enthesitis features inflammation of the tendon and tendon insertion site (i.e., Achilles). The other features that distinguish this disease group include sacroiliitis, HLA-B27 positivity, male predominance, and acute uveitis (presenting with eye pain and redness). This group also has a strong family predominance with first-degree relatives with ankylosing spondylitis, inflammatory bowel disease, and Reiter syndrome. A male patient older than 6 years presenting with arthritis should raise suspicion for ERA. Younger patients present with peripheral arthritis. Axial arthritis affecting the spine often does not present until the late teen years or second decade.

Systemic Arthritis Systemic arthritis (Still disease) accounts for approximately 10% of all children with JIA. Fever, rash, irritability, arthritis, and visceral involvement dominate the clinical presentation. The patient’s temperature usually rises to greater than 39° C, and this often occurs twice daily in a double quotidian pattern. Chills are associated with fever, but rigors rarely occur.

267

Although the late afternoon is a typical time for a temperature rise, many other patterns may occur. Other manifestations of systemic arthritis, such as rash and joint symptoms, may wax and wane during febrile periods. A helpful clinical feature during the febrile phase is one subnormal temperature during every 24-hour period, which suggests JIA. The rash of JIA is macular, 2 to 6 mm in diameter, evanescent, and salmon or red in color, with slightly irregular margins (Fig. 7-21). An area of central clearing often exists. The rash usually occurs on the trunk and proximal extremities, but it may also be distal in distribution, with palms and soles affected. Although the rash generally does not produce discomfort, some older patients report pruritus. Superficial mild trauma to the skin, exposure to warmth, and emotional upset may precipitate the rash (Koebner phenomenon). Arthritis may not occur invariably at the onset of systemic arthritis, and thus the diagnosis may not be readily apparent. When fever of unknown origin is the sole initial presentation of systemic arthritis, it must remain a diagnosis of exclusion until the clinician observes inflammatory arthritis during the physical examination. Arthralgia and myalgia can be prominent early, as can hepatosplenomegaly and lymphadenopathy. Serositis, pleuritis, pericarditis, hyperbilirubinemia, liver enzyme elevation, leukocytosis, and anemia are supporting clinical features. About 50% of patients with systemic arthritis progress to having chronic inflammatory arthritis, which often is destructive (Fig. 7-22).

Extraarticular Manifestations Patients with JIA are at risk of developing iridocyclitis (or uveitis). Although photophobia, eye pain, and erythema can occur, uveitis is often asymptomatic. For that reason, children

A

B

C

Figure 7-20  Psoriatic arthritis. A, Erythematous plaques with silver scale. B, Dactylitis (sausage toe) of the bilateral third and fifth toes. C, Diffuse nail pitting.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 7-23  Iridocyclitis. An irregular pupil in a patient with oligoarticular juvenile idiopathic arthritis. Note synechiae projecting posteriorly toward the lens.

A

B Figure 7-21  Systemic-onset juvenile idiopathic arthritis. A and B, The rash is erythematous, macular, and often evanescent. It can be more prominent during periods of fever. Featured on trunk and extremities.

with oligoarticular and polyarticular JIA must receive slit-lamp examinations frequently. The first clinical sign of uveitis is cellular exudate in the anterior chamber. If the uveitis is left untreated, synechiae (adhesions) between the iris and lens may develop, leading to an irregular and poorly functioning pupil (Fig. 7-23). Further along in the clinical course, band keratopathy (calcium deposits in the cornea) (Fig. 7-24) may occur, as well as cataracts or glaucoma. For these reasons, strict adherence to the recommendations for eye examination outlined in Table 7-4 is necessary to help prevent visual loss in these children. Ophthalmologic complications do not parallel the activity of the arthritis. Linear growth retardation may occur in the child with active JIA, especially with systemic or polyarticular disease. The degree of growth retardation and the ultimate prognosis for reaching adult height are related to the severity and duration of inflammation and the use of corticosteroids. Treatment with steroid-sparing agents such as nonsteroidal antiinflammatory drugs (NSAIDs), disease-modifying agents (i.e., methotrexate), and biologic agents (i.e., etanercept, adalimumab, and infliximab) is currently preferred compared with the heavy steroid usage of the past. Oligoarticular arthritis can present with bizarre growth abnormalities, usually confined to leg length discrepancy or an enlarged hand or foot related to refractory ankle or wrist involvement. During early illness,

Figure 7-22  Systemic-onset juvenile idiopathic arthritis (JIA). The femoral head from a 13-year-old girl with a hip replacement shows significant bony erosion. Patients with systemic and polyarticular JIA are more likely to suffer joint destruction than are patients with oligoarticular juvenile idiopathic arthritis.

Figure 7-24  Band keratopathy. Note the calcium deposits in the Bowman layer in this patient with juvenile idiopathic arthritis.

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Table 7-4

Recommended Frequency of Ophthalmologic Examinations in Juvenile Idiopathic Arthritis Age at Onset (yr)

Duration of Disease (yr)

Risk Category

Type

ANA

Oligoarthritis or polyarthritis

+

≤6

≤4

High

+ + + + – – – NA

≤6 ≤6 >6 >6 ≤6 ≤6 >6 NA

>4 >7 ≤4 >4 ≤4 >4 NA NA

Moderate Low Moderate Low Moderate Low Low Low

Systemic disease (fever, rash)

Eye Examination Frequency (mo) 3

A

B

C

D

6 12 6 12 6 12 12 12

Recommendations for follow-up continue through childhood and adolescence. ANA, antinuclear antibodies; NA, not applicable. From Cassidy J, Kivlin J, Lindsley C, et al: Ophthalmologic examinations in children with juvenile rheumatoid arthritis, Pediatrics 117:1843-1845, 2006.

bony development may be advanced; later in the course of the illness the opposite may be true. Premature epiphyseal fusion may occur. Cardiac involvement occurs in more than one third of patients with systemic arthritis. Pericarditis, myocarditis, and endocarditis occur, with pericarditis being the most common. Chest pain, a friction rub, tachycardia, dyspnea, and supportive chest radiograph, electrocardiogram, and echocardiographic findings may occur. These episodes may last for weeks to months and are usually associated with a generalized flare of disease. Various other extraarticular manifestations including hepatosplenomegaly and lymphadenopathy are particularly common in systemic arthritis. Patients with systemic arthritis are at risk for developing a potentially fatal disorder called macrophage activation syndrome (MAS). Patients present with a toxic appearance, fever, hepatosplenomegaly, lymphadenopathy, and mucosal bleeding. If not recognized early, MAS can progress to hepatic failure, encephalopathy, and disseminated intravascular coagulation. Laboratory testing that supports a diagnosis of MAS includes evidence of hepatitis and coagulopathy. In addition, the white blood cell count, hemoglobin, and platelet counts are depressed with a normal or low sedimentation rate (Table 7-5). Diagnosis is confirmed by bone marrow aspiration

Table 7-5

269

Characteristics of Macrophage Activation Syndrome in Patients with Systemic-onset Juvenile Idiopathic Arthritis

Acutely ill with bruising, purpura, mucosal bleeding Hepatosplenomegaly Lymphadenopathy Decrease in white blood cell count, hemoglobin, and platelet count Decrease in erythrocyte sedimentation rate Elevation of alanine aminotransferase, aspartate aminotransferase, prothrombin time, partial thromboplastin time, fibrin split-products, ferritin, and triglycerides Decrease in fibrinogen, clotting factors Tissue biopsy (i.e., bone marrow, liver) may demonstrate active phagocytosis by macrophages Modified from Cassidy JT, Petty RE: Textbook of pediatric rheumatology, ed 5, Philadelphia, 2005, WB Saunders.

Figure 7-25  Macrophage activation syndrome (MAS). Bone marrow aspirate shows activated macrophages with foamy cytoplasm engulfing surrounding erythrocytes and neutrophils. (Courtesy Alexi Grom, MD, Cincinnati, Ohio.)

demonstrating activated macrophages engulfing surrounding cells (Fig. 7-25).

Differential Diagnosis Because JIA is a clinical diagnosis, strict clinical criteria have been established to make the diagnosis. Most authors suggest the presence of objective joint findings (arthritis) for a minimum of 6 consecutive weeks coupled with the exclusion of other causes of arthritis in children (Table 7-6).

Table 7-6

Differential Diagnosis of Juvenile Idiopathic Arthritis

Systemic Onset Systemic lupus erythematosus Kawasaki syndrome Acute rheumatic fever Henoch-Schönlein purpura Polyarteritis nodosa Dermatomyositis Systemic sclerosis Inflammatory bowel disease Malignancy (leukemia, neuroblastoma) Lyme disease Viral syndrome Familial Mediterranean fever Polyarticular Onset Systemic lupus erythematosus Psoriatic arthritis Hypermobility syndrome Enthesitis syndrome Reactive arthritis Oligoarticular Onset Septic joint (monoarthritis) Reiter syndrome Juvenile ankylosing spondylitis Pigmented villonodular synovitis Psoriatic arthritis Lyme disease

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

SYSTEMIC LUPUS ERYTHEMATOSUS

Figure 7-26  Lyme disease. The lesion of erythema migrans may be a large erythematous macule with central clearing, occurring singly or multiply.

Because of its destructive nature, pyogenic arthritis (e.g., staphylococci, streptococci, Haemophilus influenzae) must be ruled out in any child with active joint disease, especially monoarthritis. The intensely red and tender joint should raise suspicion of a bacterial pathogen. This combined with systemic symptoms of infection (fever, chills, malaise, rigors) should prompt the clinician to perform an arthrocentesis early in the course of the illness. Lyme arthritis can mimic oligoarticular JIA. This spirochetal form of arthritis is tick-borne and usually affects the knee, elbow, or wrist in a monoarthritic pattern with spontaneous exacerbations and remissions. Malaise, fever, myalgia, lymphadenopathy, headache, meningismus, and weakness also may occur in the first phase of the illness. The distinctive rash, known as erythema migrans (Fig. 7-26), begins as an erythematous macule or papule. After this clears, the borders of the lesion expand to form an erythematous circular lesion that can be as large as 30 cm in diameter. These lesions can initially occur singly but can progress to multiple lesions over the legs, arms, and trunk. Other manifestations of Lyme disease include neurologic complications such as seventh nerve palsy, meningitis, radiculoneuritis, and the cardiac manifestations of heart block and myopericarditis. Bilateral Bell’s palsy or seventh nerve paralysis even more strongly suggests the diagnosis of Lyme disease. Other infections cause a reactive arthritis that dissipates in less than 6 weeks. Salmonella, Shigella, Yersinia, and Campylobacter organisms should also be considered. A multitude of viruses cause arthritis. These include rubella; hepatitis B; adenovirus; and herpesviruses including Epstein-Barr virus, cytomegalovirus, varicella zoster, and herpes simplex. Parvoviruses, mumps, and enteroviruses including echovirus and coxsackievirus are associated with acute polyarthritis and occasionally have been recovered from joints. Other viruses result in reactive arthritis and may not infect the joint directly. Poststreptococcal phenomena include acute rheumatic fever (ARF) and poststreptococcal reactive arthritis. In ARF, Jones criteria are met. The child must be monitored for cardiac sequelae such as valvulitis and congestive heart failure. In poststreptococcal reactive arthritis, Jones criteria are not met. Arthritis will resolve but arthralgia can last for 6 months. The joint pain may be axial and affect the spine. In both cases, children are given prophylactic antibiotics to try and prevent future streptococcal infections. Malignancies such as neuroblastoma and leukemia may present with musculoskeletal pain. More careful evaluation generally reveals bone pain. Sickle cell disease, particularly in the form of dactylitis, can have prominent digital involvement. Hemophilia, tuberculosis, and gonorrhea infection must be considered in the patient with arthritis. Differential diagnoses of JIA are proposed in Table 7-6.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with a myriad of clinical presentations. SLE may present in an insidious fashion and hence escape early diagnosis, or it may present acutely and progress rapidly, leading to the patient’s demise. Frequently, children will present with nonspecific constitutional symptoms, such as fever, diffuse alopecia, weight loss, fatigue, and evidence of diffuse body inflammation with lymphadenopathy and hepatosplenomegaly. All organ systems have the potential to become involved, but the most common are skin, musculo­ skeletal, and renal systems in pediatric SLE (pSLE). As with other collagen vascular diseases, the etiology of SLE is unknown. Because of the large number of serologic markers known to occur in SLE, it is considered by many to be the prototype of autoimmune diseases. To increase diagnostic accuracy, the American College of Rheumatology (ACR) revised its classification criteria of lupus (Table 7-7). This classification, which combines clinical and serologic markers, is highly sensitive and specific for the diagnosis of this disease, reaching almost 100% sensitivity and specificity when 4 of the 11 criteria are present; however, the criteria are not meant for the clinical application of diagnosis and should be used as a study guide rather than applied to the clinical arena. The word lupus, which means wolf, alludes to the erosive nature of the rash of SLE (“wolf bite”) (Fig. 7-27). This feature of the disease was critical to the diagnosis of SLE until the discovery of the lupus erythematosus (LE) cell in 1948. The LE cell represents a healthy neutrophil that has phagocytosed the nuclear debris of a nonliving cell that has been coated with antibody. The antibody is directed against deoxyribonucleoprotein (DNP), which is made up of both DNA and histones. The presence of this serologic marker for lupus greatly expanded the recognized clinical entity of SLE. Although the

Table 7-7

Criteria for the Classification of Systemic Lupus Erythematosus*

Malar (butterfly) rash Discoid-lupus rash Photosensitivity Oral or nasal mucocutaneous ulcerations Nonerosive arthritis Nephritis† Proteinuria > 0.5 g/d Cellular casts Encephalopathy† Seizures Psychosis Pleuritis or pericarditis Cytopenia Positive immunoserology† Antibodies to double-stranded DNA Antibodies to Smith antigen Positive anti-phospholipid antibodies based on: IgG or IgM anti-cardiolipin antibodies or Lupus anticoagulant or Biologic false-positive test for syphilis Positive anti-nuclear antibody test *Four of 11 criteria provide a sensitivity of 96% and a specificity of 96%. † Any one item satisfies this criterion. Modified from Hochberg MC: Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus, Arthritis Rheum 40:1725, 1997.

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A

271

B

Figure 7-27  Systemic lupus erythematosus. A, Malar rash of systemic lupus erythematosus. Erythema, erosion, and atrophy are present. Note sparing of nasolabial folds. This patient also has a rash involving the forehead and chin. B, Lateral view shows ear involvement.

LE preparation has proved to be of historical interest, time has shown that it is a nonspecific immunologic phenomenon and has no specificity with respect to the diagnosis of SLE; hence, although it was included in the ACR 1982 criteria, it was not included in the ACR 1997 criteria. SLE accounts for 10% of patients with rheumatic diseases and for less than 5% of children seen in pediatric rheumatology practices. The incidence is estimated at 0.5 per 100,000 children per year. From prevalence data, it has been inferred that there are between 5000 and 10,000 children with SLE in the United States. The disease is rare in children younger than the age of 5 years. Before menarche, the boy-to-girl ratio is equal. After menarche, the ratio of affected girls to boys approaches 8 : 1. African Americans and Asians are more commonly affected than the white population. The incidence of other connective tissue diseases is higher among family members of patients with SLE. Hematologic malignancies and immunodeficiencies are also reported in increased frequency among the relatives of patients with SLE. These well-described phenomena may reflect a genetic alteration of immunity or, as some researchers suggest, the effects of a transmissible agent. The high incidence of the disease in girls supports the role of hormonal factors as contributing or modulating agents in the pathogenesis of SLE. Other investigators suggest the influence of viruses, sunlight, and emotional stress on those developing lupus. Although immunologic markers contribute to making the diagnosis of SLE, a high index of suspicion is necessary to obtain these studies. The early symptoms are often nonspecific and sometimes go unrecognized as harbingers of serious disease. Fever, fatigue, malaise, anorexia, and weight loss may be the only symptoms. In the adolescent population these symptoms may be all the more difficult to interpret. Conversely, this multisystem disease may present with a plethora of physical findings and the presentation may be so dramatic that the diagnosis is readily apparent. The most common organ manifestations at disease presentation in pSLE are musculoskeletal, cutaneous, renal, and hematologic. Cutaneous manifestations of SLE occur at some time during the course of the disease in 80% of affected individuals. There are a variety of cutaneous findings including a malar rash, photosensitive rash, palmar erythema (Fig. 7-28), annular erythema, vasculitic skin lesions with nodules or ulcerations, Raynaud phenomenon and associated ulceration, alopecia, and discoid lupus. Isolated discoid lupus is rarely seen in children, but when it occurs is usually without systemic manifestations. The same holds true for subacute cutaneous lupus, which is uncommon, presenting as a serpiginous-like

photosensitive erythematous rash associated with positive SS-A (anti-Ro) antibody. The most frequent skin manifestations of SLE are malar rash and photosensitive rash. The classic malar or butterfly rash is a maculopapular rash distributed over the cheeks (malar eminences) and extending over the bridge of the nose, while sparing the nasolabial folds (see Fig. 7-27). The malar rash is photosensitive in 30% of the patients. In general, sun exposure may not only exacerbate the skin disease but also cause a systemic flare of disease, theoretically through large exposure of the immune system to intracellular proteins through massive apoptosis of damaged skin cells. Therefore, appropriate sun protection and avoidance is strongly encouraged. An annular photosensitive rash is frequently associated with the “Sjögren syndrome antibodies” anti-Ro (SS-A) and anti-La (SS-B). The typical morphology of the rash of lupus is defined as reddish purple and raised with a whitish scale (Fig. 7-29). When the scale is removed, the underlying skin often shows “carpet tack–like” fingers on the unexposed side of the scale itself. Carpet tacking is caused by the contouring of the scale into the skin follicles. These finger-like projections on a scale strongly suggest the diagnosis of lupus. Vasculitic rashes are more violaceous and may be associated with nodules, ulceration, and palpable purpura (Fig. 7-30). These lesions are commonly found in an acral distribution, and typically result in postinflammatory hyperpigmentation. Discoid lupus, although uncommon (5% to 10% of patients with pSLE), leaves the most damage with follicular plugging and scarring. Mucosal erosions and ulcers of the oral cavity and nasal mucosa are part of lupus as well, with the most well-recognized manifestation being the “silent”

Figure 7-28  Systemic lupus erythematosus. Palmar erythema.

272

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

Figure 7-31  Systemic lupus erythematosus. “Silent” ulceration of the hard palate.

B Figure 7-29  Systemic lupus erythematosus. A, Note the localized erythematous rash in a nonmalar distribution. B, The rash of SLE often has a slight white scale.

large violaceous ulceration of the hard palate (Fig. 7-31). Alopecia occurs in 20% of patients and may present as broken hair shafts or patchy, red, scaling areas on the scalp, which may eventually scar and cause permanent hair loss (Fig. 7-32). Other reported mucocutaneous findings are livedo reticularis (lacy, fishnet appearance of the skin), urticaria, atrophy, and telangiectasia. The presence of livedo reticularis may be the clinician’s only clue to an associated hypercoagulable state

Figure 7-30  Systemic lupus erythematosus. Purpuric, ulcerative, and necrotic skin lesions of cutaneous vasculitis.

manifested by anti-phospholipid antibodies. This tendency can be diagnosed by obtaining a lupus anticoagulant panel, a functional assay that includes a partial thromboplastin time (PTT), anti-cardiolipin antibodies, and anti–β2-glycoprotein antibodies. Although anti-phospholipid antibody syndrome (APS) can occur as an entity alone, it is commonly associated with SLE. APS is defined as a hypercoagulable state characterized by both positive laboratory findings of anti-phospholipid antibodies and clinical findings of a variety of venous and arterial thromboses and recurrent fetal loss. The heart is often significantly involved in patients with lupus. Although the pericardium is involved most commonly, the myocardium and the endocardium may also be of clinical importance. Pericarditis with associated pericardial effusion can be painless and may present only as cardiomegaly on a

Figure 7-32  Systemic lupus erythematosus. Scarring alopecia.



Figure 7-33  Systemic lupus erythematosus. Large pericardial effusion with associated cardiac tamponade physiology in teenage female. Pleural effusions are also present.

chest radiograph (Fig. 7-33) or as pericardial effusion on an echocardiogram. However, chest pain may be noted, especially on deep inspiration and when lying down. Auscultation of a friction rub signifies pericarditis. Although pericarditis is usually mild, it can progress to life-threatening cardiac tamponade. If the myocardium is affected, life-threatening complications including dysrhythmias, heart failure, and infarction can result. Libman-Sacks endocarditis is the term given to the verrucous projections of fibrinoid necrosis in the endocardium. These lesions rarely cause clinical symptoms, although the presence of a murmur raises suspicion of endocardial disease. The mitral valve is most commonly involved, although aortic and tricuspid valves may be similarly affected. The presence of Libman-Sacks endocarditis should also alert the clinician to the possibility of an underlying anti-phospholipid antibody syndrome. The major cardiac morbidity associated with SLE, which is gaining more recognition in the adolescent pediatric SLE population, is premature atherosclerosis. Several factors contribute to the risk of atherosclerosis, including chronic inflammatory processes, altered endothelial function, lipid abnormalities, nephritis, and proteinuria. Monitoring and controlling classic Framingham risk factors in addition to factors attributable to lupus are critical for long-term morbidity. Pulmonary manifestations of lupus are particularly difficult to diagnose noninvasively. Migrating pneumonitis, particularly involving the lung bases, suggests “lupus lung”; however, distinguishing these entities from infection may be impossible without invasive procedures. Typically, patients have atelectasis, pleural effusions, interstitial pneumonitis, or hemorrhage (Fig. 7-34). These sequelae may present as cyanosis, dyspnea, or almost any other form of respiratory distress. Pulmonary arterial hypertension is another manifestation, more commonly seen in those with positive U1 ribonucleoprotein (U1RNP) antibodies or those patients with SLE with features that overlap with systemic sclerosis. An uncommon but welldescribed pulmonary manifestation of SLE is “shrinking lung” syndrome. This is manifested by diaphragmatic involvement and progressively smaller lung volumes recorded by pulmonary function testing. Arthritis is seen in approximately 80% of patients with pSLE and is usually present at the time of diagnosis. Unlike the destructive arthritis of juvenile idiopathic arthritis (JIA), lupus arthritis is more transient and episodic and rarely results in joint contracture. Jaccoud arthropathy, which is a nondeforming, easily reversible, soft tissue arthritis that can mimic the boutonnière (flexion of PIP joints and hyperextension of

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distal interphalangeal [DIP] joints) and swan-neck (hyperextension of PIP joints and flexion of DIP joints) deformities associated with JIA, is strongly associated with the diagnosis of SLE. The fact that arthralgia is more predominant than arthritis has been noted consistently, with the degree of pain out of proportion to the degree of effusion observed at the joint. Any joint may be involved, but the fingers are particularly susceptible and usually affected in a symmetrical polyarticular manner. Myalgia and weakness also occur as features of lupus but do not dominate the clinical picture as they do in dermatomyositis. A true myositis with weakness is seen in less than 10% of patients with SLE. Musculoskeletal manifestations associated with long-term high-dose corticosteroid therapy in SLE are avascular necrosis (AVN), particularly of the hip and knee joints, osteoporosis, and vertebral fractures. CNS signs and symptoms of lupus are a great challenge to physicians. A wide range of neurologic and psychiatric manifestations of the disease have been described. Further complicating the spectrum of CNS lupus is the difficulty in distinguishing the disease itself from side effects of therapy such as corticosteroid psychosis, emotional response to disease, and a non-CNS etiology of CNS pathology such as hypertensive encephalopathy and posterior reversible encephalopathy syndrome (PRESS). Chorea is a neurologic manifestation of lupus that must be distinguished from the chorea of rheumatic fever. Altered mental status and focal neurologic defects occurring in lupus also suggest the possibility of cerebral vascular accident and again alert the clinician to the diagnosis of the anti-phospholipid antibody syndrome. Approximately one quarter of all patients with lupus have some form of CNS disease. If headaches are included in CNS SLE manifestations, then up to 75% of pSLE would be considered to have neurologic involvement. A “true” lupus headache is described as refractory to standard analgesics, requiring narcotic analgesia. Of concern are the more severe, unremitting headaches that may be caused by pseudotumor cerebri, CNS vasculitis, or central vein thrombosis (CVT). The latter is associated with the presence of lupus anticoagulant and is captured on magnetic resonance venogram (MRV). Other CNS and peripheral nervous system findings include mononeuritis, multiplex (inflammatory lesions of multiple nerves located in anatomically unrelated parts of the body), transverse myelitis, ataxia, peripheral neuropathy, seizures, psychosis, and intellectual impairment or “lupus fog.” As a direct extension of the brain, the retina may also show evidence of disease (i.e., retinal vasculitis). The best known ocular manifestation is the

Figure 7-34  Systemic lupus erythematosus. Atelectasis, pleural effusions, and pulmonary infiltrates in a teenage girl.

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A

B

Figure 7-35  Systemic lupus erythematosus. A, A white exudate (cotton-wool spot) between the disk and macula. B, Papilledema with flame hemorrhages.

cotton-wool spot, an exudative, whitish lesion of the retina. Hemorrhage and papilledema are also seen (Fig. 7-35). The CNS effects of lupus are responsible for much morbidity and mortality. The majority of patients will have neurologic symptoms within the first year of onset of disease. Investigation of CNS involvement in SLE typically involves imaging with CT and magnetic resonance imaging (MRI) (Fig. 7-36) as well as analysis of cerebrospinal fluid (CSF) cell count, protein, and opening pressures. Lumbar puncture may show nonspecific findings of elevated white blood cell count (WBC) and protein, but in the absence of infection. The lumbar puncture is typically done to rule out non-SLE causes of CNS disease, especially infection. CSF anti–ribosomal P protein and anti-neuronal antibodies were found in some reports to support active SLE CNS disease, but this remains controversial as some patients without CNS disease have these antibodies. At least as important as CNS disease in determining ultimate prognosis in pediatric SLE is the degree of renal involvement. Approximately 75% of all children with SLE have some degree of clinically apparent renal disease. This is more prevalent than in adult SLE and is more severe. This often manifests itself in the first 2 years of illness but can also appear many years after the initial diagnosis. The type of pathology largely relates to the nature of immune complex deposition at various sites in the kidney (i.e., size and electrical charge of the immune complexes). At a histologic level, renal involvement is classified according to the World Health Organization classification of lupus nephritis (Table 7-8). A pathologic diagnosis must be made in children with rapidly progressive renal problems or change in their renal disease to assist with both the diagnosis and evaluation of the severity of nephritis (i.e., focal vs. diffuse) and the degree of acute and chronic changes to help direct systemic therapy. The most common (and severe) subtype is diffuse proliferative glomerulonephritis (class IV) with the presence of subendothelial deposits on electron microscopy and a “full house” appearance on immunofluorescence (usually signifying C3 and IgG deposition). Other than the glomeruli, the tubules, interstitium, and blood vessels can be involved. In addition to the biopsy, renal serologic and urinalysis parameters, including serum albumin and total protein, microscopic urinalysis for red blood cell (RBC) casts, and 24-hour protein to quantify protein loss are essential to initial diagnosis and monitoring renal disease. Monitoring complement (C3 and C4) and double-stranded DNA (dsDNA) titers is also helpful in diagnosing and predicting lupus renal flares, as they often mirror renal disease activity. Hypertension and peripheral edema are present in approximately one third of pediatric patients with lupus nephritis, and typically are

associated with class III and class IV glomerulonephritis. Control of hypertension is as important as any other therapeutic maneuver in delaying the progression to renal failure and other systemic insults, such as posterior reversible encephalopathy syndrome (PRESS) (Fig. 7-36, C and D). Advances in treatment for SLE nephritis with relatively aggressive immunosuppressive regimens have dramatically improved the renal outcome of children with nephritis in the last few decades, with a recent 5-year survival rate for class IV lupus nephritis of 93%. Hematologic abnormalities are one of the most common initial manifestations of SLE. They are found in three quarters of patients and include leukopenia, anemia, and thrombocytopenia. The “classic” anemia in lupus, or anemia of chronic disease, is normocytic and normochromic, but over time evolves into a microcytic and hypochromic anemia with iron deficiency. The Coombs test is positive in one third of patients, but less than 10% have overt hemolysis. Increase in anemia is frequently seen at times when the patient is experiencing a lupus flare. Thrombocytopenia in lupus is typically mild but can be more severe and refractory to common therapy with intravenous immunoglobulin (IVIG) and corticosteroids. The presence of both anemia and thrombocytopenia, known as Evans syndrome, is not uncommon in SLE. Lymphopenia is much more common than granulocytopenia in SLE, with typical values of the absolute lymphocyte count (ALC) ranging between 1000 and 1500. Wide arrays of gastrointestinal manifestations are found in association with lupus, but are not the leading sources of morbidity. They include hepatosplenomegaly, hepatitis, splenomegaly, serositis, enteritis (direct inflammation of bowel wall), pancreatitis, malabsorption, diarrhea, and abdominal pain. Perhaps more than in any other rheumatic disease, the clinical diagnosis of lupus can be supported serologically. Anti-nuclear antibodies (ANAs) represent a group of antibodies found in serum and are directed against antigens within the cellular nuclei of patients with lupus. ANAs are usually reported as a titer and a pattern. The patterns are either peripheral, homogeneous, speckled, or nucleolar (Fig. 7-37). These patterns are typically associated with antibodies to certain extractable nuclear antigens, such as anti–SS-A, anti– SS-B, Smith, RNP, dsDNA, histone antibody, and Scl-70. Other antibodies found in patients with SLE are listed in Table 7-9. Anti-dsDNA antibodies are detected in 50% to 60% of patients with lupus and are specific for the diagnosis of SLE. As previously mentioned, dsDNA antibody levels correlate with disease activity, especially renal and CNS disease.

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A

275

B

C

D

Figure 7-36  Systemic lupus erythematosus (SLE). A, Axial and B, coronal images of brain with scattered cortical and subcortical foci with T2 prolongation mostly in the posterior white matter (parietal and occipital lobes), but also in some areas anteriorly (frontal lobe). Another abnormality is in the left precentral gyrus (motor area). These abnormalities were found in a teenage male with chorea and newly diagnosed SLE. C, Axial and D, coronal T2 images consistent with posterior reversible encephalopathy syndrome in the same patient 3 months later, associated with a hypertensive crisis.

Ribonucleoprotein (RNP), although better known for its presence in high titers in mixed connective tissue disease, is also seen in low titers in 30% to 40% of patients with lupus. Other SLE antibodies include anti–SS-A and anti–SS-B, also known as anti-Ro and anti-La, respectively, which are associated with Sjögren’s symptoms of dry eyes, dry mouth, and marked

Table 7-8

World Health Organization Classification of Lupus Nephritis

Class

Characteristic

I II IIA IIB III IV V VI

Normal Mesangial Minimal alteration Mesangial glomerulitis Focal and segmental proliferative glomerulonephritis Diffuse proliferative glomerulonephritis Membranous glomerulonephritis Glomerular sclerosis

Modified from Cassidy JT, Petty RE: Textbook of pediatric rheumatology, Philadelphia, 2005, WB Saunders.

cutaneous photosensitivity. Last, the clinician may find antibodies to Smith antigen (Sm), a nonhistone antigen that is most specific for the diagnosis of lupus, but is present only in 30% of patients. Anti-phospholipid antibodies are present in approximately 50% of patients with SLE, with anti-cardiolipin antibody being the most common. The lupus anticoagulant (LAC) panel is abnormal in approximately 20% of patients with pSLE. These antibodies are associated with increased risk for thrombosis, miscarriages, chorea, migraine headaches, and livedo reticularis. In summary, SLE is a chronic disease with a variable course and with periods of varying activity. Although the mortality and morbidity remain high, marked improvement in prognosis has occurred in recent years. Neonatal lupus occurs in infants whose mothers have a connective tissue disease. SS-A and SS-B antibodies of the IgG class are passed via the placenta to the fetus, leading to positive serologies for the infant and systemic manifestations of neonatal lupus including the presence of erythematous annular rash (Fig. 7-38), thrombocytopenia, Coombs-positive hemolytic anemia, liver function abnormalities, and congenital heart block (CHB). The majority of infants with CHB and

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B

A

A C

D

Figure 7-37  Anti-nuclear antibody patterns in systemic lupus erythematosus (SLE). A, Peripheral, nonspecific. B, Homogeneous; correlates with anti-dsDNA active renal disease. C, Speckled; seen with SLE, mixed connective tissue disease (MCTD), and Sjögren syndrome. To further delineate a diagnosis, anti-ribonucleoprotein (RNP) is present in MCTD, and Smith (Sm) antibody is present in SLE (RNP and Sm are “coarse speckled”). Extractable nuclear antigens SS-A and SS-B are associated with Sjögren syndrome (SS-A and SS-B are “fine speckled”). D, Nucleolar; suggests scleroderma associated with Scl-70 antibody.

neonatal lupus have entirely asymptomatic mothers, although a percentage of these women develop Sjögren syndrome rather than SLE. Fortunately, most manifestations of neonatal lupus are transient, lasting only a few months until the disappearance of passively transferred maternal antibody; however, the congenital heart block is permanent because remodeling of the heart conduction tissue occurs from antibody interference in utero during development. Two percent of infants born to mothers with anti-Ro antibodies have CHB, and the addition of anti-La antibodies increases it to 5%. Heart block is treated with pacemakers. Several medications induce a lupus-like syndrome, called “drug-induced lupus,” and their withdrawal leads to resolution of symptoms, usually within 6 months. Many patients taking certain drugs such as minocycline, hydralazine, procainamide, isoniazid (INH), chlorpromazine, or certain anticonvulsants develop a positive result for ANA without developing a lupus syndrome, and this is not an absolute reason to discontinue the medication. Oral contraceptives have also been shown in some studies to be associated with a lupus-like syndrome.

Table 7-9

Antibodies Found in Patients with Systemic Lupus Erythematosus

Antibody

Patients (%)

Native DNA (double-stranded) DNP (DNA and histone protein) RNP (RNA and nonhistone protein) Histones   All patients with SLE   Patients with drug-induced lupus Anti–SS-A (anti-Ro) Anti–SS-B (anti-La) Smith

50-60 Up to 70 (usually high titer) 30-40 60 95 30-40 15 30

DNP, deoxyribonucleoprotein; RNP, ribonucleoprotein; SLE, systemic lupus erythematosus. Modified from Tan EM: Antinuclear antibodies in diagnosis and management, Hosp Pract 18:74-79, 1983.

B Figure 7-38  Neonatal lupus erythematosus. Shown is a newborn on its first day of life: A, typical annular rash and B, tissue infarction of the right ear pinna. Infant and mother were positive for anti-nuclear antibody (ANA) and anti-Ro (SS-A) and anti-La (SS-B) (Sjögren syndrome antibodies). The infant also had thrombocytopenia, hypocomplementemia, and increased transaminases.

SCLERODERMA The term scleroderma literally means “skleros,” sclerosing or hardening, of the “derma,” skin. “Scleroderma” encompasses both forms of the disease: systemic sclerosis (SSc), characterized by skin, vascular, and visceral organ fibrosis, which more commonly affects adults, and localized scleroderma (LS), characterized by fibrosis of skin and underlying tissue without vascular or internal organ involvement, which more commonly affects children. Both are quite rare in children, with the estimated annual incidence of LS being 1 to 3 per 100,000 children and that of SSc being 1 per million. The mean age of onset for both forms of pediatric scleroderma is between 7.3 and 8.8 years of age, although less than 5% of all patients with SSc have pediatric onset, and the majority of patients with LS have childhood onset. The female-to-male ratio of pediatric SSc is 4 : 1 and for pediatric LS it is 2 : 1. There is no clear evidence of racial predilection for either form of pediatric scleroderma.

Systemic Sclerosis Systemic sclerosis (SSc) is a rare but life-threatening condition. There are three main subtypes: diffuse cutaneous SSc (dcSSc), characterized by widespread and rapidly progressive skin thickening (proximal to elbows and knees) and early visceral disease (lung, heart, and kidney); limited cutaneous SSc (lcSSc), characterized by restricted and nonprogressive skin thickening (distal extremities) and late visceral disease (pulmonary arterial hypertension, malabsorption); and overlap SSc, which can be dcSSc or lcSSc with features of another

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A

277

B

C Figure 7-39  Systemic sclerosis. Patients with calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia (CREST) syndrome. A, Raynaud phenomenon (note cyanosis and pallor of the fingertips). B, Sclerodactyly. C, Telangiectasia.

connective tissue disease such as dermatomyositis or SLE. Patients with CREST (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome are considered to have lcSSc (Fig. 7-39). Sclerodermatous skin findings or organ fibrosis can be secondary to another process, such as graft-versus-host disease, or induced by a chemical agent, such as bleomycin (Table 7-10). The autoantibody profile is also helpful in defining subsets of SSc and predicting their organ involvement (Table 7-11). The frequency of these autoantibodies in pediatric SSc also reflects the frequency of clinical subsets. In general, overlap SSc is much more common in pediatric SSc (30% vs. 7% in adult SSc), as reflected by the increased frequency of PM-Scl and U1-RNP antibodies, and is related to the higher percentage of myositis and arthritis observed in pediatric SSc. Another direct clinical correlation is the paucity of severe renal disease in pediatric SSc compared with adult SSc, which is reflected by the low RNA polymerase III antibody in childhood SSc (see Table 7-11). Common features at the onset of pediatric SSc are Raynaud phenomenon (RP) (70%) and skin changes of hands (60%) including edema, sclerodactyly, and induration proximal to MCP joints. In the largest cohort study of pediatric SSc patients (total, 153), 53% presented with both skin induration of hands and RP, and 10% of those presenting with RP also had digital infarcts. Raynaud phenomenon (see Fig. 7-39, A) is a vasospastic response leading to a triphasic color change of the hands (first white because of vasoconstriction, then blue secondary to cyanosis, and finally red because of reper­ fusion with subsequent swelling and pain) associated with a sensation of numbness and tingling. Healthy individuals can also experience the color changes of Raynaud without being at risk for developing an underlying connective tissue disease. In SSc, RP is more pronounced and can lead to tissue damage due to a more fixed vasospasm. This occurs because there is an underlying vasculopathy that causes endothelial damage, resulting in more narrow and stiff arterioles. These

vasculopathic changes are identifiable in the nail fold capillary beds of these patients by capillary microscopy, demonstrating dilation, tortuosity, hemorrhage, drop-off, and later arborization of the capillaries (Fig. 7-40). Poor perfusion of the fingers eventually leads to digital tip pitting, ulceration (Fig. 7-41), and, in more severe cases, autoamputation. Features that help the clinician differentiate primary Raynaud phenomenon from that secondary to a connective tissue disease are the following: lack of nail fold capillary changes, digital tip pitting and/or ulceration, and a negative ANA. These features combined have a negative pre­dicative value of 90% of developing a connective tissue disease. Cutaneous manifestations frequently bring children to medical attention, but because of the insidious and subtle onset of skin changes, there is often a delay in diagnosis, with a mean time of 1.9 years between first sign of disease and diagnosis. Early in the clinical course, the skin is edematous with particular predilection for the distal extremities; rarely, more proximal limb, face, and trunk involvement is present. The induration phase, for which scleroderma is named, is characterized by loss of the natural pliability of the skin and the presence of a palpable skin thickness. The skin takes on a shiny, tense appearance, with distal tapering of the fingers (Fig. 7-42). The visual impression that movement might be impaired is supported by the lack of flexibility in the hands (Fig. 7-43). The typical scleroderma facies of tight skin and skin atrophy produces the appearance of a fixed stare, pinched nose, thin pursed lips, small mouth, prominent teeth, and characteristic grimace (Fig. 7-44). Subcutaneous calcium deposits (calcinosis cutis) may occur at pressure points, typically found on the extensor surfaces of hand joints in SSc, and may occasionally extrude through the skin in a fashion similar to dermatomyositis (see Fig. 7-62 in the section Juvenile Dermatomyositis). These lesions may be painful and may ulcerate. However, they are more typically associated with chronic disease and will not be present at the time of disease onset and diagnosis. Telangiectasias are also a manifestation of SSc, most typically found in the lcSSc variant (previously known

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Table 7-10

Classification of Scleroderma and Related Disorders

Table 7-11

Primary Systemic sclerosis Diffuse cutaneous scleroderma Limited cutaneous scleroderma (CREST syndrome) Overlap Localized scleroderma Plaque morphea (circumscribed superficial*) Generalized morphea Deep morphea Subcutaneous morphea (circumscribed deep*) Eosinophilic fasciitis Linear scleroderma Extremity/trunk Scalp/face: en coup de sabre Pansclerotic Mixed morphea (any combination of two or more of the above subtypes*) Diseases with Sclerodermatous Manifestations Graft-versus-host disease Drug or chemical induced Vinyl chloride Bleomycin Pentazocine Tryptophan Silicone Toxic oil syndrome Phenylketonuria Progeria Werner syndrome Scleredema Porphyria cutanea tarda Diabetic cheiroarthropathy† *According to Padua preliminary classification criteria, 2004. † Arthropathy of the hand. CREST, calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia.

as CREST syndrome), with a “matted” appearance and commonly distributed on the face and upper extremities (see Fig. 7-39, C). Other organ manifestations in SSc (in order of decreasing frequency) include gastrointestinal, pulmonary, musculo-

Figure 7-40  Systemic sclerosis. Nail fold capillary changes (original magnification, ×10), enlarged capillary loops, and capillary dropout.

Clinical and Laboratory Characteristics of Patients with Systemic Sclerosis According to Serum Autoantibody Type

Autoantibody

Pattern

RNA Pol III

Centromere Th/Tho

Speckled nucleolar Speckled nucleolar Centromere Nucleolar

U3-RNP

Nucleolar

U1-RNP

Speckled

PM-Scl >1 antibody Positive for ANA, but none of the above Negative for ANA

Nucleolar

Topo (Scl-70)

Clinical Association dc, severe skin, renal dc, ILD lc, intrinsic PAH lc, ILD, intrinsic PAH dc = lc, myopathy, cardiomyopathy, PAH Overlap, myositis, ILD Overlap, myositis

Children (%)

Adults (%)

4*

32

20

21

16* 3

4 3

5

2

16*

4

14* 8* 20*

5 2 11

3

2

*Significantly different between groups. ANA, anti-nuclear antibody; dc, diffuse cutaneous; ILD, interstitial lung disease; lc, limited cutaneous; PAH, pulmonary arterial hypertension; PM-Scl, polymyositis-scleroderma; Pol, polymerase; RNP, ribonucleoprotein; Scl, scleroderma; Scl-70, anti-topoisomerase. Modified from Scalapino K, Arkachaisri T, Lucas M, et al: Childhood onset systemic sclerosis: classification, clinical and serologic features, and survival in comparison with adult onset disease, J Rheumatol 33:1004-1013, 2006.

skeletal, cardiac, renal, and neurologic. Gastrointestinal (GI) symptoms occur in approximately half of the children. More detailed investigation often indicates the presence of abnormalities in a larger percentage. Esophageal dysmotility associated with gastroesophageal reflux often leads to dysphagia and symptoms of esophagitis. Distal dysphagia, especially with solids, with a sensation of “food getting stuck” mid-chest is typical and represents dysfunction of the distal smooth muscle of the esophagus. In some affected individuals, aspiration or cough may occur and esophageal strictures can develop if the process of reflux is chronic. If the small bowel is involved, cramps, diarrhea, and constipation may result from peristaltic dysfunction. Episodes of pseudo-obstruction with postprandial abdominal distention, pain, and nausea can occur because of a functional ileus. Bacterial overgrowth, steatorrhea, weight loss, volvulus, and even perforation can occur. Colonic disease occurs in the form of wide-mouth diverticula and a loss of the normal colonic architecture. Another complication of GI involvement with SSc is acute GI bleeding associated with gastric antral venular ectasia (GAVE) requiring photocoagulation. This condition is uncommon in children and is associated with early dcSSc, RNA polymerase III–positive patients. Pulmonary involvement in pediatric SSc is described in the literature as ranging from 30% to 70% and includes interstitial lung disease (ILD) (Fig. 7-45), pulmonary arterial hypertension (PAH) (either primary or intrinsic from vasculopathy or secondary from ILD), and abnormal pulmonary function test (PFT) results (decreased forced vital capacity [FVC] and diffusing capacity of the lung for carbon monoxide [DlCO]). ILD typically presents as slowly progressive dyspnea with exertion over years and is associated with decreased FVC and a reticular–nodular (ground glass) pattern on chest CT examination. PAH, on the other hand, presents as a rapid progression of dyspnea on exertion over months with decreased DlCO on PFTs, and an abnormal echocardiogram with estimated

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A

279

B

Figure 7-41  Systemic sclerosis. Digital pitting ulcers (A, early disease; B, late disease) represent one of the three minor diagnostic criteria for scleroderma.

Figure 7-42  Systemic sclerosis. Sclerodactyly and tapering of digits. Note the thickened cuticle tissue.

pulmonary artery (PA) or RV systolic pressure greater than 40 mm Hg, verified by right heart catheterization, with mean PA pressure greater than 25 mm Hg. Musculoskeletal involvement is more common in pediatric SSc, with inflammatory arthritis (joint effusions) in addition to the typical “dry synovitis” of scleroderma, which is reflected by the fibrosis of tendons traversing the joints, limiting their range of motion (ROM). Early in the disease process, especially among those with dcSSc, tenosynovitis/bursitis causes palpable tendon friction rubs when the joint is extended or flexed (patients claim Figure 7-44  Systemic sclerosis. Facial features show that the skin appears tight and drawn, without evidence of wrinkles. (Courtesy J. Jeffrey Malatack, MD, Philadelphia.)

Figure 7-43  Systemic sclerosis. Lack of flexibility in the hands is another characteristic of scleroderma.

Figure 7-45  Systemic sclerosis. Bilateral pulmonary fibrosis.

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A

B

Figure 7-46  Localized scleroderma. A and B, Active-phase lesions have an inflammatory border or “lilac ring.” (B, Courtesy Elena Pope, Hospital for Sick Children, Toronto, ON, Canada.)

it feels like a creaking door). When the patient has myopathy, typically there is a symmetrical proximal weakness, especially of the shoulder girdle and humeral muscles, with pronounced atrophy at times. Myositis is also reflected by elevated muscle enzymes and changes on MRI similar to that of juvenile dermatomyositis (JDM). The muscle biopsy differs from that of JDM by having more fibrosis and by the presence of thickened capillaries. Myositis in SSc increases the risk of cardiac involvement from 10% to 20%. Cardiac involvement includes heart block, arrhythmia, congestive heart failure, electrocardiographic changes, and pericardial effusion. These abnormalities appear to be a result of myocardial fibrosis, vascular insufficiency, and inflammation. Cardiac involvement is the leading cause of death in pediatric SSc, whereas morbidity and mortality in adults with scleroderma are usually related to hypertension and renal failure. Before the advent of angiotensinconverting enzyme inhibitors, adult SSc patients with scleroderma renal crisis (SRC) had a 1-year survival rate of 20%; it is now 80%. SRC is most frequently seen early in the disease course of RNA polymerase III–positive patients with dcSSc and is characterized by accelerated hypertension and its sequelae, in addition to a clinical profile including thrombocytopenic purpura. Despite all the potential organ involvement of pediatric SSc, in general the frequency of severe organ involvement is less than in adult SSc and it is associated with a more favorable prognosis, with 5-, 10-, and 15-year survival rates in children (89%, 85%, and 80%, respectively) compared with adults (75%, 55%, and 35%, respectively). Treatment of SSc is dependent on organ involvement but includes general measures such as GI protection with antacid medication, promotility agents, vasodilators for Raynaud (may help with PAH), NSAIDs, and physical therapy for arthritis or tendinitis. Corticosteroids for myositis, arthritis, and other inflammatory clinical features must be used with caution as they can prompt SRC.

made (see Table 7-10). This group of disorders is characterized by fibrosis that is confined mainly to the skin and subcutaneous tissue; however, deeper forms also involve the fascia, muscle, tendon, and joint capsule. As in SSc, there is an earlier, more active phase of disease followed later by a fibrotic phase. Early active lesions are characterized by a violaceous inflammatory border or “lilac ring” (Fig. 7-46) and skin induration throughout the lesion, including the border. The lesions also expand and new lesions accumulate when the disease is in an active state. Over time disease damage accumulates and is represented by an increase in skin thickness, especially at the center of the lesion, sometimes leaving an ivory-colored sclerotic center (Fig. 7-47). Dermal and subcutaneous atrophy result from previous inflammation and subsequent collagen deposition. Clinically, when the dermis is atrophic there is a lack of hair growth at the site of the lesion, visible veins, and a slight “cliff drop” appearance to the skin (Fig. 7-48). Subcutaneous atrophy is identified as a flattening of the skin in mild cases to a more “scooped out” concavity appearance of the adipose tissue in more severe lesions, to such a point that one can see the muscles moving underneath the skin (Fig. 7-49). Postinflammatory hyper- and hypopigmentation also are a result of previous inflammation and are the most notable features that bring the lesion to the attention of a medical provider (Fig. 7-50). Often families will miss the early, active phase and consider the erythema/violaceous color more of a bruise or injury; it is the “bruise that does not go away”

Localized Scleroderma Localized scleroderma, also known as “morphea,” has a different pattern of skin involvement than systemic sclerosis (SSc) and encompasses several subtypes, including plaque morphea, generalized morphea, bullous morphea, linear scleroderma, deep morphea, and pansclerotic morphea. Traditional classification of these subtypes is based on the Mayo criteria, but more recently a few modifications have been

Figure 7-47  Localized scleroderma. Pale and thickened sclerotic center of lesion on the wrist.

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281

Figure 7-50  Localized scleroderma. “Salt-and-pepper” appearance of a plaque in a patient with localized scleroderma. Note the hyperpigmentation within the hypopigmented lesion.

Figure 7-48  Localized scleroderma (LS). Dermal atrophy of LS, demonstrated by “cliff drop” lesions and visible veins in a teenage female with generalized morphea.

(postinflammatory hyperpigmentation) that is brought to medical attention. At times these patients see hematologists first for a possible bleeding disorder. Linear scleroderma occurs on the extremities, trunk, or head, and is the most common subtype that occurs in children (50% to 60%), typically as a single, linear unilateral band (Fig. 7-51). Legs are the most commonly involved sites, followed by arms, frontal head, and trunk. When the limbs are involved, sclerosis of the muscle, tendon, and joint capsule may result in contracture across the joints and limb dysfunction with decreased ROM, leg length discrepancy, and antalgic gait. Involvement of the epiphyseal growth plate can alter growth, leading to permanent shortening or atrophy of the limb (Fig. 7-52). Linear lesions involving the scalp and

A

B Figure 7-49  Localized scleroderma. A, Subcutaneous atrophy, moderate atrophy (divot or “scoop out” lesion) in a toddler. B, More severe subcutaneous atrophy of the right buttock, leaving the buttocks asymmetric.

Figure 7-51  Localized scleroderma. Linear scleroderma affecting the right lower extremity, the most common site.

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A

C

B

Figure 7-52  Localized scleroderma. A and B, Linear form of scleroderma affecting the right lower extremity of two children. C, Linear scleroderma affecting the entire left side of the body. Note the extensive atrophy.

A

C

B

Figure 7-53  Localized scleroderma. Linear scleroderma of the scalp and face: en coup de sabre. A, Teenage female with single lesion. B and C, Two views of a young girl with two linear lesions of the face and scalp with associated scalp ulceration and crust.

forehead are termed en coup de sabre (ECDS) because the linear depression resembles a saber wound scar (Fig. 7-53). The linear lesions of the face may progress to hemifacial atrophy, termed Parry-Romberg syndrome (PRS), in which hemiatrophy of the mandible, maxilla, tongue, and subcutaneous and muscle tissue may be apparent (Fig. 7-54). Certain extracutaneous manifestations are more common in patients with ECDS/PRS, including headache, uveitis, seizures, and transient ischemic attacks. Plaque morphea is the most common presentation of LS in adults (60%) and accounts for approximately one quarter of LS in children. It is characterized by one or a few oval or rounded areas of induration, ranging from 1 to 30 cm in diameter. They typically arise on the trunk or proximal extremities (Fig. 7-55). Generalized plaque morphea is defined as three or more plaque lesions that are greater than 3 cm wide each. Typically the plaques become confluent and affect several anatomic areas; the trunk is the most common (Fig. 7-56). Deep or subcutaneous morphea may have only subtle cutaneous changes, such as slight erythema and thinning of the dermis, but a great deal of inflammatory infiltrate in deep subcutaneous tissue and fascia, causing a great depression in the adipose tissue (“scooped out” appearance) and thickened,

A

B

Figure 7-54  Localized scleroderma. A and B, Frontal and side views of ParryRomberg syndrome affecting the right side of the face.

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Figure 7-55  Localized scleroderma. Large plaque morphea lesion of chest/ abdomen in a young male.

A

B

Figure 7-56  Localized scleroderma. Generalized morphea in A, an AfricanAmerican female (unaffected skin is lighter) and B, a white female.

bound-down skin (see Fig. 7-49). Many consider eosinophilic fasciitis a type of deep morphea; however, it often behaves as a mixture of deep morphea and linear scleroderma, resulting in deep infiltration and joint contractures. Pansclerotic morphea of childhood is a rare subset of LS, affecting only 1% to 2% of children with LS, and it is typically disabling. It affects the extremities first and sometimes migrates to the trunk, sparing only the face and distal areas of the fingers and toes (Fig. 7-57). There is a rapidly progressive fibrosis of the deep dermis, subcutis, fascia, and muscles, with occasional

Figure 7-57  Localized scleroderma. Pansclerotic morphea. Note that the distal toes are spared. Diffuse joint contractures are the result of progressive fibrosis.

283

bone involvement, which leads to significant contracture of joints, muscle atrophy, cutaneous ulcerations, and sometimes restrictive pattern respiratory insufficiency if the trunk is involved. Another rare subtype is bullous morphea; however, many experts agree that the bullous lesions are secondary to aggressive linear or deep LS disease. A final subtype that is now viewed as its own category is mixed morphea, which is seen in approximately 15% of the pediatric LS population. The most common presentation of mixed morphea is a combination of linear and generalized morphea occurring in the same patient. Patients with LS sometimes present with extracutaneous manifestations. These manifestations occur in approximately one fifth of the patients throughout the course of disease, are more frequent in patients with linear scleroderma, and consist essentially of orthopedic complications (rate of occurrence for the entire group, 19%; for those with linear scleroderma of the extremities, 50%), neurologic or ocular findings (entire group, 5%; linear scleroderma of the head, up to 40%), and other autoimmune conditions such as thyroiditis (all subtypes, 2%). Intensive physical and occupational therapy in conjunction with systemic immunosuppressive therapy is recommended for those with linear scleroderma of the extremities to help avoid joint contractures and leg length discrepancy. Routine screening of all patients with LS by ophthalmology is recommended, but especially for those with linear scleroderma of the head, as “silent” uveitis occurs and has clinical outcomes similar to those of JIA. No laboratory test exists to diagnose linear scleroderma. Although a “localized” disease, several autoantibodies have been associated with the disease. ANA positivity was found in 42% of a large pediatric LS cohort. Anti-histone antibodies (AHAs) have been detected in 47% of patients with LS, with a higher prevalence in the generalized morphea (GM) group. Single-stranded DNA (ssDNA) antibodies have been reported in 50% of patients with linear scleroderma, and were associated with more extensive GM. Rheumatoid factor is present in one third of patients, particularly those who have GM, and correlates with disease severity (as determined by the number of lesions). General markers of inflammation, including sedimentation rate and serum immunoglobulin levels, may be useful markers of disease activity in select patients with localized scleroderma; however, the majority of patients present with active LS lesions without elevation of these markers.

MIXED CONNECTIVE TISSUE DISEASE A syndrome characterized by features of rheumatoid arthritis, scleroderma, SLE, and dermatomyositis and associated with high-titer anti-RNP antibodies was first described in 1972 and termed mixed connective tissue disease (MCTD). Clinical characteristics of MCTD in children are summarized in Table 7-12. The most common presentation encountered in our experience is the combination of Raynaud phenomenon, swollen hands with mild sclerodactyly, polyarthritis, mild myositis, and gastroesophageal reflux disease (GERD). Cardiopulmonary disease and esophageal dysmotility are common in MCTD; nephritis occurs but is less common and is usually less severe than in SLE. Regarding pulmonary disease, both interstitial lung disease and pulmonary arterial hypertension can occur and should be screened for by chest x-ray, echocardiography (for PAH), and pulmonary function tests including a DlCO test. Further evaluation is warranted with a high-resolution CT scan of the chest if interstitial lung disease is suspected and with right heart cardiac catheterization if PAH is suspected. Anti–U1-RNP antibodies are strongly associated with the diagnosis of MCTD. High-titer positive

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Table 7-12

production and saliva production. An additional recognizable feature is photosensitivity with an erythematous rash appearing at sun-exposed areas. Serologically, this syndrome typically features a positive result for anti-nuclear antibody, with specific extractable nuclear antigen antibodies to Ro (SS-A) and La (SS-B). Diagnosis is supported by objective evidence of decreased tear flow, using Schirmer test. Lip biopsy demonstrating a periductal lymphocytic infiltrate confirms the diagnosis. Adults with Sjögren syndrome are at a higher risk to develop lymphoma.

Clinical Characteristics of Children with Mixed Connective Tissue Disease

Characteristic

Patients (%)

Arthritis Raynaud phenomenon Thickened skin of scleroderma Rash of SLE Rash of DM Fever Abnormal esophageal motility Cardiac Pericarditis Myositis CNS disease Pulmonary Renal

93 85 49 33 33 56 41 30 27 61 23 43 26

JUVENILE DERMATOMYOSITIS

DM, dermatomyositis; SLE, systemic lupus erythematosus. Modified from Cassidy JT, Petty RE: Textbook of pediatric rheumatology, Philadelphia, 2001, WB Saunders.

anti-nuclear antibody (ANA) is common. Rheumatoid factor (RF) may also be present. The outcome and course of children with MCTD is variable. Sick children with MCTD often experience cardiopulmonary or renal complications.

SJÖGREN SYNDROME A syndrome commonly associated with systemic lupus erythematosus in children is Sjögren syndrome, characterized by keratoconjunctivitis and xerostomia due to decreased tear

A

C

Juvenile dermatomyositis (JDM) is a rare but distinctive disease that accounts for approximately 5% of all rheumatic disease in childhood. Although its exact etiology remains unknown, evidence supports the involvement of both the innate and adaptive (humoral and cell-mediated) immune system contributing to a vasculopathy, primarily affecting the skeletal muscle and skin. This results in the classic clinical skin findings and nonsuppurative myositis observed in JDM. Dermatomyositis affecting the adult generally carries a worse prognosis than that encountered in the pediatric age group. There is no association with malignancy in patients with JDM, although it appears to be a paraneoplastic syndrome in certain adult populations. Nevertheless, childhood dermatomyositis has a higher incidence of vasculopathy with intimal proliferation of small blood vessels, thrombosis, and sometimes infarctions, which may lead to tissue damage, such as permanent ulcerations of the skin (Fig. 7-58). Despite the potential severity of JDM, the majority of children who are treated by immunosuppression have a good outcome with favorable prospects for normal school and work performance.

B

D

Figure 7-58  Juvenile dermatomyositis. A, A 3-year-old girl with a vasculitic facial rash. Note the heliotrope hue and ulcerations. B, Ulcerations of the right ear and lateral to the eye (common sites). C, Ulcerations lateral to the left eye. Note the deep red/violaceous hue of the rash. D, Deep ulceration of the axilla, with ischemic tissue.

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A

285

B

C Figure 7-59  Juvenile dermatomyositis (JDM). A, Gottron papules: Erythematous, atrophic skin changes overlying the metacarpophalangeal and proximal interphalangeal joints. B and C, Typical rash of JDM, as seen on B, the knees and C, the elbow.

Although the age range for JDM is broad, presentation of the disease is usually between ages 4 and 10 years, with onset of disease at less than 5 years of age in 25% of the patients. Girls predominate by a 2 : 1 ratio. No racial bias exists, nor is there any evidence of a familial predisposition. Clinically, patients usually have fatigue and symmetrical, progressive, proximal muscle weakness, particularly affecting the limb-girdle musculature (shoulders and hips), anterior neck flexors, and trunk muscles. Although painless weakness is the hallmark of the disease, myalgia can exist with tender, indurated, and edematous-appearing muscles. The first complaints often concern an inability to climb stairs and disturbances of gait. Although shoulders and arms are often involved, this may not be detected as easily in a child. A positive Gowers sign on physical examination (see Fig. 7-1) reflects proximal muscle weakness. Dysphasia, dysphonia, and dyspnea may occur if the respective muscles for these functions are affected. Other musculoskeletal manifestations include arthralgia and arthritis, affecting more than half of patients, typically early in the disease course; these are responsive to typical JDM immunosuppression. However, there are a minority of patients who develop long-term flexion contractures secondary to muscle tightening. Cutaneous manifestations of JDM include the pathognomonic rashes, that is, Gottron’s papules and heliotrope eyelid rash, which are found in more than three quarters of patients with JDM and can confirm the diagnosis. Gottron’s papules are found symmetrically on the extensor surfaces of the knuckles (MCP, PIP, and DIP joints), elbows, and knees. They are characterized as flat-topped, erythematous or violaceous papules sometimes with associated scale (Fig. 7-59). The heliotrope rash, which is violaceous and telangiectatic, over the upper eyelids often is associated with edema of the eyelids and face, and may be confluent with a malar type of erythematous rash distributed over the cheeks and nose (Fig. 7-60). The JDM malar rash is different from that of SLE by being more diffuse, ill-defined, and typically not sparing the nasolabial folds. However, it is similar regarding the degree

of photosensitivity. The cutaneous vasculopathy of JDM is most visible at the nail fold capillaries, with capillary loop dilation, hemorrhage, drop-out, and telangiectasias (Fig. 7-61). Adjacent periungual erythema, with thickened cuticle hypertrophy and periungual infarcts, further reflects vasculopathy.

A

B Figure 7-60  Juvenile dermatomyositis. The facial rash shows heliotrope discoloration and violaceous suffusion with edema of the eyelids. Note the faint malar blush in patient A and diffuse light erythematous rash of the face, including the forehead and not sparing nasolabial folds, in patient B.

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Figure 7-61  Juvenile dermatomyositis. Nail bed telangiectasia. Erythema can be seen around the nail edge. The pinpoint telangiectasia may require a magnifying lens to identify.

Other areas that commonly ulcerate because of vasculopathy are the corners of the eye (see Fig. 7-58), in the axilla, and over the elbows. Calcinosis (nodular calcium deposits) of the skin, subcutaneous tissue, and muscle is another characteristic cutaneous complication of JDM. It is more common in those with long-standing, untreated, severe disease (Fig. 7-62). Pressure points and severely affected soft tissue are particularly susceptible. These calcium deposits can be inflammatory, causing pain and eruption through the surface of the skin, and

A

C

can contribute to joint contractures. Last, lipodystrophy is another cutaneous finding that is representative of disease damage from long-standing and/or uncontrolled JDM (see Fig. 7-62, C and D). Lipodystrophy results from the slow, progressive loss of subcutaneous tissue, typically symmetrically distributed in the upper body, and is associated with glucose and lipid metabolism abnormalities. JDM can exist with skin involvement only, and skin involvement can predate muscle involvement by months to years. Because of the pathognomonic features of the rash, the diagnosis of JDM can often be suspected before overt symptoms occur. Constitutional symptoms such as anorexia, malaise, weight loss, fever, and irritability (in young children) may be present. The illness may progress at variable rates in different patients; however, the majority of patients have a more insidious rather than acute course. Unfortunately, long delays in diagnosis can occur, particularly in the insidious group. Other, more uncommon findings include mouth ulcers, retinitis, hepatosplenomegaly, pancreatitis, vasculopathy of the gastrointestinal tract leading to ulceration, bleeding, or perforation (Fig. 7-63), respiratory muscle weakness with a restrictive pattern on lung function studies, decreased lung diffusion capacity associated with interstitial lung disease, aspiration pneumonitis from pharyngeal muscle weakness, myocarditis, and pericarditis. To screen for some of these abnormalities, clinicians will often perform certain examinations on recently diagnosed patients, including a swallow study with an upper GI and small-bowel followthrough radiographic studies, chest radiograph, electrocardiogram and echocardiogram, and pulmonary function tests with a DlCO test. Elevated muscle enzymes may be the first clue to the diagnosis of inflammatory muscle disease. Creatine kinase, aspartate transaminase, alanine aminotransferase, aldolase, and lactate dehydrogenase should be checked serially because they can be useful in monitoring disease activity. Not all of the aforementioned muscle enzymes may be elevated in the setting of floridly active myositis. Serum neopterin, reflective of macrophage activation, is another marker of disease activity in dermatomyositis. An elevated serum von Willebrand factor

B

D

E

Figure 7-62  Juvenile dermatomyositis (JDM). Six-year-old male with chronic JDM and poor compliance. A, Calcinosis surrounding the right knee after years of untreated disease. B, Calcium deposits, right knee, after 2 months of intensive therapy. C, Sacral calcium deposits (untreated for years); note lipodystrophy of the buttocks from chronic unopposed disease activity. D, Sacral calcinosis after 2 months of immunosuppressive therapy. E, Radiologic evidence of soft tissue calcification in the same patient.

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attributable mostly to the corticosteroid effect. Severe disease with vasculitis/vasculopathy of the lungs, skin, and gastrointestinal or nervous system will typically require the addition of IVIG and/or cyclophosphamide. Early and aggressive therapy is often the key to halt disease and prevent further disease damage, such as muscle atrophy, calcinosis, and skin ulcerations.

SYSTEMIC VASCULITIDES

Figure 7-63  Juvenile dermatomyositis. Computed tomographic scan of the abdomen demonstrates bowel wall thickening and edema in the transverse colon. The patient’s bowel eventually perforated because of active vasculitis.

antigen level is thought to be a measure of endothelial cell damage due to vasculitis. Magnetic resonance imaging, specifically T2-weighted imaging with fat suppression, is quite sensitive in detecting even subclinical myositis (Fig. 7-64). In the setting of a child with muscle weakness, Gottron’s papules, elevated muscle enzymes, and abnormal muscle MRI, most clinicians choose to make the diagnosis of JDM and initiate therapy without a muscle biopsy or electromyography (EMG), which were previously performed as a standard for diagnosis but are more invasive and painful and are used less commonly today (usually in patients who do not have the typical rash). Corticosteroids in conjunction with methotrexate and hydroxychloroquine are the mainstay of therapy. The initial clinical efficacy of treatment, with reduced rash and gain of muscle strength within days to weeks of treatment, is

The vasculitides are a broad group of disorders with a common pathology characterized by blood vessel inflammation. The type of inflammation, organ system affected, and size of the vessels affected vary with each disease entity. A classification of the systemic vasculitides based on the size of the blood vessels involved is noted in Table 7-13. Further classification is made on the basis of the presence or absence of antineutrophil cytoplasmic antibodies (ANCAs) and granulomas. Nonspecific generalized findings are present in the initial inflammatory state, such as fever, fatigue, weight loss, elevated acute-phase reactants, and failure to thrive. For many of the vasculitides, it is not until later in the disease process, after vessel damage has accumulated from chronic inflammation, that the diagnosis become more evident, reflecting vascular compromise. For example, involvement of the large vessels of the extremities leads to claudication, bruits over the site of involvement, and skin ulcerations distally on physical examination, whereas arterial insufficiency of the visceral vessels causes hypertension (renal arteries), abdominal pain and melena (mesenteric arteries), chest pain (coronary arteries), or neurologic deficits (mononeuritis multiplex). Fortunately, the two more common forms of vasculitis in children,

Table 7-13

Classification of Vasculitis by Vessel Size

Large-Vessel Vasculitis Giant cell arteritis (seen in adults only) Takayasu arteritis Medium-Vessel Vasculitis Kawasaki syndrome Polyarteritis nodosa (PAN) Primary granulomatous central nervous system vasculitis Small-Vessel Vasculitis (ANCA Associated) Microscopic polyangiitis Wegener granulomatosis Churg-Strauss syndrome Drug-induced Small-Vessel Vasculitis (Immune Complex Associated) Henoch-Schönlein purpura Essential cryoglobulinemic vasculitis Hypocomplementemic urticarial vasculitis Vasculitis with lupus, rheumatoid arthritis, or Sjögren syndrome Behçet syndrome Goodpasture syndrome Serum sickness Drug-associated Infection-associated

Figure 7-64  Juvenile dermatomyositis. Magnetic resonance imaging of the thigh (T2-weighted image with fat suppression) illustrates marked diffuse muscle edema and inflammation. Note the patchy white area in muscle similar in appearance to fluid in the bladder.

Small-Vessel Vasculitis (Paraneoplastic) Lymphoproliferative Myeloproliferative Carcinoma Small-Vessel Vasculitis (Inflammatory Bowel Disease) From Jennette JC, Falk RJ: Small-vessel vasculitis, N Engl J Med 337:1512, 1997.

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B

A

Figure 7-65  Henoch-Schönlein purpura. A and B, Rash characteristically involves the lower extremities, with purpuric coalescent lesions.

Kawasaki disease (KD) and Henoch-Schönlein purpura (HSP), typically do not result in chronic arterial insufficiency and have a more recognizable acute inflammatory state that typically resolves in a period of weeks to months. These conditions are discussed at length in the following sections, and the others are briefly described.

Henoch-Schönlein Purpura Henoch-Schönlein purpura (HSP) is a small-vessel leukocytoclastic vasculitis mediated by IgA immune complex deposition with clinical manifestations of nonthrombocytopenic palpable purpura, arthritis, bowel angina, and renal abnormalities. Although HSP is associated with serious potential complications of the gastrointestinal tract and kidneys, the majority of cases are mild and self-resolve within weeks. Ninety percent of cases occur in children younger than 10 years of age, with the median age being 5 years. Children younger than 2 years of age generally develop milder disease with less frequent gastrointestinal and renal involvement. This syndrome may or may not occur after an identifiable trigger such as viral illness, bacterial infection, insect bite, dietary allergen, immunization, or medication usage. Seasonal peaks occur in fall and winter, suggesting an infectious trigger, but a definite etiology remains elusive. A familial predilection does not appear to exist, and all races have been affected. The clinical picture of HSP is that of a previously well child who acutely develops a distinctive skin rash, arthritis, and abdominal pain. The skin rash allows for definitive diagnosis, and hence it is said to occur in all patients with HSP. Fifty percent of patients present with rash, which usually involves the buttocks and lower extremities (waist-down distribution) (Fig. 7-65). The lesions begin as petechiae or red macules that coalesce and become confluent with nearby lesions to form purpuric plaques and patches that are nonblanching. Typically, various stages of eruption are simultaneously present. Some patients have lesions that mimic urticaria. Pruritus can be a feature of the rash, and about 25% have subcutaneous edema. The edema is nonpitting, painless, evanescent, and most commonly affects the hands (Fig. 7-66, B) and feet. The child younger than 2 years of age is most likely to have edema as a feature of this illness. The younger child is also more likely to display facial involvement (see Fig. 7-66, A and C). Infants tend to have the rash on face, ears, sacrum and buttocks, whereas older children tend to have the rash on the buttocks and lower legs because gravity causes the IgA immune complexes to deposit and incite inflammation in dependent areas. A similar-appearing purpuric skin manifestation associated with edema in infants is acute

hemorrhagic edema of infancy (AHEI) (Fig. 7-67). Although the appearance of the rash is quite concerning, the child appears well, typically does not have any internal organ involvement, and the condition self-resolves within weeks. Skin biopsy of AHEI would support a leukocytoclastic vasculitis, mainly of the venules, but without IgA deposition as seen in HSP. HSP does have internal organ vasculitis, most notably intestinal and renal. Approximately 85% of patients display some gastrointestinal symptoms. Simple colicky abdominal pain can be the only symptom, but its severity can raise physician concerns about more threatening abdominal complications.

A

C

B Figure 7-66  Infant with Henoch-Schönlein purpura (HSP). A, The rash may occur on the face along with edema. B, Rash and edema may be present in the extremities. C, Ulceration and vesicles are an unusual manifestation of HSP.

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A

B Figure 7-67  Acute hemorrhagic edema of infancy. A, A 15-month-old male with classic annular, medallion-like, and targetoid-shaped purpuric lesions on the leg, and B, the face (including auricles).

Massive gastrointestinal hemorrhage, intussusception (typically ilio-ileal), and perforation are potential serious complications; however, they occur in less than 5% of patients. More common manifestations are melanotic stools, vomiting, ileus, and hematemesis. Pancreatitis, cholecystitis, and proteinlosing enteropathy have also been described. In rare circumstances abdominal pain precedes the rash, making it difficult to distinguish appendicitis and other acute abdominal conditions from HSP. The periarticular swelling that occurs presents as arthritis or arthralgia and is a part of HSP in three quarters of reported cases. Knees and ankles are the most common sites of involvement. Warmth and erythema are not usually associated with the pain and swelling that occur. The joints are not affected permanently, and this feature of HSP generally resolves in several days. As with the gastrointestinal symptoms, arthritis can precede the rash. For this reason, HSP should be considered in the child with acute onset of arthritis. Renal involvement is detected in about one half of patients with HSP and typically occurs early in the disease, during the first days or weeks. The degree of renal pathology generally affects the patient’s ultimate prognosis. Renal manifestations can range from mild hematuria or proteinuria to end-stage renal disease (less than 1% of patients). Patients usually declare themselves within several months, but cases of renal failure and hypertension have occurred years after the initial illness. Overall, about 1% to 5% of patients with HSP develop some degree of chronic renal disease. Berger disease (IgA glomerulonephritis) is believed by many to be HSP without the rash and hence an alternative manifestation of the same pathologic process.

289

Other features of HSP include low-grade fever, malaise, scrotal swelling with pain, periorbital and scalp edema, headache, cerebral vasculitis, CNS bleeding, seizures, nosebleeds, parotitis, hydrops of the gallbladder, and cardiopulmonary disease. There are no specific diagnostic laboratory abnormities, although tissue specimen staining for IgA is helpful. Clotting functions are generally normal, and platelet counts are normal or elevated. The presence of IgA complexes in the glomeruli, skin, and serum of affected individuals may be a clue to diagnosis. Skin biopsy documents leukocytoclastic vasculitis with IgA deposits in dermal capillaries and postcapillary venules. Elevated serum IgA and IgM levels are found in about one half of patients with HSP. Because there are no diagnostic laboratory examinations for this syndrome, the history and physical examination provide clues to the successful recognition of HSP. The course of the illness varies with age. The majority of patients self-resolve their initial illness in 4 weeks; however, approximately 40% have at least one recurrence, especially those with nephritis. Recurrences are generally less severe, have a shorter duration, and are limited to cutaneous and mild abdominal symptomatology. Recurrences typically occur during the first 4 to 6 months from onset of disease. If corticosteroids (CSs) are used to treat manifestations of HSP (which is controversial), a rapid taper has been demonstrated to trigger a flare of symptoms. Therefore it is advisable, if treating HSP with CSs, that a slow taper be conducted. In general, treatment of HSP is supportive, with the focus on maintaining adequate hydration, pain relief, and bowel rest.

Kawasaki Disease Kawasaki disease (KD), classified as a medium-vessel vasculitis with specific mucocutaneous features affecting younger children (90% are less than 5 years old), is notorious for its effects on the coronary arteries. Although the etiology of KD has eluded investigators, the clinical features and natural history of this distinctive vasculitis are well described. The need to rapidly recognize the presentation of this disease is heightened by its potentially devastating cardiac sequelae. The early recognition of KD favorably affects morbidity and mortality. KD, first described in 1967 in Japan by Tomisaku Kawasaki, consists of a unique constellation of clinical findings initially called mucocutaneous lymph node syndrome. This multisystem disease was independently described by Melish in 1976 in Hawaii. Since that time the disease has been recognized in all racial groups worldwide. Individuals of Asian ancestry are most commonly affected, and Japanese and Korean children have a particularly high incidence. The risk to AfricanAmerican children is greater than the risk to white children. Boys are more commonly affected than girls by a ratio of approximately 1.5 : 1. The peak age of patients with KD in the United States is 18 months to 2 years, with 80% of cases occurring in children younger than 4 years. Middle and upper socioeconomic classes are overrepresented. A variety of etiologies have been suggested as the cause of KD, but all have fallen short of complete acceptance. The clinical features of typical KD are remarkably consistent (Table 7-14). However, incomplete or atypical KD adds uncertainty to the clinician’s approach to diagnosis. It is notable that 10% of children who develop coronary artery aneurysms never meet the full criteria for KD. The diagnosis must be considered when a child has fever for more than 4 days and has two other clinical criteria. Children younger than 1 year of age are at highest risk of developing KD without fulfilling criteria and, unfortunately, are the group with the highest risk of developing coronary artery aneurysms,

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Table 7-14

Kawasaki Syndrome: Diagnostic Criteria

1. Fever for 5 or more days 2. Conjunctivitis (bilateral, bulbar, nonsuppurative) 3. Lymphadenopathy 4. Rash (polymorphous, no vesicles or crusts) 5. Change(s)* in the mucous membranes of the oropharynx, such as: Injected pharynx Injected lips Dry, fissured lips “Strawberry” tongue 6. Change(s)* of the peripheral extremities, such as: Hand or foot edema (acute) Hand or foot erythema (acute) Fingertip desquamation (convalescent)

Figure 7-69  Kawasaki disease. Nonexudative, nonulcerative, bulbar conjunctivitis. Note sparing of the limbus.

*One is sufficient to establish criterion. Diagnosis requires five of six criteria, or four criteria plus coronary artery aneurysms shown on echocardiography. It has been suggested that in the presence of classic features, the diagnosis of KS can be made (and treatment initiated) before the fifth day of fever. Modified from Centers for Disease Control: Multiple outbreaks of Kawasaki syndrome—United States, MMWR 34:33, 1985.

magnifying the gravity of the situation. The importance of appropriate clinical suspicion in the forme fruste of the disease cannot be overemphasized. The course of the illness is triphasic: acute (lasting 7 to 14 days), subacute (days 10 to 25), and convalescent (days 21 to 60) (Fig. 7-68). The acute phase is characterized by fever, irritability, nonexudative conjunctivitis, oropharyngeal erythema, rash, lymphadenopathy, and distal extremity edema and erythema. The onset of fever is sudden, often spiking as high as 40° C. It is remitting in character, with a mean duration of 12 days in the untreated individual. Some patients may continue to be febrile for 30 days or more without therapy. The fever has been shown to reflect elevation of proinflammatory cytokines, such as interleukin (IL)-1 and tumor necrosis factor (TNF), which are thought to mediate the underlying vascular inflammation. Fever generally precedes other clinical signs and symptoms by 1 to 2 days. The conjunctivitis appears early in the progression of the illness. The conjunctivitis is

Clinical Manifestations

Acute

Subacute

nonexudative and nonulcerative with bulbar predominance, and it usually persists for 1 to 2 weeks in the untreated patient. Limbic sparing is a common feature (Fig. 7-69). Additional eye findings include a transient anterior uveitis in most patients during the first 2 weeks of illness. Uveitis is demonstrated by slit-lamp ophthalmologic examination. Because these findings are not seen in the differential diagnosis of KD, their presence may be a helpful diagnostic tool. Oral findings include red, cracked, fissured lips; “strawberry tongue”; and diffuse mouth erythema (Fig. 7-70). These findings may last for several weeks as well. The classic “strawberry tongue” finding results from sloughing of the filiform papillae and denuding of the inflamed glossal tissue. Other findings, such as discrete oral ulcers or vesicles and tonsillar exudate, would support more of an infectious etiology opposed to KD. The rash of KD may manifest itself in many forms: scarlatiniform, morbilliform (Fig. 7-71), macular and papular erythema, multiforme-like with target lesions, urticarial plaques, or even pustular. It can be pruritic, but the presence of vesicles, erythroderma, petechiae, or purpura suggests another diagnosis. A predilection for involvement of intertriginous areas, particularly the perineum, has been noted (Fig. 7-72). Peeling of the perineum generally occurs several days before desquamation

Convalescent

Fever Arthritis Myocarditis

Cardiovascular

Aneurysms

A Red palms/soles

Skin

Desquamation

Nail changes

Lips, Mucosa, Conjunctiva Cervical Adenitis Thrombocytosis Weeks

0

1

2

3

4

5

6

7

8

9

Figure 7-68  Kawasaki disease. The syndrome can be divided into three clinical phases: acute, subacute, and convalescent. The temporal characteristics described here are typical of the disease course. (Adapted from Kawasaki T: Acute febrile mucocutaneous syndrome with lymphoid involvement and specific desquamation of the fingers and toes in children, Arerugi 16:178-222, 1967.)

B Figure 7-70  Kawasaki disease. A, Erythematous, cracked lips. B, “Strawberry tongue.”

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Figure 7-73  Kawasaki disease. Swollen, erythematous hands. Note the fusiform appearance.

Figure 7-71  Kawasaki disease. Morbilliform rash is one possible manifestation.

of the fingers and toes. A particularly striking feature of the acute phase of the syndrome is erythema and edema of the hands (Fig. 7-73) and feet, often associated with a refusal to walk. The characteristic desquamation of fingers and toes, beginning at the nail–fingertip junction, occurs between 10 and 21 days during the subacute phase (Fig. 7-74). The toes are involved later and to a lesser degree than the fingers. In the syndrome’s most dramatic form, the entire distal extremity can peel. Months after the acute phase of illness, transverse grooves called Beau lines are noted in the fingernails (Fig. 7-75). Although the initial syndrome was named mucocutaneous lymph node syndrome, the presence of a 1.5-cm or greater cervical lymph node is the least consistent feature, occurring in about 50% to 75% of children. The other five features are each found in the majority of patients. The “lymphadenopathic” presentation of KD strongly mimics pyogenic lymphadenitis. Although many of the aforementioned features are considered central to the diagnosis of KD, it is often the associated features of the disease that add credence to the diagnosis. Both an “early” and a “late” form of arthritis and arthralgia occur in one third of children with KD. The arthritis is

A

Figure 7-74  Kawasaki disease. Fingertip and toe tip peeling in the subacute phase.

Figure 7-75  Kawasaki disease. Beau lines of fingernails in the convalescent phase.

B

Figure 7-72  Kawasaki disease. A, Perineal rash with peeling. B, Neck rash with peeling. Note that peeling of an intertriginous rash occurs before extremity peeling.

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Figure 7-76  Kawasaki disease. Inflammation of the urethral meatus (often associated with sterile pyuria).

typically characterized by a small-joint polyarthritis during the first weeks of illness and later a large-joint pauciarthritis. It does not persist beyond a few months and is nonerosive. Urethritis and inflammation of the urethral meatus occur and generally are accompanied by sterile pyuria (Fig. 7-76). Diarrhea, vomiting, abdominal pain, and hepatitis are frequent gastrointestinal features seen early in the illness. Other gastrointestinal manifestations include pancreatitis and transient gallbladder dilation. During the acute phase of KD, cardiac features include tachycardia, dysrhythmias, pericarditis, pericardial effusion, myocarditis, mitral or aortic insufficiency, and congestive heart failure. CNS findings such as lethargy, meningismus, aseptic meningitis, facial nerve palsy, sensorineural hearing loss, and paralysis of the extremities have been described but are uncommon. Analysis of CSF demonstrates inflammation with mononuclear pleocytosis but typically without elevation of CSF protein. Other laboratory abnormalities reflecting systemic inflammation include elevation of acute-phase markers such as the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), leukocytosis with a left shift in the WBC count, normocytic normochromic anemia, and thrombocytosis. Because of the dynamic nature of this syndrome, meticulous and frequent physical examinations are essential. As the syndrome progresses toward the subacute phase, thrombocytosis is considerable with platelet counts reaching 1 million. Coronary artery aneurysms (Fig. 7-77) also develop in the subacute phase and, in combination with thrombocytosis, place the patient at risk for myocardial infarction. Coronary artery aneurysms are the hallmark of KD sequelae, and since the 1980s it has been recognized that early treatment of KD (within the first 10 days of illness) with intravenous immunoglobulin (IVIG) reduces the incidence of coronary artery aneurysms by more than 70%. Approximately 20% of untreated patients develop coronary artery aneurysms. Although many regress spontaneously, approximately 1% of affected individuals die of related complications. Of these deaths, 85% occur during the first 10 to 40 days of illness.

The natural history of these aneurysms includes thromboembolism and vessel occlusion and leads to myocardial infarction in a small group of patients. Others develop coronary artery stenosis or persistent asymptomatic aneurysms of various sizes. Giant aneurysms (8 mm or more in diameter) are most likely to result in stenosis, thrombosis, and myocardial infarction. In general, smaller aneurysms (40 mg/m2/hour or 1000 mg/m2/day), free fat droplets and oval fat bodies, and little or no hematuria or other sediment abnormalities. Acute Glomerulonephritis Acute glomerulonephritis is characterized by the sudden onset of painless dark, cola- or tea-colored urine; proteinuria; and cellular casts on urine microscopy. Edema, hypertension, and renal insufficiency are common clinical findings and together

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Figure 13-3  Red blood cell cast from a patient with poststreptococcal glomerulonephritis. These casts are almost always associated with glomerulonephritis or vasculitis and virtually exclude extrarenal disorders of bleeding.

constitute the nephritic syndrome, which implies the presence of renal inflammation. The most common cause of acute glomerulonephritis in children is acute poststreptococcal glomerulonephritis. This condition follows pharyngitis, otitis media, or pyoderma caused by one of about 10 nephritogenic strains of group A β-hemolytic streptococci. Only about 15% of children infected with these strains manifest clinical symptoms to suggest nephritis. The disorder most frequently affects children ages 4 to 12 years and is more common in males. Both humoral (immune complexes with predilection for glomeruli) and cellular factors have been implicated in the pathogenesis of this disorder. Most symptoms and signs resolve within a few weeks, although microscopic hematuria may last for up to 1 year. Complete recovery of renal function is the rule, with only a few children progressing to renal failure. Other conditions that may present as acute glomerulonephritis include IgA nephritis and Henoch-Schönlein purpura. In some instances, these disorders may have an aggressive clinical course characterized by oliguria, hypertension, and rapid reduction in glomerular filtration rate, in which case the designation of rapidly progressive glomerulonephritis (RPGN) is given. Renal biopsy in such patients often demonstrates cellular or acellular crescents and inflammatory infiltrates. In addition to the clinical symptoms, anti-nuclear antibody titer, anti–streptolysin O titer, anti-neutrophilic cytoplasmic antibody titer, serum immunoglobulin concentrations, and C3 and C4 levels are often helpful in differentiating several of the glomerulonephritides. Complement levels are particularly helpful because only a few of these conditions are associated

Figure 13-4  White blood cell cast from a patient with chronic glomerulonephritis.

with depressed levels. The most common of these conditions in pediatrics include acute poststreptococcal glomerulonephritis, lupus nephritis, membranoproliferative glomerulonephritis, and glomerulonephritis associated with chronic indolent infections (ventriculoperitoneal shunt infection, endocarditis, and occult abscess). In poststreptococcal glomerulonephritis, the C3 levels are only transiently reduced and return to normal concentrations within 8 weeks after onset of the renal symptoms. A typical presentation is that of a child 3 to 10 years of age, whose symptoms during the preceding few days have included mild periorbital edema, headache, and decreasing urine output. The urine is described as being smoky or tea colored. Medical history reveals that 2 weeks earlier the child experienced a febrile illness with painful pharyngitis for which he received no medical attention. Clinical examination reveals a blood pressure of 140/105 mm Hg, mild periorbital edema, and tenderness on palpation of the kidneys. A urinalysis shows the following values: 2+ protein, 3+ blood, and an SG of 1.020. Red blood cell casts (see Fig. 13-3) are seen on urinalysis. Laboratory studies are consistent with mild renal insufficiency and also revealed a protein excretion rate of 1.1 g/24 hours, a low plasma C3 level, and elevated streptozyme and anti-DNase B titers, evidence that strongly implicates a streptococcal infection in the pathogenesis of the glomerulonephritis. Chronic Glomerulonephritis White blood cell casts may be seen in the urine sediment of patients with acute or chronic glomerulonephritis, vasculitis, pyelonephritis, and other disorders resulting in tubulointerstitial nephritis. The cast shown in Figure 13-4 occurred in a child with systemic lupus erythematosus whose only symptom was mild back pain. Urinalysis demonstrated 2+ protein, microhematuria, pyuria without bacteria, and red and white blood cell casts. Diagnosis was confirmed by immunologic findings including low serum C3 and C4 levels, high antinuclear antibody titer, and antibodies against double-stranded DNA. Renal biopsy revealed diffuse proliferative lupus nephritis. Several acute glomerular syndromes may progress to chronic glomerulonephritis. In the final stages, many such patients develop hypertension and severe renal failure (uremia). On renal ultrasonography, the kidneys appear small and hyperechoic due to fibrosis. Henoch-Schönlein Purpura Three weeks after a respiratory infection, a 2-year-old boy experienced symptoms of generalized malaise, abdominal pain, periorbital edema, and difficulty walking “as if his legs were hurting.” One day later he developed an ecchymotic, purpuric rash, the characteristic clinical manifestation of Henoch-Schönlein purpura (HSP). The rash covered the extensor surfaces of the extremities and the buttocks but spared the trunk. Individual lesions faded over 1 week, but new lesions appeared or recurred over several weeks. Other cutaneous manifestations of the vasculitic lesions in this disorder are shown in Figures 13-5 and 13-6. Some patients initially develop an urticarial-type eruption that subsequently becomes macular or maculopapular. On occasion, younger patients develop an angioneurotic-like edema of the scalp, face, or dorsum of the hands or feet. Of children with HSP, 90% have a prodrome consisting of an upper respiratory infection 1 to 3 weeks before the onset of symptoms, and 80% have melena, hematemesis, and/or arthritis mostly involving the ankles and knees. About half of the patients have renal involvement ranging from simple microscopic hematuria and a variable degree of proteinuria, to oliguria and renal failure. In contrast to adults, use of



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Figure 13-7  Marked eyelid edema in a 2-year-old boy with minimal change disease and nephrotic syndrome. Eyelid edema in any child should prompt the performance of urinalysis, rather than the presumption of allergy.

Figure 13-5  Older child with severe Henoch-Schönlein purpura vasculitis resulting in cutaneous necrosis just below and anterior to the right malleolus.

multiple medications is rarely related to the onset of this condition in children. There are no distinct biochemical features of this disorder. Leukocytosis and an elevated serum IgA level may be present. In the absence of severe proteinuria, hypoalbuminemia and edema are often a result of protein-losing enteropathy. Platelet counts and coagulation studies are normal. The skin rash is essential for the diagnosis of HSP because the renal abnormalities may otherwise closely resemble a similar disorder known as IgA nephropathy (Berger disease). Nephrotic Syndrome Nephrotic syndrome (NS) is defined as any renal disorder resulting in marked proteinuria (≥40 mg/m2/hour, ≥1000 mg/ m2/day, or spot urine protein-to-creatinine ratio > 2.0), leading

Figure 13-6  The typical vasculitic rash of Henoch-Schönlein purpura is evident in the dorsum of the foot of this 15-year-old youngster. He went on to develop rapidly progressive glomerulonephritis and pulmonary hemorrhage that were managed by pulse methylprednisolone.

to hypoalbuminemia, hypercholesterolemia, and edema. Generalized edema and rapid weight gain are characteristic features of this condition, with the former showing a predilection for the eyelids, pleural spaces, abdomen, scrotum, and lower extremities (Figs. 13-7 and 13-8). Although edema usually provokes few complaints, at times it may be disfiguring, and it may produce skin induration and breakdown, or interference with respiratory, genitourinary, or gastrointestinal function. Children with NS rarely have an underlying systemic illness or a history of drug intake and thus are designated as having primary or idiopathic NS. The most common histopathologic entities of noninflammatory glomerular disorders associated with primary NS of childhood include minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and membranoproliferative glomerulonephritis (MPGN); membranous glomerulopathy (MGP) is also encountered in older children and in adults. Examples of the pathology of these disorders are depicted in Figure 13-9, A-D. Lower levels of proteinuria, termed nephrotic-range proteinuria, may also develop in children with acute poststreptococcal glomerulonephritis, HSP, IgA nephritis, or systemic lupus erythematosus, as well as rare patients treated with

Figure 13-8  Severe scrotal edema in a 6-year-old boy with nephrotic syndrome.

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A

B

C

D Figure 13-9  Common pathologic forms associated with idiopathic nephrotic syndrome in children. A, Normal glomerular architecture. Notice the lacey appearance of the glomerular basement membrane (GBM) and open capillary loops. B, Focal segmental glomerulosclerosis. A few glomeruli (hence focal) may have a segment that is sclerosed as shown in this section stained with hematoxylin and eosin (H&E). Other lesions classified as focal segmental glomerulosclerosis (FSGS) include tip, collapsing, cellular, and “not otherwise specific” forms. C, Membranoproliferative glomerulonephritis. This condition is associated with low circulating C3 or low C3 plus nephritic factor, as well as immune complexes seen on immunostaining of frozen renal biopsy sections. Because of proliferation of mesangial cells, the glomeruli are enlarged and often have a lobular accentuation. Mesangial cell interposition leads to characteristic “tram track” or splitting of the GBM as shown in this light photomigrograph. D, Membranous glomerulopathy is evident by diffuse thickening of the GBM and associated intramembranous and epimembranous immune deposits.

nonsteroidal antiinflammatory agents and other drugs. Such individuals do not develop the other features of NS. The clinicopathologic correlation between NS associated with MCD and its favorable response to steroids has become increasingly less important over the past three decades. For example, a landmark multicenter study of childhood NS from 1967 to 1976 (International Study of Kidney Disease in Children, 1978, 1981) found that nearly 80% of all children with NS had MCD (e.g., normal pathology under light microscopy and podocyte foot process fusion seen on electron micro­ scopy), and the chances of undergoing remission by the use of corticosteroids was 93% to 98%. In contrast, FSGS accounted for 5% to 7% of the cases of NS and only 17% to 30% underwent remission after 1 month of treatment with an adequate daily dose of steroids. Also, the same study determined that whereas multiple relapses are common in children with MCD, late resistance to steroids occurred in only 3.3%. More recent experience has challenged this paradigm. The proportion of all children presenting with NS who respond to steroids is perhaps less than 55% regardless of the underlying histopathology, and late resistance to steroids in those with

MCD may exceed 20% of cases. Consequently, over the past 15 to 20 years clinicians use the terms “steroid sensitive” (SSNS), “steroid dependent” (SDNS), and “steroid resistant” (SRNS) to classify individuals with NS, rather than rely solely on the renal biopsy diagnosis to guide management decisions and predict prognosis. It should be noted that in addition to children with SRNS, those with SSNS who develop relapses while still taking steroids, and those with SDNS, have a high likelihood of developing SRNS. In children with SDNS and especially in those with SRNS, treatment often evolves by trial and error. With the exception of some relatively rare genetic disorders leading to NS, the etiology of idiopathic or primary NS is unknown. Several genetic and acquired derangements in podocytes and their epithelial foot processes lining the glomerular capillaries have been identified, and are collectively known as podocytopathies. However, the triggering stimulus of primary NS is unknown. Activation of various immunologic mechanisms, possibly stimulated by infectious agents, is implicated. Several cytokine derangements and vascular permeability factors may also play a role in the development of

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Podocalyxin NHERF2 Ezrin

539

F-actin MAGI-1 CD2AP Podocin

synpo

Z

utrophin -act-4

-DG 3 -DG

 



Nephrin NEPH-1? P

P-Cad

V T

1 FAT GBM

Figure 13-10  A graphic representation of the components of the slit diaphragm between two adjacent glomerular podocyte foot processes. The slit diaphragm is a P-cadherin–based adherens junction. Several molecules in this junction interact with the cytoskeleton of the podocytes. Among the known molecules in this interaction are nephrin, podocin, α-actinin-4 (α-act-4), β1-integrin (β1), α-dystroglycan (α-DG), β-dystroglycan (β-DG), sodium/hydrogen exchanger regulatory factor-2 (NHERF2), paxillin (P), P-cadherin (P-Cad), synaptopodin (synpo), talin (T), vinculin (V), zonula occludens-1 (ZO-1), and CD2-associated protein (CD2AP). (Modified from Mundel P, Shankland SJ: Podocyte biology and response to injury, J Am Soc Nephrol 13:3005-3015, 2002.)

proteinuria. Regardless of the underlying etiology, both the duration and the magnitude of proteinuria correlate well with the development of renal injury. It is hypothesized that the protein overload overwhelms the capacity of proximal tubular epithelial cells to reabsorb and process proteins escaping the glomerular barrier, resulting in accelerated apoptosis or direct injury to these cells, ultimately leading to interstitial fibrosis. Thus, achieving remission or reducing the amount of proteinuria is a major goal of medical management. Although genetic mutations of laminin B2 and B3 chain genes and other structural proteins of the glomerular basement membrane can lead to NS, genetic mutations leading to derangements in transcription of several proteins that maintain the structure and function of the slit diaphragm of podocytes are much more common and underscore the importance of this structure as the main barrier to proteinuria (Fig. 13-10). The Finnish-type congenital NS is the prototype of a genetic mutation of nephrin and accounts for 6.25% of children with SRNS. Podocin mutations account for most familial cases of FSGS and of steroid-resistant cases (18%), especially among African-American children. Actinin IV mutations are autosomal dominant and cause a cytoplasmic defect in the podocytes (not in the slit pore diaphragm). African Americans with a form of the specific MYH9 polymorphism that encodes myosin heavy chain IIA have a much higher risk for developing FSGS in association with human immunodeficiency virus (HIV) infection even during the first few months of life. This may lead to poor association of myosin and actin and disruption of the podocyte cytoskeleton. However, although genetic mutations point to the importance of aberrant protein transcription in the development of proteinuria and NS, the rising incidence of SRNS and FSGS, especially among African-American children in the United States, suggests an important contribution of environmental rather than genetic influences in triggering primary NS. Thus, acquired and therefore potentially reversible disorders of podocyte function account for the majority of cases of NS. One hypothesis implicates an alteration in the cathepsin L proteolytic pathway of podocytes so as to change cell metabolism and result in proteinuria (Kistler et al, 2010). In fact, a

major benefit of cyclosporine use in primary NS may be mediated by direct protection of the podocyte actin cytoskeleton from cathepsin-mediated injury rather than from an immunosuppressive action. Such an understanding may lead to podocyte-targeted therapies. Similarly, deletion of CD2associated protein (CD2AP), a protein that interacts with nephrin and is essential in maintaining slit diaphragm integrity, leads to NS. Genetic traits may also be important in conferring responsiveness to steroids and calcineurin inhibitors by reversing aberrant mechanisms in podocytes. Management of SDNS and of SRNS is one of the major challenges in pediatric nephrology today. Management is limited by the lack of clear understanding of the pathophysiology of the underlying disorder and by a dearth of large-scale, placebo-controlled studies. All therapies have potential serious adverse effects. Transplantation has been a successful option in kidney failure; however, in many patients, NS may recur. Cyclophosphamide has been recommended as the firstline drug for SDNS and for SRNS and is used for a 3-month period. Because a large number of children with biopsyconfirmed FSGS are unresponsive to cyclophosphamide, calcineurin inhibitors such as tacrolimus or cyclosporine are increasingly becoming the first-line drug for FSGS, thereby sparing unnecessary gonadal and other toxicity. Mycophenolate mofetil (MMF) is often added to help maintain remission while allowing reduction of the dosages of steroids and limiting the nephrotoxicity associated with long-term administration of calcineurin inhibitors. Angiotensin receptor blockers and angiotensin-converting enzyme inhibitors are often employed as adjunct antiproteinuric and/or antihypertensive agents in children with SRNS. Plasmapheresis to remove a putative vascular permeability factor has been applied in some individuals with SRNS associated with FSGS, with variable success. In children with SRNS refractory to the previously described agents, rituximab, an anti-CD20 antibody directed against B cells that may have a regulatory effect on T cells, may be effective. Theoretically, bortezomib, a proteasome inhibitor that may limit antibody synthesis by plasma cells, may also have a benefit in SRNS. However, the efficacy and safety of

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these agents have not been adequately investigated in the setting of NS. Steroids are also useful in managing less common causes of NS such as MPGN (see Fig. 13-9, C), or steroids alternating with cyclophosphamide for 6 months in adolescents with membranous glomerulopathy (see Fig. 13-9, D). Because agents used to manage NS may have significant short- and long-term toxicity, investigations are currently focusing on the identification of blood and urine biomarkers as “surrogate markers” of the underlying histopathology and steroid resistance, thus permitting the earlier use of other, more effective agents, as well as monitoring of response to treatment. For example, the urine level of CD80 differentiation antigen present in podocytes and in antigenpresenting cells rises in MCD during relapses of NS in children but falls while they are in remission. CD80 is not present in the urine of children with FSGS or in healthy children and may be up-regulated by T cell–derived cytokine interleukin (IL)-13. Serum IgE also increases in children during relapses of MCD. Another study showed a rise in CD19+ lymphocyte count in association with relapses of SDNS or calcineurin-sensitive NS, suggesting an important role of this cell subset in NS.

PEDIATRIC NEPHROLITHIASIS The diagnosis of nephrolithiasis should be entertained in any child with acute onset of costovertebral angle or abdominal/ flank colicky pain. In younger children, renal colic is poorly localized and is often described as diffuse abdominal pain. Small stones may produce no pain and may be detected only after an episode of painless gross hematuria, pyuria, or UTI. Thus, a strong index of suspicion is required on the part of the clinician so that appropriate diagnostic studies are undertaken. Although dietary phytate is a more common cause of endemic stones in the Far East and UTI is more common in Europe, metabolic disorders predominate in children with nephrolithiasis in the United States. Relatively few children pass gravel or stones, and the kind of crystals found in the urine are rarely of diagnostic value. The clinical history and laboratory evaluation often reveal the cause of the stones. Direct chemical analysis of the calculus may also disclose the composition of the stone. One diagnostic approach to pediatric nephrolithiasis is shown in Table 13-2. The most common calculus found in children consists of calcium oxalate or calcium phosphate followed by uric acid, cystine, and struvite calculi. Calcium calculi frequently occur in children with idiopathic hypercalciuria, which may be manifested by painless microscopic or recurrent gross hematuria for many years before frank nephrolithiasis occurs. Hypercalciuria is found in 35% of all children evaluated for hematuria. Screening for hypercalciuria may be done with a single voided urine specimen; a fasting calcium-to-creatinine ratio exceeding 0.21 is highly suggestive of this condition, which may then be confirmed by a 24-hour urine collection having calcium content greater than or equal to 4 mg/kg body weight. Children with hyperuricosuria, defined as a uric acid excretion [normalized to glomerular filtration rate: (urine uric acid/ plasma uric acid) × plasma creatinine] greater than 0.53 mg/ dL in a random urine sample, may have dysuria or pyuria, thereby mimicking UTI. Citrate is an inhibitor of calcium crystallization, and hypocitraturia, defined as less than 400 mg/g creatinine in a 24-hour urine collection, is often found in patients with calcium nephrolithiasis. Table 13-3 shows normal values of both 24-hour urine collection and spot urine samples commonly investigated in patients suspected to have nephrolithiasis and/or nephrocalcinosis.

Table 13-2

Evaluation of Nephrolithiasis

Clinical History Family history of nephrolithiasis Immobilization or other protracted illness or stress High dietary purine intake Excessive salt or calcium ingestion Large and infrequent meals Excessive intake of vitamins or over-the-counter medications Symptoms of UTI or history of pyelonephritis Source and calcium content of drinking water Polyuria or polydipsia Physical Diagnosis Band keratopathy and other signs of hyperparathyroidism Elfin facies and other features of Williams syndrome Radiologic Studies Noncontrast helical CT—the most sensitive modality to detect renal or ureteral stone Ultrasound—especially sensitive in identifying renal calculi, nephrocalcinosis, and radiolucent stones KUB—for the identification of ureteral stones; radiopaque stones include calcium oxalate and cystine Urinary Studies Urinalysis—may reveal pyuria or bacteriuria, inability to lower urinary pH or to concentrate the urine, or flat hexagonal crystals pathognomonic of cystinosis Urine culture Screening with cyanide-nitroprusside (cystinosis) Timed or spot urine collections on two or more occasions* Biochemical Studies Creatinine, BUN, electrolytes, total CO2, albumin, calcium, phosphorus, magnesium, and uric acid; plasma parathyroid hormone levels if indicated Chemical analysis of gravel or stones *See Table 13-3 for common urine chemical studies and their normal values. BUN, blood urea nitrogen; CT, computed tomography; KUB, plain film of kidneys, ureters, and bladder; UTI, urinary tract infection.

Studies report significant increases in incidence of nephrolithiasis in both adults and children. However, assuming that the genetic pool of patients predisposed to hypercalciuria has not changed appreciably, one can speculate that the increase in incidence is due mostly to dietary factors, including high sodium, protein, phosphate and caffeine, and low water intake. The nonabsorptive form of hypercalciuria appears to have an autosomal dominant inheritance underlying a renal tubular defect and net loss of calcium independent of the amount of dietary calcium ingested. The absorptive form may be associated with increased serum concentrations of 1,25-dihydroxyvitamin D resulting in increased fractional absorption of calcium at the intestinal level. Premature infants receiving high dosages of furosemide to control fluid retention associated with pulmonary and cardiac disorders may develop hypercalciuria, nephrolithiasis, and nephrocalcinosis (Fig. 13-11, A). Other disorders predisposing to nephrolithiasis include hyperparathyroidism, cystinuria (Fig. 13-12), hyperoxaluria, defects of purine metabolism, and distal (type 1) renal tubular acidosis (see Fig. 13-11, A-C). UTIs and obstructive uropathy are also important risk factors in the development of struvite and calcium apatite stones. Acute management includes pain control, increased hydration to pass the stone, and urologic procedures including extracorporeal shock wave lithotripsy, percutaneous nephrostolithotomy, and ureteroscopy. Indications for urologic procedures include persistent urinary obstruction, unremitting severe pain, struvite calculi, stones that fail to pass after a trial of conservative therapy, and urosepsis. After the acute

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Table 13-3

Normal Values for 24-Hour Urine Collection and Spot Urine Samples

Parameter, Age

24-Hour Sample

Calcium   7 yr Oxalate   0-6 mo   7-24 mo   2-5 yr   5-14 yr   >16 yr Uric acid Citrate   Male

310 mg/1.73 m2

Magnesium Cystine   10 yr   Adults

>0.8 mg/kg

365 mg/1.73 m2

Spot Sample (Soluteto-Creatinine Ratio) 0.81 mg/mg 0.53 mg/mg 0.39 mg/mg 0.28 mg/mg 0.21 mg/mg 260-288 mg/g 110-139 mg/g 80 mg/g 60-65 mg/g 32 mg/g >2 yr: 5 yr: 0.25 g/g (for both genders) >0.13 g/g

5 mm) that are located more than 2.5 cm from the anus also have an increased incidence of underlying malformations, whereas those with simple blind dimples located within the gluteal cleft or within 2.5 cm of the anus do not. Although neurologic abnormalities are commonly associated with the lesions mentioned earlier, they are by no means universal. Figure 15-33 shows a child with

a large lumbosacral hemangioma who did not have any associated neurologic abnormality. Midline defects are not limited to the caudal portion of the neural tube but can occur over the head and neck as well. Most notably, these include encephaloceles. These may be obvious in their appearance (see Chapter 1, Fig. 1-20, A), may have no external findings (see Chapter 23, Fig. 23-36), or may be associated with an overlying scalp lesion such as a vascular malformation (Fig. 15-34). Because early diagnosis and neurosurgical intervention can prevent the onset and/or progression of neurologic deficits, newborns with midline cutaneous or subcutaneous stigmata and those with atypical dimples or clefts should undergo radiologic screening. Ultrasonography has proved to be the best tool for this purpose before ossification of the posterior vertebral elements (at 3 months) because it not only can detect vertebral defects and spinal anomalies but also can be used to assess cord motion. If this reveals an underlying malformation or anomaly, follow-up MRI and neurosurgical referral are indicated. Common intraspinal lesions include dermoid tumors, intraspinal lipomas (Fig. 15-35), and diastematomyelia (Fig. 15-36). Although some patients with occult spinal dysraphism may show signs of neurologic dysfunction and talipes equinovarus from birth, most develop symptoms insidiously after a symptom-free interval. Dysfunction usually begins at approximately 3 years of age, but many do not develop problems until school age or adolescence. Presenting complaints may include back or leg stiffness, clumsiness, mild weakness or numbness of the lower extremities, or problems with bowel or bladder dysfunction.

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A

C

B

Figure 15-32  Cutaneous and subcutaneous markers of occult spinal dysraphism. A, Note the hairy patch over the lumbar region, here associated with diastematomyelia. B, The soft subcutaneous mass seen overlying the sacrum of this infant was determined to be a lipoma. C, Sacral sinus tract associated with intraspinal dermoid tumor. (A and C, Courtesy Michael J. Painter, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa; B, from Cohen BA: Atlas of pediatric dermatology, London, 1993, Mosby-Wolfe.)

Objective findings may consist of decreased tone and decreased deep tendon reflexes in the lower extremities; patchy decreases in sensation; and foot deformities consisting of broadening and shortening, deepening of the arch, and contractures of the toes (see Chapter 21, Fig. 21-110). Symptoms of associated tethering of the spinal cord may be present in infancy, but often their onset is delayed until the child enters a period of rapid growth and develops back, leg, or buttock pain; signs of lower limb spasticity; and, on occasion,

bowel and bladder dysfunction. These symptoms presumably are due to progressive deformation of the tethered cord, which is not free to “ascend” normally within the spinal canal as the rate of linear growth of the vertebral column outpaces that of the spinal cord. Tethering of the spinal cord by an anomalous filum terminale (Fig. 15-37), producing similar signs of progressive neurologic dysfunction, can occur in the absence of associated cutaneous abnormalities, vertebral defects, or intraspinal tumors.

Figure 15-33  Lumbosacral hemangioma. This child has a large lumbosacral hemangioma that extended well below the surface and wrapped around the vertebral column, but regressed promptly and was not associated with any abnormality of the underlying neural or bony structures. (Courtesy Robin Gehris, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 15-34  Midline vascular malformation with an underlying atretic encephalocele in an infant who had no signs of neurologic dysfunction. (Courtesy Robin Gehris, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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Intraspinal lipoma Figure 15-35  Occult spinal dysraphism. CT scan demonstrates an intraspinal lipoma in a child with a subcutaneous lipoma over the lumbar spine.

Figure 15-37  Tethered cord resulting from a tight filum terminale. On myelography, the conus medullaris is pulled down to L3-L4 by a tethered filum terminale, the upper portion of which is thickened. Presenting symptoms included weakness of plantar flexion, eversion of the feet, and bladder dysfunction. (Courtesy Charles Fitz, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

INCREASED INTRACRANIAL PRESSURE The cranial cavity is occupied by the brain, blood, and CSF. An increase in the volume of any of these compartments, unless accompanied by a concomitant decrease in one or both of the other compartments, results in increased intracranial pressure. Increased intracranial pressure can result from a wide variety of disorders and is itself hazardous. Recognition of associated signs and symptoms permits early diagnosis and prompt intervention to forestall progressive brain injury or catastrophic neurologic deterioration.

Primary Signs and Symptoms

Figure 15-36  Diastematomyelia. This 6-month-old infant had progressive inturning and plantar flexion of the left foot and a slightly deviated gluteal cleft. On myelogram, her spinal cord splits at L1, coursing around a bony spur at L2, then rejoins at  L4-L5. She also had complete spinal dysraphism of L2-L4 and partial dysraphism at L1 and L5.

The clinical manifestations of increased intracranial pressure vary with age. In infants, examination of the anterior fontanelle allows reliable assessment of intracranial pressure. In the normal, quiet infant held in an upright or sitting posture, the anterior fontanelle is flat or slightly concave. Under these conditions, an anterior fontanelle that bulges above the contour of the calvaria and that is excessively firm on palpation is always abnormal (see Fig. 15-29, A; and see Chapter 12, Fig. 12-40, B). Because the cranial sutures are not fused in infants and young children, increased intracranial pressure rapidly produces separation of the bony plates of the skull. In infants, this can be detected by palpation; in older children, skull radiographs may be necessary to identify widened cranial sutures (Fig. 15-38, A). Prominent convolutional markings on the inner table of the skull (Fig. 15-38, B) are a less useful

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A

603

C

B

Figure 15-38  Findings of increased intracranial pressure that may be seen on standard skull radiographs. A, Widening of the cranial sutures. B, Prominent convolutional markings on the inner table of the skull (beaten silver skull). C, Erosion of the sella turcica, in this case resulting from a craniopharyngioma. (A, Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa; B and C, courtesy Jocelyn Medina, MD.)

radiographic sign because they are frequently seen on skull radiographs of normal children. However, when secondary to increased intracranial pressure, they are preceded by suture diastasis and changes in the sella turcica (Fig. 15-38, C). An excessive rate of head growth is a prominent feature of chronically increased intracranial pressure in infants and children up to 3 years of age. Associated findings may include frontal prominence and distended scalp veins (see Fig. 15-29, A). If the ability to compensate for increased intracranial pressure by expansion of the calvaria is exceeded, other symptoms appear. These may include listlessness, irritability, poor feeding, vomiting, failure to thrive, paresis of upward gaze (see Fig. 15-29, B), increased tone, hyperactive stretch reflexes, and a high-pitched cry. Papilledema is uncommon. In older children and adults the most consistent clinical features of increased intracranial pressure include headache, vomiting, visual disturbances, and papilledema. Headaches are of variable severity. They may be constant or intermittent and generalized or localized to frontal, temporal, or occipital regions. In some, but by no means all cases, they recur on early rising or awakening and are accompanied by vomiting. The headaches may be exacerbated by sneezing, coughing, or straining. Vomiting resulting from increased intracranial pressure is no different from vomiting from other causes. It is seldom projectile and is not necessarily accompanied by headache. Horizontal diplopia (double vision) secondary to paralysis of one or both abducens nerves is the most common visual disturbance. Initially, double vision may occur only on lateral gaze toward the side of the paretic lateral rectus muscle. This may be intermittent and may not be accompanied by limitation

of ocular motility sufficient to be seen by the examiner. With progression, diplopia becomes constant and is present even with the eyes in the primary position, and an internal strabismus results (Fig. 15-39). Selective vulnerability of the sixth cranial nerve to increased intracranial pressure may be explained by its long intracranial course and proximity to rigid structures. Other visual disturbances may include transient obscurations, visual field deficits, and impaired upward gaze. Sustained intracranial hypertension produces papilledema, a passive swelling of the optic disk (Fig. 15-40). The observation of papilledema in a child with headache, vomiting, or visual disturbances confirms the presence of increased intracranial pressure. The absence of venous pulsations or the presence of associated flame-shaped hemorrhages can help distinguish papilledema from other causes of blurred optic disk margins. Increased intracranial pressure may be accompanied by changes in personality and behavior, deteriorating school performance, decreased appetite and activity, and alterations in level of consciousness.

Figure 15-39  Left abducens (sixth cranial nerve) palsy. This boy presented with headaches and diplopia and was found to have papilledema and a left abducens palsy. Note that his left eye cannot move past the midline on left lateral gaze. (Courtesy Kenneth Cheng, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 15-40  Papilledema. Fundus photograph shows blurring of the optic disk margin, elevation and hyperemia of the optic nerve head, and distention of the retinal blood vessels. (Courtesy Kenneth Cheng, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Etiologies Causes of increased intracranial pressure include cerebral edema, mass lesions, trauma, CNS infections, pseudotumor cerebri, and hydrocephalus.

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Figure 15-41  Cerebral edema. CT performed 24 hours after severe hypoxic– ischemic injury. Note the obliteration of the cerebral ventricles, the loss of gray matter–white matter differentiation, and the homogeneous “ground-glass” appearance. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

Figure 15-42  Choroid plexus papilloma. CT of an infant with excessively rapid head growth. There is an enhancing mass within the body of the left lateral ventricle and associated ventricular enlargement (hydrocephalus) secondary to excessive secretion of CSF by the tumor. (Courtesy Michael Painter, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Cerebral Edema

(Fig. 15-46, B). The cardinal manifestations of brainstem glioma (Fig. 15-47) are cranial nerve palsies associated with contralateral hemiplegia and ataxia. Increased intracranial pressure is not an early feature.

Cerebral edema (Fig. 15-41), an expansion of brain volume resulting from an increase in brain content of water and salt, is a response of brain tissue to a variety of insults. Vasogenic cerebral edema results from the alterations in vascular permeability produced by brain tumor, trauma, abscess, and hemorrhage. Cytotoxic cerebral edema, caused by swelling of brain cells (neurons and glia), usually results from infection, hypoxia, ischemia, or toxins. Intracranial Mass Lesions Tumors, intracranial hemorrhages, abscesses, and vascular malformations produce increased intracranial pressure by occupying space, causing cerebral edema, obstructing CSF pathways, and altering blood flow. Intracranial Tumors Choroid plexus papillomas, by secreting an excess of CSF, cause communicating hydrocephalus (Fig. 15-42). Although astrocytomas and oligodendrogliomas of the cerebral hemispheres (Fig. 15-43) often manifest as seizures or contralateral motor difficulties, symptoms of increased intracranial pressure are the initial manifestations in 37% of cases and are present at the time of diagnosis in 80%. Pineal region tumors (Fig. 15-44) frequently obstruct the third ventricle or cerebral aqueduct, producing signs and symptoms of increased intracranial pressure accompanied by Parinaud syndrome (impairment of the upward gaze with preservation of the downward gaze and retraction–convergence nystagmus with attempted upward gaze) resulting from compression of the periaqueductal gray (see Fig. 15-29, B). Hypothalamic region tumors such as craniopharyngioma (Fig. 15-45) manifest as growth retardation or failure of sexual maturation accompanied by visual field defects resulting from compression of the optic chiasm. Hydrocephalus occurs in 25% of cases. Headache and vomiting accompanied by disturbances of gait and coordination are frequent presenting manifestations of posterior fossa tumors such as cerebellar astrocytoma, medulloblastoma, and ependymoma. Midline tumors involving the cerebellar vermis can produce truncal ataxia (Fig. 15-46, A), whereas mass lesions of the cerebellar hemispheres often cause unilateral limb ataxia and horizontal nystagmus

Brain Abscesses Brain abscesses (Fig. 15-48) are uncommon in the absence of predisposing factors such as chronic otitis or sinusitis, chronic pulmonary infection, dental abscesses, cyanotic congenital heart disease, or immunosuppression. Unless accompanied by prodromal symptoms of fever, headache, lethargy, and malaise, brain abscesses may be impossible to distinguish from other intracranial mass lesions on clinical grounds. Intracranial Hemorrhage Spontaneous intracranial hemorrhage (Fig. 15-49) secondary to rupture of a vascular malformation or arterial aneurysm is rare in the pediatric population. Leakage of small amounts of

Figure 15-43  Hemispheric oligodendroglioma. CT scan of a patient with seizures demonstrates a low-density mass lesion in the right frontal lobe. (Courtesy Michael Painter, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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605

hematoma frequently suffer no immediate loss of consciousness after the traumatic event. Associated linear skull fractures are less common than in adults, and the source of bleeding into the epidural space is generally ruptured epidural veins rather than lacerations of the middle meningeal artery. Hence the evolution of symptoms is slower, and the typical adult picture of immediate loss of consciousness, followed by a brief lucid interval and then collapse, is not seen until adolescence. Often, persistent lethargy and intermittent vomiting are the only initial signs. On early assessment, some affected children and adolescents demonstrate a slowed reaction time, especially when responding to questions (as if there is a processing delay). Severe headache, papilledema, and localizing signs may not emerge for several hours to days. Once neurologic signs and symptoms appear, they may progress rapidly to coma and death or evolve slowly over several days before producing brainstem compression.

Figure 15-44  Pineal region tumor. CT scan of a patient with headache, lethargy, vomiting, and paresis of upward gaze shows an enhancing mass lesion in the pineal region and severe obstructive hydrocephalus. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

blood into the subarachnoid space produces symptoms (e.g., fever, headache, stiff neck) that mimic those of bacterial meningitis. In such cases the correct diagnosis may first be suspected when lumbar puncture yields grossly bloody fluid. The presentation of large subarachnoid hemorrhages is catastrophic, with sudden onset of excruciating headache followed by collapse and evidence of increased intracranial pressure. Head trauma results in increased intracranial pressure by provoking cerebral edema or causing intracranial hemorrhage. The modes of presentation of cerebral contusion, subdural hematoma, and posttraumatic cerebral edema are discussed in Chapter 6. The features of epidural hematoma (Fig. 15-50) in childhood, which differ from those encountered in adults, are emphasized here. Infants and young children with epidural

A

Meningitis Bacterial meningitis (Fig. 15-51; and see Chapter 12, Fig. 12-40, B) produces increased intracranial pressure by causing cerebral edema and impairing reabsorption of CSF. Signs and symptoms are discussed in Chapter 12. Although cerebral edema and intracranial hypertension may complicate the course of viral encephalitis, the usual presentation is with seizures, behavioral change, and altered level of consciousness. Other Causes Pseudomotor Cerebri Pseudotumor cerebri is a syndrome of increased intracranial pressure that occurs in the absence of hydrocephalus or an intracranial mass lesion. The disorder may be associated with the use of certain drugs (e.g., steroids, tetracycline, vitamin A, oral contraceptives); can occur as a complication of otitis media or sinusitis; and can be caused by a variety of endocrine and metabolic disturbances. Another risk factor is obesity. It is also more common in adolescent girls. However, in many instances pseudotumor is idiopathic. The presenting symptom is headache. Papilledema is the rule, and abducens nerve palsy is common (see Figs. 15-39 and 15-40). There may be associated nausea and vomiting, but most children do not appear

B

Figure 15-45  Craniopharyngioma. A, CT scan shows a large, spherical suprasellar mass, obliteration of the third ventricle, and associated hydrocephalus. B, MRI scan provides superior visualization of the anatomic relationship of this tumor with the optic chiasm and hypothalamus. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

Figure 15-46  Cerebellar neoplasms. A, Midline ependymoma filling the fourth ventricle and invading the cerebellar vermis. B, Glioblastoma of the right cerebellar hemisphere. (A, Courtesy Michael Painter, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa; B, courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

A

B

Figure 15-47  Brainstem glioma. This 6-year-old girl had a 2- to 3-month history of personality change, decreased school performance, and intermittent urinary retention and constipation; a 3-week history of ataxia and vague upper back pain; and a 6-day history of severe frontal headache with vomiting after breakfast. She had diplopia secondary to left sixth nerve palsy, nystagmus, right facial weakness, slurred speech, dysphagia with drooling, torticollis, an unbalanced gait with a tendency to list to the left, dysmetria greater on the left, and bilateral papilledema. Her MRI scan showed marked enlargement of the pons resulting from a mass lesion extending into the brainstem and compressing the fourth ventricle, causing hydrocephalus. (Courtesy Charles Fitz, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 15-49  Intracranial hemorrhage. Enhanced MRI scan demonstrating a cerebral hemangioma with associated old hemorrhage. (Courtesy Michael J. Painter, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Figure 15-48  Brain abscess. CT scan demonstrates a low-density mass lesion with an enhancing rim and surrounding edema in an immunosuppressed patient with an Aspergillus abscess. Bacterial abscesses and neoplasms can present a similar CT appearance. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

Figure 15-50  Epidural hematoma. In this patient, blunt head trauma was followed by vomiting, progressive obtundation, and decreased movement of the left arm and leg. The CT scan showed a large, lens-shaped epidural hematoma over the right hemisphere. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

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Figure 15-51  Bacterial meningitis in an infant with fever; lethargy; nuchal rigidity; and a tense, distended fontanelle. The CT scan shows contrast enhancement of the cortical gyri and ependyma of the lateral ventricles. (Courtesy Department of Neuroradiology, University Health Center of Pittsburgh, Pittsburgh, Pa.)

acutely ill. Many patients have visual obscurations. Progressive papilledema may lead to optic atrophy, and treatment is essential to prevent loss of vision. Pseudotumor cerebri is a diagnosis of exclusion. A CT or MRI scan must be done to rule out hydrocephalus or a mass lesion. A magnetic resonance venography (MRV) scan with contrast will evaluate for obstruction of venous outflow tracts, which occurs in conditions such as venous sinus thrombosis or jugular vein compression. Examination of the cerebrospinal fluid is unremarkable apart from increased opening pressure. Neurocysticercosis Neurocysticercosis is another disorder that can present with signs of increased intracranial pressure. It is the most common CNS parasitic infestation worldwide and is endemic in Mexico; Central and South America; and parts of Asia including China, Africa, and India. Neurocysticercosis is being seen with increasing frequency in developed countries, often in immigrants from or recent visitors to endemic areas. Cerebral cysticercosis occurs when larvae of the pork tapeworm (Taenia solium) encyst in CNS tissues. Eating contaminated pork carrying the T. solium larvae leads to acquisition of the intestinal tapeworm. Cysticercosis results from fecal–oral transmission of the ova shed by the adult intestinal tapeworm and is often transmitted to affected children by family, household, or community contacts who carry the adult T. solium tapeworm. After transmission, hematogenous spread to neural, ocular, or muscular tissues can occur. Seizures are the most common presenting sign of neurocysticercosis and are often accompanied by headache. Less commonly, patients can develop meningitis as a result of inflammatory reactions to ruptured cysts or they may present with signs and symptoms of increased intracranial pressure due to obstruction of CSF pathways by cysts, resulting in noncommunicating hydrocephalus. Findings on neuroimaging vary depending on the stage of development of the organism and range from nonenhancing cysts to ringenhancing lesions to calcified nodules. Lesions may be single or multiple. Single enhancing cysts are most common in children living in North America (Fig. 15-52).

FACIAL WEAKNESS The cortical motor center controlling the muscles of facial expression is located in the lower third of the precentral gyrus (Fig. 15-53). Motor fibers arising in the cerebral cortex travel

Figure 15-52  Neurocysticercosis. This 12-year-old presented with focal seizures and chronic headaches after recent travel to an endemic area. MRI revealed a small ring-enhancing cyst in the left temporal lobe with surrounding edema, thought to be consistent with neurocysticercosis. (Courtesy Patricia Crumrine, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

through the corona radiata, internal capsule, and cerebral peduncle into the pons, where the majority decussate to supply the facial (seventh) nerve nucleus on the opposite side. Some fibers, destined to terminate in the portion of the facial nerve nucleus that innervates muscles in the upper half of the face, do not decussate. Thus whereas the portion of the facial nerve nucleus that supplies the lower half of the face receives

Cortical facial center

Upper motor neuron lesion

Facial nerve nucleus Fibers to frontalis and orbicularis oculi

Lower motor neuron lesion

Fibers to other facial muscles

Figure 15-53  Central motor control of the facial muscles. The portion of the facial nerve nucleus that supplies the lower half of the face receives predominantly crossed fibers originating from the opposite cerebral hemisphere; the portion that innervates the upper half receives fibers from both cerebral hemispheres. (Modified from Haymaker W: Bing’s local diagnosis in neurological diseases, ed 15, St. Louis, 1969, Mosby.)

608

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 15-54  Peripheral facial weakness. Flaccid weakness of the entire left face resulting from a lesion of the left facial nerve. A, Flattening of the nasolabial fold and inability to retract the corner of the mouth. B, Inability to fully close the eye.

predominantly crossed fibers originating from the opposite cerebral hemisphere, the portion that innervates the frontalis muscle and the orbicularis oculi muscle has bilateral supranuclear control.

Peripheral Facial Weakness A lesion of the seventh nerve nucleus or emergent facial nerve results in flaccid weakness of the entire face on the same side. On the affected side the face is smooth, with flattening of the nasolabial fold; drooping of the corner of the mouth; and inability to smile, frown, retract the corner of the mouth, wrinkle the forehead, or close the eye (Fig. 15-54). Causes of peripheral facial weakness include infection, trauma, hypertension, a cerebellopontine angle mass, tumors of the pons, and acute idiopathic paralysis (Bell palsy).

Central Facial Weakness With a lesion above the level of the facial nerve nucleus (i.e., an upper motor neuron lesion), there is weakness of the lower part of the face on the opposite side but relative sparing of the upper portion of the face. The ability to wrinkle the forehead (frontalis muscle) and to voluntarily close the eyes (orbicularis oculi muscle) is preserved (Fig. 15-55).

NEUROMUSCULAR DISORDERS Weakness is the most common presenting symptom of neuromuscular disease. If time is taken to determine the ways in which the weakness interferes with normal activities and uncover the types of tasks that the patient finds difficult, the distribution and severity of muscle weakness can be predicted from the clinical history. Determining the mode of onset and pattern of progression of the symptoms is essential in the differential diagnosis and selection of diagnostic studies. Because many neuromuscular disorders are genetically determined, a complete family history must be obtained. Essential components of the physical examination of patients with neuromuscular disease include inspection, palpation, percussion, evaluation of deep tendon reflexes, and assessment of muscle strength. Inspection can reveal muscle wasting and atrophy (or, conversely, hypertrophy), abnormal spontaneous activity, and abnormal resting postures. Palpation permits assessment of muscle consistency, determination of muscle tone (with observation of resistance to passive

motion), and detection of muscle tenderness. Percussion is useful in detecting myotonia. Assessment of muscle strength includes individual muscle testing and functional evaluation. The strength of individual muscles is recorded, using a standardized system such as the following: 0: No contraction 1: Flicker or trace contraction 2: Active movement with gravity eliminated 3: Active movement against gravity 4: Active movement against gravity and resistance 5: Normal power Functional evaluation of muscle strength is accomplished by observing the patient rising from the floor, rising from a chair, stepping onto a stool, climbing stairs, walking on the heels, hopping on the toes, and raising the arms above the head. This evaluation permits rapid detection of proximal weakness of the hips and shoulders and distal weakness of the legs.

Duchenne Muscular Dystrophy The muscular dystrophies are genetically determined disorders characterized by progressive degeneration of skeletal muscle, usually after a latency period of seemingly normal development and function. The various clinical types of muscular dystrophy are traditionally classified on the basis of patterns of inheritance, distribution of initial weakness, age of onset of clinical manifestations, and rate of progression (Table 15-7). Duchenne muscular dystrophy, affecting 1 in 3500 male births, is characterized by X-linked recessive inheritance; early onset; symmetrical and initially selective involvement of pelvic and pectoral girdles; pseudohypertrophy of the calves; high levels of activity of certain serum enzymes, notably creatine kinase; and relentless progression leading to wheelchair confinement by adolescence and death from cardiorespiratory insufficiency by age 20 years. Duchenne muscular dystrophy is caused by a deletion mutation affecting the Xp21 region on the short arm of the X chromosome. Dystrophin, the large cytoskeletal protein normally encoded by this gene locus, is absent from the muscle fibers of patients with Duchenne muscular dystrophy. The precise function of dystrophin in maintaining the integrity of muscle and the mechanism by which dystrophin deficiency produces progressive muscle destruction remain to be determined. Becker muscular dystrophy, an allelic disorder affecting 1 in 30,000 male births, is distinguished clinically by later

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A

B

C

D

609

Figure 15-55  Central facial weakness. A and B, Weakness of the left face with relative sparing of the upper portion secondary to a lesion of the right cerebral hemisphere. There is flattening of the nasolabial fold and inability to retract the corner of the mouth, but the ability to close the eye and wrinkle the forehead is preserved. C and D, CT scans show the depressed fracture of the temporal bone that was responsible for this central facial palsy.

age at onset, slower rate of progression, and longer survival and biochemically by the presence of dystrophin of abnormal molecular weight. Approximately 70% of patients with Duchenne or Becker muscular dystrophy have detectable dystrophin mutations on routine DNA testing of peripheral blood. The remaining 30% are diagnosed by dystrophin analysis of muscle biopsy tissue.

Table 15-7

Clinical manifestations of Duchenne muscular dystrophy do not usually appear until the second year of life or later. Early developmental milestones are normally attained, although the first attempts at walking may be delayed. Gait is often clumsy and awkward from the start, and the ability to run is never normally attained. Difficulty in climbing stairs, frequent falls, and progressive difficulty in rising from the floor are early

Clinical Features of the Muscular Dystrophies Duchenne

Becker

Facioscapulohumeral

Limb-Girdle

Myotonic

Inheritance Age at onset

X-linked recessive Early childhood Pelvic girdle, shoulder girdle Rapid Pseudohypertrophy of calves Mental retardation, abnormal electrocardio­ gram,  cardiomyopathy

Autosomal dominant Variable: childhood through early adult life Face, shoulder girdle Very slow None

Autosomal recessive Childhood to early adulthood Pelvic girdle, shoulder girdle Variable Pseudohypertrophy rare

Autosomal dominant Highly variable

Pattern of weakness

X-linked recessive Late childhood, adolescence Pelvic girdle, shoulder girdle Slow Pseudohypertrophy of calves Occasional mental retardation

None

None

Frequent mental retardation, heart block, cataracts, premature balding, testicular tubular atrophy, diabetes

Rate of progression Associated features Systemic features

Face, distal limbs Variable Myotonia

610

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

abnormal rotation of the scapulae (Fig. 15-59, A). In addition, spontaneous winging of the scapulae may be prominent (Fig. 15-59, B). Weakness of the neck flexors, as evidenced by marked head lag when the child is pulled to sit from the supine position (Fig. 15-60), is an early finding. Enlargement of muscles, particularly in the calves (Fig. 15-61), is a common feature by 5 or 6 years of age. The abnormally enlarged muscles have an unusually firm, rubbery consistency on palpation. Early in the clinical course, this increase in muscle volume may result from true hypertrophy, with muscle strength proportional to bulk. Later, infiltration by fat and connective tissue sometimes maintains this bulk despite loss of muscle fibers. This is called pseudohypertrophy.

Charcot-Marie-Tooth Disease

Figure 15-56  Duchenne muscular dystrophy. This child, age 5, has difficulty rising from the floor. Unilateral hand support on the knee is required to get erect.

features. To rise from the floor, the child may at first need only to push with one hand on a knee (Fig. 15-56). However, as weakness of the extensors of the hips becomes more pronounced, rising from the floor becomes increasingly difficult and requires the use of the hands to “climb up the legs” (the Gower maneuver) (Fig. 15-57). Progressive gluteal weakness leads to the assumption of a compensatory posture characterized by a broadened base, accentuated lumbar lordosis, and forward thrusting of the abdomen (Fig. 15-58). Although weakness of the arms is not a common early symptom, proximal upper extremity weakness is easily detected on clinical examination when the child is lifted with the examiner’s hands placed beneath the arms. There is marked laxity of the shoulder girdle musculature associated with upward displacement of the shoulders and

Charcot-Marie-Tooth disease, also known as hereditary motorsensory neuropathy type I (HMSN-I), is an autosomal dominant demyelinating form of peroneal muscular atrophy. DNA studies have distinguished two genetic disorders, HMSN-IA, associated with a gene mutation of chromosome 17, and HMSN-IB, caused by a mutation on chromosome 1. Both share similar clinical features. The onset of symptoms is usually in the second decade, with presenting complaints being foot deformities and gait abnormalities. Often, pes cavus or hammer-toe deformities develop in early childhood long before more overt symptoms appear (see Chapter 21, Fig. 21-109). The clinical picture is quite variable, and because most affected persons do not consult a physician for their neurologic problems, the majority of cases remain undiagnosed. The astute physician considers the diagnosis when a patient who presents with unrelated symptoms is found to have pes cavus or hammer-toes and symmetrical distal weakness. Muscle weakness and atrophy begin insidiously in the foot and leg muscles. The intrinsic muscles of the foot are often affected first, followed by involvement of the peroneal, anterior tibial, long toe extensor, intrinsic hand, and gastrocnemius muscles. Weakness and atrophy may even spread to the

A

D

B

E

F

C

G

H

Figure 15-57  The Gower maneuver. This series of diagrams illustrates the sequence of postures used in attaining the upright position by a child with Duchenne muscular dystrophy. A-C, First, the legs are pulled up under the body, and the weight is shifted to rest on the hands and feet. D, The hips are then thrust in the air as the knees are straightened, and the hands are brought closer to the legs. E-G, Finally, the trunk is slowly extended by the hands walking up the thighs. H, The erect position is attained.

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611

Figure 15-60  Neck muscle weakness in Duchenne muscular dystrophy. This 5-year-old boy has neck flexor weakness. Note the marked head lag when the patient is pulled to sit from the supine position.

Figure 15-58  Compensatory posture in Duchenne muscular dystrophy. These brothers, ages 5 and 8, show the progression of compensatory postural adjustments with broadening of stance, accentuated lumbar lordosis, and forward thrusting of the abdomen, all more pronounced in the older boy.

more proximal muscles of the leg and forearm. The degree of muscle wasting is often mild; however, in some cases the loss of muscle mass in the distal lower extremities is severe, giving rise to a striking “stork-leg” appearance (Fig. 15-62, A). With involvement of the distal upper extremities there may be obvious wasting of the intrinsic hand muscles and development of secondary “claw-hand” deformities (Fig. 15-62, B). Deep tendon reflexes are lost first in the gastrocnemius and soleus muscles, and subsequently in the quadriceps femoris muscle and upper limbs. Sensation may be mildly impaired in the distal lower extremities.

Congenital Cervical Spinal Atrophy Congenital cervical spinal atrophy is a rare disorder that is manifested at birth by dramatic flaccid paresis of the upper extremities (Fig. 15-63, A). The presence of congenital flexion contractures suggests chronic denervation that must have

A

B Figure 15-59  Shoulder girdle weakness in Duchenne muscular dystrophy. A, This child, age 5, demonstrates weakness and hypotonia of the shoulder girdle musculature. Upward displacement of the shoulders and abnormal rotation of the scapulae are seen when the child is lifted with the examiner’s hands under his arms. B, Spontaneous winging of the scapulae can be noted in this 8-year-old.

Figure 15-61  Pseudohypertrophy in Duchenne muscular dystrophy. Note the enlargement of the calves in brothers, ages 5 and 8.

612

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A

Figure 15-62  Charcot-Marie-Tooth disease. A, This patient, age 15, with distal muscular atrophy of the lower extremities demonstrates the “stork-leg” appearance. B, She also has atrophy of the forearm and intrinsic hand muscles resulting in a “claw-hand” deformity.

occurred in utero and allows this syndrome to be distinguished from injury to the cervical spine or brachial plexuses during delivery (see Chapter 2). Abnormalities in the formation of the transverse palmar creases are present in all cases (Fig. 15-63, B and C), suggesting an antenatal insult during the first trimester. The disorder is nonprogressive.

Myotonia Congenita Myotonia congenita is an inherited disorder of skeletal muscle in which muscle stiffness is the only complaint. Autosomal dominant and autosomal recessive forms are related to different mutations of the skeletal muscle chloride channel gene on chromosome 7. The clinical symptoms are rather stereotypic. After a period of inactivity, the muscles stiffen and are difficult to maneuver; however, with continued activity, the stiffness diminishes and movement becomes almost normal. Typically, the child moves clumsily with a stiff, awkward gait and falls often. However, as activity continues, the child begins to walk freely and with adequate “warm-up” can run without difficulty.

A

B

Generalized muscular hypertrophy is a frequent finding on examination, with affected children often having an unusually well-developed, athletic appearance (Fig. 15-64). This belies their sedentary habits and physical ineptitude resulting from muscle stiffness. Clinically, myotonia may be demonstrated by observing delayed relaxation of the muscles after sustained voluntary contraction such as clenching of the hand. Myotonia may also be elicited by percussion of the thenar eminence (Fig. 15-65).

THE HYPOTONIC INFANT Because depression of muscle tone is clinically manifest by paucity of movement, unusual postures, diminished resistance to passive movement, and increased range of movement of joints, the hypotonic infant has been likened to a rag doll. The legs lie externally rotated and abducted, with their lateral surfaces in contact with the bed while the arms are extended at the sides or flexed so that the hands lie beside the head. When the infant is pulled up by the hands from the supine position (traction response), the head falls into extreme

C

Figure 15-63  Congenital cervical spinal atrophy. A, This 2-day-old infant has flaccid paresis limited to the upper extremities and associated congenital flexion contractures. B, Wasting and atrophy of the intrinsic hand muscles with flexion contractures of the fingers and poorly developed transverse palmar creases (C) were also present.

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Table 15-8

613

Differential Diagnosis of Hypotonia

Disorders of the CNS

Disorders of the PNS

Chromosome disorders   Trisomy   Prader-Willi syndrome   Other Other genetic defects Static encephalopathies   Congenital malformation   Perinatal acquired encephalopathy   Postnatal acquired encephalopathy Inborn errors of metabolism   Amino acid disorders   Organic acid disorders   Urea cycle disorders   Peroxisomal disorders   Lysosomal disorders Neonatal spinal cord injury

Spinal muscular atrophies Congenital polyneuropathies Transient neonatal myasthenia Congenital myasthenic syndromes Congenital muscular dystrophy   Myotonic dystrophy   Fukuyama-type dystrophy   Other Congenital myopathies Metabolic myopathies Systemic illness Benign congenital hypotonia

CNS, central nervous system; PNS, peripheral nervous system.

requires functional integrity of both the CNS and PNS, hypotonia is a common symptom of many disorders affecting the brain, spinal cord, peripheral nerves, and muscles (Table 15-8). Hypotonia also occurs as a nonspecific manifestation of systemic illness. The term benign congenital hypotonia is reserved for infants with isolated depression of postural tone that resolves with growth and maturation, usually by 1 year of age. It is often a diagnosis of exclusion.

Figure 15-64  Body habitus in myotonia congenita. This 8-year-old boy demonstrates generalized muscular hypertrophy, giving him a well-developed, athletic appearance.

extension, and the limbs fail to flex to counter the traction (Fig. 15-66, A). In horizontal suspension with the chest and abdomen supported by the examiner’s hand, the infant with hypotonia drapes limply like an inverted U, and when held under the arms, tends to slip through the examiner’s hands (Fig. 15-66, B). Because maintenance of normal postural tone

A

CHILDHOOD EPILEPSY The overall incidence of epilepsy follows a bimodal distribution, peaking in children younger than 5 years of age and in adults older than 65 years of age. A classification of epileptic seizures detailed in Table 15-9 divides them into those of focal onset (partial seizures) and those with bilateral cortical representation from the outset (generalized seizures). Simple partial seizures have no associated impairment of consciousness and may represent simple motor or sensory phenomena. Patients with complex partial seizures experience seizure spread to cortical and subcortical areas resulting in alteration in consciousness. Some partial seizures may secondarily

B

Figure 15-65  Myotonia congenita, delayed muscle relaxation. Percussion of the thenar eminence (A) is followed by involuntary opposition of the thumb and visible contraction of the muscles of the thenar eminence (B), which lasts for several seconds.

614

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 15-66  Hypotonic infant. A, Abnormal traction response. When the infant is pulled up from the supine position, her head falls into extreme extension and her arms fail to flex to counter the traction applied by the examiner. B, When held under the arms, she tends to slip through the examiner’s hands.

generalize to contralateral brain areas, with loss of consciousness, often with bilateral convulsive features. Generalized seizures may be convulsive or nonconvulsive in nature. In children, nonconvulsive generalized seizures often present as absence epilepsy. Other generalized seizures such as tonic, tonic–clonic, atonic, and myoclonic are defined by the type of motor activity observed. Absence seizures are typically brief in duration (5 to 20 seconds) and are characterized by sudden staring or arrest of activity with abrupt recovery. They are often associated with facial automatisms such as eye flutter, chewing, or ocular supraversion (Fig. 15-67). The incidence of absence epilepsy peaks in children between the ages of 3 and 8 years; however, onset can occur in adolescence. The disorder has a strong genetic predisposition and usually occurs in children who are

Table 15-9

Classification of Epileptic Seizures

Current Terminology

Other Names

1.  Partial seizures   Simple partial (consciousness not impaired)    Motor signs    Special sensory (visual, auditory, gustatory, vertiginous, or somatosensory)    Autonomic    Psychic (déjà vu, fear, and others)   Complex partial (consciousness impaired)    Impaired consciousness at onset    Development of impaired consciousness 2.  Generalized seizures   Absence (nonconvulsive)    Typical    Atypical   Tonic–clonic   Atonic   Myoclonic   Tonic   Clonic 3.  Unclassified

Jacksonian, adversive, or focal motor seizures

otherwise neurologically and intellectually normal. It is often outgrown by late childhood or during adolescence. A typical electroencephalogram (EEG) pattern seen in affected individuals consists of generalized three-per-second spike-and-wave discharges (Fig. 15-68), which can be activated by hyperventilation. Between 40% and 60% of patients with absence seizures go on to experience a generalized tonic–clonic convulsion. Infantile spasms typically begin before age 2 years, with a peak age at onset between 4 and 6 months. They are classified as flexor, extensor, and mixed flexor–extensor types and are characterized by brief contractions of the neck, trunk, and extremities with the head thrown backward or forward in association with flexion and/or extension of the limbs. They often occur in clusters throughout the day, with greater frequency on awakening or falling asleep. Early in the course of the disorder, they may be mistaken for colic, hiccups, or gastroesophageal reflux. Etiologic origin of infantile spasms is varied and may include metabolic disorders, cerebral malformations, congenital infections, anoxic injury, and neurocutaneous disorders. However, up to 20% of cases are idiopathic or cryptogenic in origin. Tuberous sclerosis is the major single identifiable cause of infantile spasms, accounting for 7% to

Abdominal epilepsy Psychomotor, temporal lobe

Petit mal Grand mal, major motor Akinetic, drop attacks Minor motor Infantile spasms

Modified from Commission on Classification and Terminology of the International League Against Epilepsy: Proposal for revised clinical and electroencephalographic classification of epileptic seizures, Epilepsia 22:489– 501, 1981.

Figure 15-67  Absence seizure. This 8-year-old girl had a history of brief staring spells reported by teachers and family. Typical absence seizures, recorded during a video electroencephalogram with staring and ocular supraversion lasting under 10 seconds, could be activated by hyperventilation.

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Figure 15-68  Absence seizure. This electroencephalographic tracing shows the typical three-per-second (3 Hz) generalized spike-and-wave discharges characteristic of absence seizures.

615

Fp1–F7 F7–T3 T3–T5 T5–O1 Fp2–F8 F8–T4 T4–T6 T6–O2 Fp1–F3 F3–C3 C3–P3 P3–O1 Fp2–F4 F4–C4 C4–P4 P4–O2 Fz–Cz Cz–Pz EKG–PG LE–A1 RE–A2 PHO–STM LP1.0 HF38 200 wV 10 S

25% of cases. Patients who have a known underlying disorder and infantile spasms have a higher incidence of developmental impairment than those of unknown cause. Neuroimaging is abnormal in 70% to 80% of affected children. The EEG in patients with infantile spasms often demonstrates a hypsarrhythmia pattern with markedly abnormal background features and multifocal high-voltage epileptic discharges, and it may show a burst–suppression pattern in sleep (Fig. 15-69). The triad of hypsarrhythmia, infantile spasms, and developmental delay is commonly referred to as West syndrome. More than 50% of patients with infantile spasms develop other forms of epilepsy later in life.

Tics include a wide array of movements and sounds. They are involuntary, sudden, repetitive movements or vocalizations. They typically wax and wane, with old tics being replaced by new ones. Up to 25% of children may have a transient simple tic disorder lasting less than 1 year. The presence of multiple tics lasting longer than 1 year with both vocal and motor varieties fulfills diagnostic criteria for Tourette syndrome. Attention-deficit/hyperactivity disorder, obsessive–compulsive disorder, and learning disabilities are commonly seen in addition to tics in patients with Tourette syndrome.

Shuddering Attacks

PAROXYSMAL MOVEMENT DISORDERS OF CHILDHOOD Paroxysmal (nonepileptic) movement disorders are relatively common in the pediatric population. They are manifest by excessive involuntary movement (dyskinesia) that is episodic and often stereotypic with preservation of consciousness.

Figure 15-69  Infantile spasms. This electroencephalograph tracing shows the hypsarrhythmia pattern consisting of markedly disorganized background and high-voltage multifocal epileptic spikes often found in patients with infantile spasms.

Tic

Shuddering (shivering) spells are characterized by flexion of the head, trunk, elbows, and knees with adduction of the limbs and are often described as a “chill” or as having a sense of “ice water being poured down one’s back.” They represent a benign movement disorder often starting in infancy and usually abating in childhood.

Fp1–F7 F7–T3 T3–T5 T5–O1

A S

Fp2–F8 F8–T4 T4–T6 T6–O2 Fp1–F3 F3–C3 C3–P3 P3–O1 Fp2–F4 F4–C4 C4–P4 P4–O2 Fz–Cz Cz–Pz EKG–PG LE–A1 RE–A2 PHO–STM LP1.0 HF70 200 wV 10 S

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Startle Disease A startle response is a brief motor response to an unexpected stimulus (auditory, tactile, visual, or vestibular) that readily habituates (e.g., diminishes with repeated exposure). Hyperekplexia (startle disease) is characterized by a nonhabituating, exaggerated startle response to stimuli often followed by a tonic spasm. Affected children often have hypertonia in infancy, feeding difficulties, and apnea. The startle response can be elicited in hyperekplexic patients by tapping on the forehead, nose, glabella, or vertex of the skull. The course of the disease is variable, and cognitive abilities are not affected.

Head Bobbing Head bobbing consists of jerky head movements at a frequency of two to three cycles per second and resembles that of a doll’s head atop a spring. In childhood it may appear as part of spasmus nutans or the bobble-head doll syndrome. Spasmus nutans is a benign disorder of unknown etiology that occurs in early infancy and is characterized by nystagmus (binocular or monocular), head nodding, and head tilt. Neurologic examination is otherwise normal. The syndrome lasts 1 to 2 years and spontaneously resolves. The bobble-head doll syndrome consists of intermittent head nodding and is seen in association with an underlying CNS structural abnormality, often a third ventricular cyst or tumor.

Chorea or Choreoathetosis Chorea consists of random, brief, rapid, purposeless jerking movements of the limbs, face, tongue, or trunk, whereas choreoathetosis is characterized by slow writhing movements that often are more prominent on one side of the body. Sydenham chorea (St. Vitus dance) is the most prevalent form of acquired chorea in childhood. It is a manifestation of poststreptococcal rheumatic fever and often begins insidiously weeks to months after a streptococcal infection that may or may not have been symptomatic. It is characterized by choreiform movements, emotional lability, and hypotonia. Behavior change, decline in school performance, and anxiety are common associated features. The disorder usually resolves after several months, although recurrences may be triggered by new episodes of streptococcal infection, pregnancy (chorea gravidarum), or

oral contraceptive use. Other, less common causes of chorea and/or choreoathetosis in childhood include Wilson disease, Huntington disease, systemic lupus erythematosus, and hyperthyroidism. Bibliography Bell WE, McCormick WF: Increased intracranial pressure in children, ed 2, Philadelphia, 1978, WB Saunders. Brooke MH: A clinician’s view of neuromuscular diseases, ed 2, Baltimore, 1987, Williams & Wilkins. Chao DH: Congenital neurocutaneous syndromes of childhood. III. SturgeWeber disease, J Pediatr 55:635–649, 1959. Dubowitz V: The floppy infant, ed 2, Philadelphia, 1980, JB Lippincott. Emery AEH: Duchenne muscular dystrophy, ed 2, Oxford, 1993, Oxford University Press. Enjolras O, Riche MC, Merland JJ: Facial port-wine stains and Sturge-Weber syndrome, Pediatrics 76:48–52, 1985. Fenichel GM: Clinical pediatric neurology: A signs and symptoms approach, ed 5, Philadelphia, 2005, WB Saunders. Goldstein SM, Curless RG, Post JD, Quencer RM: A new sign of neurofibromatosis on magnetic resonance imaging of children, Arch Neurol 46:1222– 1224, 1989. Gomez MR, editor: Tuberous sclerosis, ed 2, New York, 1998, Raven Press. Hoffman EP, Fishbeck KH, Brown RH, et al: Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy, N Engl J Med 318:1363–1368, 1988. International League against Epilepsy, Commission on Classification and Terminology: Proposal for a revised classification of epilepsies and epileptic syndromes, Epilepsia 26:268–278, 1985. Martuza RL, Eldridge R: Neurofibromatosis 2, N Engl J Med 318:684–688, 1988. Menkes JH: Textbook of child neurology, ed 5, Philadelphia, 1995, Lea & Febiger. Mitchell WG: Current therapy in neurologic disease: Cerebral cysticercosis in North American children, Eur Neurol 37:126-129, 1997. Osborne JP: Diagnosis of tuberous sclerosis, Arch Dis Child 63:1423–1425, 1988. Paller AS: The Sturge-Weber syndrome, Pediatr Dermatol 4:300–304, 1987. Riccardi VM: Von Recklinghausen neurofibromatosis, N Engl J Med 305:1617– 1627, 1981. Riccardi VM, Eichner JE: Neurofibromatosis: Phenotype, natural history and pathogenesis, ed 2, Baltimore, 1992, Johns Hopkins University Press. Roach ES, Gomez MR, Northrup H: Tuberous Sclerosis Complex Consensus Conference: Revised clinical diagnostic criteria, J Child Neurol 13:624–628, 1998. Roach ES, William DP, Laster DW: Magnetic resonance imaging in tuberous sclerosis, Arch Neurol 44:301–303, 1987. Swaiman KF, Ashwal S: Pediatric neurology: Principles and practice, ed 3, St. Louis, 1999, Mosby. Warkany J, Lemire RJ, Cohen MM: Mental retardation and congenital malformations of the central nervous system, St. Louis, 1981, Mosby.

16 

PULMONARY DISORDERS Daniel J. Weiner  |  Jonathan D. Finder

Respiratory disease is one of the most common reasons that

pediatric patients seek medical attention. Signs and symptoms can be subtle, and a careful history and physical examination are always useful in assessment of pediatric patients with respiratory complaints. Diseases of the chest can be divided into two major categories: acquired and congenital. Congenital chest diseases are often symptomatic at all times rather than episodically. A child who has chronic noisy breathing from a congenital vascular ring, for example, is not as likely as the patient with asthma to have intermittent periods of wheezing with long intervals of normal breathing. The spectrum of diseases involving the pediatric respiratory system is primarily dependent on the age of the patient; therefore age must be a primary consideration in the differential diagnosis.

HISTORY Each pediatric history should include the perinatal history. A history of respiratory distress at birth or intubation, however brief, is important. Prematurity with prolonged need for supplemental oxygen may suggest bronchopulmonary dysplasia with associated structural lung abnormalities. Noisy breathing starting early in life suggests congenital airway obstruction and should be evaluated. Regardless of cause, failure to thrive is a worrisome finding, whereas excellent weight gain in a child with noisy breathing is reassuring. Distinguishing between constant and intermittent symptoms can be one of the most important means of diagnosing diseases of the pediatric chest. A good “cough history” and “wheeze history” are important and have similar elements. The clinician should inquire about the chronicity of the symptoms; association with feeding; upper respiratory infections; exposures (pets, dust, and especially cigarette smoking are important); and fevers. The effect—or lack thereof—of medications may give important diagnostic information (but may also be confounded by improper administration technique). The nature of the cough is important: wet or dry, paroxysmal or continuous, and staccato (as seen in neonatal chlamydial pneumonia) are important descriptive terms. Post-tussive emesis is a “red flag” to the clinician. The cough that awakens the child at night or keeps the child up much of the night is another worrisome historical finding. Conversely, a persistent cough that disappears in sleep strongly suggests the diagnosis of habit (psychogenic) cough. In pursuing a history of wheeze, it is important to ask the parents or historians what they mean by the term; it may mean “noisy breathing,” and it may even be applied to stridor. In evaluating the infant with frequent episodes of cough and/or wheeze, the clinician should inquire about symptoms and signs of gastroesophageal reflux (GER): food refusal, arching, pain behaviors, frequent spitting, milk or formula found on the bed next to the infant’s head in the morning,

recurrent croup, hoarseness, and laryngomalacia. Because reflux is worse when the patient is lying down, symptoms tend to be more prominent at night and during naps. A family history of atopy including eczema and environmental allergies should be investigated. In inquiring about cystic fibrosis, an autosomal recessive trait, an extended family medical history including grandparents and cousins should be taken. Frequent infections in parents or siblings, particularly those requiring hospitalization, suggest possible immunodeficiency in the family. Immunization history is essential in identifying patients at risk for pertussis. Often, parents state that the immunizations are up to date, although the child has in fact not had any pertussis vaccinations. Immunization avoidance occurs commonly owing to publicity given to well-disproven theories of immunization-induced autism. Exercise intolerance is one of the primary symptoms of respiratory disease. The neonate’s main output of energy is in feeding, and thus difficulties with feedings should be monitored; toddlers are expected to keep up with peers and/or siblings in play; the school-age child’s gym performance should be scrutinized. Wheezing or coughing fits after vigorous exercise can occur in asthma.

PHYSICAL EXAMINATION Examination of the chest in any uncooperative patient is notoriously difficult, but it can be easily accomplished with patience and a few tricks. The infant or toddler is best examined with his or her shirt off while being held upright in the arms of a parent. The patient should face the parent; this maximizes contact with the parent and allows the patient to feel safe. The room should be at a comfortable temperature. The stethoscope head should be warmed in the clinician’s hand or pocket for several minutes before use. The classic four steps in the physical examination—inspection, palpation, percussion, and auscultation—are well applied to the examination of the pediatric chest.

Inspection Decreased subcutaneous adipose tissue as seen in a patient with cystic fibrosis should be noted. The pattern of breathing should always be evaluated with the child disrobed. Any use of expiratory musculature is abnormal. Suprasternal and intercostal retractions reflect excessive negative pleural pressure and can be seen in normal children with thin chest walls after vigorous exercise. Subcostal retractions are always pathologic and are the result of hyperinflated lungs and a flattened diaphragm pulling inward on the chest wall. In advanced lung disease the use of accessory muscles of inspiration can be noted; the sternocleidomastoid muscle, for example, helps lift the chest (in a “bucket handle” fashion) and increase its 617

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anteroposterior diameter, thereby increasing intrathoracic volume. In respiratory muscle fatigue, a pattern of breathing can be observed in which the diaphragm alternates with the intercostal muscles to inflate the lungs. This is known as respiratory alternans and is seen as alternating abdominal and chest expansion instead of the usual pattern of simultaneous chest and abdominal expansion. Chest wall deformities such as pectus excavatum or pectus carinatum (see Chapter 17) should be noted.

Palpation Palpation of the chest can reveal significant findings. The examiner places the hands on either side of the chest as the patient takes a deep breath. The chest should expand symmetrically; asymmetry can be seen in unilateral pulmonary hypoplasia, mainstem bronchial obstruction, and diaphragmatic paresis. Placing fingertips on the upper abdomen just over the insertion of the rectus muscles into the lower rib cage can reveal subtle use of expiratory muscles in children with peripheral (lower) airway obstruction. Similarly, the anterior lower ribs should be assessed with the fingertips. In infants with obstructive lung disease, the lower ribs can be felt to pull inward on inspiration. This is the palpable aspect of a subcostal retraction. With the patient’s head in the midline position, the trachea should be palpated at the sternal notch to evaluate for tracheal deviation, as is seen with mediastinal shift. Vocal fremitus should be assessed in patients with suspected pleural fluid accumulation; the vibrations transmitted from the larynx as the child says “99” are diminished when there is an accumulation of air or fluid in the pleural space. Infants and children with tracheomalacia and bronchomalacia often have a palpable vibration in the back. Palpable vibrations in only one hemithorax suggest a partial obstruction of the mainstem bronchus in that hemithorax as seen in bronchomalacia.

Percussion Percussion of the chest can reveal much more than hyperresonance and dullness over an area of consolidation. Air trapping is the hallmark of small-airway disease and results in a depressed position of the diaphragm. Ordinarily the diaphragm can be found just at or slightly below the tip of the scapula when the patient’s arm is at his or her side in children 5 years and younger. In the patient with hyperinflation, the diaphragm is found several fingerbreadths below the scapular tips. This finding, even in the absence of wheezing on auscultation, suggests a lesion of the small airways. An area of consolidation or pleural effusion results in dullness to percussion. Another disorder causing asymmetry of percussion of the two hemithoraces is diaphragmatic eventration, a congenital lesion of the diaphragm in which the diaphragm is replaced with a thin fibrous membrane without contractile properties. Postoperative diaphragmatic paralysis (rarely found after cardiac surgery) can be diagnosed by percussion of the cooperative patient while holding his or her breath at maximal inspiration and at end-expiration.

crackles (formerly referred to as rales) are discontinuous. Wheezes and crackles can be inspiratory or expiratory, although crackles are more commonly heard on inspiration and wheezes are more commonly heard on expiration. Wheezes probably arise from the vibration within the walls of narrowed large- and medium-sized airways. In a patient experiencing an acute exacerbation of asthma, the lungs have wheezes in a range of pitches (described as polyphonic) with substantial regional differences in auscultation. Patients with central airway obstruction such as tracheomalacia, on the other hand, have a single pitch of wheeze that sounds the same in all lung fields (monophonic) and is heard loudest over the central airway that is obstructed. Foreign bodies can cause a monophonic wheeze that can vary in pitch depending on the degree of obstruction. Crackles are believed to arise from the popping of fluid menisci within airways. The crackles heard in the lungs of patients with interstitial lung disease have yet to be explained adequately but may arise from the popping open of small airways. Coarse crackles are often audible at the mouth and are a late finding in patients with cystic fibrosis with advanced bronchiectasis. “Rhonchi” refers to the sound made by pooled secretions in the central airways, which can be categorized as harsh, low-pitched central wheezes or coarse, central crackles (depending on the nature of the sounds heard). Other sounds that can be heard include friction rubs, which are creaking sounds heard during both phases of respiration as inflamed pleural surfaces rub over one another. One of the most important abnormal findings in children is the absence of breath sounds over an area of collapse or consolidation. Phase delay in air entry (such as in unilateral bronchial obstruction) can be detected only with a differential (doubleheaded) stethoscope (Fig. 16-1). The notion that the examination of the lungs begins at the fingertips is an important one, as digital clubbing may point to the presence of lung disease. Various stages of clubbing, from mild to severe, are depicted in Figures 16-2 and 16-3. Not all digital clubbing is associated with pulmonary disease (Table 16-1); nonpulmonary causes include cardiac, inflammatory, gastrointestinal, hepatic, and familial, as well as clubbing observed with thyrotoxicosis. Bronchiectasis from cystic fibrosis or from other chronic infectious causes is the major cause of clubbing among all pulmonary diseases. Digital clubbing in any child with a chronic cough or wheezing warrants a thorough evaluation and investigation to determine the underlying disorder. The astute pulmonologist will carefully examine the remainder of the patient. The examination should also include

Auscultation Auscultation of the pediatric chest requires patience. One often must wait a minute or two for a deep breath in order to appreciate abnormal breath sounds that are not apparent on shallow breathing. Augmenting the expiratory phase with a gentle squeeze of the thorax while listening with the stethoscope may bring out expiratory wheezes. Abnormal (“adventitial”) breath sounds include crackles and wheezes. Wheezes are continuous sounds, whereas

Figure 16-1  Differential stethoscope. A differential, or double-headed, stethoscope can be made from a Sprague-Rappaport type stethoscope by adding two chest pieces as shown. This allows for simultaneous auscultation of homologous lung segments. Certain findings can be found only with this stethoscope, including phase delay (typical of foreign body aspiration).

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0

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Figure 16-2  Digital clubbing. The 0- to 4-point scale describes the spectrum of digital clubbing as follows: 1+, very mild; 2+, mild; 3+, moderate; and 4+, severe.

evaluation for nasal polyps (see Fig. 16-30), which can be associated with cystic fibrosis, triad asthma, or significant atopy. An increased second heart sound could suggest pulmonary hypertension.

RADIOLOGY The pediatric chest radiograph is unique in that normal findings may vary with age. The width of the chest on the lateral projection in the chest radiograph of a normal infant (Fig. 16-4) is about the same as the transverse dimension on a frontal projection, and the lungs may appear relatively radiolucent. Further, in contrast with the older child (>2 years of age), the cardiothoracic ratio in the infant normally may be as high as 0.65. The width of the superior mediastinum at this age may also be striking because the thymic shadow is particularly prominent during the first few months of life before the normal process of involution occurs. The normal chest radiograph of an older child (Fig. 16-5) shows the diaphragm on an inspiratory film at the eighth or ninth rib posteriorly (sixth rib anteriorly), a cardiothoracic ratio of 0.5, and pulmonary vessels extending two thirds of the way to the periphery. In most situations a lateral radiograph should accompany the posteroanterior (PA) view because some pathologic findings may be missed on a single projection. For example, a lateral examination yields the best information about the anterior

mediastinum and the tracheal air column and may reveal a small pleural effusion that is unsuspected on the basis of a PA radiograph alone. In combination with the PA view, the lateral projection may help localize an abnormal finding to a particular lobe or segment or document hyperinflation with diaphragmatic flattening (Fig. 16-6). In most situations the chest radiograph taken at full inspiration is most helpful. In the evaluation for bronchial foreign bodies, a comparison of inspiratory and expiratory views (or left and right lateral decubitus films in the younger patient) can help if one lung is unable to empty. In looking for a small pneumothorax, the expiratory film is more helpful because the smaller lung volume allows extrapulmonary air to expand to become more evident.

COUGH Persistent or recurrent cough represents one of the most common and vexing problems in pediatrics. In most circumstances the tracheobronchial tree is kept clean by airway macrophages and the mucociliary escalator, but cough becomes an important component of airway clearance when excessive or abnormal materials are present, or when mucociliary clearance is reduced, as during a viral respiratory illness. A cough clears airway secretions and inhaled particulate matter through a combination of the high airflow velocities generated during the expiratory phase of the cough and compression of smaller airways, which “milks” the secretions into larger bronchi where they can be eliminated by a subsequent cough. Cough is generally produced by a reflex response arising from irritant receptors located in ciliated epithelia in the lower respiratory tract, but it can be suppressed or initiated at higher cortical centers. One of the most common causes of cough in pediatric patients is the selflimited cough of an acute viral lower respiratory illness or bronchitis that lasts 1 to 2 weeks. The cough that persists longer than 2 weeks is potentially more worrisome. A diag-

Table 16-1

Figure 16-3  Digital clubbing in cystic fibrosis.

Causes of Clubbing

Pulmonary Cystic fibrosis Other bronchiectasis Pulmonary abscess Empyema Neoplasms Interstitial fibrosis Pulmonary alveolar proteinosis Interstitial pneumonitis Chronic pneumonia

Cardiac Cyanotic congenital heart disease Subacute bacterial endocarditis Gastrointestinal or Hepatic Ulcerative colitis Crohn disease Polyposis Biliary cirrhosis/atresia Familial Thyrotoxicosis

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Figure 16-4  Normal posteroanterior chest radiograph in a 1-month-old infant. (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

nostic approach to chronic cough is best served by considering the age of the child (Table 16-2). Several causes of persistent cough are common to all pediatric age groups, such as second-hand cigarette smoke exposure, recurrent viral bronchitis, asthma, gastroesophageal reflux (GER), cystic fibrosis, granulomatous lung disease (e.g., tuberculosis), foreign body aspiration, and pertussis.

Age and Cause Infancy (Younger Than 1 Year) Cough starting at birth or shortly afterward may be a sign of serious respiratory disease and must be evaluated assiduously. Cough beginning at this time raises the possibility of congenital infections, such as cytomegalovirus or rubella, which are often associated with other findings, such as hepatosplenomegaly, thrombocytopenia, or central nervous system disease. Pneumonia due to Chlamydia trachomatis (Fig. 16-7) generally develops after the first month of life and presents as

A

Figure 16-6  Posteroanterior chest radiograph demonstrating flattening of the diaphragm due to hyperinflation.

an afebrile pneumonitis with congestion; wheezing; fine, diffuse crackles; a paroxysmal cough; and, in approximately 50% of cases, a prior or concomitant inclusion conjunctivitis. Pneumonia caused by Bordetella pertussis is a potentially lifethreatening illness characterized by severe paroxysmal coughing episodes followed by cyanosis and apnea and is often associated with an inspiratory “whoop.” The latter finding may be missing in young infants or those weakened by the recurrent coughing spasms. Newborns and young infants may have apnea as the primary sign of a B. pertussis infection. The chest radiograph is nondiagnostic and can be normal or (Fig. 16-8) show perihilar infiltrates; atelectasis; hyperinflation; and, in some cases, interstitial or subcutaneous emphysema.

B Figure 16-5  Normal posteroanterior (A) and lateral (B) chest radiographs of a 6-year-old child.

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Table 16-2

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Causes of Cough according to Age

Infancy (Younger Than 1 Year) Congenital and Neonatal Infections Chlamydia Viral (e.g., RSV, CMV, rubella) Bacterial (e.g., pertussis) Pneumocystis jirovecii Congenital Malformations Tracheoesophageal fistula Vascular ring Airway malformations (e.g., laryngeal cleft) Pulmonary sequestration Other Cystic fibrosis Asthma Recurrent viral bronchiolitis/ bronchitis Gastroesophageal reflux Interstitial pneumonitides Lymphoid interstitial pneumonitis Diffuse interstitial pneumonitis Preschool Inhaled foreign body Asthma Suppurative lung disease Cystic fibrosis Bronchiectasis

Right middle lobe syndrome Ciliary dyskinesia syndromes Upper respiratory tract disease Recurrent viral infection/bronchitis Passive smoke inhalation Gastroesophageal reflux Interstitial pneumonitides Pulmonary hemosiderosis School Age to Adolescence Asthma Cystic fibrosis Mycoplasma pneumoniae infection Psychogenic or habit cough Cigarette smoking Pulmonary hemosiderosis Interstitial pneumonitides Ciliary dyskinesia syndromes

Figure 16-8  Pertussis in a 6-week-old infant demonstrates the typical radiographic pattern of perihilar involvement. This child also has right upper lobe atelectasis. (Courtesy Katie McPeak, MD, Pittsburgh, Pa.)

All Ages Recurrent viral illness Asthma Cystic fibrosis Granulomatous lung disease Foreign body aspiration Pertussis infection

CMV, cytomegalovirus; RSV, respiratory syncytial virus.

A high white blood cell count with a predominance of lymphocytes supports the diagnosis, but unfortunately once the patient has passed through the usually innocent-appearing coryzal stage into the paroxysmal stage, diagnostic tests have a lower yield. Diagnostic approaches to whooping cough include detection of B. pertussis DNA by polymerase chain reaction (PCR) and serologic detection of B. pertussis–specific IgM or IgA. Ureaplasma urealyticum and Pneumocystis jirovecii (formerly known as P. carinii) have been recognized as causes of pneumonia and persistent cough in this age group. Congenital malformations, such as tracheoesophageal fistula (Fig. 16-9) and laryngeal cleft or web, can produce

Figure 16-7  Pneumonia caused by Chlamydia trachomatis in a 3-month-old infant with inclusion conjunctivitis.

cough via chronic aspiration of gastric contents, milk, or saliva. These anomalies are associated with feeding-related coughing, choking, and occasional cyanosis. Hypoxemia may persist between feedings. Infants with neurologic disorders may have incoordination of swallowing and sucking reflexes that lead to aspiration of milk or gastric contents into the lung. Pulmonary sequestration (in which a portion of the lung is perfused by systemic, not pulmonary arteries) (Fig. 16-10) and bronchogenic cysts (cystic structures arising from the pulmonary epithelium) are rare congenital anomalies that may compress the pulmonary tree or become infected, thereby producing a cough. Aberrant major blood vessels generally cause inspiratory stridor and expiratory wheezing from tracheal compression (Fig. 16-11; see also Fig. 16-25), but a brassy cough may also be observed, as may dysphagia from the associated esophageal compression. The triad of poor weight gain, steatorrhea, and chronic cough at this age makes cystic fibrosis a strong consideration, and a sweat test at an accredited cystic fibrosis center is mandatory. Asthma (formerly: “reactive airway disease”) or bronchial hyperresponsiveness is a common and probably underdiagnosed cause of cough in infancy. Cough or persistent wheezing can be found in these infants, who may have a history of a previous viral lower respiratory illness with or without a family history of wheezing and/or asthma. Babies with GER may have a combination of effortless vomiting; nocturnal cough/wheeze; pain behaviors/arching; hoarseness; laryngomalacia; and, in some cases, poor weight gain. The absence of a history of vomiting (“spitting up”) does not eliminate GER as a diagnostic consideration in infants with persistent coughing because occult reflux or microaspiration may induce bronchospasm. Childhood interstitial lung disease (chILD) refers to a complex and rare group of pulmonary disorders. These disorders usually involve the pulmonary interstitium, but can involve other aspects of lung parenchyma. Although chILD can present in older children, there are several disorders (see later) specific to infancy. The pathogenesis of these disorders is poorly understood. Causes of chILD are extremely variable and include infections, inhalation injury, chemotherapeutic agents, post–bone marrow transplant lung disease, systemic inflammatory diseases, pulmonary hemorrhage syndromes, structural and growth anomalies, metabolic diseases, and congenital disorders of host defense and of surfactant production. Examples

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A

B

Figure 16-9  Tracheoesophageal fistula. A, Anteroposterior chest radiograph shows feeding tube passing no farther than proximal esophagus; there is an aspiration pneumonitis present. B, Lateral view showing the feeding tube in the proximal esophageal pouch with air in the airway, distal esophagus, and intestine. (A, Courtesy Beverly Newman, MD, Pittsburgh, Pa; B, courtesy Katie McPeak, MD, Pittsburgh, Pa.)

of chILD that present in infancy include alveolar capillary dysplasia, surfactant B and C deficiencies, ILD associated with ABCA3 mutations, pulmonary interstitial glycogenosis, neuroendocrine cell hyperplasia of infancy, and follicular bronchitis of infancy. Patients with chILD may present insidiously with some combination of cough, tachypnea, retractions, exercise intolerance, resting hypoxemia or hypercarbia, or desaturation with exercise; diffuse abnormalities on chest imaging; and crackles and retractions on examination. Growth failure is not uncommon as a complication of these diseases. The diagnosis of a specific chILD is usually made subsequent to lung biopsy, but this is usually preceded by a variety of less invasive tests (Fig. 16-12) such as a high-resolution computed tomography (CT) scan of the chest, infant lung

A

function testing, and flexible fiberoptic bronchoscopy with bronchoalveolar lavage. Surfactant disorders (surfactant protein B or C deficiencies, or ABCA3 mutations) can often be diagnosed by mutation analysis. The prognosis of chILD can be quite variable, with some universally fatal (alveolar capillary dysplasia) or very severe and treatable only by lung transplantation (surfactant protein B deficiency), and some showing gradual improvement over months or years (neuroendocrine cell hyperplasia of infancy). Preschool The two most common reasons for a persistent cough in the preschool age group are recurrent viral infections and asthma. The child with asthma may not manifest audible wheezing or dyspnea but rather may have persistent cough, especially with

B

Figure 16-10  Pulmonary sequestration. A, Anteroposterior film shows left lower lobe infiltrate. B, Aortic angiogram demonstrates anomalous origin of pulmonary blood supply from abdominal aorta to the left lower lobe in a 7-year-old girl with extralobar sequestration. (Courtesy Geoffrey Kurland, MD, Pittsburgh, Pa.)

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A 1200 Figure 16-11  Vascular ring. Barium swallow in a toddler with posterior compression of esophagus and trachea from a vascular ring. (Courtesy Department of Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

800 Flow, mL/sec

viral respiratory infections, after exposure to noxious inhalants, such as cigarette smoke, or after vigorous activity. Upper respiratory tract disease and sinusitis have been implicated in the pathogenesis of chronic cough, presumably through the stimulation of pharyngeal cough receptors by upper airway secretions. Parental smoking (passive smoking) itself is a common cause of cough in preschool children. GER more commonly causes cough at a younger age but may appear at any age. The interstitial pneumonitides may also produce a chronic cough in this age group. An inhaled foreign body in either the tracheobronchial tree or esophagus is an important cause of chronic cough, especially in toddlers. A history of gagging or choking may be absent at this age, physical examination may be unrevealing, and the plain chest radiograph may be normal. Subtle differences in air entry into homologous lung segments, detected with the differential (double-headed) stethoscope (see Fig. 16-1), may be the only indication of a foreign body in the airway. Cough is present in more than 90% of cases; it is usually of abrupt onset, but a quiescent period may occur after inhalation and cough may disappear as irritant receptors adjust to the object’s presence. A mobile foreign body may result in the recurrence of cough as new receptors are stimulated by the object. Although inspiratory and expiratory radiography and fluoroscopy are useful in the evaluation of a child with a possible bronchial foreign body, they may be normal and rigid bronchoscopy may be necessary to confirm or disprove the presence of a foreign object (Fig. 16-13). Unilateral air trapping demonstrated by inspiratory and expiratory radiographs (Fig. 16-14, A and B) (or left and right lateral decubitus films in younger children) strongly suggests an inhaled foreign body. Suppurative lung diseases, such as cystic fibrosis or bronchiectasis (Fig. 16-15), or deriving from any other causes (e.g., tuberculosis), characteristically result in a chronic cough producing purulent sputum. “Right middle lobe syndrome,” commonly associated with enlargement of lymph nodes surrounding the right middle lobe bronchus in tuberculosis, has also been described in asthma and a number of other illnesses and may be associated with chronic cough. Recurrent infection of the

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Volume, mL

Figure 16-12  Computed tomography scan (A) and infant lung function testing (B) in a young child with neuroendocrine cell hyperplasia of infancy.

middle lobe can ultimately lead to the development of bronchiectasis or fibrosis. Disorders of ciliary motility (primary ciliary dyskinesia and acquired ciliary dyskinesia) may produce insidious symptoms of chronic productive cough, nasal drainage, recurrent middle ear infections, and fever. Clinical findings include basilar crackles (which can be expiratory) and, later, radiographic changes of recurrent lower lobe infections and bronchiectasis. Repetitive infections occur unless measures such as chest physical therapy, postural drainage, and liberal use of antibiotics are employed. It is now recognized that the classic triad described by Kartagener of situs inversus, sinusitis, and bronchiectasis fits only a limited number of patients because situs inversus occurs in only about half of all patients with primary cilia dyskinesia. Far more common is an acquired ciliary dyskinesia that can follow certain lower respiratory infections (including adenovirus, Mycoplasma, respiratory syncytial virus, and influenza). Diagnosis can be made via biopsy of the respiratory epithelium, either from curettage of the nasal

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Figure 16-13  Foreign body. Portion of a carrot lodged in the right mainstem bronchus, as seen through a rigid bronchoscope. (Courtesy S. Stool, MD, Pittsburgh, Pa.)

turbinate in the office or from forceps biopsy of the bronchus via rigid bronchoscope under anesthesia. It may also be suggested by a reduced fraction of nitric oxide in exhalate from the nose. Pulmonary hemosiderosis is a potentially fatal disorder that has been described in association with cardiac or panorganic disease, glomerulonephritis (Goodpasture syndrome), collagen vascular diseases, and as an idiopathic form. Idiopathic pulmonary hemosiderosis (IPH) is a disease of unknown etiology characterized by episodes of dyspnea, cough and/or hemoptysis, cyanosis, fever, and iron-deficiency anemia. Hematemesis or melena may be the only presenting complaint in some patients without symptoms referable to the respiratory tract. As a result of recurrent bleeding episodes, jaundice may be observed, and clubbing develops over time in some patients. Laboratory findings include iron-deficiency anemia and, in a small number of patients, peripheral eosinophilia. Radiographic findings are quite variable, with some patients demonstrating scant transient infiltrates and others showing widespread parenchymal infiltrates that resemble miliary tuberculosis. Hemosiderin-laden macrophages obtained from sputum, gastric washings, or bronchoalveolar lavage suggest the diagnosis, but a lung biopsy is frequently necessary and

A

Figure 16-15  Bronchiectasis. Bronchogram shows cylindrical bronchiectasis of the left lower lobe in a 5-year-old girl with recurrent pneumonia and chronic cough.

will allow the clinician to differentiate vasculitis from capillaritis and assess for iron deposition. A percutaneous renal biopsy or detection of anti–basement membrane antibodies may help in cases of hemosiderosis associated with Goodpasture syndrome. School Age to Adolescence Because children are exposed to numerous respiratory viruses during the first several years of school, recurrent viral infection remains an important cause of chronic cough in this age group. Asthma continues to be a consideration in the patient with a chronic cough. Patients in this age group (older than 6 years) can perform pulmonary function tests including bronchodilator responsiveness or bronchial provocation studies to

B

Figure 16-14  Foreign body. Inspiratory (A) and expiratory (B) radiographs of a child with an inhaled foreign body lodged in the left mainstem bronchus reveal hyperlucency of the left hemithorax and compensatory shift of the mediastinal structures to the right on expiration. (Courtesy Sameh Tadros, MD, Pittsburgh, Pa.)

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B

A

Figure 16-16  Pneumonia. A, Posteroanterior view and B, lateral view of Mycoplasma pneumonia in a 10-year-old boy. Posteroanterior chest radiograph shows right lower lobe (apical segment) involvement of a lobar infiltrative process.

confirm the diagnosis. Other disorders may present with chronic cough at this age including allergic rhinosinusitis, cystic fibrosis, pulmonary hemosiderosis, interstitial pneumonitis, and primary ciliary dyskinesia. Mycoplasma pneumoniae infection is an important cause of chronic cough among school-age children. In its early stages, the disease is identical to a viral upper respiratory infection with coryza, sore throat, low-grade fever, and malaise. Gradually, the symptoms of lower respiratory involvement emerge and persist. Cough ranges from dry and hacking to one productive of mucoid sputum. On occasion the disease progresses to lobar pneumonia (Fig. 16-16, A and B) indistinguishable from typical bacterial pneumonia. The cough typically persists for 6 weeks, although it may last for 3 months. Physical findings tend to be minimal, although crackles and wheezing are often noted. The chest radiograph is not diagnostic, and the findings may be either interstitial or bronchopneumonic in character, with predilection for the lower lobes (see Fig. 16-16, A and B). Often the chest radiograph is normal. Diagnosis of M. pneumoniae infection can be made most rapidly by throat swab PCR. Serology is also used, and either paired sera for IgG titer or a single elevated IgM titer can be diagnostic. Mycoplasma culture is performed, but the organism is difficult and slow to isolate (taking 60 to 90 days), making this test of little clinical utility. A psychogenic cough (also called habit cough and cough tic) may be observed after a lower respiratory tract illness. Habit cough may persist for weeks or months after the acute process has subsided. This cough tends to be loud and bizarre in nature and timing; it is often described as “honking” or “barking.” This type of cough is short, nonproductive, and nonparoxysmal; it is quite disturbing to family members and classmates, to the point that the child may be excluded from school and other activities. It always disappears with sleep. The cough becomes more obvious with stressful situations or when parents (or physicians) express interest in regarding the cough, and may be decreased by distraction or talking. For this reason, extensive evaluations by medical personnel may merely exacerbate the problem when the diagnosis can be made on the basis of the characteristic quality of the cough and its disappearance in sleep. Demonstrating normal pulmonary function testing and a normal chest radiograph helps to

reassure the parent that other disease has been excluded. Treatment can include speech therapy, distraction, relaxation techniques, and hypnosis. Cigarette smoking in this age group should also be a consideration, and, unless the rapport between physician and adolescent is particularly strong, the history will likely be unrevealing. Staining of the teeth or fingers or the presence of conjunctivitis may be indirect clues to the underlying cause of the cough. Measurement of exhaled carbon monoxide or carboxyhemoglobin can confirm the exposure.

Evaluation The history may suggest the underlying cause of the cough (Table 16-3), and, perhaps more importantly, eliciting the cough during the physical examination can help. A wetsounding (productive) cough suggests suppurative lung disease, such as cystic fibrosis, other forms of bronchiectasis, or ciliary dyskinesia syndromes. The cough in these patients tends to be most severe in the morning because excessive secretions pool in the tracheobronchial tree during sleep. Increased morning cough is also common in patients with Table 16-3

Characteristics of Chronic Cough and Associated Conditions

Characteristic

Associated Condition

Loose, productive Croupy Paroxysmal

Cystic fibrosis, bronchiectasis, ciliary dyskinesia Laryngotracheobronchitis Cystic fibrosis, pertussis syndrome, foreign body inhalation, Mycoplasma, Chlamydia Tracheitis, upper airway drainage, psychogenic cough Pharyngeal incoordination, pharyngeal mass, tracheoesophageal fistula, gastroesophageal reflux Upper respiratory tract disease, sinusitis, asthma, cystic fibrosis, gastroesophageal reflux Cystic fibrosis, bronchiectasis Asthma (including exercise induced), cystic fibrosis, bronchiectasis Psychogenic cough Psychogenic cough

Brassy After feedings Nocturnal Most severe in morning With exercise Loud, honking, or bizarre Disappears with sleep

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sinusitis or increased upper airway secretions from viral infection or allergic rhinitis. A croupy cough may be observed in patients with acute laryngotracheobronchitis, and there may be associated wheezing. A dry or brassy cough is generally seen in patients with larger airway pathology, as in tracheitis or drainage from upper respiratory tract disease; a psychogenic cough may produce similar findings, but this type of cough may be distinguished from the others by its disappearance with sleep. As noted previously, a psychogenic cough is often (but not always) loud, honking, and disruptive. A paroxysmal cough is seen in patients with pertussis syndrome, Mycoplasma or Chlamydia infection, foreign body inhalation, or cystic fibrosis. A coughing episode associated with feedings suggests pharyngeal incoordination or mass, tracheoesophageal fistula, or GER. Nighttime coughing is noted in cystic fibrosis, asthma, GER, sinusitis, and upper respiratory tract disease. Cough occurring during or shortly after activities suggests exercise-induced asthma, cystic fibrosis, or bronchiectasis. Examination of the sputum may also be helpful in suggesting the diagnosis. Clear, mucoid sputum containing eosinophils is likely to represent asthma, whereas purulent green sputum is more suggestive of suppurative lung disease, such as cystic fibrosis. A yellow color can be imparted to the sputum by breakdown products of white blood cells; therefore yellow sputum can be seen with bacterial infection (polymorphonuclear leukocytes) or asthma (eosinophils). Bloodtinged sputum can occur in cystic fibrosis, retained foreign body, idiopathic pulmonary hemosiderosis, tuberculosis, bronchiectasis, and some infections. Upper respiratory tract irritation with epistaxis may lead to the mistaken notion that hemoptysis is occurring. Hematemesis may also be mistaken for hemoptysis. Clinical findings associated with a cough may also point to the nature of the problem. A cough occurring in the presence of poor weight gain and malabsorption makes cystic fibrosis a concern. Cough occurring with wheezing suggests asthma, and if evidence of rhinitis, conjunctivitis, or “allergic shiners” is present, allergic disease may also be a consideration (see Chapter 4). Cough that is worse in the spring and summer months or that occurs only after exercise suggests asthma. Worsening of the cough in winter is consistent with coldinduced bronchospasm or recurrent viral illnesses.

Diagnostic Approach The approach to diagnosing a patient with persistent cough begins with a complete history in which some of the factors alluded to earlier are targeted (Table 16-4). On physical examination, close attention to nutritional status, associated upper respiratory tract disease, or clubbing of the digits is as important as the examination of the chest. Clubbing of the fingers raises the possibility of cystic fibrosis; any patient with this finding requires a sweat test performed by quantitative pilocarpine iontophoresis at an accredited cystic fibrosis center. On auscultation of the chest, a localized wheeze, particularly if associated with delayed air entry, suggests a foreign body or focal airway lesion leading to narrowing. Inspiratory crackles may be noted in cystic fibrosis, bronchiectasis from other causes, interstitial lung disease, or pneumonia. Crackles are also present during one third to one half of untreated asthma exacerbations, even in the absence of infection. Most patients with prolonged cough should have a chest x-ray examination. Inspiratory and expiratory radiographs and fluoroscopy may be indicated if inhalation of a foreign body is suspected. A complete blood count (CBC) with differential may suggest the diagnosis in some patients, with eosinophilia seen in allergic disease, lymphocytosis in pertussis and other

Table 16-4

Diagnostic Approach to Cough

Complete history and physical examination Chest and sinus radiographs CBC with differential Pulmonary function tests (including bronchoprovocation tests) Sweat test (pilocarpine iontophoresis method) Trial of bronchodilators Sputum for Gram stain, AFB, and bacterial, viral, and fungal cultures Quantitative immunoglobulins Tuberculin skin test/anergy panel Serologic tests or PCR for Mycoplasma pneumoniae Bronchoscopy Barium swallow pH probe or Bernstein test AFB, acid-fast bacillus; CBC, complete blood count; PCR, polymerase chain reaction.

viral diseases, and an increased proportion of neutrophils in bacterial infections. Pulmonary function testing can detect lower airway obstruction that may be inapparent on physical examination; improvement in airflow with bronchodilator administration supports a diagnosis of asthma. Certain abnormalities of the shape of the flow–volume loop (see Fig. 16-40) during spirometry can also suggest upper airway pathology (discussed in Diagnostic Techniques, later). In some cases an outpatient trial of inhaled corticosteroids lasting several months or an empiric brief course of oral corticosteroids may serve to confirm the suspicion of asthma. Failure to respond to this regimen suggests that asthma is not the problem, but it could be the result of noncompliance with the prescribed medications. The term cough-variant asthma is not used by pulmonologists. This phrase refers to asthma in which cough, rather than wheezing, is the primary symptom. Such patients always have other signs of small-airway obstruction, ranging from hyperinflation evident on percussion of the chest to abnormalities on pulmonary function testing, and as such are diagnosed as having asthma on these grounds. Examination of sputum with Wright or Gram stain or by cultures may lead to a diagnosis. Eosinophils suggest allergic disease, and polymorphonuclear leukocytes with organisms suggest a bacterial infection. Quantitative immunoglobulins and immunoglobulin subclasses may be helpful in detecting some immunodeficiencies, and elevated IgE suggests allergic disease. A purified protein derivative (PPD) intradermal skin test placed in conjunction with other antigens of known immunogenicity (e.g., Candida or mumps) may be important in some patients. In the appropriate clinical setting, PCR or serologic studies for M. pneumoniae are occasionally fruitful. Bronchoscopy may exclude the diagnosis of foreign body or airway malformation as the cause of chronic cough. If foreign body inhalation is likely (based on history and/or physical examination), bronchoscopy is essential and should be performed under general anesthesia with the rigid bronchoscope by a surgeon. Chest CT may confirm the diagnosis of bronchiectasis and should be performed if surgical removal of the affected segment is contemplated. A barium swallow is useful in patients with suspected tracheoesophageal fistula or primary swallowing disorders. Diagnostic evaluation of suspected aspiration is discussed later. Prolonged monitoring of the pH (“pH probe”) in the distal esophagus may confirm the suspicion of GER. In patients suspected of having ciliary dysmotility, a nasal or bronchial ciliary biopsy for examination by light and electron

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Table 16-5

627

Causes of Recurrent or Chronic Stridor

Croup Infectious Allergic/angioneurotic edema, GER Laryngomalacia Tracheomalacia Subglottic stenosis Extrinsic airway compression Vascular ring Mediastinal mass Lobar emphysema Bronchogenic cyst Foreign body in esophagus Thyromegaly

Pharyngeal or laryngeal masses Papilloma Hemangioma Laryngocele Web Foreign body Tracheoesophageal fistula Vocal cord paralysis Hysterical or psychogenic

GER, gastroesophageal reflux.

microscopy or a nuclear medicine scan measuring the movement of inhaled radiolabeled particles within the central airways may be indicated.

STRIDOR A number of clinical entities can produce persistent or recurrent stridor (Table 16-5), and some of these may also be associated with a chronic cough, as described earlier. Stridor is characteristically a harsh inspiratory noise created by obstruction of the larynx or the extrathoracic trachea. With a mild degree of airway narrowing, breath sounds may be normal when the infant or child is at rest, but with any activity that increases tidal breathing (e.g., crying, feeding, agitation), inspiratory stridor may become noticeable. The most common cause of inspiratory stridor in the pediatric population is infectious croup (acute laryngotracheobronchitis). This disease is most commonly caused by a respiratory virus (parainfluenza, respiratory syncytial, influenza, or rhinovirus), and the patient typically has coryza for 24 to 48 hours before the appearance of croupy cough, hoarseness, and stridor. On occasion, the inflammatory process may spread to the smaller airways and produce wheezing in addition to these symptoms. The “steeple sign” is a characteristic radiographic sign on anteroposterior projections (Fig. 16-17) that may be accompanied by marked dilation of supraglottic

A

B

Figure 16-17  Croup (laryngotracheobronchitis). Radiograph of upper airway shows subglottic narrowing of the trachea, referred to as the “steeple sign.” (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

structures, particularly on lateral films. In the majority of patients, serious airway obstruction does not occur and the disease is self-limited. Acute angioneurotic edema is a less common cause of stridor. In most cases it results from an allergic reaction and is potentially fatal. Some children with anatomically normal airways suffer recurrent bouts of stridor, usually in the middle of the night, in the absence of signs of viral infection. Treatment for GER is often helpful in these patients, suggesting that for many, occult GER explains these bouts of recurrent airway obstruction. The stridor associated with congenital laryngomalacia (Fig. 16-18) generally begins within the first week of life, varies with activity, and is more noticeable in the supine position. Clinical symptoms may suggest the diagnosis, but if severe, bronchoscopic visualization of airway dynamics by flexible bronchoscopy is a safe and reliable method of excluding other causes of stridor. Parents can be reassured that this entity is self-limited, becomes less marked after 6 to 10 months of age, and rarely causes serious problems. Narrowing of the subglottic region can be congenital or acquired, as in subglottic stenosis associated with endotracheal intubation. Congenital subglottic stenosis improves as

C

Figure 16-18  Laryngomalacia. A sequence of photographs demonstrates the degree of airway compromise occurring during inspiration in laryngomalacia. The epiglottis is supported by a laryngoscope blade, but the progressive collapse of the other laryngeal structures during inspiration, especially the arytenoid cartilages, is shown clearly. (From Benjamin B: Atlas of paediatric endoscopy, London, 1981, Oxford University Press.)

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Figure 16-19  Laryngeal papillomatosis. Multiple papillomas involving the larynx are seen in this photograph taken during rigid bronchoscopy. (From Benjamin B: Atlas of paediatric endoscopy, London, 1981, Oxford University Press.)

the child grows older, but narrowing associated with tracheal intubation may require a tracheostomy, particularly if the infant remains dependent on ventilatory support. Congenital laryngeal or pharyngeal masses can also produce stridor by obstructing airflow. Laryngeal papillomatosis (Fig. 16-19) is a rare and life-threatening illness that generally pre­ sents in the first decade of life. Papillomas can involve the vocal cords, but there may also be widespread involvement of the tracheobronchial tree. Although inspiratory stridor may be observed, hoarseness is a more common presenting feature. Hemangiomas of the larynx or trachea may also produce stridor or a brassy or dry cough. Cutaneous or mucosal hemangiomas noted during the physical examination suggest the possibility of this diagnosis. Laryngeal webs (Fig. 16-20), cysts, and laryngoceles are quite uncommon and are accompanied by respiratory distress, stridor, feeding difficulties, and cyanosis. Diagnosis is made by bronchoscopy. A foreign body in the pharynx or larynx may also cause stridor. Vocal cord paralysis, either unilateral or bilateral, may be present in the neonatal period, although in the case of unilateral paralysis several weeks may pass before the diagnosis is suspected. A weak or absent cry, hoarseness, inspiratory stridor with or without respiratory distress, and feeding

difficulties are the usual signs of vocal cord paralysis. Bilateral vocal cord paralysis may be seen with hydrocephalus, myelomeningocele, Arnold-Chiari malformation, or other malformations of the brain. Unilateral and bilateral cord paralyses are observed in patients with abnormalities of the cardiovascular system that are accompanied by cardiomegaly (e.g., ventricular septal defect, tetralogy of Fallot) or that cause abnormalities of the great vessels (e.g., vascular ring, transposition, patent ductus arteriosus). The diagnosis is best made by flexible laryngoscopy under minimal sedation so that vocal cord movement can be examined adequately. Because of a strong association of dysfunctional swallow with vocal cord paralysis, a barium swallow should be performed in suspected cases to assess for aspiration. A bronchogenic cyst (Fig. 16-21, A and B) in the newborn can cause stridor, as the cyst fills with air after birth and compresses large airways. It can also cause tachypnea, dyspnea, cyanosis, and diminished breath sounds on the affected side. Later, the cyst may become infected, leading to recurrent bouts of fever, cough, and hemoptysis. Finally, an esophageal foreign body may compress the compliant posterior wall of the trachea and produce stridor, cough, and dysphagia. The diagnosis of psychogenic stridor is generally made during adolescence and is more common in girls. As in psychogenic cough, psychogenic stridor disappears with sleep and is more noticeable with anxiety or when excessive attention is given to the patient. It is the result of adduction of the vocal cords during inspiration.

WHEEZING Many diseases that produce chronic wheezing in pediatric patients overlap with entities that cause coughing or stridor (Table 16-6). Wheezing is a continuous sound that results from obstruction of airflow in intrathoracic airways. This obstruction can be at the lower trachea or “downstream” in the small bronchi and bronchioles. Wheezes can be heard on expiration or, less commonly, during both phases of respiration. The pitch of the wheeze, the variation in its pitch throughout the lung fields, and an association with hyperinflation as defined by percussion (described earlier) can help differentiate wheezing resulting from obstruction in the small airways (polyphonic) from that in the large airways

Table 16-6

Figure 16-20  Laryngeal web. Expiratory view of a laryngeal web, noted at birth in an infant with inspiratory stridor that was exaggerated by crying. The web is seen traversing the area of the glottis. (From Smalhout B, Hill-Baughan AB: The suffocating child: bronchoscopy, a guide to diagnosis and treatment, Ingelheim, Germany, 1980, Boehringer Ingelheim, p. 86.)

Causes of Chronic or Recurrent Wheezing

Asthma Exercise-induced asthma Gastroesophageal reflux Hypersensitivity reactions (e.g., ABPA) Cystic fibrosis Aspiration Tracheoesophageal fistula Foreign body Gastroesophageal reflux Laryngeal cleft Pharyngeal dysmotility Extrinsic masses Vascular ring Cystic adenomatoid malformation Lymph nodes Tumors

Ciliary dyskinesia syndromes Tracheomalacia and/or bronchomalacia Congestive heart failure Bronchopulmonary hemosiderosis or Heiner syndrome Endobronchial lesions including localized stenosis Interstitial pneumonitides Bronchiolitis obliterans

ABPA, allergic bronchopulmonary aspergillosis.

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A

629

B

Figure 16-21  Bronchogenic cyst. A, Chest radiograph demonstrates hyperlucency of the left lung. B, Magnetic resonance imaging (MRI) of the chest demonstrates a large, centrally located cystic lesion of the left hilum with compression of the adjacent airway. (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

(monophonic). Response to bronchodilator and/or steroids is a useful way of differentiating true asthma (which should improve with these treatments) from wheezing resulting from tracheomalacia or bronchomalacia (which does not improve and may even worsen with bronchodilators). Asthma is the most common cause of wheezing in pediatric patients. Asthma is usually associated with some degree of hyperinflation (air trapping) in the untreated patient younger than 5 years of age. Asthma may take many different forms including typical asthma, exercise-induced asthma, transient wheezing of infancy, and wheezing associated with GER. A disorder often mistaken for exercise-induced asthma is vocal cord dysfunction. In vocal cord dysfunction, the true vocal cords adduct during inspiration. The adduction of the cords is nearly always of behavioral origin. It results in a sensation of dyspnea, which the patient localizes to the throat—a history inconsistent with asthma. Often the stress of a competitive event brings out this reaction. This diagnosis can be established in the exercise laboratory with the aid of pulmonary function testing. The adduction of the vocal cords can also be demonstrated by flexible nasolaryngoscopy. Despite the psychogenic origin, this disorder is generally best treated by speech therapists; referral to a psychiatrist is rarely necessary. Increased wheezing in a patient with previously wellcontrolled asthma should raise the possibility of allergic bronchopulmonary aspergillosis (ABPA). These patients often have an insidious onset of low-grade fever, fatigue, weight loss, and productive cough. Physical findings include expiratory wheezes and bibasilar crackles and, later in the course, clubbing of the digits. Radiographic features of ABPA (Fig. 16-22) include areas of consolidation, atelectasis, and evidence of dilated bronchi radiating from the hila. Diagnosis can be made by positive skin test results with Aspergillus fumigatus antigens, elevated total serum IgE levels, elevation of specific IgE, presence of serum precipitins to Aspergillus organisms, and isolation of A. fumigatus from the sputum culture. Pulmonary function studies may worsen considerably during episodes of ABPA with evidence of increased airway obstruction. A host of hypersensitivity reactions produce extrinsic allergic alveolitis with wheezing. Treatment of ABPA includes prolonged systemic corticosteroids and sometimes antifungal medications.

Other disorders that can provoke wheezing include cystic fibrosis, aspiration events from any cause, and extrinsic masses that compress the airways. Congenital cystic adenomatoid malformation is a rare cause of extrinsic airway compression in which symptoms generally begin at birth or shortly afterward, as a normal lung is compressed by the lesion with the onset of tachypnea, respiratory distress, and cyanosis. Hydramnios is often noted at birth. Rarely, smaller cysts may be an incidental finding on chest radiography or symptoms may develop after infection of the cysts occurs. The radiographic appearance (Fig. 16-23) is that of single or multiple cystlike areas compressing normal lung, with mediastinal displacement. It is usually confined to a single lobe, and there is no apparent predilection for a particular lobe. Extrinsic airway compression may produce wheezing or stridor, depending on the site of obstruction. A vascular ring (Fig. 16-24) is much more likely to cause expiratory wheezing than inspiratory stridor (see Chapter 5). Diagnosis can be made by MRI, echocardiography, barium swallow, or bronchoscopy; the last mentioned may demonstrate a pulsatile lesion compressing the trachea. MRI, unlike the other diagnostic choices, delineates the vascular and airway anatomy simultaneously and has become the diagnostic test of choice.

Figure 16-22  Allergic bronchopulmonary aspergillosis. Chest CT of a patient with asthma and allergic bronchopulmonary aspergillosis shows consolidation, atelectasis, and dilated bronchi radiating from the hilum.

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A

B

Figure 16-23  A, Congenital cystic adenomatoid malformation (CCAM). Computed tomography scan of the newborn shows multiple, small air-filled cysts in the left lower lobe. This infant had this diagnosis made by antenatal ultrasound. B, Anteroposterior chest radiograph of newborn shows a large air-filled cyst filling most of the right hemithorax. Smaller cysts on the right are apparent, although not as well delineated. The right lower lobe is compressed, and the mediastinum is shifted to the left. This infant had this diagnosis made by antenatal ultrasound. (A, Courtesy Sameh Tadros, MD, Pittsburgh, Pa; B, courtesy Beverly Newman, MD, Pittsburgh, Pa.)

Barium swallow, which can demonstrate vascular compression, does not delineate vascular anatomy and is no longer routinely indicated for evaluation of vascular ring. Mediastinal masses or, occasionally, enlargement of the thyroid gland may produce tracheal compression and stridor. Congenital or acquired lobar emphysema usually produces tachypnea and other respiratory symptoms, such as cough, wheeze, intermittent cyanosis, and occasionally stridor. The chest radiograph in lobar emphysema (Fig. 16-25) demonstrates a large, hyperlucent area with few bronchovascular markings and usually compression atelectasis of adjacent lobes. Left upper lobe involvement is most common, but right middle lobe emphysema is also seen. For the infant who is growing well and in whom tachypnea is the primary symptom, or in lobar emphysema associated with a mucus plug, conservative management is indicated. In the symptomatic infant with associated compression atelectasis and/or chronic respiratory distress, resection of the affected lobe is indicated. Bronchopulmonary dysplasia (BPD, also called chronic lung disease), one of the sequelae of prematurity and its treatment, is associated with recurrent episodes of wheezing, respiratory distress, and tachypnea (see Chapter 2). Otherwise mild respiratory illnesses in these infants with decreased respiratory reserve may progress to lower respiratory tract disease, necessitating frequent hospitalizations. Patients with BPD may develop chronic respiratory insufficiency, pulmonary hypertension, and cor pulmonale. The frequency of wheezing episodes may diminish with age, although it appears that these patients continue to have airway hyperreactivity that is triggered by any number of different insults. GER is common among patients with BPD, as is tracheobronchomalacia. Both of these entities can worsen wheezing in these patients. Miscellaneous causes of wheezing include idiopathic pulmonary hemosiderosis; aspiration (acute or chronic, described later); endobronchial lesions associated with localized stenosis; and bronchiolitis obliterans. Obliterative bronchiolitis has been described in an idiopathic form, following adenoviral infections or inhalation of toxic agents and in conjunction with other diseases (including rheumatoid arthritis) in adults. Its most common current clinical setting in pediatrics is in the organ transplant recipient. Patients may present initially with fever, cough, or tachypnea and subsequently develop dyspnea

and wheezing. Physical findings include wheezing, crackles, and diminished breath sounds. The radiographic pattern (Fig. 16-26) is that of hyperinflation, decreased vascularity, and increased interstitial markings (reflective primarily of increased airway marking) with areas of atelectasis and consolidation. Pulmonary function testing will reveal fixed lower airway obstruction. Complications of adenovirus-induced bronchiolitis obliterans include bronchiectasis, overinflation, recurrent atelectasis, and pneumonia. In many patients the prognosis is poor.

CYSTIC FIBROSIS Cystic fibrosis (CF) is the most common life-shortening genetic disease among white North Americans, afflicting 1 in 3300 newborns in this group. The incidence in African Americans is approximately 1 in 17,000 and in people of Asian background, 1 in 35,000 to 1 in 50,000. The carrier frequency in the white population is an estimated 1 in 30. CF is a generalized exocrinopathy characterized by the inspissation of abnormally thick and tenacious secretions, principally involving the pancreas and lungs. In the lungs, impaired airway clearance and increased secretions cause obstruction of the airways with retention of bacteria, resulting in chronic endobronchial infection and an inflammatory process that leads to bronchiolitis, bronchitis, bronchiectasis, and bronchiolectasis. The disease is characterized by a gradual decline in pulmonary function. Respiratory disease accounts for the vast majority of deaths in people with CF. In the pancreas, ducts become obstructed by the abnormal secretions, preventing pancreatic enzymes from entering the duodenum and therefore preventing breakdown of dietary fat and protein. The pancreas undergoes autodigestion and is replaced by scar tissue; lifetime deficiency of pancreatic exocrine function results. In 40% to 50% of newborns with CF, enough pancreatic function remains for normal digestion. By 4 to 8 years of age, the proportion of patients with pancreatic insufficiency rises to 85% to 90%, where it remains. The term “pancreatic sufficiency” is used to describe the minority (10% to 15%) of patients with CF with enough pancreatic function to have normal absorption of nutrients (despite having diminished pancreatic function as compared with normal patients). The prognosis for patients

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631

A Right subclavian artery

Right aortic arch

Diverticulum of Kommerell

B Right aortic arch Sternum

Superior vena cava

Trachea Esophagus

Thymus

Right lung

C

Left lung

Diverticulum of Kommerell

Trachea

Left common carotid artery

Right common carotid artery

Anterior portion of right aortic arch

Aberrant left subclavian artery Diverticulum of Kommerell

Ascending aorta

Left mainstem bronchus Descending aorta

D Figure 16-24  Vascular ring. Images depict the vascular ring caused by a right aortic arch with an aberrant left subclavian artery. A, Plain chest radiograph demonstrates a right-sided aortic arch, with tracheal deviation to the left. B, MRI in the sagittal plane shows the dominant right aortic arch and the remnant of the left aortic arch, called a diverticulum of Kommerell. The aberrant left subclavian artery arises posteriorly from the diverticulum of Kommerell. C, MRI of the same patient in the axial plane, demonstrating the vascular ring incarcerating the trachea and esophagus. The ring is completed by the ductus arteriosus, not visible here. D, Three-dimensional reconstruction of the vascular anatomy shown in the MRI from the left anterior perspective. (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

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A

B

Figure 16-25  Congenital lobar emphysema. A, Anteroposterior chest radiograph. Left upper lobe shows hyperlucency of the affected globe, atelectasis of the lower lobe, and mediastinal shift. B, CT of same patient shows left upper lobe herniating across the midline with compression of structures on the right. (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

with CF has improved dramatically over the past several decades. By 2008 the median predicted survival had risen to 37.4 years of age. The disease is inherited as an autosomal recessive trait. The protein product of the CF gene—the cystic fibrosis transmembrane conductance regulator, or CFTR—functions as an epithelial chloride channel. Decreased chloride transport and hyperabsorption of sodium across various epithelia result in abnormally viscid and poorly hydrated secretions. Careful cell culture studies have demonstrated a decreased height of the airway surface liquid, which impairs ciliary beating. The most common mutation of the CFTR gene in the North American white population is referred to as delta-F508. This mutation is the result of the deletion of three base pairs in the gene and results in a protein missing a phenylalanine residue at amino acid position 508. When genetic testing for CF became available, there was optimism that a small handful of mutations at the CF locus (located on the long arm of chromosome 7) would account for the vast majority of the patients with the disease and lead the way to population-wide screening. This, unfortunately, turns out not to be the case. As of 2010, more than 1700 mutations of this gene had been reported. Thirty-two mutations account for 92% of CF alleles in white

A

North Americans. In approximately 70% of CF genes deltaF508 is found, and half of North American patients with CF are homozygous for the delta-F508 mutation. Half of the remaining patients are compound heterozygotes, with deltaF508 coupled with another CF allele; the remaining patients have other, non–delta-F508 mutations. A number of investigators have tried to discover genotype–phenotype correlations. The most reliable phenotypic correlate of genotype has been pancreatic function (the compound heterozygote delta-F508/ R117H, e.g., usually imparts a pancreatic-sufficient phenotype). Respiratory disease severity has not been well correlated to genotype, and on the basis of variability of disease within families, other modifier genes, as well as environmental factors, apparently play an important role in the clinical expression of CF.

Presentation CF can present in any number of fashions (Table 16-7). The most common presentation now is without symptoms and by newborn screening (see below). Most symptoms are referable to respiratory or gastrointestinal involvement. Among patients with CF, 5% to 10% present with meconium ileus, which is

B

Figure 16-26  Bronchiolitis obliterans. A, Posteroanterior chest radiograph of 17-year-old with end-stage obliterative bronchiolitis as a complication of bone marrow transplantation for acute myelogenous leukemia. Film demonstrates increased interstitial and airway markings. B, CT of same patient demonstrates bronchiectatic changes. (Courtesy Beverly Newman, MD, Pittsburgh, Pa.)

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Table 16-7

633

Presentations of Cystic Fibrosis

General Failure to thrive Salty taste to skin Gastrointestinal/Nutritional Meconium ileus Foul-smelling stools, bloating, abdominal pain Rectal prolapse Intestinal impaction and obstruction Pancreatitis, acute and chronic Hypoproteinemia and edema Neonatal hyperbilirubinemia Cholelithiasis, cholecystitis Cirrhosis or portal hypertension Fat-soluble vitamin deficiency (A, D, E, K)

Metabolic Hyponatremic, hypochloremic dehydration Heat stroke Metabolic alkalosis Diabetes mellitus Respiratory Clubbing Asthma Chronic obstructive pulmonary disease Recurrent pulmonary infiltrates Chronic cough or sputum production Barrel chest Hemoptysis Pneumothorax? Cor pulmonale Nasal polyps Other Infertility (males)

noted at or shortly after birth. Meconium ileus is a common cause of intestinal obstruction in the newborn; these infants present with abdominal distention, bilious vomiting, and failure to pass meconium stools. Abdominal radiographs show dilated loops of small bowel and a ground-glass appearance in the cecal region, signifying pockets of air within the thick meconium. A barium or water-soluble contrast enema may show a small distal colon (Fig. 16-27). In cases of meconium ileus associated with prenatal rupture and meconium peritonitis, abdominal calcifications may be noted on plain radiographs, and at laparotomy thick, tarlike meconium is found in the terminal ileum (Fig. 16-28). Prolonged neonatal jaundice, generalized edema in a breast-fed or soy formula–fed infant, or hypochloremia with heat prostration are less common presentations of CF in early infancy.

Figure 16-27  Meconium ileus. Barium enema in a newborn with meconium peritonitis and evidence of a small, unused distal colon (note the small extraluminal calcifications).

Figure 16-28  Meconium ileus. Gross appearance of the thick, tarlike meconium found at laparotomy in meconium ileus.

A combination of poor weight gain; loose, foul-smelling, bulky stools; and a voracious appetite are signs and symptoms that most clinicians associate with CF and rarely present a diagnostic problem. Rectal prolapse (Fig. 16-29) may be the presenting feature of CF in about 5% of cases and may recur multiple times. Rarely, the patient may undergo a surgical procedure for the rectal prolapse before the underlying diagnosis is suspected. Rectal prolapse is thought to result from chronic malnutrition, reduced abdominal musculature, and voluminous stools. It does not generally pose problems once the diagnosis has been made and the patient started on supplemental pancreatic enzymes. Gastrointestinal complications of CF include biliary cirrhosis, portal hypertension, hypersplenism, esophageal varices, and clinical evidence of fatsoluble vitamin deficiency. A chronic productive cough or wheezing in a patient with digital clubbing suggests the diagnosis of CF until proved otherwise. Patients may present with a history of recurrent pneumonia or sinus disease; it is worth noting that the large majority of patients with CF demonstrate pansinusitis radiographically. Nasal polyps (Fig. 16-30) may be a presenting manifestation of CF and are seen in about 20% of patients at some time during the course of the disease. Other initial respiratory presentations are listed in Table 16-7. The clinical course and severity of the disease vary remarkably. Many patients do not develop signs or symptoms of respiratory disease other than an intermittent, loose cough for years. Other patients have persistent symptoms from early infancy and are rarely without a cough. These patients tend to require frequent visits to the physician and frequent hospitalization and are more likely to have poor weight gain. Virtually all patients develop a loose, productive cough; the sputum may be blood-tinged during acute respiratory illnesses. Hemoptysis occurs in more than half of adult patients with CF and a considerable proportion of adolescents as well. Tachypnea, dyspnea, diffuse crackles, and digital clubbing will develop in most patients. Later, diffuse bronchiectasis, hyperinflation, and a barrel chest deformity are noted. The usual cause of

Figure 16-29  Rectal prolapse is shown in a toddler not previously recognized as having cystic fibrosis.

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Figure 16-30  Cystic fibrosis. Nasal polyps in a patient with cystic fibrosis

death in patients with CF is respiratory failure, often in conjunction with cor pulmonale.

Complications Complications of CF include hypochloremic metabolic alkalosis, hemoptysis, pneumothorax, pneumomediastinum, hypertrophic pulmonary osteoarthropathy, distal intestinal obstructive syndrome, biliary cirrhosis, pancreatitis, cor pulmonale, and respiratory failure. Among the respiratory complications, massive hemoptysis and pneumothorax with or without pneumomediastinum are potentially life-threatening. Blood streaking of sputum is not uncommon, and massive hemoptysis from rupture of dilated superficial bronchial arteries during chronic suppurative infections may occur in a small percentage of patients. Pneumothorax (see Fig. 16-32, C) generally occurs from rupture of bullous lesions created from chronic airway obstruction and presents with acute onset of chest pain and shortness of breath with or without cyanosis. Pneumomediastinum and subcutaneous emphysema may result (Fig. 16-31). Hypertrophic pulmonary osteoarthropathy involving the knees and other major joints occurs in about 5% of patients and is characterized by pain, swelling, and limited mobility of the affected joint.

Figure 16-31  Cystic fibrosis. A teenager with cystic fibrosis, severe respiratory disease, pneumomediastinum, and massive subcutaneous emphysema.

Acute or chronic pancreatitis occurs almost exclusively in patients with pancreatic sufficiency. These patients present with the acute onset of abdominal pain and vomiting and may have recurrent bouts of pancreatitis before the pancreas “burns itself out.” Laboratory evaluations reveal elevations of serum lipase and amylase. The differential diagnosis in patients with CF with acute abdominal pain and vomiting includes cholecystitis, appendicitis, and distal intestinal obstruction syndrome. The last is characterized by crampy abdominal pain; constipation; vomiting; and, occasionally, a palpable mass in the right lower quadrant. A history of missed pancreatic enzyme supplements may exist, especially in adolescents. Excessive loss of chloride and sodium from the salt can lead to hypochloremic metabolic alkalosis in infants who do not receive salt supplementation in their formula, especially during the summer months. This can occur even in the euvolemic state, and if severe, can result in anorexia and vomiting. Right ventricular hypertrophy and cor pulmonale are findings in the terminal stages of many patients with CF with severe pulmonary disease.

Radiographic Findings The radiographic and CT findings in CF vary from early hyperinflation and patchy areas of atelectasis to a generalized increase in peribronchial markings with bronchiectasis, parenchymal densities, and large cystic areas noted in severe disease (Figs. 16-32 and 16-33). The Brasfield scoring system is widely used as a means of classifying chest radiographs of these patients. It is based on a 25-point system for findings, such as hyperinflation, linear densities, cystic lesions, atelectasis, and right-sided cardiac enlargement or pneumothorax.

Diagnosis Diagnosis of cystic fibrosis can be suggested by elevation of serum trypsinogen in the newborn. This test, immunoreactive trypsinogen (IRT), is used as a screening tool in most states as part of the extended newborn screen. Many laboratories will further analyze samples with elevated ITR for common genetic mutations of the CFTR gene. As a result, newborns may be referred to the local CF center having had a genetic diagnosis made before the first visit. Sensitivity of genetic testing for CF varies with ethnic group and remains approximately 92% for the white population with the 87-mutation panel, and 97% to 99% with a comprehensive (1300-mutation) screen. Still, the “gold standard” for initial diagnosis of CF remains the quantitative sweat test. Another advantage of the sweat test is that the results are available the same day, rather than the delay of several weeks with genetic testing. In sweat testing, pilocarpine is driven into the skin with a weak electrical current (iontophoresis) and the resulting sweat is collected with a wristband containing a coiled capillary tube, which wicks the sweat and stores it for analysis. The sweat test must be performed in an experienced laboratory, such as those associated with one of the Cystic Fibrosis Foundation–approved CF centers. Both false-negative and false-positive results are alarmingly common in inexperienced hands. Sweat chloride values of 60 mEq/L or greater are diagnostic of CF. A second sweat test is generally required for confirmation of diagnosis. Sweat chloride values of 40 to 60 mEq/L (or 30 to 60 mEq/L in infants less than 6 months old) are considered borderline and generally require a second test. False-positive values can occasionally occur, but disorders that cause this are readily distinguished clinically from CF. Other entities that elevate sweat chloride include adrenal insufficiency, ectodermal

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A

635

C

B

Figure 16-32  Cystic fibrosis. Typical progression of radiographic changes in cystic fibrosis. A, A 2-month-old child with hyperinflation and right middle lobe atelectasis. B, A 15-year-old girl with peribronchial cuffing, hyperinflation, and bronchiectatic changes, particularly of the lower lobes. C, A 21-year-old man with severe respiratory involvement and an unsuspected right pneumothorax.

dysplasia, nephrogenic diabetes insipidus, hypothyroidism, mucopolysaccharidoses, glucose-6-phosphatase deficiency, hypoproteinemia, and anemia associated with malnutrition. Patients with CF who present with severe malnutrition and edema may have false-negative values on initial sweat tests until their nutritional status improves. Genetic testing is quite useful in the evaluation of the infant who produces too little sweat for analysis, the patient with borderline sweat chloride, or the patient with normal sweat chloride but clinical features characteristic of CF. Recently, broad testing of the CFTR gene has been offered. It includes all known mutations of both coding and noncoding DNA, which has greatly increased the sensitivity of genetic screening. Mutation-specific therapies have been proposed in CF, and therefore genetic testing of all patients with CF is recommended.

SUDDEN INFANT DEATH SYNDROME Sudden infant death syndrome (SIDS, also called sudden unexplained death in infancy) is defined as the unexpected death of an infant younger than 1 year of age who has been otherwise healthy and in whom there is no demonstrable pathologic basis for the death as determined by a thorough

A

postmortem examination and death scene investigation. The annual incidence of SIDS in the United States is now approximately 0.5 per 1000 live births. SIDS is the leading cause of death after the neonatal period, with a peak incidence occurring at 2 to 3 months of life and rarely occurring after 6 months of age. Most of these infants die soundlessly during sleep, without any obvious sign of agitation. On occasion, a history of the recent onset of a viral illness may be elicited. SIDS is not a single disease entity but a final common pathway for a number of diseases with early and fatal presentation. Diseases recognized to cause sudden death in infants include the long-QT syndrome (a cardiac conduction defect) and inborn errors of fatty acid oxidation. Accidental or intentional smothering of an infant is usually impossible to differentiate from SIDS at autopsy. The “apnea hypothesis” of SIDS (failure of infants to breathe sufficiently in sleep) has been discarded by the medical community, especially in face of those infants dying of SIDS on home monitors who did not have apnea. Thus the home apnea monitor is of no value in preventing SIDS; even in premature infants with apnea of prematurity, monitoring is of no value after the 44th week of postconceptional life. The true cause of death in most SIDS victims remains unexplained. In SIDS there appears to be a vulnerable period, and other stressors (such as parental smoking, prone

B

Figure 16-33  Cystic fibrosis. CT scans of a 19-year-old woman with severe bronchiectasis and cystic fibrosis. Thickened airways are seen in longitudinal section through the upper lobes (A) and in cross-section in an image from the lower lobes (B).

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sleep position, an overheated room, or an unsafe sleep environment) have been shown to increase the SIDS rate. No test can accurately predict which infant is at risk for SIDS. The sleep study (or pneumogram) is of no value in identifying infants at risk for SIDS. Screening electrocardiograms for newborns (looking to identify those with prolonged QTc) have not as yet been recommended by the American Academy of Pediatrics. One intervention that appears to have had an impact on SIDS incidence is the “Back to Sleep” campaign, in which parents are educated to keep their newborn in a supine position during sleep. The rate of SIDS in the United States has declined since the institution of this policy in 1992. Counseling parents to smoke outside the home and car is another important intervention that pediatricians can make. The term apparent life-threatening event (ALTE) was coined to replace “near-miss SIDS.” This term refers to an event, witnessed by a parent or caregiver, that is frightening to the observer and that is characterized by some combination of apnea, color change, marked change in muscle tone, choking, or gagging. The observer of an ALTE generally feels that the event would have resulted in the infant’s death had he or she not intervened. The role of GER as a major cause of ALTE is controversial, yet anecdotally GER seems to be one of the most common associations with ALTE. In these cases the infant has reflux, laryngospasm, and obstructive apnea. These events are usually associated with forceful respiratory efforts and a color change. Other disorders that can cause ALTE include sepsis/ meningitis, inborn errors of metabolism, seizure, pertussis, respiratory syncytial virus infection, congenital cardiac disease, poisoning, and child abuse. Evaluation of an ALTE includes a careful history and physical examination (including funduscopy). Other tests may be necessary based on the history, and could include electrocardiogram; serum electrolytes, glucose, calcium, and ammonia; blood cultures, CBC, and white cell differential; blood gases; and toxicology screen. Evaluation for increased intracranial pressure may include a cranial CT and lumbar puncture when clinically indicated. Studies also include a sleep study that measures respiratory and abdominal wall movement, airflow at the mouth or nose, pulse oximetry and heart rate and, in some cases, pH monitoring of the distal esophagus. Of the above-described studies, the sleep study is usually the least revealing.

APNEA Clinically meaningful apnea can be defined as the absence of airflow for at least 20 seconds or apnea accompanied by cyanosis or bradycardia. Apnea can be central, obstructive, or mixed. Absence of airflow accompanied by the cessation of chest and abdominal wall movement distinguishes central apnea. Obstructive apnea is the most common form of apnea and is characterized by the lack of airflow at the nose or mouth despite continued respiratory efforts. The first description of it in 1892 in Sir William Osler’s The Principles and Practice of Medicine (under “chronic tonsillitis”) remains the best one: “At night the child’s sleep is greatly disturbed; the respirations are loud and snorting, and there are sometimes prolonged pauses, followed by deep, noisy inspirations.” Patients with obstructive sleep apnea (OSA) fall into two categories: those with normal upper airway anatomy and those with abnormal upper airway anatomy. The former group includes those with obesity, GER, sickle cell anemia, severe laxity of the supraglottic structures, and marked adenoidal or tonsillar enlargement. The latter group includes patients with Crouzon syndrome, Apert syndrome, Down syndrome, Treacher Collins syndrome, the Pierre Robin sequence, Arnold-Chiari malformation, Prader-Willi syndrome, Möbius

syndrome, and dwarfism. Children with OSA frequently do not have the adult pattern of obesity and daytime hypersomnolence; more often they fail to thrive and may have hyperactivity as a manifestation of inadequate sleep. Diagnosis of OSA requires a sleep study (polysomnogram) in which movement of the chest, movement of the abdomen, heart rate, arterial saturation, and end-tidal CO2 are measured. Staging of sleep during these studies is important as multiple arousals and/or awakenings may occur in OSA. The arousal-plus-awakening index can quantify the severity of the effects of sleep-disordered breathing on the quality of sleep and help direct management. Cardiac echo and electrocardiogram are indicated in cases of severe OSA because pulmonary hypertension is a common complication. Home apnea monitoring is of no value in OSA because the chest will continue to move, despite absence of airflow. Management of OSA is directed at the underlying disorder (such as tonsillectomy in cases of tonsillar hypertrophy), but cases that result from collapse of the upper airway structures may require constant positive airway pressure administered via nasal mask. Central apnea may occur in infants with seizure disorders or central nervous system pathology such as Arnold-Chiari syndrome and intraventricular hemorrhage, prematurity, or congenital central hypoventilation syndrome (formerly known as Ondine’s curse). Mixed apnea occurs when an obstructive apneic episode is followed by a central pattern of apnea (or vice versa). Other studies that may be useful in apnea (all types) include ventilatory responses to hypercapnia or hypoxia, a chest radiograph, an electroencephalogram, CT of the brain, pH probe, and/or bronchoscopic evaluation of the airway, particularly in those patients with evidence of obstructive apnea. Laboratory evaluation may include any or all of the following: CBC, arterial or venous blood gases, chest radiography, and electrocardiogram.

ASPIRATION Penetration of oral or gastric contents into the lungs is a common problem in patients with neurologic impairment. Aspiration can occur in patients with incoordination of swallowing and in neurologically normal patients with severe GER. The terms commonly used to describe these forms are “aspiration from above” and “aspiration from below.” Patients with impaired mental status can have both forms of aspiration. Medical treatment of GER and feeding the patient via gastrostomy or gastrojejunal tube may not be sufficient to prevent progressive lung disease in patients who continue to aspirate oral secretions. Ongoing aspiration of saliva leads to progressive injury to the lung and worsening respiratory impairment. Chronic inflammation leads to mixed restrictive– obstructive pulmonary disease (Fig. 16-34) and difficult-tocontrol asthma. It is chronic aspiration that leads to the premature death that occurs in most children with profound neurologic impairment. Aspiration can also be present in patients who are intellectually normal but who have delayed gastric emptying and GER. “Microaspiration,” which refers to aspiration of tiny, essentially undetectable amounts of gastric contents, can cause intense bronchospasm due to the acidity of the aspirated material. In cats, just 50 µL of 0.1 N hydrochloric acid causes a fourfold increase in airway resistance. Patients with impaired clearance of food from the esophagus (achalasia) can also aspirate during sleep, despite having otherwise normal neurologic status. Aspiration should be suspected in patients with poorly controlled asthma despite aggressive management of asthma, especially in patients with neurologic impairment.



Figure 16-34  Chronic aspiration. Chest radiograph of a 20-year-old with lifelong chronic, severe aspiration shows increased interstitial markings and areas of consolidation–atelectasis.

Determining whether aspiration exists in a patient remains challenging, as there is no gold standard for its diagnosis. For evaluation of swallowing, a barium contrast swallowing study using different consistencies of barium (thin liquid, paste, solid) can determine what consistency of food can be given safely to the patient (Fig. 16-35). It can document where in the swallowing cycle the main pathology resides. Parameters assessed during the modified barium swallow include all of the following: initiation of the swallow (timing and oral control); duration of the swallow; adequacy of the swallow to clear food bolus; presence, amount, and timing of aspiration; protective reactions in response to aspiration; and soft palate control during swallowing. In neurologically impaired individuals, particularly those fed via feeding tubes, the radionuclide “salivagram” is a rapid means of determining whether the patient is aspirating his or her oral secretions. A small radioactive bolus is placed under the tongue, and the patient

Figure 16-35  Aspiration. Barium swallow demonstrating aspiration. Barium has coated the upper airway, outlining the trachea. (Courtesy Avrum Pollack, MD, Pittsburgh, Pa.)

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is then monitored under a gamma camera. The bolus is then traced: if it enters the lung it bifurcates at the carina; if it enters the esophagus it can be followed into the stomach (Fig. 16-36). The salivagram has the advantages of being physiologic (the patient is not held in an arbitrary position) and requiring no preparation. It results in a low radiation dose to the patient, similar to that of the chest radiogram and a fraction of that used in a barium swallow. The radionuclide gastric emptying or “milk” scan, which uses the same radiation dose as the salivagram, can demonstrate reflux and delay in gastric emptying. Delayed gastric emptying is important to document because its treatment is essential to the successful treatment of GER. The milk scan is fairly insensitive for aspiration of refluxed gastric contents. When aspiration is strongly considered, flexible bronchoscopy with bronchoalveolar lavage (BAL) for assessment of lipid-laden macrophages (Fig. 16-37) is a useful test. Alveolar macrophages from the BAL fluid are stained for fat. Globules of fat found in a predominance of the macrophages suggest aspiration of food. The sensitivity of the test is unknown, but when moderate or high numbers of macrophages are found, it is believed to be specific for aspiration. Inspection of the upper airway may reveal edema and erythema of the aryepiglottic folds (Fig. 16-38).

DIAGNOSTIC TECHNIQUES Diagnosis and treatment of children with respiratory complaints may be assisted by the use of pulmonary function tests (PFTs). With appropriate training, and with the technician’s patience and encouragement, most children 6 years of age or older can cooperate with simple spirometry and measurements of lung volumes (Fig. 16-39). Interpretation of PFT results in children must take into account variability in performance by children and differences in age, height, weight, sex, and race. In children, PFTs may be useful in establishing the severity of respiratory disease, in guiding the choice of therapy, and in measuring the response to a therapeutic regimen. In some diseases, such as cystic fibrosis or asthma, evidence of increasing airway obstruction may indicate the need to initiate or increase the aggressiveness of therapeutic intervention. Spirometry is the measurement of airflow after a maximal inhalation (to total lung capacity) and with a rapid and forceful exhalation (to residual volume). The inspection of the shape of flow–volume curves generated during forced expiratory maneuvers is critical for the appropriate interpretation of PFT results (Fig. 16-40). The initial portion of the flow–volume curve is effort dependent, whereas the terminal 25% of the expiratory maneuver is dependent on elastic recoil and airway resistance and is relatively independent of patient effort. A normal-appearing flow–volume curve is shown in Figure 16-40, A. With increased airway resistance distal to the central, large airways, the curve becomes concave toward the abscissa (volume axis). This type of concavity therefore suggests obstruction to airflow (Fig. 16-40, B). Spirometry can also be used to document reversibility of obstruction after bronchodilator inhalation (Fig. 16-40, B). Patients with suspected asthma may develop this configuration of flow–volume curve after bronchoprovocation tests such as inhaled histamine, methacholine, cold air, or after exercise testing. The restrictive pattern shown in Figure 16-40, C demonstrates preservation of expiratory flow function but a reduction in total lung volume. Interstitial lung diseases are among the entities that typically produce this pattern on pulmonary function testing.

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Figure 16-36  Abnormal salivagram demonstrates severe aspiration into the lungs at the end of a study. (Courtesy Martin Charron, MD, Pittsburgh, Pa.)

The shape of the flow–volume curve may also be helpful in evaluating upper or central airway pathology (Fig. 16-41). Fixed obstruction of the upper airways, as in tracheal stenosis, produces a limitation and plateau of both the inspiratory and expiratory loops of the flow–volume curve. A reduced inspiratory flow and a plateau of the inspiratory loop are suggestive of variable extrathoracic obstruction seen in disorders such as laryngomalacia and vocal cord dysfunction. Chondromalacia of the intrathoracic trachea or major bronchi results in a picture of variable intrathoracic obstruction with reduction and flattening of the expiratory limb because with forceful expiration, pleural pressure exceeds that inside the airway lumen, and the weakened bronchial wall cannot withstand that pressure gradient. Disease states that affect lung growth would be expected to alter lung volume in addition to airway caliber. These diseases include pulmonary hypoplasia due to severe oligohydramnios or space-occupying lesions (e.g., diaphragmatic hernia or cystic adenomatoid malformation), bronchopulmonary dysplasia, as well as conditions that alter the growth of

the rib cage (thoracic dystrophies, radiation). Plethysmography is based on the principle of Boyle’s law. With the subject sitting in a fixed-volume chamber (“box”) and breathing with a mouthpiece, a shutter is closed in the inspiratory limb of the breathing circuit. The subject makes small panting maneuvers, resulting in small changes in the volume of the lung and corresponding inverse volume changes in the box. This allows for calculation of the lung volume at which the panting efforts began. The subject usually begins the maneuvers at the end of a breath, and this “resting” lung volume is termed functional residual capacity (FRC). A lung capacity is the sum of two or more lung volumes; in the case of FRC, it is the sum of residual volume (RV, the amount of gas remaining in the lung after a maximal exhalation) and expiratory reserve volume (ERV, the amount of gas exhaled from resting lung volume until the lung is empty). In combination with spirometry, other lung volumes and capacities can be calculated (see Fig. 16-39). The diffusing capacity for carbon monoxide (DlCO) is an integrative measurement that describes the transfer of oxygen

Figure 16-37  Lipid-laden macrophages obtained via bronchoalveolar lavage. If seen in moderate and high numbers, this finding is specific for aspiration of food, either the result of abnormal swallowing or from refluxed gastric contents. (Courtesy Paul Dickman, MD, Pittsburgh, Pa.)

Figure 16-38  Gastroesophageal reflux. Endoscopic photograph of the larynx of a patient with severe gastroesophageal reflux. Erythema and edema of the aryepiglottic folds exist. (Courtesy Robert Yellon, MD, Pittsburgh, Pa.)

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Where: TLC  IC  FRC and TLC  VC  RV

Inspiratory capacity

Total lung capacity

639

Vital capacity

Tidal volume

Functional residual capacity

Residual volume

Figure 16-39  Schematic representation of lung volumes.

from the alveolus into the red blood cell. This transfer is proportional to the surface area of the alveolar–capillary membrane and to the pressure gradient for carbon monoxide between the alveolus and the blood, and inversely proportional to the thickness of the alveolar–capillary membrane. CO is more soluble in blood than in lung tissue, and it binds rapidly and tightly to hemoglobin in the blood. These properties maintain a diffusion gradient for CO. The patient exhales completely to residual volume and inhales to total lung capacity a gas mixture containing 0.3% carbon monoxide, and holds his or her breath for 10 seconds during which CO diffuses into the blood. The uptake of CO is divided by the partial pressure gradient for CO to calculate DlCO. Diseases that decrease the surface area for diffusion (emphysema, pulmonary emboli, resection of lung tissue) or diseases that increase the thickness of the alveolar–capillary membrane (fibrosis, pulmonary edema, proteinosis) would both decrease the diffusing capacity of the lung. Increased DlCO is much less common but can be seen in patients with alveolar hemorrhage, polycythemia, or during exercise (via recruitment of

Normal pattern

more pulmonary capillaries). This test may be useful in evaluating patients with diffuse lung diseases or in assessing patients with pulmonary vascular obstruction.

PULMONARY FUNCTION TESTS IN INFANTS Most of the tests described above have been adapted to infants, with the obvious challenge that maximal efforts cannot be elicited voluntarily. Infants are usually sedated with chloral hydrate, and placed supine with a mask over mouth and nose to measure airflow and pressure at the mouth. These techniques require specialized equipment not available in most pulmonary function laboratories. The raised volume rapid thoracic compression (RV-RTC) technique is one method that has been used to generate maximal expiratory flow by applying a positive pressure externally to the chest. The infant’s lungs are first inflated via the facemask to a predetermined pressure (typically 30 cm H2O). This results in a lung volume close to total lung capacity. Forced exhalation is achieved with a plastic jacket that

Obstructive pattern

Restrictive pattern

Expiration

Flow (L/sec)

TLC

RV

Inspiration 100

0

100

0

100

0

Vital capacity (%)

A

B

C

Figure 16-40  Flow–volume curves obtained by spirometry. A, Normal configuration of expiratory flow curve. B, Reduced expiratory flow rates suggest obstructive airway disease. C, Preservation of flow rates with a diminished vital capacity is consistent with restrictive lung disease. RV, residual volume; TLC, total lung capacity.

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Variable extrathoracic obstruction

Fixed obstruction

Table 16-8

Expiration Newborn Infant (60 >75 >75

stridor, unexplained or chronic cough or wheeze, suspected airway malformations or compression, atelectasis, or recurrent pneumonia. To obviate the need for open lung biopsy, flexible bronchoscopy and bronchoalveolar lavage may be particularly useful in immunosuppressed patients with unexplained pneumonia. Flexible bronchoscopy should not be attempted when there is a strong clinical or radiographic suggestion of inhaled foreign body. In these cases, rigid bronchoscopy is the procedure of choice to remove the object. Transbronchial biopsy is performed routinely in patients who have undergone lung transplantation in order to screen for rejection. This technique involves passing biopsy forceps via the suction channel of a bronchoscope under fluoroscopic guidance. It is of occasional usefulness in clinical situations in which the lesion is diffuse, such as interstitial lung disease. Tissue yield is low, and analysis requires an experienced pathologist. Risk of transbronchial biopsy is pneumothorax (approximately 1%) and bleeding. Arterial blood gas measurements are the standard for assessing gas exchange in critically ill patients. Pulse oximetry and analysis of the CO2 in exhaled air have become useful noninvasive means of assessing ventilatory status and have been used to avoid routine arterial puncture in both inpatient and outpatient settings. An example is the 16-year-old with Duchenne muscular dystrophy who presents with dyspnea and headache and is found to have an end-tidal CO2 level of 90 mm Hg, prompting long-term institution of noninvasive ventilatory support. Venous or capillary blood gases can give accurate estimations of pH and Pco2 but are not used for assessment of arterial Po2. Normal arterial pH, Po2, and Pco2 values are provided in Table 16-8. Sleep studies are still not widely available for the pediatric population, but they remain an important diagnostic tool. They are useful in the diagnosis of obstructive and central apnea, hypoventilation, and hypoxemia during sleep, all of which can be inapparent on routine testing of the awake patient. Studies vary in complexity from a simple at-home overnight pulse oximetry study to full nocturnal polysomnography with assessment of sleep stage, movement of chest, abdomen, electromyogram of diaphragm, arterial saturation, heart rate, endtidal CO2, and eye movements. The “pneumogram” is an abbreviated form of the sleep study in which there is evaluation of chest wall movement, airflow by nasal thermistor (which measures temperature below the nostril), heart rate, and arterial saturation. The pneumogram is insensitive for obstructive apnea, because it does not assess ventilation (as it lacks CO2 measurement) and does not demonstrate sleep stage or changes in stage with respiratory events, but it is sensitive for central apnea and bradycardia. Bibliography American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome: The changing concept of sudden infant death syndrome: Diagnostic coding shifts, controversies regarding the sleeping environment, and new variables to consider in reducing risk, Pediatrics 116:1245–1255, 2005. Boucher RC: New concepts of the pathogenesis of cystic fibrosis lung disease, Eur Respir J 23:146–158, 2004. Busse WW, Lemanske RF Jr: Asthma, N Engl J Med 344:350–362, 2001.

Chernick V, Boat T: Kendig’s disorders of the respiratory tract in children, ed 6, Philadelphia, 1998, WB Saunders. Colombo JL, Hallberg TK: Pulmonary aspiration and lipid-laden macrophages: In search of gold (standards), Pediatr Pulmonol 28:79–82, 1999. Daley KC: Update on sudden infant death syndrome, Curr Opin Pediatr 16:227–232, 2004. Ferber R, Kryger M: Principles and practice of sleep medicine in the child, Philadelphia, 1995, WB Saunders. Finder JD: Understanding airway disease in infants, Curr Probl Pediatr 29:65– 81, 1999. Hyatt R, Scanlon P, Nakamura M: Interpretation of pulmonary function tests: a practical guide, ed 2, New York, 2003, Lippincott-Raven. Martinez FD, Morgan WJ, Wright AL, et al: Diminished lung function as a predisposing factor for wheezing respiratory illness in infants, N Engl J Med 319:1112–1117, 1988.

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Martinez FD, Wright AL, Taussig LM, et al; Group Health Medical Associates: Asthma and wheezing in the first six years of life, N Engl J Med 332:133– 138, 1995. Orenstein D, Rosenstein B, Stern R: Cystic fibrosis medical care, Philadelphia, 2000, Lippincott Williams & Wilkins. Orenstein D, Stern R: Treatment of the hospitalized cystic fibrosis patient, New York, 1998, Marcel Dekker. Orenstein SR: Update on gastroesophageal reflux and respiratory disease in children, Can Gastroenterol 14:131–135, 2000. Taussig LM, Wright AL, Holberg CJ, et al: Tucson Children’s Respiratory Study: 1980 to present, J Allergy Clin Immunol 111:661–675, 2003. Vaucher YE: Bronchopulmonary dysplasia: an enduring challenge, Pediatr Rev 23:349–358, 2002.

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SURGERY

17 

Katherine P. Davenport  |  Timothy D. Kane

INTRODUCTION General pediatric surgery encompasses a wide spectrum of disorders and malformations that overlap with various other medical and surgical specialties. The emphasis of this chapter is on the common conditions that may be seen in general pediatric primary care practices, including some unusual cases.

HEAD AND NECK Introduction Most lesions of the head and neck are benign in nature. Lesional location provides essential information about the probable diagnosis. Table 17-1 provides a summary of the common pediatric head and neck lesions by anatomic location. Physical examination and diagnostic imaging studies are important to generate a differential diagnosis and further determine the nature and extent of the lesion. Critical physical examination findings include determination of size, evidence of airway compromise, signs of inflammation, presence of sinus tracts, or ocular involvement. Computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound (US) have almost completely eliminated plain radiography in the evaluation of lesions of the head and neck. These modalities may better demonstrate details of the bony and vascular structures of the skull base and the cervical spine. Furthermore, underlying brain involvement as either the primary or secondary site may be visualized. Skull and facial films are of limited utility at present. Children with disorders of breathing, swallowing, or phonation require adjunctive endoscopic procedures (nasopharyngoscopy, laryngoscopy, and esophagoscopy) to aid in the diagnosis. Surgery is often required for head and neck lesions for both diagnostic and therapeutic purposes. Incision and drainage of a cervical abscess may provide a specimen for culture and a means of drainage for resolution. Excisional biopsy is critical to determine the specific pathology of a lesion and to assist with determining the need for further therapies. There are several important conditions of the head and neck in which surgery is unnecessary or may unduly create complications. These include hemangioma, torticollis, and benign reactive adenopathy.

Cervical Lymphadenopathy Benign reactive cervical lymphadenopathy is the most common mass in the lateral triangle of the neck. These lesions arise as nonspecific hyperplastic responses to infection of the upper respiratory tract (nose, sinuses, ears, mouth, and pharynx) or skin (face and scalp). Typically these nodes are less than 2 cm in size and are rubbery, oval, and isolated. They

characteristically occur in children between 2 and 10 years of age. Streptococcus pyogenes and Staphylococcus aureus are the most common organisms that produce this adenopathy. In most instances, the nodes spontaneously regress after resolution of the inciting infection. Bacterial infection within node(s) may lead to more significant enlargement with increased tenderness, erythema, and ultimately suppuration (Fig. 17-1). Aggressive antibiotic therapy in the early stages of infection may prevent the development of the late suppurative stages that require surgical intervention. Fluctuant masses should be aspirated or incised and drained. Various clinical presentations may occur with mycobacterial infections including local cervical adenopathy, pulmonary infection, and disseminated disease. The most common form is caused by one of the Mycobacterium avium-intracellularescrofulaceum (or MAIS) complex, which consists of approximately 15 organisms. These mycobacterial organisms typically produce local cervical disease. Mycobacterial tuberculosis usually presents with pulmonary infection but may rarely have supraclavicular or cervical lymphadenopathy (Fig. 17-2). In contrast, atypical mycobacterial infection usually involves the submandibular, submaxillary, or preauricular lymph nodal regions. Large, firm, immobile, and nontender lymph nodes may arise after inoculation. These may undergo spontaneous breakdown with the development of an abscess and sinus formation. Incision and drainage of fluctuant nodes may lead to a chronically draining sinus. The differential diagnosis of chronic cervical lymphadenopathy (i.e., nodes that persist beyond 4 weeks) includes cat-scratch disease, atypical mycobacterial infection, and tuberculosis. Cat-scratch disease, a common cause of lymphadenopathy in children, usually develops as a regional nodal enlargement 2 to 4 weeks after inoculation by either a dog or cat. There may be a local reaction to the scratch followed by the evolution of lymphadenopathy, which may persist for several months. On occasion these nodes become suppurative and fluctuant and require surgical drainage. The diagnosis may be made by serologic testing for the antigen or by polymerase chain reaction of nodal tissue. Alternatively, WarthinStarry, a histochemical silver stain for cat scratch, may identify the Bartonella organisms in tissue specimens (Fig. 17-3). Complete resection of the node and any tracts is usually curative. Antimycobacterial therapy is not indicated in most cases of MAIS infection. Cervical adenitis secondary to Mycobacterium tuberculosis infection is usually a manifestation of significant intrathoracic disease and requires aggressive antimycobacterial drug therapy. Surgery is usually unnecessary and should be avoided because of the risk of developing a chronically draining sinus (cervical tuberculosis). Lymphoma may present as painless cervical adenopathy. The absence of antecedent upper respiratory or cutaneous infections, the persistence of nodes beyond 6 weeks, size greater than 2 cm, and firm consistency should raise concern for malignancy. Although cervical adenopathy is more 643

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Table 17-1

Common Lesions of the Head and Neck in Infancy and Childhood

Region

Location

Common Lesions

Head

Scalp Ear Eyebrow Base of nose Parotid gland

Mouth

Tongue Floor of mouth Cheek and lip Alveolar ridge Midline

Hemangioma, dermoid cyst Preauricular sinus, tag Dermoid cyst Meningocele, encephalocele Hemangioma, lymphangioma, rhabdomyosarcoma, lymphoma, mixed tumor, parotitis Tongue-tie, macroglossia, lingual thyroid Ranula Papilloma, mucocele Tooth bud, epignathus Thyroglossal duct cyst, dermoid cyst, submental lymph node, goiter Branchial cleft cyst or sinus, lymphadenitis, lymphoma, lymphangioma, torticollis

Neck

Lateral

common in Hodgkin disease, non-Hodgkin lymphoma may also present with a cervical mass (Fig. 17-4). Incisional biopsy is diagnostic and mandated when these criteria are met. Other primary malignancies such as neuroblastoma and rhabdomyosarcoma may present as lateral neck masses. Secondary metastases from intraabdominal or head and neck tumors may also occur.

Thyroglossal Duct Cyst and Sinuses The differential diagnosis for midline neck masses includes thyroglossal duct remnants, dermoid cysts, and lymphadenopathy. During fetal development, the thyroid gland originates at the base of the foramen cecum and descends in the midline along the course of the thyroglossal duct close to the hyoid bone, until it reaches its final destination at the base of the neck. Failure of regression of the thyroglossal duct may lead to cyst formation (Fig. 17-5). These lesions are quite prone to infectious complications and require surgical excision. This excision requires resection of the midportion of the hyoid bone and ligation of the tract leading to the foramen cecum to prevent future recurrence (Fig. 17-6). Thyroid nodules are common in the pediatric population (Fig. 17-7). However, a greater incidence of malignancy occurs within these lesions in children. Therefore, thorough evaluation and management of these lesions are critical to a favorable outcome. These nodules are twice as common in girls as

Figure 17-1  Erythema and fluctuance identify the presence of an abscess. An abscess may be present without fluctuance, however, the result of induration from surrounding inflammation.

Figure 17-2  The skin overlying a tuberculous lymph node is often discolored and may break down into a chronically draining sinus.

boys. They typically present with a midline anterior cervical mass that moves with the thyroid gland. Initial physical examination determines the location of the lesion, as well as the presence of associated lymphadenopathy. In general, clinical findings are unreliable in distinguishing between benign and malignant disease. Although thyroid imaging studies are often indicated, they are rarely helpful in aiding with the diagnosis, unless there is evidence of multiple nodules. A multinodular goiter would suggest nodular Hashimoto disease, which is the most common benign lesion of the thyroid (Fig. 17-8). The utility of ultrasound in distinguishing benign from malignant disease on the basis of a cystic appearance of the lesions is also unhelpful. Furthermore, the utility of fine-needle aspiration cytology in the pediatric population remains an area of considerable debate; reports in the older medical literature suggested a much higher incidence of malignancy in thyroid nodules in children than do current studies. Consequently, there was a much stronger recommendation for surgical excision as the diagnostic procedure of choice. More recent reports have shown that the incidence of benign disease is approximately 20%. Therefore needle aspiration may avert surgical resections for benign disease. Needle aspiration cytology that shows a true malignancy or that has indeterminate pathology should be followed by surgical resection. Total thyroidectomy is recommended for malignant primary lesions; lobectomy

Figure 17-3  Warthin-Starry silver stain identifies the black-staining organisms associated with cat-scratch disease, seen on examination of an enlarged lymph node.

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Figure 17-4  Enlarged lymph nodes in unusual locations, such as in this patient with supraclavicular lymphadenopathy from non-Hodgkin lymphoma, require excisional biopsy to rule out malignancy.

Figure 17-5  Thyroglossal duct cyst produces a firm swelling in the midline of the neck. Its initial manifestation is sometimes a midline cervical abscess.

A

B

Figure 17-6  The surgical specimen shows the thyroglossal duct as it courses from the lesion to the hyoid bone (the thicker transverse piece of tissue) (A). The hyoid must be resected to gain access to the tissue that extends to the base of the tongue (foramen cecum), which must be ligated to prevent recurrence (B).

A

B

Figure 17-7  Nonfunctioning or “cold” thyroid nodule visualized by thyroid scan (A) and magnetic resonance imaging (MRI) (B) at surgery was found to be a benign follicular adenoma.

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Figure 17-8  Goiter in a 15-year-old girl, resulting from Hashimoto thyroiditis.

Figure 17-10  Thymic cyst extending from the anterior mediastinum on the right into the neck on the left of the photo.

and isthmusectomy are recommended for benign lesions in which cancer cannot be completely ruled out. Other miscellaneous conditions may occur in the anterior neck, such as midline branchial (cervical) cleft, a linear tract of epithelialized tissue in the anterior midline of the neck that occurs because of aberrant fusion of the branchial arches (Fig. 17-9). In addition, mediastinal lesions such as thymic cyst may present as midline cervical masses (Fig. 17-10).

Fibromatosis coli, or fibrous dysplasia of the sternocleidomastoid muscle, is commonly seen in infants and young children (Fig. 17-14). These children present with a mass in the lower neck with tilting of the head and face to the side of the lesion (Fig. 17-15). Parents most often bring their infants in because they are concerned about the possibility of a malignant tumor, whereas older children may present with hemi­ facial hypoplasia and asymmetry. Early recognition of this condition in infancy and the institution of daily physical therapy may avert surgery and long-term cosmetic deformity. Plagiocephaly and facial asymmetry are the sequelae of untreated deformities.

Branchial Cleft and Arch Anomalies Cysts and Sinuses Branchial cleft anomalies give rise to cysts and sinuses in the lateral triangle of the neck. Second branchial cleft anomalies are the most common and typically present as an opening along the lower anterior border of the sternocleidomastoid muscle. These sinuses have their origin in the tonsillar fossa and may travel between the carotid sheath to exit along the border of the sternocleidomastoid muscle. A complete fistula drains through a sinus opening (Fig. 17-11), whereas an incomplete fistula may present as a simple cystic structure in the subcutaneous tissue in the region (Fig. 17-12). Secondary infection of these lesions is common. Excision of the tract to the site of origin in the peritonsillar region prevents recurrence. Other branchial cleft and arch anomalies are less common (Fig. 17-13).

Figure 17-9  Midline cervical cleft.

Scalp and Face Lesions Scalp Hemangiomas are benign, congenital, vascular tumors that most frequently arise in the head and neck. These lesions are typically raised above the skin level and may be red or somewhat purple in color. They may blanch on contact. Often hemangiomas may not be present at birth but develop in the first few months of life. Rapid growth and expansion may occur, leading to platelet sequestration and coagulopathy,

Figure 17-11  Mucus may drain from a small punctum at the anterior border of the sternocleidomastoid, identifying it as the secondary opening of a second branchial cleft fistula. The primary opening lies in the tonsillar fossa.

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Figure 17-12  Cartilaginous remnants from the second branchial cleft present as a mobile cyst beneath the anterior border of the sternocleidomastoid (A). In another patient the cyst was infected, producing redness of the overlying skin (B).

A

known as the Kasabach-Merritt syndrome. This condition may be refractory to various medical maneuvers including steroids, radiation therapy, and chemotherapy. Despite significant growth in size during the first year of life, most hemangiomas have a benign course and undergo spontaneous resolution over the first 7 years of life (Fig. 17-16; and see Chapter 8). Surgical intervention is rarely necessary and should be reserved for those patients with impending airway compromise or periorbital involvement. Special consideration must be given to those patients with lesions extending toward the eye or impinging on the airway. Subsequent blindness or airway compromise may be the consequences if intervention is delayed. Dermoid cysts are congenital lesions that are composed of sequestered hair, skin, and sebaceous structures that occur in areas of embryonic fusion. These lesions are most frequent in the head and neck, but they may arise in other midline sites including the sacral, perineal, and sternal region. They are typically located in the head and neck along the lateral palpebral fissure, occipital scalp, and midline of the neck. Scalp dermoids are often well circumscribed, firm, and fixed to underlying deep structures such as bone, typically arising from the outer bony table of the skull. Midline scalp or back dermoids may have intracranial or intraspinal extension, respectively. They should always be evaluated by MRI before surgical intervention. Dural or central nervous system extension mandates neurosurgical consultation before resection. Treatment for these conditions is surgical (Fig. 17-17).

B

Face Several benign remnants of congenital structures may persist at birth, and they raise numerous management considerations. Preauricular skin tags are vestigial cartilaginous remnants that

are removed primarily for cosmetic reasons. In contrast, preauricular pits or sinuses are prone to infectious complications. These anomalies represent epidermal inclusion structures that are related to the embryologic formation of the ear. The sinus may be lined by pilosebaceous structures and exude a sebaceous-like fluid. Complete surgical excision of the sinus and subcutaneous cystic elements is curative. Because most of these lesions are asymptomatic, routine excision should be reserved for those patients who have had infectious complications. Surgically significant salivary gland pathology is uncommon in the pediatric population. Hemangiomas are the most common benign lesions of the parotid gland in children. As with hemangiomas in other sites, these may not be entirely visualized at birth and may occur over the first few months of life. A small cutaneous birthmark may be the only initial presentation. Rapid growth and significant asymmetry may become apparent (Fig. 17-18). Fortunately, these lesions spontaneously involute with time. In the absence of early complications, surgery, sclerotherapy, or intralesional injection techniques should be reserved until the period after involution. Other causes of parotid enlargement in children include viral (mumps), bacterial (staphylococcal), and mycobacterial (atypical mycobacterial infection or tuberculosis) infections, as well as chronic inflammatory conditions. Treatment specific to these conditions is indicated. Various intraoral lesions may arise that have surgical significance primarily because of their effects on swallowing, speech, and breathing. Tongue-tie (ankyloglossia inferior) occurs commonly in infancy, usually resolving spontaneously. Some cases persist, and these children may have impaired speech development. Usually a thin membranous structure,

Figure 17-13  First branchial arch fistula, previously diagnosed as an infected lymph node. The location of the secondary opening is near the angle of the mandible.

Figure 17-14  The sternocleidomastoid in a newborn with torticollis may exist as a tight tendon-like cord or may swell and appear as a discrete tumor in the midportion of the muscle, pictured here.

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Figure 17-16  Involuting parotid and neck hemangioma. Note the grayish discoloration indicative of resolution. Figure 17-15  Long-standing torticollis may cause permanent “wry-neck,” facial shortening of the affected side of the face, and plagiocephaly.

the frenulum, regresses with feeding. A persistent frenulum may impair speech and feeding. Simple division is therapeutic. Similarly, ranulas may form as pseudocysts in the floor of the mouth. Some spontaneously resolve, whereas a few may become quite large and impair lingual mobility, feeding, speech, and most significantly, breathing. Marsupialization or complete excision is curative (Fig. 17-19). Lymphangiomas of the floor of the mouth may pose especially challenging management problems (Fig. 17-20). These lesions may cause significant macroglossia that obstructs the airway, requiring tracheostomy. Small vesicular lesions may occur on the lingual surface and exude fluid that may become purulent. Suppurative glossitis may require systemic antibiotic therapy. In addition to airway complications, problems with speech development and mandibular growth may occur. Some authors have proposed partial glossectomy as a therapy. More recent therapies for large intraoral and cervical lymphangiomas extending to the floor of the mouth involve sclerosant injection (hypertonic saline, alcohol, or OK-432) to avoid the morbidity and disfigurement associated with surgery in these areas. Lingual thyroid is a rare developmental anomaly of the thyroid. Congenital failure of thyroid descent results in

A

persistence of thyroid tissue at the base of the foramen cecum, giving rise to this problem. At birth infants may present with acute airway obstruction, whereas older children may describe feeling a lump in the throat with swallowing. This condition is often associated with hypothyroidism. Transoral excision requires permanent thyroid replacement because these lesions typically represent the only functioning thyroid tissue in these children.

CHEST Introduction Neonatal respiratory distress is rarely of surgical origin. Although medically related conditions such as transient tachypnea of the newborn (TTN) and pneumonia may cause significant symptoms, severe dyspnea, hoarseness, or stridor requires urgent assessment and possible surgical intervention. These latter symptoms should alert the practitioner to the possibility of a problem requiring surgical attention. If the plain radiographs rule out pneumothorax, atelectasis, and pneumonia, the differential diagnosis of these conditions may include proximal obstructive airway lesions, intrathoracic masses, lung bud anomalies (bronchopulmonary foregut malformations), or abdominal masses. For example, infants with a lung bud anomaly such as a cystic pulmonary adenomatoid

B

Figure 17-17  A, Midline scalp dermoid cysts may have intracranial extension and should always be evaluated by MRI before surgery. B, The dermoid in this 2-year-old child extends to but not through the dura.

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Figure 17-18  Facial hemangioma covering the eye requires medical intervention with prednisone or possibly with propranolol to hasten resolution and avoid loss of sight from amblyopia.

malformation (CPAM) or congenital lobar emphysema (CLE) or, alternatively, an infant with a diaphragmatic hernia may present in a similar manner. Second, a newborn who fails to respond to standard therapy for a presumed pulmonary disorder should be evaluated for a potential surgical etiology. Examples include a premature newborn with tracheoesophageal fistula and esophageal atresia or a neonate being treated for group B streptococcal sepsis who also has a right-sided diaphragmatic hernia. The clinical evaluation of these patients should include both anteroposterior (AP) and lateral radiographs of the chest. Particular focus should be directed to the soft tissue views of the neck, mediastinum, and airway contour. Fluoroscopic examination provides critical insight into the airway contour and diaphragmatic mobility throughout the respiratory cycle. Esophagogram with either barium or water-soluble contrast may be useful to delineate a vascular ring or mediastinal mass (Fig. 17-21). More invasive studies such as upper airway and esophageal endoscopy may be necessary to elucidate other surgical causes of respiratory distress. Surgical causes of respiratory distress may be subclassified into three major categories: upper airway, intrathoracic, and extrathoracic.

Upper Airway The inability of the neonate to breathe orally at birth raises the possibility that an upper airway obstructive lesion may be the source of respiratory distress in this patient population. The newborn infant who is unable to nurse or who has paroxysmal asphyxia (cyclic dyspnea) should undergo a thorough airway and cardiopulmonary evaluation. Lesions involving the upper airway create a characteristic “air hunger” that may

Figure 17-19  A ranula arises in the floor of the mouth, caused by congenital obstruction of the sublingual duct.

649

A

B Figure 17-20  A, Cervical cystic hygroma. B, MRI demonstrates its juxtaposition to the airway structures and vessels in the neck. Acute enlargement at birth secondary to hemorrhage may lead to airway compression.

progress to respiratory failure in the neonate. The respiratory difficulties are most marked during the expiratory phase of the cycle, when the airway tends to collapse around the lesion. These infants may be asymptomatic during the inspiratory component of the respiratory cycle, when the airway reaches its greatest diameter. The differential diagnosis for these symptoms should include choanal atresia, esophageal atresia, tracheoesophageal fistula, vocal cord paralysis, nasopharyngeal tumors, oropharyngeal masses, and foreign bodies. The initial evaluation of infants with presumed airway obstruction should include the passage of a nasogastric tube. Signs of pharyngeal obstruction suggest choanal atresia. This obstruction may be membranous (90%) or bony (10%). Half of these patients may have other forms of associated craniofacial or remote congenital anomalies that require concurrent evaluation and management. Nasopharyngoscopy is diagnostic in most cases. The oral airway must be maintained, and the baby must be fed via gavage feedings until transpalatal repair. Oropharyngeal obstruction may be caused by macroglossia or jaw bony abnormalities. Beckwith-Wiedemann syndrome is associated with lingual hypertrophy and gigantism (Fig. 17-22). Presentation in the newborn should alert the practitioner to the possibility of hypoglycemia secondary to hyperinsulinism. Permanent neurologic sequelae may result from diagnostic delay. Sublingual or lingual lymphangiomas may be associated with massive macroglossia that leads to airway distress. The hypoplastic and recessed mandible associated with Pierre Robin syndrome may cause a normal-sized tongue to fall posteriorly and obstruct the airway (Fig. 17-23).

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Figure 17-23  In Pierre Robin sequence, the hypoplastic mandible positions the tongue posteriorly, potentially obstructing the upper airway.

Figure 17-21  Midthoracic compressions into the esophageal barium column identify the presence of vascular ring anomalies (in this case, pulmonary artery sling).

The association of cleft palate and cardiac defects with Pierre Robin syndrome may further exacerbate respiratory distress. Prone positioning of the infant may assist breathing and avert the need for tracheostomy. Alternatively, tracheostomy placement may provide a safer temporizing measure to allow adequate mandibular growth and development and to prevent

obstruction. Newer techniques of mandibular distraction may avoid the need for prophylactic tracheostomy. Laryngeal lesions distinctively present with hoarseness, faint crying, or complete aphonia in association with dyspnea. The differential diagnosis for these patients includes laryngomalacia, laryngeal atresia, laryngeal webs, laryngeal clefts, subglottic stenosis, and vocal cord paralysis. Emergency tracheostomy is often indicated in these patients because of the inability to secure an airway, as occurs in laryngeal atresia. Direct airway contamination may occur with feeding in patients with laryngeal clefts because of the communication between the pharynx and the posterior laryngeal defect. Pharyngeal masses may be another source of upper airway obstruction. These masses include branchial cleft remnants, dermoids, pharyngeal duplications, hemangiomas, lymphangiomas, lingual thyroids, sublingual teratomas, and Zenker diverticula. Large cervical masses such as a cystic hygroma (lymphangioma) (Fig. 17-24) and cervical teratoma (Fig. 17-25) may induce airway compression and cause dyspnea. Antenatal diagnosis of the lesions may indicate a potential airway emergency. The ex utero intrapartum treatment (EXIT) procedure allows time to secure airway control before division of the umbilical cord (Fig. 17-26).

Mediastinum and Diaphragm Mediastinal masses are uncommon in the pediatric population. The limited space of the thoracic cavity predisposes normal structures to be compressed by space-occupying lesions. Masses in this anatomic region may lead to numerous

Figure 17-22  Beckwith-Wiedemann syndrome. Note hemihypertrophy on the left side, along with the prominence of the tongue. (Courtesy D. Becker, MD, Pittsburgh, Pa.)

Figure 17-24  Large cervical masses like this cervical teratoma diagnosed by antenatal ultrasonography cause prenatal esophageal compression and polyhydramnios. Because of the high risk of upper airway compression at delivery, an ex utero intrapartum treatment (EXIT) procedure is indicated to avoid infant death.

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A

651

B Figure 17-25  A, Cervical teratoma at delivery presents airway challenges (B) in the perinatal period.

symptoms including cough, dysphagia, dyspnea, and rarely, superior vena cava syndrome. The mediastinal location and the patient’s age provide the most critical insight into the diagnosis. The mediastinum may be divided into three major compartments: anterior–superior, middle, and posterior. The location of a mass in any one of these compartments is an important diagnostic feature (Table 17-2). The anatomic boundaries for these compartments include the sternum to the anterior aspect of the trachea and pericardium (anterior); the trachea, major bronchi, and paratracheal structures (middle); and the posterior aspect of the trachea to the spine (posterior). Anterior mediastinal masses typically arise in tissues of thyroid or thymus, and are lymphoid or teratomatous in origin (Fig. 17-27). Middle mediastinal masses are typically tumors or congenital anomalies arising from the tracheobronchial tree, lymph nodes, esophagus, or pulmonary parenchyma. Posterior mediastinal masses are primarily neurogenic tumors or congenital enterogenous lesions (Fig. 17-28). Esophageal atresia with or without tracheoesophageal fistula is a common cause of airway obstruction. The inability to pass a Replogle (nasogastric) tube into the stomach clarifies this diagnosis. This tube also serves as a sump catheter to drain the proximal pouch and to limit upper airway contamination associated with this anomaly. Infants develop respiratory distress secondary to esophageal obstruction and the tracheoesophageal communication. Neonates with esophageal atresia characteristically have excessive salivation and coughing due to the pooling of secretions in the proximal pharyngeal pouch. Most patients are diagnosed by their inability to tolerate their initial feedings. The diagnosis of congenital esophageal obstruction secondary to esophageal atresia is frequently made on antenatal ultrasonography by the presence of

microgastria, polyhydramnios, and frequent fetal hiccups. Although several major variants of this condition exist, the most common, a blind proximal pouch with a distal tracheoesophageal fistula, occurs in approximately 85% of all patients. Inspired air from the trachea communicates directly to the stomach via a fistulous connection (Fig. 17-29). This leads to gastric distention and retrograde gastroesophageal reflux into the lungs, precipitating respiratory distress. Positive-pressure ventilation by either mask or endotracheal tube should be avoided in these patients before surgery because of the risk of gastric distention and perforation, severe retrograde reflux, and pneumonia (Fig. 17-30). The second most common variant of this condition is pure esophageal atresia, which on plain radiography shows a dilated proximal pouch and a gasless abdomen (Fig. 17-31). On physical examination these infants have a scaphoid abdomen due to the lack of distal air passage into the bowels (Fig. 17-32). Isolated tracheoesophageal fistula without esophageal atresia is the third most common form of this anomaly. These children lack esophageal obstruction and may at times be diagnosed at later ages with symptoms of persistent cough or recurrent pneumonia. Although called an H-fistula, the appearance is more N-shaped with a more proximal communication with the trachea and distal communication into the esophagus. The diagnosis of this variant is made more challenging because of this acute angle of communication between the esophagus and trachea, which inhibits reflux of orogastric contents into the airway (Fig. 17-33). Congenital diaphragmatic hernia is a common cause of respiratory distress in newborns, occurring with an incidence of approximately 1 in every 4000 live births. Defects in the diaphragm may result either from abnormal fusion of the posterolateral pleuroperitoneal membrane (foramen of Bochdalek) or from defects in formation of the central diaphragmatic muscle (foramen of Morgagni hernia). Diffuse muscular weakness may give rise to diaphragmatic eventration

Table 17-2

Figure 17-26  Ex utero intrapartum treatment (EXIT) procedure.

Mediastinal Masses in Childhood

Anterior–Superior

Middle

Posterior

Teratoma including dermoid cyst Normal thymus Lymphoma Vascular malformation Thymic cyst Cystic hygroma Intrathoracic goiter

Bronchogenic cyst Pericardial cyst

Neurogenic tumor Enterogenous cyst Pulmonary sequestration

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B

A

Figure 17-27  A, A large mediastinal thymic tumor seen on chest radiograph may induce dyspnea, orthopnea, and other pulmonary symptoms. B, CT scan demonstrating the anterior mediastinal thymic tumor.

or postcardiac surgical or birth injury to the phrenic nerve. Congenital diaphragmatic abnormalities of the foramen of Bochdalek are the most common form of lesion and are typically left sided in 85% of patients (Fig. 17-34). These defects occur early in gestation, allowing abdominal contents to herniate into the chest. This limits lung expansion and growth, displacing the heart, resulting in pulmonary hypoplasia and persistent pulmonary hypertension. Many of these infants have severe respiratory distress occurring shortly after umbilical cord division. On physical examination there is marked nasal flaring, chest wall asymmetry (larger contralateral hemithorax secondary to lung hyperplasia), displaced heart tones to the side opposite the hernia, and ipsilateral absence of breath sounds with dullness to percussion due to the presence of abdominal viscera in that hemithorax. Plain chest radiography demonstrates intestinal loops within the hemithorax displacing the cardiomediastinal silhouette to the opposite side. Infants with foramen of Bochdalek congenital diaphragmatic hernias have severe respiratory failure secondary to both pulmonary hypoplasia and pulmonary hypertension. Despite aggressive therapy with nitric oxide, high-frequency

oscillatory ventilation, and extracorporeal membrane oxygenation (ECMO), mortality remains approximately 50% (Fig. 17-35). Diaphragmatic eventration may have a radiographic appearance similar to that of diaphragmatic hernia but usually lacks acute neonatal presentation. Foramen of Morgagni diaphragmatic hernias represent less than 5% of all diaphragmatic hernias. Often they are incidental findings seen on routine radiography obtained for other reasons (typically a cough). Morgagni hernias typically have a sac, which may include the transverse colon, liver, or small bowel (Fig. 17-36). Intestinal incarceration is a rare complication. Cystic pulmonary adenomatoid malformations may be confused with diaphragmatic hernia on plain films and are usually distinguished by the location of the gastric air bubble (Fig. 17-37). Vascular ring anomalies may be a source of tracheoesophageal compression giving rise to varying degrees of dyspnea or dysphagia. These anomalies originate from persistence of the embryonic aortic arches. Plain film findings demonstrating narrowing of the mediastinal portion of the tracheal air contour suggest the presence of a vascular ring. The diagnosis may be

Left thoracoscopic view

Aorta

Lung Esophageal duplication cyst

Figure 17-28  Posterior mediastinal masses include esophageal duplication (illustrated here during left thoracoscopy), neurenteric cysts, extralobar sequestration, anterior myelomeningocele, and neural tumors. Vertebral anomalies coexist frequently.

Figure 17-29  Bronchoscopy visualizes a tracheoesophageal fistula, seen as a posteriorly positioned orifice (bottom) in the upper trachea. The carina, seen toward the top of the picture, lies distally.

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Figure 17-32  Pure esophageal atresia without distal tracheoesophageal fistula. Esophageal obstruction associated with scaphoid abdomen on physical examination is pathognomonic of pure esophageal atresia.

Figure 17-30  Tracheoesophageal fistula allows air to be forced into the stomach during positive-pressure ventilation by bag and mask or through an endotracheal tube. The stomach may perforate as shown in this patient with a pneumoperitoneum, or ventilation may become suddenly ineffective if a gastrotomy is placed initially during surgical repair.

confirmed by nuclear magnetic resonance imaging (MRI), contrast barium swallow, or endoscopic evaluation of the airway. MRI has replaced aortography for delineating the associated vascular anatomy (Fig. 17-38).

Lung Lung Bud Anomalies (Bronchopulmonary Foregut Malformations) Lung bud anomalies (bronchopulmonary foregut malformations) are cystic lung lesions that may induce severe respiratory distress by direct compression of adjacent normal lung tissue. Acute expansion, which may often occur at the time of delivery, may require emergency surgical intervention or the use of high-frequency oscillatory ventilation. This ventilation technique serves as a temporizing means as the infant is prepared for surgery. Congenital cystic anomalies of the lung are the most common cause of respiratory distress in infants and children requiring surgical intervention. These bronchopulmonary foregut malformations have their origin during the early stages of fetal development, between the 3rd and 16th

weeks of gestation. Thus, many of these lesions may be discovered on routine prenatal ultrasound. Progressive enlargement during the first few months of life may lead to acute respiratory distress secondary to compression of normal lung tissue. Smaller or more slowly growing lesions may have a paucity of symptoms. They may go undetected for long periods, before diagnosis by routine chest radiography for infection, dyspnea, or tachypnea. In otherwise normal infants, persistent cough, recurrent bouts of pneumonia, and paroxysmal dyspnea should prompt the primary care practitioner to investigate the diagnostic possibility of an occult congenital cystic lung lesion by plain chest radiography or CT. Four major bronchopulmonary foregut malformations exist: congenital lobar emphysema (CLE), congenital pulmonary adenomatoid malformation (CPAM), pulmonary sequestration, and bronchogenic cyst. The most common of these, CPAM, results from the proliferation of primordial bronchial structures in the absence of alveoli. CPAMs are subclassified as one of three variants on the basis of their size, shape, and pathologic appearance. Type I CPAM comprises single or multiple cysts greater than 2 cm in diameter and lined with ciliated pseudostratified columnar epithelium. Type I lesions may be difficult to distinguish from diaphragmatic hernias (Fig. 17-39). Type II lesions are small cysts, less than 1 cm in diameter, and lined with cuboidal to columnar epithelium. These lesions are associated with a broad spectrum of congenital anomalies. Type III CPAMs are large benign cysts lined with ciliated cuboidal epithelium or solid masses. These are often fatal and have a high incidence of associated anomalies. Congenital lobar emphysema is a condition that results from a segment of poorly developed or absent cartilage in the

Figure 17-31  A dilated blind proximal esophageal pouch (A) and a gasless abdomen (B) are the radiographic hallmarks of pure esophageal atresia.

A

B

Figure 17-33  Isolated tracheoesophageal fistula (H-type) as seen here is typically accessed via a cervical approach. The patient’s chin is to the left. Blue loops are around the esophagus with the fistula seen as a tubular structure immediately to the left of the esophagus.

Figure 17-34  Congenital diaphragmatic hernia allows intestines to enter the chest in utero.

Figure 17-35  Autopsy specimen of a diaphragmatic hernia illustrates the right lung compression, cardiomediastinal shift, left lung hypoplasia, and visceral herniation through the diaphragmatic defect.

Figure 17-37  Macrocystic adenomatoid malformation of the left lung. Large cystic lesions can be mistaken for bowel loops herniating through a diaphragmatic hernia.

Figure 17-36  A foramen of Morgagni hernia, seen here by laparoscopy as a central tendinous defect in the diaphragm, typically does not present as acute pulmonary distress in the newborn.

Figure 17-38  Posterior view of a three-dimensional reconstruction of an axial MRI scan of a right aortic arch with an anomalous left subclavian artery. Note the close proximity of the anomalous subclavian artery to the esophagus and its potential obstruction of the esophagus. ES, esophagus (yellow); DAo, descending aorta (red); DIV, diverticulum; LSCA and RSCA, left and right subclavian artery, respectively (red); RAA, right aortic arch (red); TR, trachea (white). (Courtesy Beverly Newman, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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B

C

A

Figure 17-39  Macrocystic adenomatoid malformation seen on plain film (A), CT scan (B), and surgical specimen (C).

tracheobronchial tree and leads to lung hyperexpansion secondary to a “check valve effect” and air trapping. Subsequent lung overdistention may lead to respiratory distress, pneumonia, and mediastinal shift. Many of these patients present with symptomatic lesions in the first few weeks of life; however, other patients have a more indolent progression of symptoms over the first 6 months of life. Other patients may remain entirely asymptomatic. The plain radiographic appearance of these patients demonstrates lung hyperlucency and hyperexpansion in the upper or middle lobes (Fig. 17-40). Acute cardiopulmonary decompensation may occur in otherwise healthy patients with this anomaly, due to positive-pressure ventilation such as that which might occur at the time of the induction of general anesthesia for surgery (Fig. 17-41).

Primary pulmonary blastoma is a stromal malignancy of the lung that may present with unilateral hyperinflation, mimicking and possibly confused with lobar emphysema (Fig. 17-42). Pulmonary sequestrations are accessory pulmonary parenchymal tissue that lack direct tracheobronchial communication. These anomalies receive their blood supply from the systemic circulation. They may arise from within the pulmonary parenchyma (intralobar) (Fig. 17-43) or reside separately from normal lung tissue (extralobar) (Fig. 17-44). Although commonly found in the left costophrenic sulcus, sequestrations may be located in either hemithorax or in the abdomen. They may also communicate with other foregut structures in the gastrointestinal tract owing to their shared embryonic origin. Usually asymptomatic and found on routine chest x-ray

Figure 17-40  Lobar emphysema, usually involving the upper lobes, may become hugely distended and may cause life-threatening respiratory distress.

Figure 17-41  Lobar emphysema may acutely expand with positive-pressure ventilation seen at the time of anesthesia induction. Hyperexpansion of the lobe is clearly apparent at thoracotomy, when lung parenchyma “balloons” into the field.

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A

B

C

D

Figure 17-42  A, Clinical examination of an infant with primary pulmonary blastoma with thoracic asymmetry and hyperinflation. B, Anteroposterior chest radiograph demonstrating the unilateral hyperinflation of the left lung and mediastinal shift to the right. C, CT scan of the chest showing the pulmonary hyperinflation and tumor mass. D, Intraoperative tumor.

or noted as an incidental finding during another thoracic procedure, these lesions may be a source of recurrent intrathoracic infection and should undergo elective resection. Duplex ultrasonography or, more commonly, CT or MRI evaluation may be used in the diagnostic assessment to demonstrate systemic arterial blood supply (Fig. 17-45). Pneumothorax may occur as a result of thoracic trauma, cystic fibrosis, or spontaneously (Fig. 17-46). Patients may develop acute severe pleuritic chest pain and associated dyspnea. Physical examination findings may demonstrate hyperresonance and diminished breath sounds over the ipsilateral hemithorax. Mediastinal shift, jugular venous distention, hypotension, and diaphragmatic flattening may result from the development of a tension pneumothorax. This requires emergency life-saving needle decompression followed by thoracostomy tube placement. A subpopulation of young patients, usually male and asthenic in build, may present with acute spontaneous pneumothorax. Spontaneous pneumothorax is typically secondary to apical bullous lung disease (Fig. 17-47). The etiology of this condition is unknown. These patients usually require chest decompression by thoracostomy tube placement. Recurrent episodes of spontaneous pneumothorax are an indication for surgical exploration with resection of the apical bullae and either mechanical or chemical pleurodesis.

On occasion, surgical intervention may be necessary in the treatment of pulmonary infections that persist despite aggressive antibiotic therapy (Fig. 17-48). The development of an intrathoracic empyema as a sequela of streptococcal or staphylococcal pneumonia may restrict lung expansion. Surgical intervention may provide the means of diagnosis and the ability to rule out bronchial foreign body obstruction (Fig. 17-49); the capacity to assess for evidence of malignancy; or allow treatment through providing adequate drainage or mechanical pleural clearance. In addition, surgery may provide a means of treatment of chest lesions that may have become secondarily infected (Fig. 17-50). Thoracoscopy with videoassisted thoracic decortication may hasten recovery from pneumonia and these parapneumonic consequences. More recent experience supports the use of chest tube drainage with instillation of fibrolytic therapy (urokinase or tissue plasminogen activator) in the treatment of pediatric empyema.

CHEST WALL Pectus excavatum (“funnel chest”) is the most common congenital chest wall deformity (Fig. 17-51). This condition is characterized by the posterior angulation of the sternum toward the spine and abnormalities of the costal cartilages. Pectus excavatum has a 3 : 1 male predominance. Although

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Figure 17-43  Persistent infiltration of the lung parenchyma may indicate an intralobar sequestration, shown here involving the right lower lobe. Also shown is a right diaphragmatic hernia, a frequently associated malformation.

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Figure 17-45  Extralobar sequestrations are characterized by the presence of pulmonary parenchyma that lacks tracheobronchial communication and has a systemic blood supply. Angiogram shows systemic blood supply. MRI has supplanted this technique.

Diaphragm Sequestered lobe

Artery to lobe from aorta Left lung

Diaphragm

Left extralobar pulmonary sequestration

A

B

Thoracoscopic excision of extralobar pulmonary sequestration

Removal pulmonary sequestration

C

Thoracoscopic excision extralobar pulmonary sequestration

Figure 17-44  Thoracoscopic view of an extralobar pulmonary sequestration (A). Thoracoscopic view shows the ligated vessels penetrating the posterior sulcus of the diaphragm (B). Resected extralobar sequestration removed through an enlarged port site (C).

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Figure 17-48  Chest film of a child with allergic bronchopulmonary aspergillosis of the right upper lobe, which ultimately required resection.

Figure 17-46  This chest film shows typical radiologic signs of tension pneumothorax: mediastinal shift, flattening of the diaphragm, and widening of the intercostal spaces.

often not impressive during infancy, this deformity increases during childhood and adolescence. This chest wall malformation typically causes no cardiopulmonary symptoms or disability. However, there is a subset of patients who will have exercise intolerance, mitral valve prolapse, or gastroesophageal reflux that may be attributable to this deformity. Some debate exists as to the relationship of these symptoms to the defect. Although the psychological implications of this deformity in teenagers relative to their self-esteem may seem to be a more compelling indication for surgical repair, there is evidence that in active patients, improved stamina is achieved after repair of severe pectus excavatum chest wall deformities. A minimally invasive technique, the Nuss procedure, has

made the repair of pectus excavatum more appealing to many patients and their families. Pectus carinatum (“pigeon chest”) is a protrusion deformity of the chest wall (Fig. 17-52). This condition represents a spectrum of sternal and midchest anomalies that may give rise to this malformation. Pectus carinatum occurs more commonly in males than females and is usually asymptomatic. Surgical correction of carinatum deformities has been replaced almost completely by nonsurgical chest bracing or compression devices, which are custom fitted and worn by patients for various time periods. Marfan syndrome must be considered in pectus carinatum or pectus excavatum deformities. The coexistence of other conditions such as aortic root abnormalities and ocular lens subluxation should be evaluated in these patients. Poland syndrome is a rare chest wall deformity that consists of a constellation of abnormalities including unilateral agenesis or dysplasia of the rib cage and chondral cartilages, absence of pectoralis major and minor muscles, hand deformities, and breast and areolar defects (Fig. 17-53). Other chest wall deformities include sternal cleft and pentalogy of Cantrell, discussed later (see Abdominal Wall Defects). Ectopia cordis is often complicated by the presence of severe congenital heart disease.

Axilla Axillary lesions are most often lymphatic in origin. Benign reactive lymphadenopathy secondary to viral or bacterial infections is the most common neck mass. Cystic hygromas or lymphangiomas, also common in the lateral neck, may frequently appear in the axilla. These lesions may exist in continuity with cervical lesions or, more importantly, extend into the mediastinum. Plain chest films or CT scan imaging (preferred) may aid in delineating the anatomy. Hidradenitis, a condition related to the obstruction of sebaceous and sweat glands, commonly presents as an axillary mass that may become superinfected and require surgical drainage.

Breast

Figure 17-47  Thoracoscopic view of apical bullous lung disease. These bullae or blebs may rupture and give rise to spontaneous pneumothorax.

Mastitis is a common breast problem of infancy. The evolution of fluctuance or purulence is diagnostic of a breast abscess (see Chapter 12). The presence of this condition requires aggressive antibiotic therapy (sometimes intravenous) and warm compresses. Antibiotics with broad staphylococcal and streptococcal coverage are usually adequate; however, in some cases the addition of gram-negative coverage is necessary.

A

B

Figure 17-49  Signs of a radiolucent foreign body are often subtle. Persistent overdistention of the right lung during expiration (A) was due to right mainstem bronchial occlusion. Less marked changes are seen during inhalation (B).

A

B

D

C

Figure 17-50  Large infected bronchogenic cyst in a teenager (A) who responded to aggressive antibiotic therapy (B and C), and surgical resection (D).

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Figure 17-53  Congenital unilateral absence of the anterior ribs, muscle, and soft tissues characterize Poland syndrome, producing its typical appearance  pictured here.

Figure 17-51  Pectus excavatum (funnel chest) seldom creates cardiorespiratory symptoms, but psychological consequences may be severe.

A

Restraint relative to invasive procedures, particularly incision, drainage, and debridement, should be maintained to allow spontaneous resolution with medical therapies. Damage to the breast bud may lead to permanent breast asymmetry and deformity in the future. Needle aspiration may be judiciously performed when there is significant concern about the possibility of pus. True abscess formation requires incision and drainage, and families should be warned of the potential longterm ramifications. Localized breast masses in children are typically benign. In the preadolescent, as early as 6 or 7 years, the development of a firm mobile mass under one areola or both areolae may represent precocious thelarche. This condition may be asynchronous with a pseudotumor appearing several months ahead of the opposite side. Biopsy is never indicated in this scenario because unilateral iatrogenic amastia will result. In adolescents and teenagers, fibroadenomas account for approximately 90% of the reported masses. These smooth and mobile masses are approximately 1 to 2 cm in size. The juvenile variant of this condition may be associated with much larger lesions that cause significant breast asymmetry. The malignant potential of these lesions is low; however, excision is strongly recommended because these lesions do not spontaneously regress. Cosmetic periareolar incisions should be used to excise these tumors. Fibrocystic disease, occurring primarily in older teens and young women, is a breast condition associated with one or more firm, fixed, and ill-defined masses. These masses result from hyperplasia of the fibrous parenchymal tissue of the breast. Variation in the associated symptoms and even the size of these lesions with the phases of the menstrual cycle is a distinctive feature of fibrocystic disease, which is a benign condition. Breast malignancies are rare in the pediatric population. Phyllodes tumors, formerly cystosarcoma phyllodes, are rare fibroepithelial tumors that may be benign but with aggressive local behavior leading to malignancy with a propensity for distant metastases. These tumors may be associated with significant asymmetrical gynecomastia and reach up to 40 cm in size. Surgical evaluation should be sought out early. Routine monthly breast self-examination should be encouraged at puberty in all girls to aid in the detection of significant disease and to avoid undue intervention for benign conditions.

GASTROINTESTINAL B Figure 17-52  A, The sternum projects like a keel in front of the anterior chest wall in pectus carinatum (pigeon chest). Like pectus excavatum, pectus carinatum produces no symptoms. B, Lateral view of a pectus carinatum.

Gastrointestinal Obstruction Vomiting is the reflex-coordinated response of various stimuli to the central nervous system, resulting in relaxation of the lower esophageal sphincter, increased gastric peristalsis,



increased diaphragmatic contractions, and forceful expulsion of gastrointestinal contents. Vomiting is the primary presenting symptom of children with a wide range of conditions from benign responses to minor infectious diseases to the primary manifestation of life-threatening intraabdominal disease. Although the vast majority of children who have this complaint do not have an obstructive lesion, vomiting is the principal symptom of major gastrointestinal obstructive diseases. Distinguishing between self-limited or medical conditions and those that require urgent surgical intervention may be challenging. The first stage in the assessment is the differentiation of vomiting and regurgitation. Vomiting is the forceful expulsion of gastrointestinal contents, whereas regurgitation is the passive expulsion of enteric contents. The surgical causes of vomiting are typically extrinsic (serosal) inflammatory conditions or intrinsic (mucosal/structural) mechanical lesions. Diagnosis and management are best defined by the patient’s age and level of gastrointestinal obstruction. Vomiting associated with fever, abdominal pain, and abdominal tenderness is highly suggestive of peritoneal irritation seen in conditions such as appendicitis. The presence of bilious emesis with or without abdominal distention should raise concern for a mechanical obstruction. Bilious emesis is a critical finding in the pediatric population. Its presence should always raise a red flag in the evaluation of a vomiting child, especially the newborn or infant. The principal condition of concern is malrotation with midgut volvulus. This typically presents without abdominal distention because the level of obstruction is at or near the ligament of Treitz. Bilious emesis with associated abdominal distention is more characteristic of distal small bowel or colonic obstruction seen in conditions such as intestinal atresias, meconium disease, incarcerated hernias, or Hirschsprung disease. The presence of blood in the stool suggests an associated ischemic process as seen in midgut volvulus, necrotizing enterocolitis (NEC), internal hernia, or intussusception. Finally, the infant or child with a previous history of abdominal surgery, abdominal surgical scars, or abdominal trauma should be suspected of having adhesive small bowel obstruction. Radiographic evaluation including AP and left lateral decubitus films of the abdomen is often sufficient to generate an adequate differential diagnosis. These studies help identify the presence of dilated bowel loops and/or intraperitoneal free air. In neonates, several common obstructive lesions such as esophageal atresia, pyloric atresia, and duodenal atresia may show no distention. Adjunctive techniques of gastric tube placement and air instillation may provide an air-contrast upper gastrointestinal study in infants with proximal obstructions in whom water-soluble or barium contrast instillation could be hazardous or are contraindicated because of aspiration risks. Upper gastrointestinal contrast evaluation is indicated to rule out malrotation with midgut volvulus in those patients in whom the suspected level of obstruction is in the mid-duodenum or more distal. The presence of scattered abdominal calcifications in the newborn or a calcified pseudocyst indicates in utero bowel perforation and meconium peritonitis (Fig. 17-54). Distal gastrointestinal obstructions in the newborn period are most indicative of Hirschsprung disease. Before rectal manipulation or examination, these children should undergo a contrast enema. Barium is the preferred contrast medium because of its greater density and improved retention. This is useful for delineating the transition zone on the initial images and retention of material on the postevacuation films. If the transition zone—the region of the bowel where there is a caliber change between proximally dilated and distally decompressed bowel—is not visualized, then consideration should

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Figure 17-54  Calcification in an area of meconium peritonitis in the right iliac fossa.

be given to other conditions such as distal ileal atresia, small left colon syndrome, or meconium ileus. Water-soluble contrast may be useful in the latter two conditions by loosening the intraluminal concretions associated with these entities. Meconium ileus is characterized by distal ileal narrowing and obstruction in association with inspissated meconium plugs (“rabbit pellets”) and thick putty-like meconium in the more proximal ileum or bowel (Fig. 17-55). Contrast enema may be both diagnostic and therapeutic. Delayed abdominal radiographs in patients suspected of distal bowel obstructions may provide evidence for Hirschsprung disease (particularly at 24 hours postevacuation). The various causes of gastrointestinal obstruction requiring surgery are organized by age and the level of obstruction. These have been subdivided into two age categories: neonates

Figure 17-55  This plain film shows two signs indicative of meconium ileus: a “soap bubble” mass in the right iliac fossa, produced by the impacted meconium, and distended loops of different diameters, reflecting the gradual distention of the small bowel to the area of obstruction.

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Nonbilious Emesis The most common cause of nonbilious emesis in neonates and infants is overfeeding. Gastroesophageal reflux is the second most common cause of vomiting in this group. This condition is associated with the immaturity of the lower esophageal sphincter mechanisms and delayed motility of the gastrointestinal tract. Age-related maturation of these sites leads to complete resolution of this process by 1 year of age in most children. Behaviors related to feeding including overfeeding, too-rapid feeding, inadequate burping, and infant overstimulation may exacerbate the symptoms. Some patients develop reflux complications related to esophageal or extraesophageal symptoms. These symptoms include pain, bleeding, dysphagia, and failure to thrive secondary to esophagitis. Recurrent pneumonias, otitis media, hoarseness, respiratory distress, and apneic spells may also be related to reflux. Several studies are useful for diagnostic confirmation. Barium swallow with upper gastrointestinal series is quite useful for delineating the anatomy of the esophagus and stomach. It demonstrates pyloric stenosis, malrotation, and the presence of any webs, membranes, or stenoses in these structures. Although this study may show evidence of reflux, it is not a reliable means for the primary diagnosis of reflux (Fig. 17-56). The best methods for diagnosing reflux are esophageal pH probe testing or esophagoscopy with mucosal biopsy. Esophageal pH probe testing is usually performed as an overnight study with a nasoesophageal probe and monitor, which records the frequency and duration of reflux episodes. Distal esophageal mucosal biopsy may represent a more precise diagnostic criterion for clinically significant reflux and may better stratify those patients who would benefit from more aggressive therapies. Liquidphase gastric radionuclide scintigraphy (“milk scan”) may provide evidence of reflux; signal over the lung fields; and

quantitative evidence of gastric emptying, an important factor in reflux (see Chapter 16). Nonoperative and medical strategies are most often adequate to treat patients with reflux. Surgery is reserved primarily for those medically refractory patients with severe complications of reflux disease. The principal strategy of surgery is to strengthen the lower esophageal sphincter mechanism and to repair other associated pathologies that precipitate reflux including hiatal hernia, pylorospasm, and delayed gastric emptying. Laparoscopic fundoplication is the operation of choice and is highly effective at eliminating reflux. The principal side effects are the decreased ability to vomit and a tendency toward the development of postprandial gastric bloating if feedings are initiated too rapidly in the postoperative period. Hypertrophic pyloric stenosis is a common surgical condition of the newborn period, with an incidence of approximately 1 in every 300 live births in the United States. The etiology is largely unknown. A genetic component to this disease, which occurs rarely in Asians relative to Western European populations, is apparent. Furthermore, approximately 20% of affected male infants and 7% of affected female infants have a relative with pyloric stenosis. Vomiting typically begins during the first or second week of life and becomes progressively projectile. Many babies brought to medical attention have undergone changes in formula because of concerns that their emesis is formula related. Infants often present during the third week of life for surgical evaluation; however, the time of presentation may range from 1 week to 4 months of age. Physical examination findings show evidence of a distended abdomen. Peristalsis of the distended stomach may be visible (Fig. 17-57). The lesion itself is usually palpable in the epigastrium, between the midline and the right midclavicular line, and has the consistency of a small olive. An adequate examination requires a calm infant. Various maneuvers to relax the infant’s abdominal musculature assist the physical examination. In the absence of a palpable “olive” on two serial examinations by an experienced examiner, the infant should undergo an abdominal ultrasound or upper gastrointestinal series (Fig. 17-58). The presence of a palpable olive requires no further imaging studies before surgery. The infant needs to be adequately hydrated and have any electrolyte abnormalities corrected before going to the operating room (Fig. 17-59).

Figure 17-56  Fluoroscopic examination of the infant during barium swallow must be of sufficient duration to allow the identification of episodes of reflux (here associated with aspiration into the tracheobronchial tree).

Figure 17-57  Pyloric stenosis may cause epigastric distention by the obstructed stomach. This patient also demonstrates a visible wave of peristalsis, which moves from left to right.

and infants to cover the first year of life and toddlers and older children. Neonates and Infants A systematic manner by which to subdivide the causes of vomiting is to categorize those with etiologies involving the proximal gastrointestinal tract and those involving the distal gastrointestinal tract.

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A

B Figure 17-58  Hypertrophic pyloric stenosis. A, Ultrasonographic scan of the upper abdomen demonstrates the thickened pyloric muscle, indicated by the cursors. B, Barium study of the stomach (right) shows thin streaks of barium in the pyloric canal. The hypertrophic pyloric muscle bulged into the gastric antrum produces a “reversed 3” configuration.

Bilious Vomiting without Abdominal Distention Malrotation is the failure of the midgut (small bowel, right colon, and one third of the transverse colon) to undergo adequate rotation and retroperitoneal fixation during embryonic development. Consequently, the bowel resides on a narrow pedicle (superior mesenteric artery) that is prone to undergo twisting and subsequent volvulus formation. The resulting proximal intestinal obstruction usually occurs in the distal duodenum or proximal jejunum, presenting as bilious emesis. Abdominal distention may not be a component of the early presentation because of the location of the obstruction at the ligament of Treitz and the decompressive nature of the vomiting. The resulting superior mesenteric artery obstruction leads to midgut ischemia and subsequent infarction, if no surgical intervention occurs. Bloody rectal discharge and hematemesis may also occur as the ischemia time increases. Signs of intestinal necrosis may rapidly manifest as abdominal wall edema, cellulitis, distention, and crepitus. Severe short bowel syndrome or death may occur from delayed recognition, diagnosis, and treatment of this important pediatric condition. Although most patients who present with bilious emesis do not have malrotation with volvulus, the ramifications of

A

diagnostic delay mandate the prompt evaluation of infants who develop these symptoms (Fig. 17-60). Plain radiographs demonstrating gastric distention and duodenal dilatation in the setting of an otherwise nearly “gasless abdomen” should raise suspicions for this condition. The cornerstone of diagnosis is the upper gastrointestinal series, which identifies the contour of the duodenal sweep or C-loop, the location of the ligament of Treitz, and the unobstructed flow of contrast into the jejunum. The most critical of these is the position of the ligament of Treitz, which should be positioned to the left of midline on the AP view and above the level of the pylorus on the oblique view. An abnormally configured duodenal C-loop or a corkscrew appearance to the duodenum with small bowel loops positioned in the right side of the abdomen is diagnostic of disease (Fig. 17-61). Other findings on the upper gastrointestinal series, such as duodenal dilatation, imply obstruction from volvulus or Ladd bands (Fig. 17-62). Barium enema may demonstrate an abnormally placed cecum in the left upper abdomen; it is not an effective diagnostic tool in the acute setting. Duodenal atresia and duodenal anomalies are important diagnostic considerations in the patient who presents with bilious emesis. Vomiting may occur shortly after birth or at a

B

Figure 17-59  Laparoscopic view of pyloric stenosis viewing the hypertrophied pylorus (A) and pyloromyotomy, demonstrating the serosal incision (B).

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A

B

Figure 17-60  Malrotation with midgut volvulus without ischemia (A). Malrotation predisposes to volvulus and complete midgut infarction (B).

later time in the setting of annular pancreas, duodenal stenosis, and duodenal webs. Duodenal atresia is associated with Down syndrome and congenital heart disease in about 30% to 50% of patients. The radiographic appearance of a “double bubble” sign in the newborn is pathognomonic of duodenal obstruction, usually secondary to duodenal atresia (Fig. 17-63). Malrotation without volvulus may be a source of bilious emesis secondary to Ladd bands (lateral peritoneal duodenal attachments), which may partially obstruct the duodenum. Bilious Vomiting with Abdominal Distention Small bowel and colonic atresias are the sequelae of intrauterine vascular accidents. These are often late gestational events, and meconium may be present in the bowel distal to the atresia. Therefore early postnatal meconium passage does not

rule out a coexisting atresia. Proximal intestinal atresias are associated with abdominal distention with only a few dilated bowel loops on plain film (Fig. 17-64), whereas distal ileal and colonic atresias are characterized as having multiple dilated bowel loops (Fig. 17-65). The presence of a proximal bowel obstruction in the neonatal period requires no other diagnostic imaging studies before definitive surgery. Contrast studies are critical to differentiate ileal atresia from various other distal obstructions including Hirschsprung disease, meconium ileus, and small left colon syndrome. Jejunoileal (small bowel) atresias are often isolated conditions, although they may be associated with gastroschisis and meconium disease. The major anatomic variants are subdivided on the basis of whether the bowel and its mesentery are intact. The “Christmas tree” or “apple peel” deformity (type IIIb), named for the spiral appearance of the distal bowel

Figure 17-61  The ligament of Treitz in malrotation is either absent or abnormally located, and the duodenum and small intestine lie on the right side of the abdomen. Duodenal obstruction may be partial (caused by Ladd bands, as seen here) or complete (caused by volvulus).

Figure 17-62  Complete duodenal obstruction from midgut volvulus. Air in the distal gastrointestinal tract fails to rule out complete obstruction from volvulus and distinguishes the diagnosis from duodenal atresia.



Figure 17-63  Swallowed air distends the stomach and proximal duodenum in duodenal atresia, producing the characteristic “double bubble” on plain film. Other contrast studies are unnecessary.

around the ileocolic or right colic artery, may result in significant bowel loss (Fig. 17-66). Similarly, multiple atresias or the “string of sausages” defect (type IV) may involve an extensive amount of the jejunoileum, leaving little functional mucosal absorptive area. These two conditions put most infants at significant risk of developing short bowel syndrome and longterm, if not permanent, total parenteral nutrition (TPN) dependence. Meconium disease is the initial presentation of cystic fibrosis in up to 20% of children. The thick viscous meconium in the distal bowel precipitates intraluminal intestinal

Figure 17-64  Jejunal atresia distends only a few bowel loops proximally, distinguishing it from duodenal and ileal atresia.

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Figure 17-65  Many intestinal loops become distended in patients with ileal atresia (pictured here), making the distinction between this diagnosis and other causes of distal bowel obstruction difficult. Other signs (such as intraperitoneal calcification, indicating meconium peritonitis) and contrast enema are necessary to identify the cause of obstruction.

obstruction. The distal ileum is small, and a microcolon is usually present. Marked proximal jejunoileal dilatation occurs, and the abdomen presents a “soap bubble” appearance on plain radiography (Fig. 17-67). Air–fluid levels are uncommon in this form of intestinal obstruction because of the dense concentration of meconium in the intestinal loops. Contrast enema reveals the presence of a microcolon and inspissated mucus or “rabbit pellets” in the distal ileum. Reflux of contrast proximal to these pellets into dilated bowel may be therapeutic, inducing evacuation of the thick meconium and relief of the obstruction. On occasion, patients with meconium disease may develop an intestinal atresia, volvulus, or perforation with varying amounts of meconium peritonitis. These conditions are referred to as complicated meconium ileus and, unlike simple meconium ileus, they always require surgical intervention (Fig. 17-68). Evidence of complicated meconium ileus may be made on prenatal diagnosis or neonatal plain films by

Figure 17-66  “Christmas tree” deformity results in proximal jejunoileal atresia secondary to an absent superior mesenteric artery beyond the middle colic branch. The helical appearance of the bowel around the remaining colic vessels gives the characteristic appearance.

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Transition zone

Figure 17-69  The absence of intramural ganglion cells prevents intestinal peristalsis through segments affected by Hirschsprung disease, causing a functional bowel obstruction. The involved segment appears narrow when compared with the distended, obstructed proximal bowel, which possesses normal ganglion cells.

Figure 17-67  Meconium ileus presents as a distal small bowel obstruction in the newborn with few air-filled dilated loops due to the meconium-filled bowel loops.

the presence of peritoneal calcifications and ascites. Unsuccessful attempts at contrast reduction of meconium ileus should raise concern for an associated ileal atresia. Hirschsprung disease, the absence of ganglion cells in the distal rectum, is a common cause of bilious emesis and abdominal distention. Although the classic presentation is that of failure to pass meconium, distal rectal obstruction may also induce vomiting. Plain radiographs of the abdomen in most patients demonstrate marked bowel dilatation. Barium enema studies show proximally dilated bowel (normal) and a nondilated segment (transition zone) juxtaposed to a distal decompressed segment of rectum (Fig. 17-69). A barium study, as outlined earlier, should precede rectal manipulation or enemas, as they may distort the radiographic findings typical of the transition zone and confuse the diagnosis (Fig. 17-70). Suction rectal biopsy performed at the bedside without the need for anesthesia is diagnostic (Fig. 17-71). Some children escape diagnosis in the first few days or months of life but are plagued by chronic constipation requiring rectal stimulation to evacuate. They may develop chronic symptoms of abdominal distention, growth failure, and

Figure 17-68  Intense inflammation resulting from free meconium in the peritoneal cavity (meconium peritonitis) may produce visible erythema and edema over the abdominal wall.

constipation. These patients may also present with an acute life-threatening episode of Hirschsprung-related enterocolitis. These infants or young children develop severe explosive diarrhea, toxic megacolon, and systemic sepsis that may rapidly progress to death. Emergency laparotomy for bowel decompression is mandated. Therapeutic delays secondary to attempts to perform preoperative suction rectal biopsy should be avoided, because of the high attendant morbidity and mortality of this presentation. Older Infants and Children Age-specific considerations for the causes of vomiting should direct the diagnostic approaches for children beyond the neonatal and infancy period. Intussusception is a frequent cause of vomiting in toddlers from 6 months to 2 years of age. The etiology of this condition is idiopathic in the majority of children in this age group; however, the presence of a mechanical lead point is more common in older children. Lead points include Meckel diverticula, intestinal polyps, Burkitt or nonHodgkin lymphoma, intestinal duplication cysts, and seromuscular hematomas secondary to bleeding disorders such as

Figure 17-70  Barium enema outlines the transition zone between the contracted (aganglionic) rectosigmoid lying distal to the obstructed, but normally innervated, colon. To demonstrate this sign, the examination must be conducted in an unprepped patient who has undergone neither enemas nor digital rectal examination.

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A

B

C

D

667

Figure 17-71  Suction rectal biopsy is a bedside procedure (A) that provides a small fragment of tissue for pathologic evaluation for ganglion cells (B). A normal suction rectal biopsy with an acetylcholinesterase stain demonstrates a normal band of staining and no giant nerve fibers between the muscular layers (C). Higher power view of a biopsy from a patient with Hirschsprung disease shows darkly staining giant nerve fibers in the muscularis layer (acetylcholinesterase stain) (D). (C and D, Courtesy Paul S. Dickman, MD, and Dan Galvis, BS.)

hemophilia or Henoch-Schönlein purpura. Idiopathic intussusception occurs in the region of the distal ileum and ascending colon. The classic clinical presentation is that of an otherwise healthy infant who presents with paroxysmal bouts of severe colicky abdominal pain associated with drawing his or her legs to the chest, followed by a period of sedation or somnolence. The presentation of this disease may be variable, however. Some children present with unexplained lethargy or seizure-like episodes, causing practitioners to suspect and work up potential neurologic diagnoses such as brain tumors and meningitis. Vomiting or the passage of a bowel movement may be associated with relief of these episodes. The child then resumes his or her typical behavior until another episode occurs. Initially vomiting episodes are nonbilious and likely related to a reflex response mediated by central nervous system mechanisms related to mesenteric traction. As time progresses, the bowel obstruction becomes more complete and the vomiting episodes may become progressively more bilious in nature. Bowel ischemia is typically a late finding in these cases (Fig. 17-72). Most infants are so violently ill that they are brought to medical attention earlier in their course. Mucosal sloughing may occur in the setting of bowel ischemia, producing “currant jelly” stools (Fig. 17-73). Physical examination findings may be notable for a palpable “sausage-shaped” mass located in the right upper quadrant or epigastrium. Consequently, the right lower quadrant may be empty (Dance sign). The radiographic assessment of intussusception is initially performed with plain films, which in many instances are not helpful. An intussusceptum visualized as a soft tissue cutoff sign or meniscus in the upper or mid-abdomen is diagnostic

(Fig. 17-74). Newer techniques using abdominal ultrasonography may have greater sensitivity and specificity than plain radiography. Contrast enema with either barium or air (preferred) may be both diagnostic and therapeutic (Fig. 17-75). Successful reduction is indicated by the prompt and free passage of barium or air into dilated loops of small bowel proximal to the obstruction. The inability to achieve this objective is indicative of a persistent obstruction either secondary to an incompletely reduced intussusception or a second

Figure 17-72  The intestine invaginates into itself in intussusception. The ileum is pulled through the ileocecal valve into the colon, the most common pattern seen in infancy, pictured here.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 17-73  The intussusception—the invaginated portion of bowel—becomes congested and ischemic, leading to the passage of bloody stool mixed with mucus (currant jelly stool).

site of intussusception. These techniques have a low incidence of failure (5 cm) that persist for more than 2 to 4 weeks should undergo

Figure 17-92  Laparoscopic view of appendicitis. Note the inflamed, swollen appendix.

Figure 17-94  Perforated appendicitis with a large ring-enhancing abscess seen on CT scan.

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Figure 17-95  Findings at laparotomy in Crohn disease reveal petechiae over the serosa of the thickened small bowel, which has mesenteric “creeping fat.”

Figure 17-97  A large cystic ovarian tumor removed from a teenage girl with a slowly increasing abdominal girth.

ultrasonography-guided aspiration or laparoscopic fenestration because of their risk of undergoing torsion. Ovarian torsion classically presents with pain out of proportion to the physical examination findings, and typically these patients lack significant gastrointestinal symptoms. Other pelvic masses related to uterine congenital pathology may be a source of abdominal pain (see earlier discussion).

prostatic urethra, bulbar urethra, or bladder neck in males or above the hymen in girls. Meconium is passed with urine via the urethra in males (Fig. 17-101) or transvaginally in females (Fig. 17-102). A variant of high imperforate anus is a cloacal anomaly, which is a complex congenital anomaly in which the urethra, vagina, and rectum share a single perineal opening (Fig. 17-103). The third variant represents intermediate lesions that are partially within the levator ani complex (Fig. 17-104). The surgical management of these lesions is currently undergoing major re-evaluation. However, the classic approach to the care for patients with low lesions is a one-stage repair, or perineal anoplasty (Fig. 17-105). Patients with high and intermediate lesions classically undergo staged repairs with a primary colostomy at birth followed by a perineal pull-through at a later age. Several months after the pull-through they return for their colostomy closure. The prognosis for fecal continence is excellent in patients with low lesions. Because they partially extend into the levator, intermediate lesions also tend to have good outcomes. The prognosis for high lesions is more guarded due in part to the presence of associated congenital anomalies and the quality of the reconstruction (Fig. 17-106). Rectal prolapse is an uncommon condition that is most often idiopathic in children (Fig. 17-107). The peak incidence of idiopathic rectal prolapse occurs in the second year of life, often precipitated by episodes of diarrheal illnesses, efforts to toilet train, or severe constipation. This process responds spontaneously after the resolution of the acute illness or with dietary and medical manipulations to treat the constipation.

ANUS AND RECTUM Most congenital anorectal anomalies are clinically apparent at birth. Bilious emesis, poor feeding, abdominal distention, and delayed or absent passage of meconium may herald the presence of a distal obstruction. Imperforate anus is the general category assigned to these patients, and it may present as one of three principal anatomic groups. These rectal anomalies are classified on the basis of the position of the rectum and the levator ani muscle complex. Low imperforate anus is associated with the passage of the rectum through the levator ani, and a fistulous tract extends to the perineal region ending in the center of a ridge of tissue on the anus (“bucket handle” deformity) (Fig. 17-98) or anterior to these structures as a perineal fistula (Fig. 17-99). In male infants the fistula may travel in the median raphe of the scrotum, and the meconium may be seen as a string of white or black beads (Fig. 17-100). The prognosis is generally favorable for low lesions because they lie within the levator ani complex. In contrast, high lesions do not pass through the levator ani. A visible fistula does not exist. Most commonly the rectal fistula ends in the

A

B Figure 17-96  A, Simple follicular cysts may grow to very large sizes that may fill the cul-de-sac. B, Ovarian torsion.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 17-100  Low imperforate anus in a male infant. White mucus or black meconium may pass through a perineal fistula from a low imperforate anus into the scrotal raphe.

Figure 17-98  A spot of meconium is visible beneath a “bucket handle” bridge of skin in an infant with a low imperforate anus.

Nonidiopathic cases are often related to neurologic conditions or chronic diseases. Abnormalities in the development of the muscles of the pelvic floor or the innervation occur in patients with spina bifida and related spinal cord abnormalities. Refractory cases should be evaluated for chronic hookworm infestation with stool evaluations for ova and parasites, which may cause severe tenesmus and straining. Rectal polyps may precipitate prolapse by acting as a lead point for this form of rectal intussusception. Evaluation by contrast enema and sigmoidoscopy are important components of the assessment of children with recurrent episodes. Cystic fibrosis is another common cause of prolapse and should be evaluated in patients with this condition. Surgery is rarely indicated. Circumferential submucosal injections with concentrated dextrose functions as a sclerosant that prevents prolapse from recurring. Anorectal abscess is a common condition in the first 6 to 10 months of life. The lesions arise from infections of the submucosal crypt glands found along the dentate line. Significant fluctuance requires incision and drainage followed by warm soaks or sitz baths. Recurrent episodes of infection,

Figure 17-99  In male infants, white mucus or black meconium may extend through a low perineal fistula to the midline scrotal raphe to the level of the penis.

although rare, may give rise to a fistula-in-ano or chronically draining sinus (Fig. 17-108). Anal fistulectomy with debridement of the tract is usually curative. Minor degrees of incontinence may complicate this procedure. Chronic recurrent anal fistulas may indicate the presence of Crohn disease, chronic granulomatous disease, or immunodeficiency. Patients with a persistent or refractory condition should be thoroughly evaluated for these entities. Anal fissure, discussed previously as a cause of gastrointestinal bleeding, is common in young infants. Hemorrhoids are less common in children and typically respond to nonoperative maneuvers.

HEPATOBILIARY SYSTEM, PANCREAS, SPLEEN Less common causes of abdominal pain in childhood include symptomatic biliary tract disease related to gallstones or choledochal cyst. Children who have a history of hemoglobinopathy (sickle cell disease), chronic hemolysis (spherocytosis), or a strong family incidence of cholelithiasis and who develop colicky right upper quadrant discomfort, epigastric pain, unexplained jaundice, or pancreatitis should undergo ultrasound evaluation for the presence of cholecystitis, cholelithiasis, choledocholithiasis, and pancreatitis (Fig. 17-109). Choledochal cyst is a congenital condition, more common in young girls than boys, that typically presents around 4 years of age with fusiform to cystic dilatation of the common bile duct. Pain from common duct obstruction or acute pancreatitis may be the initial presenting symptom. Surgical excision of the abnormal common duct is indicated in the short term to prevent episodes of pancreatitis and over the long term to eliminate the risk of malignancy (Fig 17-110). Pancreatitis, most often secondary to idiopathic causes in children, may cause abdominal pain in children that may have surgical implications. Initial presentation with hyperamylasemia and hyperlipasemia may progress to the development of a midabdominal mass. These patients should be evaluated for the presence of a pancreatic pseudocyst. Many of these lesions resolve spontaneously and do not require surgical drainage. Pancreatic pseudocysts may also develop after traumatic pancreatic injury (Fig. 17-111). Diseases of the spleen requiring surgery include hemolytic diseases such as hereditary spherocytosis, hemolytic anemias, asplenism, and occasionally sickle cell disease. Anemia and splenomegaly leading to illness, transfusion requirement, or decreased ability to participate in normal activities of daily living may prompt laparoscopic splenectomy to avoid

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A

677

C

B

Figure 17-101  A, No visible external opening forms in high imperforate anus. Absence of the intergluteal cleft is also common, frequently associated with sacral agenesis. B, Meconium passes into the bladder or urethra through a rectal fistula and appears in the urine. C, Retrograde urethrography demonstrates the rectourethral fistula. Figure 17-102  A high imperforate anus communicates into the vagina. Meconium is passed through the vagina (A). Vaginoscopy reveals the fistula on the posterior wall of the vagina well above the hymen (B). A bicornuate uterus accompanies rectovaginal fistula in high lesions in girls.

A

Figure 17-103  Cloacal anomaly is the most complete expression of imperforate anus in girls, with urinary, genital, and intestinal tracts converging into a single cloacal channel that exists as the sole perineal opening.

B

Figure 17-104  An intermediate lesion passes partially through the levator ani but fails to approach the perineum as closely as low lesions.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 17-108  A punctum visible to the left of the anus with a lacrimal duct probe communicates to a crypt in the anal canal by a fistulous tract. Recurrent abscesses arise from a well-formed fistula like this one, an indication for fistulectomy. Figure 17-105  Anteriorly displaced anus partially within the anal sphincter complex.

complications of splenomegaly or hyperfunction. Preoperative vaccination for pneumococcal, meningococcal, and Haemophilus influenzae B organisms is standard. Postsplenectomy oral penicillin prophylaxis (usually until age 21 years) is recommended but controversial in order to avoid overwhelming postsplenectomy sepsis.

ABDOMINAL WALL DEFECTS

Figure 17-106  Bifid scrotum in an infant with imperforate anus is indicative of a high lesion and the likely presence of other anomalies.

Gastroschisis and omphalocele are the two principal congenital abdominal wall defects. Omphalocele arises as a consequence of the embryonic extrusion of the developing midgut from the coelomic cavity into the yolk sac to allow midgut elongation as the abdominal wall expands to accommodate the rapidly growing viscera. Resulting central defects in the medial and lateral wall folds and umbilical ring result in a central abdominal wall deformity. This defect is covered by a sac that has outer amniotic and inner peritoneal layers. The umbilical cord inserts into the sac. This midline defect may be of various sizes from so-called “umbilical cord hernias” to “giant omphaloceles” greater than 10 cm and may exist in the central, epigastric, and hypogastric regions (Figs. 17-112, 17-113, and 17-114). Coexisting anomalies of other midline structures including the heart, sternum, diaphragm, and

Figure 17-107  Although the cause of rectal prolapse is unknown in the majority of cases, all infants should be evaluated for cystic fibrosis.

Figure 17-109  Ultrasound examination of the right upper quadrant easily demonstrates stones within the gallbladder. An acoustic shadow extends beneath the stone.

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B

A Laparoscopic excision choledochal cyst Type 1

Type I choledochal cyst

C

Gallbladder

Duodenum

Figure 17-110  A, Magnetic resonance cholangiopancreatography of a choledochal cyst demonstrating a fusiform dilatation of the common bile duct. B, ERCP (endoscopic retrograde cholangiopancreatogram) of a choledochal cyst demonstrating the same irregular mass in the hilum of the liver. C, Laparoscopic view of an in situ choledochal cyst with fusiform dilation extending from the hilum to the ampulla. The duodenum is at the southwest corner of the photograph, the liver hilum is in the northwest corner, and the dilated cyst has the Endoloop suture around it.

bladder may occur in 30% to 50% of all patients. Chromosomal anomalies may also be common in this population. In contrast to omphalocele, gastroschisis is a defect of the right lateral abdominal wall. Although controversy exists as to the distinct etiology, most believe this deformity results from a vascular accident that leads to occlusion of the right umbilical vein with subsequent disruption of the end of the abdominal wall and mild evisceration. The defect is usually small in

Figure 17-111  Pancreatic pseudocysts in the pediatric population most commonly result from blunt traumatic injuries to the abdomen, as occurred in this patient with a handlebar injury.

term infants; however, large amounts of bowel may lie in the amniotic cavity. This anomaly occurs early in gestation, and the bowel is left in contact with the amniotic fluid, which produces an intense inflammatory response or “peel” (Fig. 17-115). This peel is believed to alter bowel motility in the postoperative period, leading to long delays in the return of bowel function. Recent efforts have focused on earlier delivery in the 32- to 34-week gestational age range in order to diminish these deleterious effects on bowel function. In contrast to omphalocele, gastroschisis is generally not associated with other congenital anomalies. Only 7% to 10% of patients have associated conditions, the most common of which are intestinal atresias. Ischemia due to in utero volvulus, malrotation, or incarceration through the narrow defect may lead to vascular compromise that causes an atresia (Fig. 17-116). The surgical management of these conditions is similar. In both conditions the goal is the safe primary closure of the defect without creating an abdominal compartment syndrome that leads to pulmonary embarrassment, renal insufficiency, intestinal ischemia, or necrotizing enterocolitis due to either the size of the defect or the rigidity of the bowel. Gastroschisis constitutes a surgical emergency because the exposed bowel may become desiccated or injured. Omphaloceles, which have a protective peritoneal covering, may be managed in a more elective manner. A staged closure must be performed in some patients; this may include placement of a prosthetic Silastic

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 17-112  A, A small omphalocele with the umbilical cord attached to the apex of the sac. B, Giant omphalocele containing liver, stomach, and bowel. Chromosomal and other anomalies, particularly cardiac, are common and should be evaluated in both conditions.

A

B

Figure 17-113  Pentalogy of Cantrell is a midline abdominal wall defect (epigastric omphalocele) (A) associated with anterior diaphragmatic defect, sternal cleft, ectopia cordis, and congenital heart disease (usually a ventricular septal defect) (B).

Figure 17-114  Cloacal exstrophy consists of an infraumbilical omphalocele with exstrophy of the bladder, in which the bladder is separated into halves by the exposed intestine. Both the proximal and distal loops have prolapsed, producing the “elephant trunk” appearance.

Figure 17-115  In gastroschisis the abdominal defect lies to the right of an intact umbilical cord without a sac, and the intestines are exposed to the amniotic fluid. An inflammatory “peel” develops, which may affect motility.

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Epigastric

Umbilical

Figure 17-116  In utero volvulus may complicate gastroschisis. Occurrence of this event early in gestation may lead to intestinal atresia. Extraintestinal anomalies are rare in gastroschisis.

silo with daily reductions (Fig. 17-117), and administration of topical desiccants such as silver sulfadiazine (Silvadene), povidone-iodine (Betadine), or merbromin (Mercurochrome). Placement of a prosthetic material such as Gore-Tex (W. L. Gore & Associates, Flagstaff, Ariz) or Surgisis (Cook Surgical, Bloomington, Ind) may provide coverage. These infants have significant postoperative delays in the return of intestinal function and require TPN support for survival.

Inguinal Femoral

Figure 17-118  Location of commonly found hernias involving the abdominal wall.

Umbilicus The most common condition of the abdominal wall is an umbilical hernia (Figs. 17-118 and 17-119). This results from the failed closure of the fascial ring during the first few years of life. After desiccation of the umbilical vessels and urachus and separation of the umbilical remnant in the first month of life, the umbilical ring typically undergoes closure in the next 2 to 3 years. In some patients this process never occurs. For unclear reasons there appears to be a strong familial and racial predilection for hernia development. This condition has been described as being up to 50 times more common in African Americans than in white populations. Because most of these lesions resolve spontaneously, repair is typically deferred until the fifth birthday. Patients with hernias that are larger than 2 cm in diameter, have a proboscoid or “elephant’s trunk” appearance (usually due to a supraumbilical component) (Fig. 17-120), or have a history of incarceration should not have their surgery delayed.

Figure 17-119  Most infants with umbilical hernia undergo spontaneous closure by age 3 to 4 years. Those that persist require repair.

Figure 17-120  Supraumbilical hernia, shown here as a crescent-shaped defect above an umbilical hernia, does not close spontaneously and requires repair. Figure 17-117  Large abdominal wall defects that cannot be closed primarily may undergo a staged closure with silo placement and daily reductions until the bowel rests comfortably in the abdominal cavity.

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B

A

Figure 17-121  Omphalomesenteric duct remnant with communication to the umbilicus with meconium exuding from the umbilicus and meconium staining of the abdominal wall (A). Intraoperative view showing omphalomesenteric duct leading from the bowel to the umbilicus (B).

After desiccation of the umbilical remnant, a polypoid mucosal-appearing lesion may persist at the base of the umbilicus. These are most often umbilical granulomas and represent residual hypertrophic granulation tissue at the base of the cord. These are typically managed with topical treatments including alcohol or silver nitrate sticks. Yellow serous or feculent brown drainage from an apparent umbilical granuloma should raise concerns for a patent urachus or persistence of an omphalomesenteric duct sinus. Drainage of yellow serous fluid is suspicious for urine and in the presence of a patent urachus represents the precordial connection between the allantois and the fetal bladder. The persistence of these anomalies raises concern for bladder outlet obstruction and mandates a urologic workup consisting of ultrasound of the bladder and kidney for signs of obstructive uropathy and voiding cystourethrogram. Persistence of an omphalomesenteric sinus may lead to the development of an internal hernia or volvulus (Fig. 17-121). Surgical exploration to ligate the fistula and resect the omphalomesenteric duct remnant is indicated.

Inguinal and Scrotal Disorders Aberrant descent of the gonads and processus vaginalis gives rise to numerous disorders including hernias, hydroceles, undescended testicles, and testicular torsion (Fig. 17-122). During embryonic development the testicles have their origin at the base of the kidney. Testicular descent leads to

Normal

Congenital hydrocele

Spermatic cord

Hydrocele of the cord

Incomplete hernia

an outpouching or evagination of the peritoneal cavity, the processus vaginalis, which follows the gubernaculum into the scrotum. After completion of testicular descent, the processus vaginalis obliterates, separating the scrotum from the peritoneal cavity. Failure of obliteration results in a persistent patent processus that may allow fluid (hydrocele) or intraperitoneal viscera (intestine, bladder, or ovary) to enter the sac (Figs. 17-123 and 17-124). In girls, fusion of the processus vaginalis occurs earlier in embryonic development, which explains their markedly decreased incidence of inguinal hernias. The ovary is typically found in the hernia sac in girls (Fig. 17-125). Clinically, hernias present as bulges in the groin and scrotum (upper labia majora) that increase in size with Valsalva maneuvers including coughing, straining, or crying. Usually the mass reduces spontaneously or with gentle upward manual pressure on the hernia and downward testicular traction. An inability to reduce the mass should raise concerns for incarceration. Alternatively, persistent inguinoscrotal swelling may represent a nonreducible hydrocele or undescended or retractile testicle. Identification of pediatric hernias on routine physical examination is sometimes difficult. Several provocative maneuvers including induced crying, coughing, gentle abdominal pressure, or other forced Valsalva maneuvers may be helpful. Patients should be examined in both supine and

Complete hernia

Obliterated processus vaginalis

Figure 17-122  Abnormalities of the processus vaginalis.

Figure 17-123  An incomplete inguinal hernia produces a bulge in the left groin but does not extend into the scrotum.

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Figure 17-124  A complete inguinal hernia extends into the scrotum, obscuring the testis.

upright positions. Despite these attempts, the hernia may not be visualized. The presence of a reliable history and the palpation of a thickened processus vaginalis or “silk glove” sign are adequate evidence to proceed with herniorrhaphy. The “silk glove” sign is the sensation on direct palpation of the spermatic cord as it gently glides between two layers of tissue— “silk.” This represents the layers of processus vaginalis or hernia sac. Alternatively, parents may be asked to take a picture of the inguinal region and return when a definite bulge appears. Formerly, herniograms were used to assist in the diagnosis of these difficult cases. However, the attendant complications and risk of pelvic and gonadal radiation have diminished the utility of this study. On occasion other noninvasive studies such as ultrasound have been suggested in these difficult cases. The presence of an inguinal hernia is an indication for prompt repair. These hernias do not resolve spontaneously and have a high risk of incarceration (up to 30%), the inability to reduce the inguinal hernia into the peritoneal cavity, in the first few months of life. Incarceration may be due to strangulation. Strangulated hernias develop intestinal and/or testicular ischemia with subsequent infarction due to vascular entrapment. Incarceration is associated with severe irritability and emesis. The groin hernia becomes erythematous, edematous,

Figure 17-125  Ovaries are frequently found in the hernia sac of young girls.

Figure 17-126  A red, tender hemiscrotum may be due to torsion of the testis with gangrene, a surgical emergency.

and tender. Signs of complete intestinal obstruction may occur with associated ileus, emesis, and bloody stools. Systemic sepsis from bowel ischemia may occur. Acute scrotal inflammation is often a surgical emergency (Fig. 17-126). This may occur not only with incarcerated inguinal hernias but also with other important conditions such as torsion of the testicle, torsion of the appendix testis, testicular trauma, and epididymo-orchitis. Testicular torsion is associated with an acutely tender testicle that may be retracted toward the inguinal region and lie in a somewhat transverse orientation in the scrotum (Fig. 17-127). Torsion of the

Figure 17-127  Twisting of the spermatic cord in testicular torsion pulls the testis proximally, making it lie in a transverse axis. The dark, congested epididymis is seen overlying and to the left of the testis.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 17-128  The congested, twisted appendix testis contrasts with the normal pale pink testis. If the appendix testis can be identified through the scrotum, scrotal exploration is unnecessary. This torsed appendix testis may appear through the translucent skin as a “blue dot” sign.

appendix testis is associated with the “blue dot” sign, which may be seen through the translucent scrotal skin of infants and young children (Fig. 17-128). This condition does not require surgery if an accurate diagnosis can be made. An antecedent history of testicular injury may assist in distinguishing testicular trauma from an incarcerated hernia. A digital rectal examination is one of the most reliable means of determining whether there is incarcerated hernia in an infant. Transrectal palpation of the internal inguinal ring for the presence of a mass or fullness suggests incarceration. Trans-scrotal transillumination is not always a reliable means of distinguishing between a hydrocele and incarcerated hernia. On occasion the thin-walled dilated bowel may transilluminate, giving the misleading impression that a hydrocele is present. Epididymoorchitis may be associated with urinary tract symptoms or previous viral or bacterial urinary tract infection. Hydroceles are most common in infancy and diminish significantly during childhood. They appear as scrotal swellings that may have a diurnal variation in size, often largest in the evening and smaller or absent in the morning. Most hydroceles are isolated to the scrotal region. However, on occasion an isolated inguinal hydrocele may exist that mimics an incarcerated hernia. The classic means of diagnosing hydrocele is by transillumination. Hydroceles that appear at birth are usually noncommunicating and undergo spontaneous resolution over the first year of life. Those that persist beyond 12 to 18 months of age typically have a persistent communication with the peritoneal cavity and need surgical care (Fig. 17-129). Hydroceles may also develop in older children in response to infection or trauma. Persistent hydroceles also require surgical repair. Femoral hernias are uncommon in children (Fig. 17-130).

Figure 17-129  Bilateral congenital hydroceles with buried penis. Groin swellings are absent, distinguishing them from hernias. The fluid collections may fluctuate in size, filling and emptying through a patent processus vaginalis. Spontaneous closure of the processus and absorption of fluid around the testis generally occur, reserving hydrocelectomy for those that persist after age 2 years.

radiographic studies lead to the development of a differential diagnosis that will focus efforts at diagnosis. This serves as a framework from which to further define the nature of the disease. Location is the most important factor for determining the tissue of origin and behavior of an abdominal mass (Fig. 17-131). Retroperitoneal masses are often solid in nature and fixed to adjacent structures. Intraperitoneal masses that arise from the bowel, mesentery, or omentum are usually cystic and mobile. Dense fibrous adhesions encasing inflammatory lesions may also restrict mobility. Cystic intraabdominal lesions arising from the gastrointestinal or genitourinary tract are usually benign in nature. In contrast, solid intraabdominal lesions are predominantly malignant. Extraabdominal manifestations (metastases and associated congenital anomalies) should always be investigated. Age is the second most

ABDOMINAL MASSES AND TUMORS The presence of an abdominal mass in an infant or child mandates a systematic assessment of various factors including the age of the patient, the location of the mass, characteristics of the mass (e.g., firm, cystic, mobile, fixed), and initial diagnostic imaging studies. Although important in other conditions, the history is rarely of major clinical significance in children with abdominal masses because of the protracted presentation of these lesions. On occasion, children may present with acute gastrointestinal or genitourinary tract obstruction. Typically, the physical examination and initial

Figure 17-130  Swelling below the inguinal ligament identifies a femoral hernia, extremely rare in childhood.

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Table 17-5

685

Possible Diagnoses of Abdominal Masses in Infancy and Childhood

Region

Organ

Diagnosis

Epigastrium

Stomach Pancreas Kidney Adrenal Retroperitoneum Ovary Kidney Urachus Omentum, mesentery Bladder, prostate Uterus, vagina Biliary tract Liver

Distended stomach from pyloric stenosis, duplication Pseudocyst Hydronephrosis, Wilms tumor, dysplastic kidney, ureteral duplication Neuroblastoma, ganglioneuroblastoma, ganglioneuroma Neuroblastoma, ganglioneuroblastoma, ganglioneuroma, teratoma Dermoid, teratoma, ovarian tumors, torsion of ovary Pelvic kidney Urachal cyst Omental, mesenteric, peritoneal cysts Obstructed bladder, rhabdomyosarcoma Hydrometrocolpos, hydrocolpos, rhabdomyosarcoma Cholecystitis, choledochal cyst Hepatomegaly resulting from congestion, hepatitis, or tumor; mesenchymal hamartoma; hemangioendothelioma; hepatoblastoma; hepatocellular carcinoma; hepatic abscess; hydatid cyst Intussusception, duplication Splenomegaly resulting from congestion, infectious mononucleosis, leukemic infiltration or lymphoma; splenic abscess; cyst Appendiceal abscess Meconium ileus, inflammatory mass (complicated Crohn disease), intestinal duplication Lymphoma, lymphangioma Fecal impaction Lymphoma, lymphangioma

Flank Lower abdomen

Pelvis Right upper quadrant

Left upper quadrant Right lower quadrant

Left lower quadrant

Intestine Spleen Appendix Ileum Lymphatics Colon Lymphatics

important factor in determining the differential diagnosis of abdominal masses. Table 17-5 summarizes the causes of abdominal masses by age and location. Plain abdominal radiography often provides basic information in determining the location and potential differential diagnosis of an abdominal mass. Bowel displacement from the pelvis suggests the presence of a pelvic extraluminal mass. In contrast, intraluminal lesions may lead to a small bowel obstruction pattern as seen in meconium ileus, intussusception, or constipation. Calcification seen within the mass on plain film suggests the presence of a malignant lesion such as a neuroblastoma, rhabdomyosarcoma, or teratoma. Ultrasonography is traditionally the initial diagnostic tool of choice in patients with abdominal masses. This modality allows the differentiation of solid versus cystic lesions, a critical first stage of evaluation. Ultrasonography may characterize the lesion as arising within the kidney or in the juxtarenal

Figure 17-131  Location of commonly found abdominal masses in children. GI, gastrointestinal; MCD, minimal change disease; LLQ, left lower quadrant; RLQ, right lower quadrant.

location. Alternatively, pelvic lesions may also be determined as being cystic or solid in nature (Fig. 17-132). CT allows precise anatomic differentiation of abdominal lesions and the assessment of extraabdominal disease. CT has become the study of choice by surgeons and other interventionalists in the evaluation of patients with abdominal masses. Because of its utility for assessing extent of local disease, the sites of distant metastases and the character of the lesion, the use of the upper and lower gastrointestinal contrast, in conjunction with intravenous contrast, allows for careful analysis of abdominal and pelvic structures. The presence of bilateral nephrograms and caliceal excretion of contrast is a critical factor if the patient is to undergo a nephrectomy as part of his or her surgical therapy. MRI may be of some utility in patients with abdominal masses; however, in infants this is a somewhat cumbersome study because it is relatively slower and mandates intravenous sedation.

Liver mass Choledochal cyst Benign tumors Malignant tumors

RLQ mass Appendiceal abscess Lymphoma Ectopic kidney Ovarian or testicular mass

Midline

RLQ Lower midline mass Hydrometrocolpos Ovarian cyst or tumor Sacrococcygeal teratoma

Flank Spleen Gastric

Flank Liver

Lower midline

LLQ

Flank mass MCD kidney Hydronephrosis Renal vein thrombosis Neuroblastoma Wilms tumor Adrenal hemorrhage Midline mass GI duplication Mesenteric cyst Omental cyst Urachal cyst Meconium pseudocyst Pancreatic pseudocyst LLQ mass Fecal impaction Ovarian or testicular mass

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Figure 17-132  A pelvic neuroblastoma causes compression of the rectum on barium enema study.

Neonates

A

B

Figure 17-134  Posterior urethral valves cause dilation of the bladder and both upper tracts, shown here on anteroposterior (A) and lateral (B) views of a retrograde contrast study.

Neonatal abdominal masses are benign genitourinary lesions in 75% to 80% of cases. The most common abdominal masses are congenital obstructive hydronephrosis and multicystic dysplastic kidney. Congenital hydronephrosis presents as a bulky, smooth, flank mass on physical examination; it is usually secondary to ureteropelvic junction obstruction (Fig. 17-133) and is treated by pyeloplasty to prevent further loss of renal parenchyma or the development of infection. Other genitourinary anomalies such as ureteral duplications and ureteroceles may produce obstructive uropathies that lead to palpable masses. Bilateral flank masses with hydroureteronephrosis may result from posterior urethral valves, the most common cause of distal urinary tract obstruction in boys (Fig. 17-134). Multicystic dysplastic kidney disease often occurs as a unilateral, soft, cystic mass in more than three quarters of cases (Fig. 17-135). Renal vein thrombosis may also present as an abdominal mass in the neonate. This condition is most commonly the result of hyperviscosity syndromes or severe neonatal dehydration (Fig. 17-136). Mesoblastic nephroma, a benign renal tumor that mimics Wilms tumor, is also a common mass that may present in the neonatal period. Other common abdominal masses in the neonatal period may arise from other genitourinary organs, gastrointestinal

structures, or other intraabdominal sites. Ovarian cysts are quite common in the neonatal period. Maternal hormonal stimulation in utero promotes their development, and subsequent withdrawal of this stimulus after delivery leads to their resolution. Congenital vaginal obstruction may also lead to development of a large abdominal mass. Gastrointestinal duplication cysts are often present at birth, but the diagnosis is often not made until later in childhood (Fig. 17-137). Mesenteric and omental cysts are soft, diffuse, and multiloculated lesions that may arise from the omentum or mesentery. These lesions are due to congenital lymphatic obstruction and may be a source of intraabdominal pain secondary to acute hemorrhage (Fig. 17-138). Adrenal masses are common in the newborn and in infancy. These masses may range from the benign mass associated with spontaneous adrenal hemorrhage, perinatal stress, or birth trauma to the malignant neuroblastoma (Fig. 17-139). On occasion, intraabdominal extralobar sequestration may be adjacent to the adrenal gland, suggesting the presence of a malignancy. The most common malignancy of infancy is malignant sacrococcygeal teratoma (Fig. 17-140).

Figure 17-133  The dashed line indicates the extent of a flank mass in an infant with ureteropelvic junction obstruction.

Figure 17-135  A multicystic kidney produces a knobby flank mass.

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Figure 17-138  Omental cyst may cause ill-defined episodic abdominal pain.

Figure 17-136  Renal vein thrombosis may occur as the result of hyperviscosity syndromes or severe neonatal dehydration.

Toddlers and Young Children In stark contrast with the neonate, the presence of an abdominal mass in a toddler or young child is almost equally as likely to be malignant as benign. Neuroblastoma, Wilms tumor, rhabdomyosarcoma, hepatoblastoma, and lymphoma are the most common pediatric solid malignancies. Although each may have histologic similarities, they all have distinct differences in behavior and prognosis that are described later. Neuroblastoma Neuroblastoma is the most common extracranial malignancy of childhood. The vast majority of patients present before their fifth birthday with extensive locoregional disease (stage 3) or widespread metastases (stage 4). These tumors occur along the embryonic tract of neural crest cell migration and may arise anywhere from the neck to the pelvis. They are typically multilobular and firm retroperitoneal masses that encase vessels and cross the abdominal midline. More than half occur

A

in the adrenal or juxtarenal location (Fig. 17-141). Presenting symptoms may include local pain, abdominal distention, failure to thrive, or paralysis. Several major extraabdominal symptoms including cerebellar ataxia; opsoclonus–myoclonus, also known as dancing eyes and feet syndrome; and diffuse, watery diarrhea may be present. Patients may also present with remote neurologic symptoms of paralysis and weakness due to spinal cord invasion or peripheral nerve compression. The prognosis is generally poor (13 Years)

Ovarian size and location Ovarian volume (mL) Uterine length (cm) Corpus-to-cervix ratio Vaginal length (cm) Hymen orifice diameter (mm) Hymen thickness Clitoris width (mm) Clitoris length (mm) Labia minora

Not palpable 0.3-1.7 2.5-4.0 3 : 1 4 1-4

Pelvic brim 0.3-1.9 2.0-3.0 2 : 1 4-5 1-6

Within pelvis 2-8 3.2-5.4 1 : 1 7-8.5 5-10

1.5 × 2.5 × 4 cm 8-20 8.0 (nulliparous) (8 × 5 × 2.5) 2 : 1-3 : 1 10-12 10

Thick 5 10-15 Smooth

Thin 2-5 10-20 Smooth, flat

Variable 5-10 15-20 Tanner stages IV-V completed

Labia majora

Hairless, prominent

Hairless, thin

Thickening 2-5 10-20 Progressive increase in size and prominence Hair growth, labial growth

Vaginal secretions

White or clear, copious

Minimal

pH Normal flora

5.5-7.0 Maternal enteric

Hormonal influence

Maternal hormones

6.5-7.5 Nonpathogenic flora including staphylococci and coliforms Minimal sex steroids

Maturation index of vaginal epithelium*   Parabasal (%)   Intermediate (%)   Superficial (%)

White or clear, variable amount, at times profuse 4.5-5.5 Mixed vaginal flora Low and variable levels of endogenous estrogen and androgens

Separation and differentiation of labia minora and majora White or clear, variable amount 3.5-4.5 Lactobacilli dominant High levels of endogenous cyclic hormones

Proliferative† phase 0 95 5

90-100 0-10 10

20-70 25-50 10-20

0 70 30

Secretory‡ phase 0 95 5

*Vaginal cells sent in liquid ThinPrep solution (Hologic, Bedford, Mass.). † First half of cycle. ‡ Second half of cycle.

examination can be explained or demonstrated and the patient shown how to maneuver into it. Drapes generally are unnecessary for toddlers and preschoolers because they are isolating and often perceived as threatening. However, similar to adolescents, school-age children may find drapes helpful in reducing embarrassment. Young infants can be assessed easily on an examination table after being positioned by the examiner. An older infant, toddler, or preschool child tends to be more relaxed when examined on her mother’s lap, with the mother assisting by gently holding the child in either the frog-leg or lithotomy position (Fig. 18-6). School-age children usually can be examined on the table in the frog-leg, lithotomy, or knee–chest position (see Chapter 6). Knee–chest positioning can provide excellent visualization of the hymen and the distal vagina

Figure 18-4  Eleven-year-old patient with hypertrophy of the left labium minus. (Reprinted with permission from Pardo J, Sola V, Ricci P, et al: Laser labioplasty of labia minora, Int J Gynaecol Obstet 93:38-43, 2006.)

(Fig. 18-7, C), but proper positioning can be challenging; some patients may feel threatened by being examined from behind. An alternative means of achieving visualization of the distal vagina is with the patient supine and performing the Valsalva maneuver (i.e., asking the child to push down as if she were going to pass a stool). This often produces distention of the distal vagina and hymenal orifice, facilitating visualization and atraumatic collection of specimens. Use of good focused lighting is essential. In the office setting the otoscope provides excellent focused light and low magnification, which is sufficient for most examinations. Since some young children fear it because of prior painful experiences during otoscopy, the patient should be reassured ahead of time that no speculum will be attached and that she will not be forcibly restrained. Preliminary “examination” of the umbilicus may help allay anxiety. Colposcopes and hand-held lenses also provide excellent magnification when available. Once the patient is properly positioned, visualization of the introitus, hymen, and lower portion of the vagina is facilitated by maneuvers that separate the labia. These maneuvers should be explained first and the child reassured that the examiner is just going to look. If the patient desires or is mildly anxious, she may place her hands beneath the examiner’s, or the mother may be enlisted to perform the maneuver. Some girls prefer to separate their labia themselves. The maneuvers include labial separation (see Fig. 18-2, B), and labial traction (see Figs. 18-2, A and 18-7, B). When using a hand-held light (otoscope) a second set of hands (parent or nurse) may be needed to maximize labial separation and focus the light. Care must be taken to ensure that excess traction is not applied during these maneuvers because it can result in painful tearing of labial adhesions, if present. If the patient is unusually anxious about the procedure and cannot be reassured, the examination should be deferred to a

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A

697

B

Figure 18-5  Physiologic leukorrhea. A, A milky discharge is seen on the perineum of this normal adolescent. It consists of cervical and vaginal secretions produced in response to estrogen stimulation and can be seen in the newborn, peripubertal, and postpubertal periods. B, On microscopy the discharge is found to contain sheets of estrogenized vaginal epithelial cells. Leukocytes are not increased and lactobacilli are the predominant flora.

later date. On occasion, use of an oral benzodiazepine, conscious sedation, or anesthesia may be needed for an adequate evaluation. At no time should a frightened, struggling child be physically restrained and forced to undergo examination; the yield is minimal and the experience physically and emotionally traumatic. On inspection, the clinician can readily ascertain the presence or absence of pubic hair; note the appearance and configuration of the labia majora, labia minora, clitoris, urethra, hymen, and vaginal orifice; observe the color of the mucosa and the presence or absence of rash or discharge; and often visualize the distal vagina. Vaginoscopy is required only occasionally in the prepubertal child in order to perform a complete evaluation for complaints such as vaginal bleeding with or without evidence of trauma, discharge resistant to routine therapy, a suspected vaginal foreign body, and suspected vaginal tumors. Because of the high potential for inflicting pain, especially if the patient moves suddenly, vaginoscopy generally is best performed under anesthesia or sedation. Some older school-age children may tolerate internal examination by a highly skilled examiner without sedation if preparation is careful. Again, a traumatic experience should be avoided. Patients with precocious puberty, suspected abdominal masses, suspected vaginal foreign body, and/or abdominal pain should undergo rectal bimanual examination (vaginal bimanual examination is rarely if ever necessary). Use of adequate lubricant, having the child perform a Valsalva maneuver as the finger is inserted into the rectum, and gentle technique reduce discomfort. In most cases this can be accomplished readily in the office. If the patient is unable to cooperate, the procedure should be deferred and an examination under anesthesia considered when warranted on the basis of clinical circumstances or the results of ancillary studies such

A

as sonography or MRI. Computed tomography involves greater radiation exposure and provides poorer resolution of pelvic structures and thus should be used only to provide information not obtainable by other imaging studies. Specimen Collection If a prepubertal child with vaginal discharge or perineal or urinary complaints is to be evaluated, it is advisable to ask the family not to bathe the patient or to apply any creams for at least 12 hours before the examination. The patient should always be prepared for the procedure with simple and truthful explanations. Routine bacterial cultures, including those for gonococci, can be collected from any visible discharge on the perineum in the prepubertal child. If no discharge is visible, having her perform a Valsalva maneuver may bring some discharge down to the introitus. If this fails and specimens must be collected because of a history of vaginal discharge, specimens can be collected with little discomfort with a Dacron wire swab; this should also be used to collect Chlamydia cultures (required in sexual abuse evaluations), which require superficial epithelial cells from the vaginal wall. Herpes cultures should be obtained from the base of unroofed fresh vesicles or ulcers. To collect specimens of vaginal secretions for culture, wet mounts, or to evaluate the maturation index of vaginal epithelial cells (see Table 18-1), the Dacron wire swab should be premoistened with sterile nonbacteriostatic saline. Before starting, it is often helpful to allow the patient to handle a moistened swab and touch herself with it. The swab is inserted gently through the vaginal opening, taking care to avoid contact with the hymen, which is exquisitely sensitive. This is most easily accomplished with the patient in the knee–chest position or with use of the Valsalva maneuver. However, if collection is likely to be difficult because of pain or anxiety

B

Figure 18-6  Optimal positions for perineal inspection of the young prepubertal girl. This patient has skin desquamation subsequent to a streptococcal infection. A, Frog-leg position on the mother’s lap. B, Lithotomy position on the mother’s lap.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

Figure 18-7  Perineal visualization in various positions and with various techniques of parting the labia (see also Figure 18-2, A and B). A-C, Views of the same child taken on the same day and clearly showing the variations in appearance when using different positions and different techniques to facilitate visualization of the introitus and lower third of the vagina. A, Supine frog-leg position. B, Supine frog-leg position using labial traction. C, knee–chest position. (A-C, Courtesy Mary Carrasco, MD, Mercy Hospital, Pittsburgh, Pa.)

or because the hymenal orifice is very small, application of a topical anesthetic to the perineal and hymenal area beforehand can be beneficial. Although topical lidocaine preparations work within 5 to 10 minutes, they can produce transient discomfort before the onset of anesthetic action, reducing cooperation in some patients. When time permits, use of a newer topical anesthetic cream (e.g., EMLA or LMX) is an excellent alternative. Dry cotton-tipped swabs should be avoided because they tend to abrade the thin vaginal mucosa of the prepubertal child. Table 18-2 lists the specimens that may be considered in evaluating patients with symptoms of vulvitis, vaginitis, or vaginal discharge. The newer nucleic acid amplification tests (NAATs) are highly sensitive and specific in detecting Neisseria gonorrhoeae and Chlamydia trachomatis, and offer the advantage that specimens may be collected from a variety of sites (vaginal wall, urine, urethra, cervix). Product variations necessitate careful adherence to the manufacturer’s instructions regarding acceptable collection sites or specimens to ensure optimal results. If forensic evidence is needed, obtaining specimens for gonococcus and Chlamydia cultures is advised. In addition, in cases of symptomatic gonococcal infection where there are concerns about antibiotic resistance, a culture with sensitivities may also be desirable to ensure proper antibiotic selection, because sensitivities are not part of NAAT testing. When suspicious of infection with Trichomonas in a prepu­ bertal patient, because of a history of sexual abuse, or wet prep findings, a confirmation either by culture incubated in Diamond medium or by NAAT is recommended.

Examination of the Pubertal Patient Indications Continuing the practice of routine inspection of the external genitalia at each well-child visit beyond infancy facilitates early diagnosis of any new problems that may arise and allows evaluation of physical growth and secondary sex characteristics that are important to assess during the peripubertal and pubertal periods. This practice also creates an opportunity to discuss normal anatomy and behaviors, including masturbation; to distinguish acceptable from unacceptable (exploitative or abusive) forms of touching; and to help overcome the reluctance of some parents and children to express concerns

about the genitalia. Ultimately, making assessment and counseling a routine part of well-child care may help reduce anxiety and embarrassment for the child when genital or pelvic examinations are required to evaluate medical concerns. A gynecologic examination should be considered for any patient with a variety of specific complaints and concerns, including those listed in Box 18-1. This examination should include careful inspection of the external genitalia and regional lymph nodes, and palpation of the uterus and adnexa when indicated. In some cases precise assessment of internal pelvic structures may require radiologic imaging. For example, during puberty, if menarche is delayed or menstrual periods are unusually problematic (e.g., excessive pain, unusually irregular flow patterns), ultrasound evaluation can be useful. Use of a speculum is typically not required but is useful in situations that necessitate visual inspection of the vaginal cavity or cervix, including those listed in Box 18-2. Furthermore, the gynecologic examination is an important part of routine health care for sexually active adolescent girls (Box 18-3), and should be considered at 6-month intervals with greater or lesser frequency depending on behavioral risk factors. In the absence of the above indications, a speculum could first be considered at age 21 years. At this age women should undergo their first cervical cytology screening, using liquid-based cytology or traditional Papanicolaou (Pap) smear, according to recommendations from the Committee on Adolescent Health Care of the American College of Obstetricians and Gynecologists (ACOG, 2010). Technique A thorough and directed history precedes the examination. A comprehensive outline is suggested in Table 18-3. Adequate time should be devoted to interviewing the patient alone, which provides an opportunity to ask questions about voluntary and involuntary sexual activity and to explore other concerns that may be difficult to discuss in the presence of a parent. A similar opportunity should be given to the parents to express any particular concerns or worries that they have been reluctant to share in their daughter’s presence. The nature of the initial experience with pelvic examination may greatly affect a young woman’s comfort with her body and the ease with which she experiences routine gynecologic care and sexual relations throughout her adult life. Hence, the examiner’s approach should be sympathetic, unhurried, and

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BOX 18-1 

Indications for Gynecologic Examination in Pubertal Patient ABNORMAL VAGINAL DISCHARGE PAIN Pelvic Perineal Dysuria Abdominal (unexplained)

Table 18-2

Laboratory Investigations for the Evaluation of Gynecologic Complaints

Laboratory Study/ Specimen Saline wet mount KOH Vaginal pH

SUSPECTED SEXUAL ABUSE* CONCERNS WITH PUBERTAL DEVELOPMENT† No secondary sexual development by age 14 yr No menarche if start of puberty more than 2 yr ago No menarche by age 16 yr Abnormal timing or sequence of pubertal development Anatomic abnormalities on genital inspection Increased body hair, severe acne, or masculinization

Vaginal specimens

Cervical specimens Pap smear/ThinPrep

MENSTRUAL DISTURBANCES Dysmenorrhea not responsive to standard treatment Amenorrhea or oligomenorrhea Abnormal uterine bleeding or polymenorrhea

Genital ulcer/lesion specimen

SEXUAL ACTIVITY Routine health care for sexually active individual Sexual contact with partner with a suspected or confirmed STD or related genital symptoms *See Chapter 6. † See Chapter 9. STD, sexually transmitted disease.

sensitive to the modesty of the patient. When patients have had gynecologic examinations in the past, it is helpful to ask them about their prior experience to avoid repeating any previous emotional or physical trauma. Young women should be given the choice of being examined with or without an accompanying adult in the room. Some patients, particularly early adolescents, may be conflicted between their extreme modesty and their desire for support from an accompanying friend, partner, or family member. Suggesting that the support person must stay at the head of the table and using drapes that allow visual (eye) contact between patient and examiner is often the most comfortable compromise for younger adolescents. A chaperone

BOX 18-2 

Indications for Use of a Speculum during Gynecologic Examination Pap smear (patients over 21 yr old; earlier in sexually active immune-compromised patients) Persistent unexplained bleeding Persistent vaginal discharge Suspected injury Suspected foreign body Suspected anatomic abnormality (e.g., vaginal septum, duplicated cervix) Sexual assault* *If assault occurred in the previous 72 hours the patient should be evaluated in a setting equipped to collect and safeguard forensic specimens.

Biopsy Urine specimen Perianal specimen

Serologic tests

699

Diagnostic Utility Inflammatory cells, yeast, trichomonads, clue cells, lactobacilli, mature and immature epithelial cells, sperm Yeast, “whiff test” for bacterial vaginosis (also can be positive with Trichomonas) Elevated in bacterial vaginosis (also can be elevated with Trichomonas). Obtain from lateral or anterior vaginal wall, not from pooled secretions or saline-diluted specimen Routine culture (Amies medium without charcoal) for nonvenereal pathogens Culture for enteric bacteria including Shigella (Cary-Blair medium) Culture for gonorrhea,* Trichomonas, Chlamydia (if forensic evidence needed) NAAT for gonorrhea, Trichomonas, Chlamydia Culture for gonorrhea* or Chlamydia (for forensic evidence); NAAT for gonorrhea or Chlamydia Squamous intraepithelial lesions; consequences of HPV including precancerous and cancerous lesions; cell maturation index (estrogenization) HSV culture (if suspect chancroid use moistened swab at base of lesion and transport as rapidly as possible in Amies medium without charcoal; send to reference laboratory to test for Haemophilus ducreyi) Dysplastic, atrophic, or unusual lesions of vulva, vagina, and cervix Urinalysis; urine culture; gonorrhea, or Chlamydia NAAT Pinworms and eggs: Parent obtains sample during night (or first thing in morning before patient bathes) by pressing firmly over anal area with a pinworm paddle (optically clear polystyrene paddle connected to cap of a transport container) or a 1-inch strip of cellophane tape (which is then affixed to a glass slide) Syphilis (RPR and Treponema-specific testing), HIV

HIV, human immunodeficiency virus; HPV, human papillomavirus; HSV, herpes simplex virus; NAAT, nucleic acid amplification test; RPR, rapid plasma reagin. *Use Amies medium with charcoal.

BOX 18-3 

Routine Screening for the Sexually   Active Adolescent* EXTERNAL GENITAL EXAMINATION AND BIMANUAL EXAMINATION Every 6-12 mo and to evaluate symptoms or exposure to a new partner SPECIFIC TESTING FOR GC, CT, HIV, AND SYPHILIS Every 6-12 mo and to evaluate symptoms or exposure to a new partner WET MOUNT WITH KOH PREPARATION AND VAGINAL PH Every 6-12 mo and to evaluate symptoms or exposure to a new partner VERIFICATION OF HISTORY OF VACCINATION FOR HEPATITIS A AND B AND FOR HPV Every visit until fully immunized PREGNANCY TEST Every 6-12 mo and if any history of underprotected sexual intercourse *See also the following Centers for Disease Control and Prevention website: Sexually transmitted diseases (STDs), www.cdc.gov/std/ treatment/default.htm CT, Chlamydia; GC, gonorrhea; HPV, human papillomavirus.

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Table 18-3

Complete History of an Adolescent with Gynecologic Concerns

Category of Information General   Home   Education/employment   Activities   Drugs   Suicide   Abuse/exploitation Obstetric and Gynecologic History   Menstrual   STI   Pap   Urologic   Vaginal discharge   Vaginal infections   Obstetric   Sexual   Contraceptive

Specific Information Required Who lives there and quality of relationships; sources of conflict and support School, grades, curriculum, repeated grades, goals, behavioral or learning difficulties; if working—type, occupational hazards, hours, literacy/numeracy Exercise, nutritional content (specifically calcium, iron, fat, fiber, folate), body image, eating behaviors/patterns, peer activities, friends, hobbies Caffeine, tobacco, alcohol, marijuana, crack, cocaine, heroin, hallucinogens, pills, injectable drugs; rehabilitation or treatment history Depression, anxiety, psychiatric treatment, medications, major losses or disruptions, counseling history Physical, sexual, or emotional; family, relationship, peer, school, and community violence or exploitation Menarche (age); cycles (length, duration, quantity of flow, use of pads or tampons); first day of last menstrual period; dysmenorrhea and associated disability; premenstrual symptoms (PMS); abnormal bleeding; mid-cycle pain (mittelschmerz) and spotting; douching; feminine hygiene product use (including scented products and deodorants) Herpes, gonorrhea, Chlamydia, syphilis, PID, pubic lice (“crabs”), HPV (venereal warts), Trichomonas, HIV, hepatitis A, B, and C, undiagnosed pelvic pain Abnormal results, colposcopy, biopsies, treatments, follow-up Urinary tract infection or kidney problems, enuresis, incontinence, dysuria, urgency, frequency Color, odor, quantity, duration, pruritus Yeast, bacterial vaginosis, trichomoniasis Previous pregnancies and outcomes, fertility plans and concerns Last and other recent intercourse and protection; specific HIV risk to self and partners; sexual experience and age at onset; sexual practices, condom use; gender of partners, sexual orientation; number of partners, lifetime and recent; satisfaction with sexual experience; sexual problems with self or partner Current and past methods, satisfaction, consistency of use, problems

Past Medical History

Prior sources of care (routine, episodic, and emergency); immunization status including hepatitis A and B and HPV; rubella and varicella status; hypertension; migraines with aura or neurologic signs; thromboembolic events

Medications/Treatment

History of self-treatment with over-the-counter or prescription medications, and any integrative therapies or medications

Family History

Thromboembolic events at an early age or associated with pregnancy or with hormonal contraceptives; disease or death caused by alcohol, drugs, tobacco; gynecologic or obstetric problems; age at childbearing; endocrine problems (especially thyroid); bleeding problems (especially OB/GYN-related bleeding, mucus membrane bleeding, or need for blood transfusion); congenital malformations; mental retardation; reproductive loss

HIV, human immunodeficiency virus; HPV, human papillomavirus; PID, pelvic inflammatory disease; PMS, premenstrual syndrome; STI, sexually transmitted infection.

(such as a nurse) is desirable for all examinations. This should be offered to all patients and is considered standard when the examiner is male, is a trainee, or when there is a history of sexual abuse. The pelvic examination is done after other components of the physical examination. The patient should empty her bladder beforehand, and a urine specimen can be collected at this time if needed for testing. Raising the head of the examining table 20 to 45 degrees helps relax abdominal muscles and facilitates maintenance of visual contact with the patient. She is then assisted into the lithotomy position at the end of the examination table. During the examination, the examiner should talk to the patient to explain what she or he is seeing and to provide reassurance and education. Maintaining a dialogue throughout the procedure also usually helps the patient relax. Conversation can confirm normal anatomic findings and provide the patient with examples of a correct and comfortable vocabulary describing her reproductive anatomy and function. A hand mirror held by the patient is often useful for similar reasons. Before beginning, the examiner should carefully explain the various parts of the examination: inspection of the external genitalia, speculum examination of the vagina and cervix (with specimen collection), and bimanual palpation. Use of anatomic drawings and/or models can be helpful and educational (Fig. 18-8). Gloves should be worn for both external and internal examinations. Patient comfort with being touched may be increased by identifying and then touching distal areas first and moving proximally (e.g., knees, thighs, groin, labia, introitus). Next, the external genitalia are inspected. Pubic hair distribution should be noted as should the presence of any nits, lice, skin or vulvar lesions, or vaginal discharge on the perineum. The introital opening is examined and its edges palpated for any

swellings in the regions of the Bartholin glands. Clitoral size is assessed. The urethral opening is then inspected for erythema or discharge. Any purulent material obtained should be cultured for gonorrhea, but swabs used to obtain Chlamydia cultures from the urethra and any other sites must have direct contact with the mucosal surface, rather than the discharge itself. If a speculum examination is required, successful examination depends on adequate patient preparation and use of appropriate instruments. For virginal adolescents, the narrowbladed Huffman speculum ( 1 2 × 4 1 4 inches) is recommended. Although long enough to expose the cervix, its narrow blades are usually inserted easily through the virginal introitus. Most sexually active adolescents can be examined with the straightsided Pederson speculum ( 7 8 × 4 inches); however, the Huffman speculum should be considered as an alternative for

Figure 18-8  Anatomic drawings are useful for education and to prepare adolescent patients for gynecologic examination.



Figure 18-9  From left to right: The Graves speculum is best reserved for large or gravid adolescents; the Pederson speculum is adequate for most sexually active adolescents; the narrow-bladed Huffman is ideal for virginal adolescents.

a first pelvic examination or for particularly anxious patients. The duck-billed Graves speculum (1 3 8 × 3 3 4 inches) is useful in parous patients (Fig. 18-9). Obese patients may require a Graves speculum or a longer Pederson (1 × 4 3 4 inches) for adequate visualization of the cervix. Metal speculums are preferred because they are easier to manipulate and are available in a greater range of lengths and widths. If only a single size of disposable plastic speculum is routinely used at a facility, it is important to have a backup supply of smaller metal speculums. The patient should be shown the speculum and allowed to touch it if she so desires. Patients experiencing their first pelvic examination should be reassured that only the blades of the speculum will be inserted. Comparing the size of an open speculum to a finger or tampon often is reassuring. The patient should be told that she will feel “a sense of pressure,” not pain, during speculum insertion and should be reminded to breathe at a regular rate because tensing abdominal or pelvic muscles can produce discomfort and make the examination more difficult to perform. The examiner may then gently insert the index finger into the vagina to assess the size of the introital opening and to locate the cervix. Vaginal muscle tone can be assessed by asking the patient to “tighten her muscles” around the examiner’s finger. Conscious relaxation can be practiced by asking the patient to relax those same muscles and to push her buttocks onto the examining table. Both plastic and metal speculums should be moistened with warm water to increase comfort and ease of insertion. With the index finger partially withdrawn but gently pressing on the vaginal floor, the speculum is inserted over the finger into the vagina, taking care to avoid catching pubic hairs or the labia in the mechanism of the speculum. This is done at an oblique angle along the posterior wall to accommodate the vertical introitus and avoid traumatizing the urethra, which lies above the anterior vaginal wall. Another technique that effectively assists insertion involves using the middle and index fingers to stretch the posterior labial folds down and out before inserting the speculum. With the speculum in place the vaginal walls are inspected for erythema, lesions, and quality and quantity of discharge, and specimens are collected (see Specimen Collection, below). After specimens have been collected the speculum is removed, and the bimanual (vaginal–abdominal) examination is performed. Water-based lubricant is placed on the two gloved fingers to be used before inserting them carefully through the introitus into the vagina. The examiner should note the size, consistency, position, and mobility of the uterus and check for tenderness on cervical or fundal motion. The adnexa should be palpated for evidence of enlargement or

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tenderness. After changing the glove on the examining hand, a rectovaginal examination using the index and middle fingers may be performed to confirm an abnormal or uncertain finding on vaginal–abdominal examination, to palpate the cul-de-sac, and to examine a retroflexed uterus. Once the examination is completed, the patient should be helped out of the lithotomy position, given tissues to wipe away any lubricant or discharge, and allowed privacy to get dressed. At the conclusion of the visit the examiner can present the results of any office-based testing (such as microscopic evaluation of wet mount and KOH preparation). The use of handouts, printed pictures, or line drawings can enhance the patient’s understanding of the results (see Fig. 18-8). This is also an opportunity to encourage communication between the young woman and her parent, as appropriate to the circumstance. Specimen Collection Adolescents should be advised not to douche or to use tampons or feminine hygiene products before a gynecologic exami­ nation. To obtain a vaginal sample for gonorrhea (GC) and Chlamydia (CT) NAAT, slide the swab 4 to 5 cm into the vagina and rotate it for 10 to 15 seconds, moistening it against the walls of the vagina. The vaginal pH level can be measured by moistening a cotton-tipped swab on the lateral vaginal wall and rolling it on pH paper (with an appropriate range of pH 3.6 to 6.1). Vaginal pH levels are elevated in bacterial vaginosis and tend to be increased with trichomonal and decreased with candidal infections, respectively. Vaginal secretions should also be obtained with a cotton or Dacron swab and placed in a tube with 1 mL of nonbacteriostatic normal saline for wet mount and potassium hydroxide (KOH) examination. The swabs for GC and CT NAAT and for wet mount may be obtained by the patient (“self-swab”) if the patient prefers, and additional examination is not required. To review the wet mount, a drop of the saline solution containing vaginal secretions is examined under low (×10) and high (×40) power for distribution of epithelial cells, leukocytes, yeast forms, Trichomonas organisms, and clue cells. A drop of 10% KOH is added to a second drop of the saline solution. This preparation is immediately “whiffed” for the presence of the acrid odor associated with amines that is found in bacterial vaginosis and often in patients with trichomoniasis. After this, microscopic scanning of the KOH preparation facilitates identification of yeast forms that may be obscured by epithelial cells on the wet mount. If a speculum examination is required (see Box 18-2), the vaginal pH level is measured by holding pH paper (described previously) against the lateral vaginal wall, away from pooled secretions. Visible vaginal secretions from the posterior vaginal pool should be obtained with a cotton or Dacron swab for wet mount. Before obtaining samples from the cervix, any surface mucus should be gently removed with cotton swabs. Purulent secretions (mucopus) typically turn the swab yellow and may be saved for microscopic examination. The normal nulliparous cervix usually has a small round os (Fig. 18-10). Any cervical lesions seen, such as cysts, warts, polyps, or vesicles, should be noted. An ectropion (or eversion) of the endocervical columnar epithelium onto the cervical surface is common and normal in adolescents (Fig. 18-11). Ectropion should be distinguished from cervicitis, the latter being suggested by erythema, friability, and/or mucopurulent cervical discharge (see Fig. 18-41, A). When a speculum examination is necessary, endocervical swabs can be sent to test for GC and CT as part of routine sexual health care or for the evaluation of pain, bleeding, or cervical discharge. Gonorrhea cultures are obtained by inserting a sterile swab into the endocervical canal and

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circumferentially (360°) around the cervical os, including the entire squamocolumnar junction. A sample from the endocervical canal is collected with a cytobrush (or a cotton swab if the patient is pregnant). Each sample is swished in liquid ThinPrep solution according to laboratory protocol. Cervical cytology results can be uninterpretable in the presence of inflammation and bleeding; therefore it is preferable to defer collection until infections are treated and menstrual bleeding has finished. However, concerns about patient follow-up or urgent clinical needs can justify collection of specimens at less optimal times. It should be noted that a number of strains of human papillomavirus (HPV) have been identified as causative in cervical cancer, as well as genital warts. However, currently available vaccines against HPV do not cover all strains associated with cervical cancer. Therefore Pap smears remain indicated for all patients 21 years and older, unless the patient has immune suppression or HIV infection, in which case annual Pap should begin with the onset of sexual activity. Figure 18-10  Normal nulliparous cervix. The surface is covered with pink squamous epithelium that is uniform in consistency. The os is small and round. A small area of ectropion is visible inferior to the os. (Courtesy C. Stevens.)

GENITAL TRACT OBSTRUCTION Labial Adhesions

rotating it for at least 10 seconds. The swab is then placed immediately into a selective transport or culture medium. Either medium must be at room temperature before inoculation. Gonorrhea-specific media prevent bacterial overgrowth by other species and allow a longer transport time. Chlamydia cultures require mucosal surface cells because the pathogen is an obligate intracellular organism. Dacron swabs are placed in the endocervical canal and thoroughly rotated to obtain the necessary cellular material. Wooden swabs are not acceptable for Chlamydia tests. NAATs, because of their ability to detect minute quantities of pathogen DNA/RNA, do not require obtaining mucosal cells for either GC or CT. Cervical cytology (Pap) screening using liquid-based cytology to check for cervical dysplasia (a precursor of cervical cancer) is done by rotating a plastic Ayre spatula

Figure 18-11  Ectropion. Columnar mucosal cells usually found in the endocervical canal have extended out onto the surface of the cervix, creating a circular raised erythematous appearance. Note the normal nonpurulent cervical mucus. This normal variant is not to be confused with cervicitis. (Courtesy E. Jerome, MD.)

The most common form of “vaginal obstruction” in prepubertal patients is really a pseudo-obstruction or partial obstruction produced by “fusion” of the labia minora as a result of labial adhesions. On inspection the clinician finds a smooth, flat membrane with a thin lucent central line overlying the introitus. It is postulated that inflammation and erosion of the superficial layers of the mucosa—whether caused by infection, dermatitis, or mechanical trauma—result in agglutination of the apposed labia minora by fibrous tissue on healing. The process typically begins posteriorly and extends forward. In most cases the fused portion is less than 1 cm in length, but on occasion it can extend to cover the vaginal vestibule and rarely the urethra (Fig. 18-12, A and B). Even when fusion is extensive, urine and vaginal secretions are able to exit through the opening anteriorly. However, some urine may become trapped behind the adhesions after toileting. This may cause further irritation, perpetuating the condition or fostering extension of the adhesions. Although most labial adhesions are asymptomatic, some patients have symptoms of lower urinary tract and vulval inflammation. If resolution of the fused labia is desired, the condition readily responds to application of estrogen cream along the line of fusion twice daily for 2 weeks followed by nightly application for an additional week. On occasion the course needs to be extended for an additional 2 weeks, or an increased volume of estrogen cream is advised. After the labia have separated, a zinc oxide–based cream should be applied nightly for several months to prevent recurrence. The patient’s parent should be informed that topical estrogen may cause transient hyperpigmentation of the labia and the areolae and an increase in breast tissue, but that these changes regress once therapy is completed. An estrogen withdrawal bleed (similar to that seen in the neonate) occasionally occurs. Removal of irritants, treatment of infections, and instructions on good perineal hygiene help prevent recurrence. Nonetheless, refusion can occur, although repeated treatment is not necessary if the child is asymptomatic. Manual separation of fused labia is painful, traumatic, and frequently followed by a recurrence. Hence this practice should be abandoned. True fusion—adhesions present in the first months of life or adhesions that do not respond to the prescribed therapy—requires further evaluation for abnormalities in gender differentiation or androgen production.

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A

703

B

Figure 18-12  Labial adhesions. Agglutination and adhesion of the labia minora, as a result of healing after inflammation, produce the appearance of a smooth flat surface overlying the introitus, divided centrally by a thin lucent line. A, In this infant, the fused portion involves the posterior half of the introitus. B, In another, the fused area has extended much further anteriorly. (A, Courtesy Carol Byers, CRNP, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.; B, courtesy D. Lloyd, MD.)

Female Genital Cutting Female genital cutting (FGC) is another cause of genital tract obstruction seen with increasing frequency by pediatricians, especially those who care for large numbers of patients from Africa, the Middle East, and Asia. This ritual cutting and alteration of female genitalia has no known medical benefits and carries potentially life-threatening short- and long-term health consequences. Figure 18-13, A-D illustrates the various types of FGC. Further information about this topic can be found at the World Health Organization website (see Websites, following the bibliography). The World Health Organization is working to eliminate this practice, considering it a human rights violation of girls and women. However, pediatricians who encounter girls who have undergone these procedures must be sensitive both to the complex religious and sociocultural norms that motivate families to practice FGC as well as to the consequences to the individual patient.

Imperforate Hymen The congenital anomaly referred to as imperforate hymen consists of a thick imperforate membrane located just inside the hymenal ring. This is the most common truly obstructive abnormality. It is frequently missed on the newborn examination because of the redundancy of hymenal folds. However, it may become evident by 8 to 12 weeks of age on careful perineal inspection, appearing as a thin, transparent hymenal membrane that bulges when the infant cries or strains. On occasion, young infants have copious vaginal secretions secondary to stimulation by maternal hormones, and as a result of this anomaly they develop hydrocolpos. In such cases the infant may have midline swelling of the lower abdomen (especially noticeable when the bladder is full) that feels cystic on palpation. Perineal inspection reveals a whitish, bulging membrane at the introitus. The cystic mass may also be palpable on rectal examination. In the presence of a neonatal withdrawal bleed or trauma, a hematocolpos may develop. This presents as a red or purplish bulge (Fig. 18-14). Treatment consists of incision of the membrane to allow drainage, followed by excision of redundant tissue.

If her condition goes undetected, the patient with an imperforate hymen usually develops hematocolpos in late puberty. The major complaints are intermittent lower abdominal pain and low back pain, which rapidly progress in severity and duration. Over time difficulty in urination and defecation may develop, and a lower abdominal swelling may become noticeable. The patient has well-developed secondary sex characteristics but has had no menstrual periods. Perineal inspection reveals a thick, tense, bulging membrane, often bluish in color, at the introitus (Fig. 18-15, A). A low cystic swelling is palpable anteriorly on rectal examination. Operative incision allows drainage of the accumulated blood and vaginal secretions (Fig. 18-15, B) and is followed by excision of the membrane. Other partially obstructive hymenal abnormalities may allow menstrual blood to flow but later cause difficulty inserting tampons or initiating intercourse. Because hymens are not of müllerian origin, imperforate hymens are not associated with other genitourinary abnormalities. Other forms of genital tract obstruction (Box 18-4) are rare. In most cases early routine genital inspection reveals the absence of a vaginal orifice, enabling early delineation of the anomaly and thus facilitating treatment. Proximal obstructing anomalies may not be apparent on physical examination. If missed in infancy or childhood, partial or complete obstruction can present with a wide range of signs and symptoms, such as those listed in Box 18-5. As noted earlier, ultrasonography is a valuable screening tool in evaluating girls suspected of having genital tract obstruction, bearing in mind its limitations in visualization of internal structures after the neonatal period and before puberty, when they are very small given minimal amounts of estrogen and gonadotropins. When structures are not seen or when further anatomic detail is required, consultation with a radiologist regarding an MRI is recommended.

GENITAL TRAUMA As mentioned earlier, the genital structures and pelvic supporting tissues of the prepubescent girl are smaller and considerably more rigid than those of adolescent or adult women. This inelasticity significantly increases the risks of tearing with

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Partial or total removal of clitoris Clitoris

Labia majora Urethral opening Labia minora Vaginal opening

Anus

A

C

Normal

Type 2 FGC Clitoris and partial or total removal of labia minora

B

Type 1 FGC

D

Type 3 FGC Clitoris and partial or total removal of labia minora—labia majora stitched together to cover urethral and vaginal openings

Figure 18-13  Female genital cutting (FGC) is classified into four types. A, Normal female genital anatomy. B, Type 1 FGC, “clitoredectomy,” involves partial or total removal of the clitoris, and/or the skin around it. C, Type 2 FGC, removal of the clitoris and labia minora. D, Type 3 FGC, removal of the clitoris and labia minora, and labia majora sewn together to cover urethral opening and most of the vaginal opening. Type 4 FGC involves all other alterations including pricking, piercing, incising, or cauterizing the genitalia.

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BOX 18-4 

Causes of Genital Tract Obstruction Labial fusion (underlying endocrine pathology) Labial adhesions (partial obstruction) Female genital cutting sequelae Imperforate hymen Vaginal atresia (failure to canalize the vaginal plate) Vaginal (with or without uterine) agenesis, including MayerRokitansky-Kuster-Hauser syndrome (müllerian aplasia); congenital absence of the vagina and uterus Transverse vaginal septum at the junction of the upper one third and lower two thirds of the vagina Longitudinal vaginal septum Androgen insensitivity (testicular feminization syndrome) Obstructing müllerian malformations, with elements of duplication, agenesis, and/or incomplete fusion Tumors of the upper and lower genital tracts; other pelvic masses

Figure 18-14  Imperforate hymen with neonatal hematocolpos. A dark purplish bulge at the introitus was noted by the mother during a diaper change.

either blunt or penetrating trauma, and of internal extension of injury, especially in cases of penetrating trauma. Appropriate assessment and management necessitate appreciation of these differences because serious internal injuries of the vagina, rectum, urethra, bladder, and peritoneal structures may underlie deceptively mild external abnormalities. Careful attention must be given to vital signs; abdominal examination; and evaluation of the urethra, hymen, lower vagina, perineal body, and rectum. Clues to internal extension of injury include hymenal tears, vaginal bleeding and/or vaginal hematoma, tears of the perineal body, inability to urinate or gross hematuria, and abnormal sphincter tone or rectal bleeding. When injuries have extended to involve peritoneal structures, lower abdominal tenderness is seen, and at times is associated with signs of hypovolemia. Direct tenderness may range from mild to marked and may or may not be accompanied by rebound tenderness. On occasion a palpable mass is present. Adolescents, in contrast, are more likely to have contusions than tears and are less likely to have internal extension of injury unless the applied force is very great. The role of the primary care or emergency physician is to assess the patient’s general status and determine the likely extent and cause of the injury. This can be accomplished largely with a good general examination, careful perineal and

A

BOX 18-5 

Symptoms and Signs Associated with Genital   Tract Obstruction SYMPTOMS Vaginal, pelvic, or abdominal pain (especially cyclic) Dysmenorrhea Urinary tract symptoms Primary amenorrhea Irregular vaginal bleeding Purulent vaginal discharge Difficulty using tampons Difficulty initiating intercourse Dyspareunia SIGNS Vaginal, pelvic, or abdominal mass Hydrocolpos (mucus in vagina) Hematocolpos (blood in vagina) Pyohematocolpos (pus and blood in vagina) Hematometria (blood within the uterus)

B

Figure 18-15  Imperforate hymen with hematocolpos. This adolescent presented with a 2-month history of intermittent crampy lower abdominal pain, which had acutely worsened. She had well-developed secondary sex characteristics but was premenarchal by history. A, Examination revealed midline fullness and tenderness of the lower abdomen and a smooth bulging mass at the introitus. B, Incision of the imperforate membrane just inside the hymenal ring allowed the accumulated menstrual blood and vaginal secretions to drain. (Courtesy D. Lloyd, MD.)

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perianal inspection, rectal examination, and urinalysis. Rectal examination should be deferred in cases of possible anal rape and when anal lacerations are evident on inspection, to prevent further physical and emotional trauma. The physician must be sensitive to the patient’s physical discomfort and emotional distress at all times, providing emotional support and appropriate pain control whenever possible. Patients should also be protected from having to undergo multiple examinations, a particular risk with consultation of multiple subspecialists, transfer to other institutions, or in teaching hospitals. When external inspection suggests that the prepubertal patient’s perineal or perianal injuries are more than superficial, internal examination under anesthesia (by a pediatric surgeon or gynecologist) should be arranged. This enables meticulous inspection, wound exploration, and repair under optimal conditions without further traumatizing the child. Some adolescents may be able to tolerate inspection and internal examination as outpatients. However, if injuries are severe or if the postmenarchal patient is too anxious to undergo pelvic examination when indicated, examination under sedation or anesthesia is the better course.

Superficial Genital Trauma The majority of superficial perineal trauma cases are the result of mild, blunt force incurred via straddle injury, minor falls, or sexual abuse. Patients with accidental injuries that result in pain, swelling, or bleeding are rapidly brought to medical attention. A clear history of the preceding incident (often witnessed) is usually given, and findings fit the reported mechanism of injury. However, accidentally incurred superficial abrasions may not be noticed by parents until the child cries on urination, complains of dysuria, or blood is noticed on the child’s underwear or toilet paper. As noted in Chapter 6, victims of sexual abuse may complain of abuse but more often complain of unexplained bleeding or pain with no history of trauma, and the time of presentation is often significantly delayed. Typical lesions include superficial abrasions, mild contusions, and occasionally superficial lacerations (Fig. 18-16, A-C). The latter are found most frequently at the junction of the labia majora and minora and usually are only 1 to 3 mm deep. Accidental straddle injuries result in the crushing of the perineal soft tissues between the pubis and the object on which the patient falls or bumps herself. Hence these tend to produce abrasions, contusions, or tears in and around the area of the clitoris and the anterior portions of the labia majora and

A

B

minora (Fig. 18-16, A and B; and see Fig. 18-18). Minor falls onto or scrapes against sharp objects tend to produce simple perineal and vulval lacerations. As in cases of mild blunt trauma, the junction of the labia minora and majora is the site most frequently involved; however, tears of the labia majora or perineal body are not uncommon. In contrast to accidental injuries, those that result from sexual abuse tend to be more posteriorly located and typically involve tears of the posterior portion of the hymen, the posterior fourchette, or perineal body (Fig. 18-16, C and Fig. 18-17; and see Chapter 6). Whether blunt or penetrating, when injuries are truly superficial, bleeding, if present at all, tends to be scant. The exception to this is a penetrating injury involving the corpus cavernosum of the labia majora, in which case hemorrhage may be profuse. Patients with superficial injuries may experience mild perineal discomfort and pain on urination, but otherwise are asymptomatic. Most of these injuries can be managed supportively with analgesia, topical bacteriostatic and/or anesthetic ointments, sitz baths, and careful perineal cleansing. Application of the ointment before urinating reduces the severity of dysuria, as does urinating in a tub of water. If urinary retention continues to be a problem, use of a topical anesthetic ointment for a few days may be necessary. Deeper tears of the labia majora necessitate control of bleeding vessels and suturing under anesthesia. Urethral prolapse and lichen sclerosus et atrophicus may cause bleeding and therefore be mistaken for trauma. See Common Perineal Conditions (later) and Figures 18-28 and 18-29.

Moderate Genital Trauma Moderately forceful blunt trauma often results in perineal tears and in venous disruption and hematoma formation. Hematomas of the perineum appear as tense round swellings with purplish discoloration, which are tender on palpation (Fig. 18-18). When large, these may cause intense perineal pain. Those located in the periurethral area may interfere with urination. Moderate blunt force can also produce submucosal tears of the vagina and even mucosal separation with resultant vaginal bleeding or vaginal hematoma formation (Figs. 18-18 and 18-19). In some cases the associated external injuries can be deceptively mild (see Fig. 18-19). Vaginal hematomas are the source of significant pain that usually is perceived as perineal and/or vaginal but at times is referred to the rectum or buttocks. Inspection through the vaginal orifice reveals a bluish swelling involving one of the lateral walls. This may also be evident as a tender swelling anterolaterally on rectal examination.

C

Figure 18-16  Superficial blunt trauma. A, Superficial abrasions and bruising are seen anteriorly on either side of the clitoris and urethra in a 3-year-old who presented with dysuria. B, In another toddler a superficial abrasion/laceration is seen between the left labia minora and majora after a straddle injury. C, These healing superficial abrasions involving the posterior fourchette and perianal area were the result of sexual abuse. (A and B, Courtesy Janet Squires, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)



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Figure 18-17  Superficial penetrating injury. This infant had a chief complaint of blood spotting on the diaper. Inspection revealed a perineal tear just posterior to the hymenal ring. There was no evidence of internal extension on vaginoscopy under anesthesia. Sexual abuse was suspected.

Moderate penetrating injuries result primarily from falls onto sharp objects (“picket fence injury”), rape, sexual molestation with phallus-shaped objects, and occasionally auto accidents. Lesions include perineal tears that extend into the vagina, rectum, or bladder but do not breach the peritoneum. Although many patients have external lacerations that obviously are extensive on inspection (Fig. 18-20; and see Chapter 6), a significant proportion have deceptively minor external injuries. In the absence of associated hematomas, extensive tears may produce little pain. Furthermore, although most such injuries result in moderate bleeding, some patients have remarkably little blood loss. Whether the mechanism of injury involves blunt force or penetration, internal extension of injury is probable when physical findings include bleeding through the vaginal

Figure 18-18  Moderate genital trauma. After a straddle injury on a diving board, this 9-year-old girl had vaginal bleeding. Inspection disclosed a hematoma of the anterior portion of the right labia majora, contusions of the clitoris and anterior labia minora, and a hematoma protruding through the vaginal opening. A small superficial laceration is present on the left, between the labia majora and minora. At vaginoscopy under anesthesia a vaginal tear involving the right lateral wall was found. (Courtesy K. Sukarochana, MD, Pittsburgh, Pa.)

Figure 18-19  Moderate blunt trauma. This 6-year-old girl had painless vaginal bleeding, which had soaked three sanitary pads in 2 hours. External inspection revealed a superficial tear of the anterior portion of the perineal body, a small hematoma to the right of the introitus, and blood trickling through the vaginal orifice. Examination under anesthesia disclosed a tear of the lateral vaginal wall. Sexual abuse was strongly suspected. (Courtesy K. Sukarochana, MD, Pittsburgh, Pa.)

orifice; a vaginal hematoma; rectal bleeding, rectal tenderness, or abnormal sphincter tone; or gross hematuria or inability to urinate. All such patients warrant exploration and repair in the operating room. This obviates the need for extensive examination in the office or emergency department.

Figure 18-20  Moderately severe penetrating genital trauma. This youngster fell while roller skating downhill and slid on her bottom for several feet over the sidewalk, tearing her perineum on an object projecting up between two of the cement plates. A laceration involving the right labia majora and minora, extending through the perineal body to the anus, is evident on inspection. The patient complained of only minor discomfort. Examination under anesthesia revealed vaginal and rectal extension of the tear with complete transection of the external anal sphincter. The peritoneum was intact.

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A

B

Figure 18-21  Severe blunt perineal trauma. After a fall from a second-story window in which she had landed on her bottom, this young child had labial contusions and hematomas, lower abdominal tenderness, and signs of hypovolemia (A). The force of the fall ruptured pelvic vessels, resulting in retroperitoneal bleeding that ultimately extended along the anterior abdominal wall (B). These photographs were taken several days after the injury. (Courtesy Marc Rowe, MD, Sanibel, Fla.)

Severe Genital Trauma Severe falls from heights onto flat surfaces can produce major perineal lacerations simulating penetrating injury. In addition, they occasionally disrupt the pelvic vessels, mesentery, and intestine, with or without pelvic fracture (Fig. 18-21). Similarly, severe penetrating injury may produce tears that extend through the cul-de-sac, rupturing pelvic vessels and tearing intraabdominal structures. External injuries in these cases usually are extensive and associated with significant bleeding, but on occasion can be deceptively minor in appearance. Children with peritoneal extension of injury complain of lower abdominal and perineal pain, which may radiate down one leg. Abdominal examination should reveal at least mild direct tenderness early on. Later, guarding and rebound tenderness may be noted. Patients with pelvic bleeding ultimately tend to develop signs of hypovolemia, although this may not be evident immediately after the injury. Any patient with clinical signs of peritoneal extension of genital trauma warrants prompt hemodynamic stabilization followed by appropriate imaging, surgical exploration, and repair.

VULVOVAGINAL DISORDERS Vulvovaginal Complaints in Prepubertal Patients Strictly defined, the term vulvovaginitis denotes an inflammatory process involving both the vulva and the vagina. In practice, however, the term prepubertal vulvovaginitis is used less precisely to refer to patients who describe symptoms of dysuria, vulvar pain or itching, or vaginal discharge but who may lack signs of inflammation or who have evidence of only vulvar or vaginal involvement. Vulvovaginal complaints are relatively common in prepubertal girls in part because the labia do not fully cover and thus do not completely protect the vaginal vestibule from friction and external irritants, especially when the child is sitting or squatting. In addition, the unestrogenized vaginal epithelium is thin, relatively friable, and more easily traumatized. Transient irritation without discharge is common in the young child as a result of exposure to chemical irritants and inconsistent hygiene. Frictional irritation and poor aeration are also common and can be exacerbated by obesity. Finally, young children are less careful than

older children and adults about cleansing their perineum after toileting and avoiding contamination with stool. Causes of vulvovaginitis are most easily classified into noninfectious and infectious subgroups, with the latter subclassified into nonsexually and sexually transmitted infections. Table 18-4 presents the most common causes of noninfectious vulvovaginitis with specific historic clues suggestive of each condition. Table 18-5 presents the infectious causes. Nonsexually transmitted bacterial pathogens and the herpes simplex viruses often are spread to the vulvovaginal area from another site (e.g., nose, mouth, throat, skin, or gastrointestinal tract) by the patient’s hands. Candida organisms, although a common cause of diaper dermatitis, rarely cause vulvovaginitis in the prepubertal child who is no longer wearing diapers. However, children who are receiving systemic antibiotics or steroids, or have underlying diabetes mellitus, may develop dysuria and vulvar discomfort that responds to topical (azole) antifungals. In the prepubertal child, vulvovaginitis caused by sexually transmitted pathogens is almost always acquired through sexual contact (Chapter 6). In contrast to adolescents and adults, prepubertal girls are at little risk for internal extension of vulvovaginal infections (cervicitis and pelvic inflammatory disease) because the unestrogenized genital tract does not support the ascent of infection through the uterus and fallopian tubes. The evaluation of prepubertal patients with vulvovaginal complaints must include questions related to the following: symptoms experienced including any associated abdominal pain, dysuria, frequency, urgency, or perianal pruritus; symptom duration; a history of any recent respiratory, gastrointestinal, and urinary tract infections; exposure to irritants (Box 18-6); hygiene practices; bowel and bladder habits; type of clothing worn; recent activities (such as daily swimming); and medications and topical agents. When sexual abuse is suspected, a list of the child’s caretakers should be obtained along with any history of possible sexual contact (Chapter 6). Developmental, behavioral, environmental, and medical histories all may contribute to a definitive diagnosis and aid in the formulation of a therapeutic plan. Physical assessment must include determination of the degree of pubertal development, inguinal and abdominal examination, along with careful rectal, perineal, and vaginal inspection. The degree and extent of inflammation and excoriation should be documented. Parents should be encouraged to bring in any available soiled or discolored underwear,

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Table 18-4

Noninfectious Causes of Prepubertal and Postpubertal Vulvovaginitis and Dysuria

Condition

Historical Clues

Poor hygiene

Recent toilet independence; infrequent bathing, hand washing, and clothing changes; soiled underwear Tight clothing, nylon underwear, tights, and leotards; wet bathing suits; hot tubs; obesity Tight clothing, sports, sand from sandbox or beach play, excessive masturbation or sexual abuse, obesity, hair removal See products listed in Box 18-6 Poison ivy; see also Box 18-6 Wiping habits, excessive masturbation or self-exploration, sexual abuse, use of condoms, tampons, or sex toys Home environment, pets, sandboxes, travel, camping, exposure to woods or beach Topical steroid or hormone creams, antibiotics, chemotherapy History of pruritus, chronic skin lesions, prior diagnosis Vesicovaginal or rectovaginal fistula, ectopic ureter, spina bifida, cloacal anomalies, urogenital anomalies Discharge, bleeding, bulging abdomen, change in bowel or bladder function, premature puberty Prior infection or medication use; tampon use; evidence from other physical findings including rash, failure to gain weight or height, abdominal pain, diarrhea History of anorexia, vomiting, fever, and progression of periumbilical to right lower quadrant pain

Poor perineal aeration Frictional trauma

Chemical irritants Contact dermatitis Vaginal foreign bodies Parasites, insect bites, infestations Medication-related Generalized skin disorders Anatomic anomalies Neoplasms Systemic illness (StevensJohnson syndrome, Crohn disease with perineal fistulas and ulcers, toxic shock syndrome) Pelvic appendiceal abscess

which should be checked for fit, cleanliness, and signs of blood, discharge, stool, and urine. When patients are seen by appointment for vulvovaginal complaints, parents should be asked not to bathe or apply creams to the child for 12 to 24 hours before the evaluation; otherwise, many children with a history of discharge have none when examined. The presence of a vaginal discharge necessitates specimen collection (see Table 18-2 and Examination of the Prepubertal Patient, earlier). If a vaginal foreign body is suspected, rectal examination and vaginoscopy are indicated in consultation with a practitioner experienced in such procedures. Ultrasonography can be helpful in confirming the presence of some

BOX 18-6 

Products That Can Cause Chemical Irritation or Contact Dermatitis Bubble bath or other bath additives Harsh or perfumed soaps Harsh laundry detergents Dryer sheets or fabric softeners Talc or other powders Topical creams or ointments Shaving or hair removal products Perfumed or dyed toilet paper Perfumed sanitary pads and panty liners Douches or other feminine hygiene products Urine or stool Spermicides

Table 18-5

709

Infectious Causes of Prepubertal and Postpubertal Vulvovaginitis

Nonsexually Transmitted Pathogens

Sexually Transmitted Pathogens

Bacterial Respiratory and/or Skin Pathogens

Bacterial Pathogens

  Group A β-hemolytic streptococci   Streptococcus pneumoniae   Staphylococci   Candida species*

  Chlamydia trachomatis   Neisseria gonorrhoeae   Mycoplasma genitalis   Ureaplasma species   Treponema pallidum

Viral Pathogens   Herpes simplex virus types 1 and 2   Epstein-Barr virus (EBV)   Varicella-zoster virus Gastrointestinal Pathogens   Escherichia coli   Shigella species   Enterobius vermicularis   Yersinia species

Protozoa   Trichomonas vaginalis Viral Pathogens   Herpes simplex virus types 1 and 2   Human papillomavirus   Human immunodeficiency virus (HIV) Parasites   Phthirus pubis (lice)   Sarcoptes scabiei

*Infection rare before puberty.

foreign objects. X-rays of the pelvic area should be ordered selectively when benefit outweighs the risk, and information cannot be obtained without radiation exposure.

Vulvovaginal Complaints in Pubertal Patients Among sexually active adolescent girls, infectious processes are the major source of vulvovaginal inflammation, and sexually transmitted pathogens are the predominant offending organisms. Estrogenization and maturation of the genital tract alter its pathophysiologic response, favoring upward spread of some infectious processes, particularly those caused by gonorrhea and Chlamydia. As a result, asymptomatic or subclinical upper tract infection, cervicitis, endometritis, and pelvic inflammatory disease are significant concerns after menarche. Vulvar lesions, vaginal discharge, odor, pruritus, and dysuria are common complaints in adolescents. Irregular or postcoital bleeding, dyspareunia, pelvic pain, and fever may be reported as well. These symptoms are relatively nonspecific and may represent the final common pathway of different causes of irritation, infection, or infestation. In addition to identification of specific etiologic agents, a major goal of evaluation is to differentiate vulvovaginal or cervical processes from pregnancy (normal or ectopic), from upper tract disease (e.g., pelvic inflammatory disease, adnexal torsion, or cysts), from urinary tract problems, and from intraabdominal processes (e.g., appendicitis, colitis, endometriosis, chronic constipation, or tumors). Hence a complete gynecologic examination is necessary when evaluating sexually active adolescents with vulvovaginal complaints and should be considered for symptomatic nonsexually active adolescents. Systemic signs and symptoms and abnormalities on bimanual pelvic examination suggest processes involving the uterus and adnexal and/or peritoneal structures. In contrast, isolated vulvovaginal disorders rarely are accompanied by such findings. In most cases, careful history, inspection, office laboratory tests and selected cultures (see Table 18-2), and other tests for infectious etiologic agents (see Table 18-5) provide a

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Table 18-6

Clinical and Laboratory Features of Disorders Causing Vaginal Discharge in Adolescents Physiologic

Candida

Chlamydia

Gonorrhea

Trichomonas

Bacterial Vaginosis

HSV

Appearance of discharge

White, gray, or clear, mucoid

White, curdlike, with adherent plaques

Mucopus at cervix; yellow or greenish discharge

Serous

Variable

Variable

Variable

Gray, yellow, or green; sometimes frothy; malodorous Profuse

Gray, white; homogeneous, thin

Amount of discharge Vulvar and vaginal inflammation

Mucopus at cervix; friable cervix with bloody discharge Variable

Variable

Variable

None or mild with copious leukorrhea ≤4.5

Usual

Not usual

Not usual

Common

Rare

≤4.5

Variable

≤4.5

≥4.5

≥4.5

Common with a few to many ulcers ≤4.5

↑WBCs, positive KOH with pseudohyphae and budding yeast in 50% of patients Menstruation, broad-spectrum antibiotics, diabetes, local heat and moisture, pregnancy, OCPs, topical steroid or hormone creams, HIV and other immune deficiencies Itching prominent; may have dysuria or dyspareunia

↑WBCs

↑↑WBCs

Few WBCs; positive for clue cells in saline prep

↑↑WBCs

Sexual activity, other STI

Sexual activity, other STI; symptoms develop during and after menstrual period

↑↑WBCs, motile trichomonads in saline prep in 50% of patients Other STI

Previous BV, sexual activity, douching

Stress and local trauma (including shaving)

Urethritis, PID, perihepatitis

Urethritis, PID, perihepatitis, pharyngitis, proctitis, systemic illness, arthritis, tenosynovitis, skin lesions Negative

Vulvar itching and burning prominent; dysuria; pelvic discomfort

Fishy odor; odor increased after unprotected intercourse

Sometimes positive

Positive

Regional adenopathy with primary infection; prodromal and undercurrent itching and pain Negative

pH of vaginal discharge Microscopy

Epithelial cells, few WBCs, lactobacilli

Predisposing or concurrent factors

Secretion of estrogen

Other clinical signs and symptoms

None

Whiff test (acrid amine odor on addition of 10% KOH)

Negative

Negative

Negative

↑, increased; ↑↑, markedly increased; BV, bacterial vaginosis; HIV, human immunodeficiency virus; HSV, herpes simplex virus; OCP, oral contraceptive pill; PID, pelvic inflammatory disease; STI, sexually transmitted infection; WBCs, white blood cells.

specific diagnosis on which to base treatment decisions. Some clinical and laboratory features of various etiologic agents of vaginal discharge are presented in Table 18-6. Physiologic Leukorrhea Physiologic leukorrhea is a normal phenomenon and not a form of vulvovaginitis. These normal secretions are produced in response to estrogen stimulation and thus are seen in the newborn period and return during the months preceding menarche. Physiologic leukorrhea is clear or milky, relatively thin, odorless, and (usually) nonirritating (see Fig. 18-5, A). When dried on underwear, it may appear yellow. Girls near menarche often complain of discharge because they and their mothers are not aware that these new secretions are normal. Furthermore, because of the unopposed influence of estrogen, some pubertal girls experience a transient period of excessive leukorrhea that can be irritating. Examination reveals normal pubertal development including findings of breast development, presence of pubic hair, and evidence of estrogenization of the labia and distal vaginal mucosa along with the typical discharge. Diagnosis is confirmed by findings on wet preparation microscopy, which discloses estrogenized epithelial cells with no increase in leukocytes (see Fig. 18-5, B). As a general guide, there should be no more than one polymorphonuclear leukocyte for every

vaginal epithelial cell. Neither bimanual nor speculum examinations are necessary unless concurrent symptoms or findings suggest other problems. Treatment consists of reassurance and education.

ETIOLOGIES OF VULVOVAGINAL DISORDERS Noninfectious Vulvovaginitis Noninfectious vulvovaginitis is common in prepubertal children but occurs less frequently after menarche. Clinical findings vary considerably depending on cause. Although the physical findings often are unimpressive, patient and parental concern with the symptoms may be great. In some patients the vulva and vagina appear normal, whereas in others varying degrees of inflammation or irritation are present, at times accompanied by signs of excoriation. Vaginal discharge is unusual, however, and vaginal cultures grow normal or nonspecific flora (Box 18-7). Individuals with underlying dermatologic disorders may be more susceptible to noninfectious causes of vulvovaginitis. Symptoms are similar for most etiologies: perineal itching or pain, external or contact dysuria, and occasionally, vaginal discharge.

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BOX 18-7 

Organisms Thought to Constitute Normal or Nonpathogenic Vaginal Flora AEROBES AND FACULTATIVE ANAEROBES Branhamella catarrhalis Candida albicans and other yeasts* Corynebacterium species Diphtheroids Enterococcus species Escherichia coli Haemophilus species Lactobacillus species Klebsiella species

Mycoplasma species* Neisseria sicca Proteus species Pseudomonas species Staphylococcus species Streptococcus species ANAEROBES Bacteroides species Clostridium species Peptococcus species Peptostreptococcus species

*Candida species as well as Mycoplasma hominis and Ureaplasma urealyticum can constitute normal flora in asymptomatic women; however, they may be responsible for genital tract infections as well.

Treatment consists of removal of the offending agent or causative circumstance along with symptomatic measures. Recommended hygienic practices include providing a sufficient number of opportunities to urinate, using a front-to-back wiping technique, and regular washing with warm water without excessive scrubbing. Products to avoid are listed in Box 18-6. Patients with vulvovaginal inflammation are encouraged to wear loose-fitting clothes and white cotton underwear that is well rinsed after regular washing. Failure to improve should lead to consideration of other etiologies including sexual abuse, and the possibility of nonadherence with treatment. Referral to a clinician with expertise in pediatric gynecologic problems may be indicated. In prepubertal girls, chronic irritation from any cause may predispose the labia minora to agglutinate, resulting in labial adhesions (see Fig. 18-12 and Labial Adhesions, earlier). Urine trapped behind the adhesions after toileting may cause further irritation, helping to perpetuate the condition or causing adhesions to extend. Irritation Related to Hygiene Practices Poor perineal hygiene is one of the most common causes of irritation. Examination typically reveals mild nonspecific vulvar inflammation. Pieces of stool and toilet paper may be seen adhering to the perineum and perianal areas and smegma may be found around the clitoris and labia (Fig. 18-22). Underwear is often soiled. Coliforms tend to predominate on vaginal culture when there is associated vaginal inflammation. In the majority of cases the search for other causes is unrewarding, and symptoms resolve with a regimen of sitz baths and careful cleansing after urination and defecation. Finding a frankly feculent vaginal discharge should lead to the consideration of a rectovaginal fistula. Pubic hair removal has become increasingly common for women and young girls, sometimes starting shortly after pubic hair first appears. Complications of hair removal are common and include razor burn; contact dermatitis from shaving products; mechanical folliculitis; infectious folliculitis (Fig 18-23) commonly from Staphylococcus aureus, Streptococcus pyogenes, and Pseudomonas aeruginosa; and mechanical spread or trigger of viral infections such as human papillomavirus, molluscum contagiosum, and herpes simplex virus. Mild topical corticosteroids and topical antibiotics can be used to prevent and treat folliculitis. Clinicians who commonly encounter these issues should familiarize themselves with the

Figure 18-22  Poor perineal hygiene. Despite prior cleansing by a nurse for a “cleancatch” urine sample, the initial specimen contained numerous white cells and debris. When the perineum was rechecked, the infant was found to have copious amounts of smegma adhering to the clitoris and labia minora and stool on the posterior perineum. Urine obtained after thorough recleansing was normal.

pros and cons and various methods of pubic hair removal (Trager, 2006). Maceration Secondary to Moisture and Chafing Moisture, whether from normal secretions, perspiration, or swimming, when unable to evaporate, promotes maceration and inflammation of perineal tissues. Obesity, wearing tight clothing or tights over nylon underwear, and sitting for long periods in a wet bathing suit or leotard are common predisposing factors to this form of vulvar irritation. Nonspecific inflammation, often with frank maceration, is the predominant physical finding (Fig. 18-24). A history of a chronically wet perineum and the smell of urine on the child’s underclothes should lead the clinician to consider the possibility of urinary incontinence, a vesicovaginal fistula, or ectopic ureter. When maceration occurs, secondary infection is common, and some patients have associated intertrigo (irritant dermatitis where opposing skin surfaces touch). Attention to perineal hygiene and drying, weight loss (when appropriate), avoidance of tight

Figure 18-23  Pubic hair removal. After shaving, this 17-year-old girl developed impetigo, a common and highly contagious bacterial skin infection caused by Staphylococcus aureus. It cleared quickly with the use of oral and topical antibiotics. (Reprinted with permission from Trager JDK: Pubic hair removal—pearls and pitfalls, J Pediatr Adolesc Gynecol 19:117-123, 2006.)

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Figure 18-24  Maceration secondary to poor perineal aeration. This child’s chief complaint was one of dysuria. On examination the inner surfaces of the labia were found to be macerated and mildly inflamed. Adherent smegma is also visible. The child had been wearing tights over nylon underwear.

clothing, use of antichafing products, and treatment of secondary infection are the mainstays of management. Contact Dermatitis, Allergic Vulvitis Allergic vulvitis should be considered in patients whose most prominent symptom is pruritus, although scratching and excoriation may result in secondary burning and dysuria. When patients are seen in the acute phase, inspection of the labia and vestibule reveals a microvesicular papular eruption that tends to be intensely erythematous and may be somewhat edematous. Excoriated scratch marks are common. When the process has become chronic, the vulvar skin has an eczematoid appearance with cracks, fissures, and lichenification. Poison ivy is a common cause, as are the exposures listed in Box 18-6.

Figure 18-25  Nonspecific inflammation characteristic of chemical irritant vulvovaginitis.

antecedent clinical course and findings on examination suggest appendicitis, the presence of vaginal discharge may be a secondary finding rather than a sign of a primary genital infection. Fistulas Because patients with vesicovaginal fistulas and ectopic ureters have a history of a constantly wet perineum they frequently have symptoms of vulvovaginitis. Nonspecific inflammation and maceration are the predominant physical findings

Chemical Irritant Vulvovaginitis Many of the agents listed in Box 18-6 can act as chemical irritants. Before toilet training, children whose diapers are changed infrequently may develop irritation caused by ammonia produced when the organisms in stool split the urea in urine. Itching and dysuria are prominent symptoms, and examination usually discloses mild nonspecific inflammation (Fig. 18-25), at times associated with signs of scratching. On occasion, findings are normal. Diagnosis is dependent on a thorough history (see Table 18-4 and Box 18-6). Frictional Trauma Frictional trauma may be the source of superficial abrasive changes and, when chronic, may result in lichenification or even atrophic skin changes (Fig. 18-26). Wearing tight clothing, certain sporting activities (especially gymnastics and long-distance cycling and running), sand from sandboxes, and excessive masturbation are the major predisposing factors. Pelvic Appendiceal Abscess Girls with appendicitis may develop a purulent vaginal discharge caused by sympathetic inflammation of the vaginal wall. On microscopy the discharge contains numerous leukocytes, epithelial cells, and mixed flora (Fig. 18-27). When the

Figure 18-26  Frictional trauma. This patient’s labial skin shows nonspecific thickening and mild irritation. She had a history of recurrent vaginal foreign bodies and was strongly suspected to be a victim of chronic sexual abuse. (Courtesy K. Sukarochana, MD, Pittsburgh, Pa.)

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prepubertal patients, and necrotic tumors, which can produce a discharge that is clinically indistinguishable from that of a vaginal foreign body.

COMMON PERINEAL CONDITIONS Urethral Prolapse

Figure 18-27  Sympathetic purulent vaginal discharge. This photomicrograph shows numerous leukocytes and epithelial cells, with mixed flora. The 4-year-old patient had a history of vomiting, anorexia, abdominal pain with marked right lower quadrant and pelvic tenderness, and a purulent vaginal discharge and was found to have a pelvic appendiceal abscess. The vaginal discharge was the result of sympathetic inflammation.

Urethral prolapse is often mistaken for vulvovaginitis or perineal trauma. Dysuria, perineal pain, and bleeding are the most frequent symptoms. The phenomenon is more prevalent among African-American and obese prepubertal school-age girls. Increased intraabdominal pressure often precipitates the prolapse of the urethra through the urethral meatus. Constipation, especially when chronic; coughing; and crying may all contribute. The classic physical finding is a red or purplish red, swollen, and friable piece of tissue lying over the anterior introitus (Fig. 18-28). It often has a doughnut shape and is tender. With optimal positioning and careful visualization, the clinician can see that it encircles the urethral meatus. Because the urethral mucosa is responsive to estrogen, application of

(see Fig. 18-24). Rectovaginal fistulas can also cause vulvovaginal inflammation, but the presence of a grossly feculent vaginal discharge usually makes diagnosis relatively easy. When a rectovaginal fistula is neither congenital nor posttraumatic in origin, or when a perianal fistula is found, inflammatory bowel disease should be considered (Chapter 10). Vaginal Foreign Body The hallmark of a vaginal foreign body is the presence of a profuse, foul-smelling, brownish or blood-streaked vaginal discharge. However, some children have a less dramatic presentation with a yellow, mildly purulent discharge. The majority of patients are in the 3- to 8-year-old age group. Some have developmental delay or other psychosocial and behavioral problems. When a prepubertal patient is found to have a vaginal foreign body, it is important to obtain a detailed behavioral history of the child in addition to a family psychosocial history because the problem often is recurrent and may be the result of disturbed behavior by the patient or of chronic sexual abuse. Wads of toilet tissue, paper, cotton, crayons, and small toys are the materials found most often; however, all types of small objects have been retrieved. There may be a long noninflammatory latency period for inert materials. The objects most commonly found in adolescents are forgotten tampons or retained condoms. Retained tampons or condoms are usually evident by a pungent odor, which may be the presented complaint. Careful visual and manual inspection in the adolescent patient may locate the offending agent. Removal manually or with an alligator forceps is usually curative, but antibiotic treatment may be considered in the presence of a purulent discharge. Suppositories or substances inserted for therapeutic purposes, or objects used in sexual activity may also cause problems. Objects made of hard materials may be palpable on rectal examination. Radiographs are rarely necessary because direct vaginoscopy is almost always required. Results of wet preparation and culture are nonspecific. Vaginoscopy is diagnostic and, when tolerated, it provides access for extraction, which is curative. In the prepubertal age group, it is best accomplished under general anesthesia or conscious sedation. Major differential diagnostic considerations for a brownish/ bloody vaginal discharge are Shigella vaginitis, seen in

A

B Figure 18-28  Urethral prolapse. A, This child had acute complaints of bleeding and dysuria. The prolapsed urethral mucosa is red, friable, and has a doughnut shape encircling the urethra. B, In another patient the prolapsed mucosal tissue is thickened and erythema is less prominent. (A, Courtesy John McCann, MD, University of California at Davis, Davis, Calif.; B, courtesy Carole Jenny, MD, Hasbro Children’s Hospital, Providence, R.I.)

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A

B

C

Figure 18-29  Lichen sclerosus. A, The skin overlying the labia majora has become atrophic and appears pale and thin. It is dotted with small, superficial ulcerations. B, In this child with complaints of bleeding and pruritus, skin breakdown is evident along with petechial hemorrhages. C, A pruritic, atrophic, eroded, hypopigmented patch involving the anogenital skin and mucous membranes in this 5-year-old girl has an hourglass configuration. (C, From Cohen BA: Pediatric dermatology, ed 2, London, 1999, Mosby.)

estrogen cream twice daily usually results in resolution. Oral analgesics and topical antibacterial and/or anesthetic creams provide symptomatic relief. Treatment of underlying causes reduces the risk of recurrence.

with white streaks on the vulva, but more typically the rash is violaceous.

Lichen Sclerosus

The appearance of an acute genital ulcer in a girl can create alarm and distress in both the patient and her parents. The differential diagnosis is broad (Bandow, 2010) and includes infectious and noninfectious causes. Herpes simplex virus (HSV) is the most common infectious cause and both HSV type 1 and type 2 can be spread via nonsexual transmission by caregivers or from autoinoculation. Noninfectious causes include autoimmune or other systemic illness, drug reactions, and aphthous ulcers. A thorough history and physical is warranted, with particular attention to excluding underlying systemic conditions (such as HIV infection, Behçet disease, or Crohn disease) and identifying recent viral infection or other triggering factors such as tight-fitting clothing, sexual activity, or abuse. When such factors are absent, and lesions are characteristic, vulvar aphthae are a likely cause. The typical location of vulvar aphthous ulcers is the medial labia minora (often on apposing labial surfaces as “kissing” lesions), but other sites include the vagina, introitus, fourchette, labia majora, and perineum. Appearance varies, but aphthous ulcers tend to be deeper than ulcers caused by HSV, and typically appear well demarcated with a necrotic base and ragged margins (Fig. 18-30, A and B). Lesions may be covered by yellow-gray exudate or by eschar, and surrounding inflammation with or without cellulitis can occur. Evaluation should include HSV culture, or preferably polymerase chain reaction (PCR) assay, from the lesion, and serum IgG and IgM antiviral capsid antigen for Epstein-Barr virus. Beyond that, a large laboratory workup is rarely informative and should be based on the history and examination, including a comprehensive evaluation for STI when indicated. Bacterial and fungal cultures tend not to yield pathogens and biopsy is rarely indicated. Vulvar aphthous ulcers are generally self-limited, resolving in 2 to 3 weeks. However, treatment with a topical steroid such as 0.05% clobetasol ointment twice daily for 7 to 10 days is recommended. Patients with milder symptoms can be managed as outpatients with supportive care including sitz baths, barrier agents such as sucralfate, and/or topical anesthetics such as combined lidocaine, epinephrine, and

Lichen sclerosus is a chronic dermatologic disorder of unknown etiology that involves primarily the perineum and perianal area in prepubertal girls. It begins insidiously, sometimes preceded by perineal itching and occasionally by a mild watery discharge. At first there may be no readily visible signs, and symptomatic treatment is often prescribed to no effect. Eventually small pink or white, flat-topped papular lesions appear on both cutaneous and mucosal surfaces, and these coalesce to form larger plaque-like lesions that may have scaly surfaces. Vesiculation may occur followed by superficial ulceration or excoriation with increased erythema, maceration, and punctate bleeding (Fig. 18-29, A). The latter occurs especially when pruritus incites rubbing or scratching (Fig. 18-29, B). With progression, the involved epithelium becomes thin, atrophic, and hypopigmented. When both the vulvar and perianal areas are affected, the distribution has been likened to an hourglass or a figure-eight (Fig. 18-29, C). On resolution of active lesions, the involved area is characterized by confluent, white, atrophic patches with a shiny surface. The disorder tends to wax and wane over one to several years, often resolving around puberty. Acute exacerbations, which are often precipitated by local irritation or trauma, respond best to very short-term treatment with an ultra high–potency topical steroid ointment. Although lichen sclerosus is common in prepubertal girls and rare in adolescence, topical hormone preparations have not been found to be effective. Diagnosis generally can be made on clinical grounds, although some atypical cases may require dermatologic consultation and possibly a biopsy. When ulcerations and bleeding are present, concerns regarding sexual abuse may arise. The pattern and distribution of lesions, their failure to heal rapidly, and the chronicity of the disorder help distinguish it from abrasions and lacerations due to abuse. In vitiligo, which may have a similar distribution when present in the anogenital area, the involved skin is totally devoid of pigment but is otherwise normal (i.e., not atrophic or inflamed) in appearance. In the adolescent lichen planus may present similarly

Acute Genital Ulcers

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A

Figure 18-30  Genital ulcers. A, Vulvar aphthous ulcer in a teenage girl. B, Vulvar aphthous ulcer with exudate. (Reprinted with permission from Bandow GD: Diagnosis and management of vulvar ulcers, Dermatol Clin 28:753-763, 2010.)

tetracaine. However, pain can be severe and hospitalization may be required with Foley catheterization to manage dysuria, antibiotics to treat associated cellulitis, and narcotics to treat pain. Families can be reassured by the comparison of vulvar aphthae to common “canker sores” and by the fact that recurrence and long-term sequelae are uncommon. The likelihood of scarring depends on the size and duration of the original lesions. Follow-up should be weekly until resolution and then yearly to monitor for progression to systemic disease such as Behçet disease, which is a systemic disease characterized by recurrent oral aphthae and associated genital, eye, and skin findings.

Infectious Vulvovaginitis In contrast to most of the primarily noninfectious forms of vulvovaginitis, vaginal discharge is usually a prominent symptom of infectious vulvovaginitis in all age groups. Although a few pathogens produce a fairly characteristic clinical picture, most do not, the symptoms and discharge seen with many pathogens being relatively nonspecific. Furthermore, in the case of sexually transmitted infections (STIs), more than one pathogen may be present. For these reasons, careful attention to specimen collection technique is important. There are two major subgroups of vulvovaginal infections. In the first subgroup genital involvement is secondary to a systemic infection or the result of transfer of the pathogen from another primary site such as the skin or the respiratory, gastrointestinal, or urinary tract via contaminated fingers or proximity (see Table 18-5). Infection at the primary site may precede or coexist with the genital infection, and in some cases colonization of another site, without overt infection, appears to predispose. This nonvenereal infectious vulvovaginitis is common in prepubertal patients but is rare in adolescents because the mature female genital tract does not support growth of most of these pathogens.

B

The second subgroup of infectious vulvovaginitis consists of those infections caused by sexually transmitted pathogens (see Tables 18-5 and 18-6). Both prepubertal and postmenarchal patients can have vulvovaginitis when infected with these organisms. After puberty, however, patients can have other clinical presentations as well, including cervicitis, endometritis, and salpingitis. Table 18-6 enumerates the possible clinical features seen in adolescent girls with STI and summarizes other major epidemiologic characteristics and appropriate diagnostic measures. Regardless of age, the most frequent mode of transmission of STI is sexual contact. The majority of these infections in prepubertal patients are the result of sexual abuse. (see Chapter 6). Hence, when STI is found in the prepubertal child, the possibility of sexual abuse must be investigated. In adolescence, consensual sexual activity is the major mode of infection by sexually transmitted pathogens, although sexual exploitation and abuse remain significant possibilities. These factors necessitate obtaining a confidential history of sexual activity and case finding of sexual partners. The presence of one STI in any child or adolescent should prompt investigation for others because infection with multiple organisms is common (see Genital Infections Caused by Sexually Transmitted Pathogens, later).

Infectious Vulvovaginitis Caused by Nonsexually Transmitted Pathogens Vulvovaginitis Caused by Respiratory and/or Skin Pathogens Bacterial respiratory pathogens can cause vulvovaginitis in prepubertal patients, presumably as a result of orodigital transmission. Streptococcus pneumoniae and other respiratory flora can cause purulent vaginal discharge, with associated vulvitis and vaginitis, either after or concurrent with upper respiratory tract infection. The respiratory pathogen most commonly identified as a cause of vulvovaginitis is group A

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A

B

Figure 18-31  Streptococcal vulvovaginitis. A, In this child who had acute vulvar pain, dysuria, and discharge, the area of inflammation is sharply circumscribed and extends from the vulva to the perianal area. B, In another patient, who presented late in the course of a case of scarlet fever, vulvar inflammation is still evident and desquamation has begun.

β-hemolytic streptococci. This infection may be associated with streptococcal nasopharyngitis or scarlet fever, or it may occur in apparent isolation, although a throat culture is often positive for streptococci even in the absence of pharyngeal or upper respiratory symptoms. Rapid testing for streptococci from the perineal tissues is not approved by the U.S. Food and Drug Administration (FDA), but may be positive in these cases. The onset of vulvovaginal symptoms is abrupt, with severe perineal burning and dysuria. Inspection reveals a sharply circumscribed area of intense erythema involving the vulva, distal vagina, and perianal area (Fig. 18-31, A). The involved skin may weep serous fluid. Most patients have a serosanguineous or grayish-white vaginal discharge, and about one third have vaginal petechiae. Culture of perineal skin and/or discharge is positive. Desquamation ensues with recovery (Fig. 18-31, B; and see Fig. 18-6). Impetigo and folliculitis may occur in the vulvar area of patients of any age, usually secondary to poor hygiene, excessive sweating, shaving, or mechanical irritation. Simultaneous involvement of the buttocks or other skin sites is common (see Chapter 12). Some young women with increased androgens, children with a familial predisposition to keratosis pilaris, and patients with Down syndrome may be especially prone to develop folliculitis and/or impetigo (see Fig. 18-23). Systemic viral infections have also been linked to vulvovaginitis in young children. The specific agent is rarely identified and the course is typically self-limited. Vulvovaginitis Caused by Gastrointestinal Pathogens Escherichia coli Escherichia coli is a frequently identified bacterial cause of vulvovaginitis in prepubertal patients. Treatment with cefixime is frequently sufficient to eradicate the symptoms and discharge. Alternatively, culture and sensitivity may guide antibiotic choice. Shigella A distinct, although uncommon, form of vulvovaginitis caused by Shigella species has been recognized in prepubertal patients. The majority have no overt gastrointestinal symptoms,

although approximately one third have had associated diarrhea. The predominant complaint is one of an acute or chronic vaginal discharge. A greenish brown, often blood-streaked, purulent, and foul-smelling vaginal discharge is seen on inspection, along with vulvar and vaginal erythema. A positive culture is diagnostic, but enteric-specific bacteriologic transport and culture media must be used. A high rate of coinfection with pinworms has been reported. Pinworms Intestinal infestation with pinworms (Enterobius vermicularis) is associated primarily with perianal pruritus. However, the worms may crawl forward into the vagina, bringing enteric flora with them and depositing eggs. In some cases vaginal infection and discharge may result. Scratching may produce excoriation and secondary dysuria. A history of preceding perianal pruritus generally is elicited. Inflammatory changes are nonspecific. Pinworm ova and/or adult worms may be found on wet mount examination of vaginal secretions (Fig. 18-32). In the occasional patient with associated vaginal discharge, culture is positive for enteric pathogens. When pinworm infestation is suspected despite negative vaginal smears, a perianal sample should be obtained (see Table 18-2). Alternatively, empiric treatment with mebendazole according to standard guidelines may be instituted. Candida Vulvovaginitis Candida species are one of the more common sources of nonvenereal infectious vulvovaginitis after puberty. This is rare in the healthy prepubertal child. Predisposing factors, common complaints, and clinical features are listed in Table 18-6. Examination of the vulva usually reveals diffuse erythema (Fig. 18-33, A); with chronic involvement, white or pink cobblestoned plaques on an erythematous base may be seen. Excoriations from scratching and satellite lesions on the perineum are also common. In some cases, signs of perianal dermatitis and intertrigo are found. Thick creamy or cheesy discharge is often present. In adolescents whitish plaques may adhere to the vagina or cervix (Fig. 18-33, B). A KOH or wet preparation confirms the presence of yeast and often an increase in inflammatory cells

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with apparent persistent or recurrent Candida infection. This will provide diagnostic specificity and guide the choice of antifungal treatment.

Genital Infections Caused by Sexually Transmitted Pathogens

A

B Figure 18-32  Pinworms (Enterobius vermicularis). On this wet mount (A) a mature worm is shown surrounded by eggs, which are shown more clearly at higher power (B). Patients with intestinal infestation may have vulvovaginal symptoms as a result of scratching and excoriation or migration of the worms into the vagina.

(Fig. 18-33, C and D). Topical application of an azole antifungal cream into the lower vagina, or single-dose oral fluconazole, is the treatment of choice. Single-dose oral regimens are less efficacious but are simple and may be more reliable when problems with compliance are an issue. In sexually active adolescents, careful consideration must be given to the possibility of pregnancy before prescribing medication. In patients with recurrences, predisposing factors, such as medications and human immunodeficiency virus (HIV) infection, should be considered. An infected male partner with subacute or chronic monilial balanitis rarely may be the source of recurrences in sexually active patients. This infection generally is not transmitted sexually, and treatment of the partner does not decrease recurrence rates. Other fungal species such as Torulopsis may also cause vulvovaginitis. Clinical presentation tends to be similar to that of Candida, but under microscopy these organisms do not demonstrate the classic branching morphology seen with Candida. They are often more resistant to first-line antifungal agents, and a fungal culture should be obtained in a patient

Sexually transmitted infections (STIs) are an important cause of short- and long-term morbidity in adolescents (see Table 18-6). Although some infections produce relatively specific clinical findings, many are characterized by nonspecific vulvovaginal inflammation with vaginal discharge, or ulcers. Several pathogens can induce two or three different clinical pictures (or a mixed picture) in adolescents. The major characteristics of the most common STIs are listed in Table 18-7. The high frequency of multiple simultaneous infections necessitates comprehensive laboratory evaluation. It is also important to note that the clinical approach differs considerably between prepubertal and postpubertal patients. Evaluation for Sexually Transmitted Infections Before menarche, lack of estrogenization inhibits ascent of infection to the upper genital tract, and subclinical lower tract infection is uncommon. As a result, external inspection of the perineum and lower vagina and laboratory evaluation of vaginal discharge samples are sufficient for identification of most pathogens and for institution of therapy. This does not complete the assessment, however, because whenever an STI is identified in a prepubertal patient, sexual abuse must be considered as the probable source. This necessitates urgent referral to a team specialized in the assessment of child sexual abuse. (Chapter 6). When evaluating postpubertal patients suspected of having an STI, a sexual history obtained in confidence is essential. Although consensual activity is common in adolescence, patients may be victims of sexual abuse, including incest, sexual exploitation, and date rape. Complaints of pubertal patients with STI include vulvar lesions, vaginal discharge, odor, pruritus, perineal discomfort, and dysuria. There may be associated symptoms of pelvic pain, dyspareunia, fever, and irregular bleeding. A number of pathogens, such as herpes simplex, Trichomonas vaginalis, and human papillomaviruses, cause inflammation of not only the vulva and vagina but also the cervix. Patients infected with N. gonorrhoeae or C. trachomatis may be asymptomatic even in the presence of cervicitis. When symptomatic, they may have bleeding, dysuria, or vaginal discharge; or, with ascent of infection to the upper tract, signs of salpingitis, although this too can be clinically silent (see Tables 18-6 and 18-7). Neisseria gonorrhoeae and C. trachomatis also infect the columnar epithelium of other genital sites, including the Bartholin glands, the urethra, and the rectum. A complete pelvic examination is desirable when evaluating adolescents for vulvovaginal complaints and possible STIs. At a minimum this includes inspection of the perineum, collection of vaginal samples for microscopy and the laboratory, and a careful bimanual examination. Cervical motion, or adnexal or uterine tenderness, during the bimanual examination suggests the diagnosis of PID (see Pelvic Inflammatory Disease, later). Consideration should be given to use of a speculum to inspect the vaginal walls and to obtain a vaginal specimen for microscopy that is not contaminated by cervical secretions. A speculum also permits examination of the cervix for the presence of mucopurulent discharge, erythema, focal lesions, bleeding, and friability. Some clinicians advocate collection of a urethral specimen that can be pooled with the vaginal or cervical specimen as a way to enhance

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A

B

C

D

Figure 18-33  Candida vulvovaginitis and cervicitis. A, The vulva is intensely hyperemic, and a thick, cheesy, white discharge covers the urethra, introitus, and hymenal area. B, Whitish plaques may be seen on the perineum and vaginal mucosa and occasionally on the cervix in adolescents. C and D, These low- and high-power wet mount specimens contain pseudohyphae and budding yeast. (A, Courtesy B. Cohen, MD, Johns Hopkins Hospital, Baltimore, Md.; B and D, courtesy Ellen Wald, MD, University of Wisconsin Children’s Hospital, Madison, Wis.)

detection. Sexual partners should be evaluated and treated whenever an STI is identified; otherwise, reinfection is probable. Adolescent girls with asymptomatic cervical infections may serve as silent reservoirs of sexually transmitted pathogens. This phenomenon is quite significant in the epidemiology of STIs. Hence, female partners of men known to have gonorrhea, Chlamydia, or nonspecific urethritis should be evaluated and treated appropriately. The patient and partner(s) must be advised to abstain from sexual intercourse until the course of treatment is completed by all. In the case of single-dose regimens, abstinence should be practiced for 7 days after the partners begin treatment. They also should be seen for follow-up in 3 months to test for reinfection, and thereafter at least every 6 months for STI surveillance because of the significant incidence of another (often subclinical) infection. The importance of aggressive case finding, diagnosis, and treatment of both infected patients and their partners cannot be overemphasized because of the potential for spread to others and major sequelae that include ectopic pregnancy, infertility, and chronic pelvic pain as a result of smoldering or recurrent upper genital tract disease. Finally, it is the clinician’s responsibility to provide education regarding STIs. Patients should clearly understand how the disease was contracted and how to prevent recurrence. Use of condoms should be emphasized at every opportunity. Education includes discussion of responsible sexuality, including abstinence, use of contraceptives, and safer sex practices, as appropriate to the patient.

Surface Infestations and Perineal Lesions Parasitic Infestations Two parasitic infestations—scabies and pubic lice—may be transmitted via sexual contact. Both produce symptoms of vulvar and inguinal pruritus and irritation accompanied by finding dark specks of parasite feces on underwear or blood caused by excoriation from scratching. Sexual transmission is more likely in adolescents than in young children, who may acquire the parasites by close nonsexual contact. Development of pubic hair is necessary for the acquisition of pubic lice. Meticulous inspection of the pubic area for nits and adult lice (“crabs”) may be necessary to discover early infestations. The clinical findings of both disorders are presented in Chapter 8. Human Papillomavirus HPV has emerged as the most prevalent sexually transmitted pathogen found in adolescent girls. Genital warts, also called condylomata acuminata, are no longer regarded as an isolated nuisance, but rather as one manifestation of a spectrum of lower genital tract diseases caused by HPV. The virus plays a causative role in the development of cervical intraepithelial neoplasia (CIN) and dysplasia (atypical squamous cells of undetermined significance, or ASC-US; low-grade squamous intraepithelial lesions, or LSIL; and high-grade squamous intraepithelial lesions, or HSIL), and similarly carcinoma of the cervix and of other genital tissues in both men and women. Although cervical cytology screening is not indicated in immunocompetent patients under 21, when performed, the presence

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Table 18-7

Major Characteristics of the Most Common Sexually Transmitted Diseases and Diagnostic Measures Trichomonas

Gonorrhea

Vulvar, vaginal, Treatment resistant or cervical, unusually severe perineal, and presentation of perianal Candida, HPV, HSV, condylomata or molluscum and flat contagiosum warts

Vaginitis, vulvitis, vaginal and/or cervical petechiae, profuse watery discharge

3-14 d

On average 1-3 mo (variable, up to 2 yr)

3-30 d

May be normal; Often normal; Primary—vulvar, cervicitis, salpingitis, cervicitis, vaginal, or urethritis, salpingitis, cervical occasionally urethritis, chancre; proctitis, proctitis; vaginitis secondary— pharyngitis; and vulvitis in condylomata vaginitis and vulvitis prepubertal girls lata of vulva; in prepubertal girls generalized exanthem 2-7 d 7-21 d Primary: 15-90 d; secondary: 6 wk-6 mo; tertiary: 2-20 yr

75%-80% with active infection

60%-70%

HSV

HPV

Clinical findings

May be normal; vulvar vesicles or ulcers, vulvitis, vaginitis, cervicitis

Incubation period

Infectivity

Duration

Primary outbreak 2-3 wk; recurrent outbreak 7-12 d; latent infection indefinitely Recurrence 60% (HSV-1); 90% (HSV-2) within 1 yr Routine Culture, antigen diagnostic testing, techniques serology Antenatal or Yes—can cause perinatal skin, CNS, and transmission disseminated infection Partner evaluation

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Inspection

HIV

Acute flulike viral illness: several weeks; AIDS: variable—up to 10 yr Varies with infecting behavior

70%-90% for M/F transmission, less for F/M

Variable; often, Acute infection Self-limiting in persistent (2-3 wk); many males; clinical asymptomatic phase persistent in lesions and (months); most females subclinical symptomatic HIV until treated infection (months–years); AIDS (months–years) Variable Persistence With reinfection Inspection

ELISA, Western blot antibody test

Yes—can cause Yes, and postpartum laryngeal via breast milk papillomas and perineal lesions Inspection ELISA, Western blot antibody test

Wet prep, NAAT, culture

Chlamydia

100% M/F; 25% F/M

45% M/F

Until treated

Until treated

With reinfection

With reinfection

NAAT, cervical, NAAT, culture* pharyngeal or rectal culture* Yes—may have Yes—can cause Yes—can cause neonatal vaginal conjunctivitis, conjunctivitis discharge or septicemia, and/or asymptomatic meningitis pneumonia colonization Antimicrobial Diagnostic tests as Diagnostic tests as treatment above and above and antimicrobial antimicrobial treatment treatment

Syphilis

10%, single encounter; 30%, after 1 mo of sexual activity with an infected partner Primary: 2-6 wk; secondary: 2-6 wk, may recur; tertiary: persists until treated With reinfection Serology, dark-field microscopy Yes, and postpartum via breast milk Serologic and clinical, antimicrobial treatment

*In prepubertal girls, culture discharge for gonorrhea, vaginal wall for Chlamydia. AIDS, acquired immunodeficiency syndrome; F/M, female to male; HPV, human papillomavirus; HSV, herpes simplex virus; M/F, male to female; NAAT, nucleic acid amplification test.

of abnormalities on either standard Pap or liquid-based cytology suggests infection with HPV. Transmission of HPV is usually via sexual contact in adolescents. Passage to neonates during delivery also has been documented and can result in subsequent development of laryngeal papillomata and perineal lesions. Vaginal involvement is uncommon in the prepubertal child, but when present, is often accompanied by a vaginal discharge. The incubation period is variable and ranges from 1 to 24 months (see Table 18-7). Condylomata may emerge after subclinical, acute, or chronic nonspecific vulvovaginal inflammation incited by the virus. In most cases the lesions are asymptomatic, although pruritus is reported by some patients. However, when the warts are traumatized or become secondarily infected, pain may be a complaint. A rapid increase in warty tissue may be associated with diabetes, pregnancy, or HIV infection. In general, the warts appear as fleshy, rounded, or ragged papules often located at the posterior edge of the introitus and/or in the perianal region. Lesions may be discrete early on (Fig. 18-34, A), but with evolution tend to become confluent (Fig. 18-34, B). The warts can also be flat or even clinically unapparent to the naked eye. Although most lesions involve the perineum and perianal areas, vaginal and cervical

involvement are also common in adolescents (Fig. 18-34, C). The virus can also infect other mucous membranes, including the anus, urethra, mouth, larynx, and conjunctiva. Clinical diagnosis is made by careful inspection of the external genitalia, vagina, cervix (in adolescents), and perianal areas for visible warts. A negative serologic test for syphilis helps differentiate HPV disease from the condylomata lata of secondary syphilis. Molluscum Contagiosum The sharply circumscribed, waxy, papular, umbilicated lesions of molluscum contagiosum, caused by a poxvirus, can be spread as a result of sexual contact, in which case lesions are found predominantly on the labia, mons pubis, buttocks, and lower abdomen. This mode of spread is much more likely in the adolescent than in the young child. The clinical characteristics of molluscum lesions are presented in Chapter 8. Syphilis Syphilitic Chancre.  Primary syphilis should be considered in any patient with a genital ulcer (Fig. 18-35). Most involve the genitalia, and in women they tend to be found more often on the cervix or vaginal walls than on the labia. Both external

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A

B

C

Figure 18-34  Condylomata acuminata. These sexually transmitted viral warts (A) tend to be discrete early on, but with evolution become confluent (B). Adolescents have a significant risk of developing vaginal and cervical lesions (C). (A and C, Courtesy E. Jerome, MD; B, courtesy M. Sherlock, MD, Lutherville, Md.)

and internal lesions are painless and tend to go unnoticed unless a young woman happens to undergo pelvic examination while they are present. Hence, active syphilis in women often goes undiagnosed until the secondary stage of the disease. Although a single lesion is typical, multiple chancres are seen in some cases. The chancre usually appears 3 to 4 weeks (up to 3 months) after inoculation with Treponema pallidum and is accompanied by inguinal adenopathy. Involved nodes are firm, mobile, and nontender. Because atypical lesions are common, all suspicious ulcers should prompt investigation by dark-field examination of scrapings from the base of the ulcer or of material aspirated from an enlarged regional node. Prior application of topical antibiotic ointment to a chancre can give false-negative results with ulcer scrapings. Reagin serologic tests (Venereal Disease Research Laboratory [VDRL] or rapid plasma reagin [RPR]) usually become positive within 1 to 2 weeks after the appearance of the chancre and are uniformly elevated after 1 month. Positive reagin tests should always be confirmed by a serologic test for fluorescent treponemal antibody. Left untreated, chancres heal spontaneously in 3 to 8 weeks, but the infection persists. Secondary Syphilis.  In the absence of early diagnosis and treatment, hematogenous spread occurs approximately 1 to 3 months after the appearance of the primary chancre, whereupon the lesions of secondary syphilis appear. These are accompanied or preceded by generalized adenopathy and often are associated with systemic flulike symptoms of fever, headache, malaise, arthralgia, sore throat, and rhinorrhea.

Figure 18-35  Primary syphilis. The syphilitic chancre begins as an erythematous papule that erodes centrally. It is typically painless and indurated on palpation, with a smooth base and rolled margins [Courtesy The Centers for Disease Control and Prevention Public Health Image Library (PHIL).]

The rash generalizes rapidly, has a symmetrical distribution, and involves the palms and soles. The lesions usually take the form of reddish brown maculopapules, although commonly they are papulosquamous (Fig. 18-36, A). Follicular and pustular lesions also may be seen, making secondary syphilis the “great mimicker.” They range in size from a few millimeters to 1 cm and can be round or oval. On occasion they clear centrally, becoming annular. As in pityriasis rosea, for which the rash is often mistaken, they are frequently oriented along lines of skin cleavage. Moist papules, called condylomata lata, are found in the genital folds, gluteal cleft, and over the medial surfaces of the upper thighs (Fig. 18-36, B). These papules often resemble small mushroom caps or have a warty appearance with a pinkish gray color and range in size from 1 to 3 cm. Many patients develop an associated patchy alopecia. Mucosal lesions, termed mucous patches (Fig. 18-36, C), appear as centrally eroded, grayish white plaques 0.5 to 1 cm in diameter and can be found on all mucosal surfaces. Condylomata lata and mucosal lesions teem with organisms and are thus highly infectious and are ideal sites for obtaining specimens for dark-field examination. Serologic tests are positive at this stage. The rash persists for 1 to 3 months if untreated and then clears spontaneously, marking the beginning of a period of latency in which the organism persists in multiple tissues with the potential for causing tertiary disease years later. Bartholin Gland Abscess Bartholin gland abscess presents as a unilateral red, hot, tender mass at the posterior margin of the introitus at the base of a labium majorum (Fig. 18-37, A and B). It is generally seen in adolescents with gonorrhea, but it can occur in younger patients infected with gonococci, and it is increasingly associated with Chlamydia. When such a mass is encountered, material expressed from the abscess should be cultured because other agents such as streptococci and vaginal anaerobes have also been documented as pathogens. A full evaluation for STIs may be necessary for organism identification. Treatment is based on diagnostic testing results. Often incision, drainage, and packing or placement of a Word catheter are required. Less commonly, abscesses can occur more anteriorly, originating in the periurethral or Skene glands. Lower Tract Disease A number of STIs that present as vulvovaginitis in the prepubertal patient produce findings limited to the lower genital tract (e.g., vaginitis and cervicitis) in the adolescent. A

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A

B

C Figure 18-36  Secondary syphilis. A, This adolescent had flulike symptoms and a generalized papulosquamous eruption involving the palms and soles. B, In another patient, the characteristic moist papules of condylomata lata are seen over the vulva and the medial thighs. C, Mucosal lesions were also prominent. The systemic symptoms, mucosal lesions, and involvement of palms and soles helped distinguish the eruption from that of pityriasis rosea, with which it is commonly confused. (A and C, Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.; B, courtesy J. Pledger, The Centers for Disease Control and Prevention, Philadelphia, Pa.)

discussion of these infections follows. Upper tract manifestations are discussed later in Pelvic Inflammatory Disease. Genital Herpes Type 2 and, less commonly, type 1 herpes simplex viruses have been confirmed as genital pathogens in both pubertal and prepubertal girls. In adolescents, genital infection is acquired almost exclusively by sexual or intimate contact with infected mucosal surfaces. In postpubertal patients with vulvar herpetic lesions, further evaluation for simultaneous STIs is warranted. In prepubertal children, vulvar involvement can also result from sexual contact or by spread from another infected site, such as the lips, mouth, or a herpetic whitlow. It can also be acquired from parents with herpes labialis who fail to wash their hands properly before changing diapers or assisting young children with toileting. Most infections are symptomatic, but occasionally infected individuals have no symptoms. An antibody response, with or without symptoms, can be produced within a few days (see Table 18-7). Patients with primary infection frequently have systemic symptoms of fever, malaise, and myalgia, in addition to severe

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perineal pain and dysuria. Tender inguinal adenopathy usually is prominent but may not develop for several days. Perineal inspection reveals single or clustered vesicular lesions and/or ulcers on erythematous and edematous bases (Fig. 18-38, A). Acute ulcerations are typically covered by yellow exudate and may be extensive (Fig. 18-38, B). A copious, foul-smelling, watery yellow vaginal discharge may be seen, as well. Associated sterile pyuria may be a feature. Dysuria may be so severe as to cause acute urinary retention. The ulcerative phase gradually resolves as lesions heal within a period of 14 to 21 days. After primary infection, a persistent subclinical infection is established in the lumbosacral ganglia. Viral culture of a fresh and ideally vesicular lesion usually is confirmatory within a few days and is the diagnostic test of choice. Serum confirmation of type 1 or 2 infection is possible, but does not influence treatment decisions. Clinical suspicion is the usual indication for initiating antiviral therapy, as the earlier it is begun the more efficacious it is likely to be. Recurrences are common and generally are milder, of shorter duration, and only locally symptomatic. Possible triggers of recurrence include fever, menstruation, emotional stress, and friction. On occasion, prodromal tingling, pain, burning, or hyperesthesia is noticed in the area where vesicles ultimately recur. The interval between episodes varies widely. Trichomonas Infection Trichomonas vaginalis is a flagellated protozoan. It has been found in the vaginal discharge of neonates delivered of mothers infected at the time of delivery, but thereafter it tends to be an unusual finding until the peripubertal period. This is thought to be due to the alkaline environment of the unestrogenized vaginal mucosa, which is unfavorable for growth of the organism. Beyond the neonatal period it is acquired almost exclusively by sexual contact, often in concert with other STIs. However, trichomonads can live on warm, moist surfaces outside a living host for up to 45 minutes. Hence, transmission via fomites is possible although infrequent. Although infection can be asymptomatic in adolescents, symptomatic patients have vulvar pruritus, burning, and dysuria, in association with a profuse vaginal discharge that may be watery, yellowish gray, or green. Some affected adolescents may complain of pelvic pain or heaviness. On inspection the vulva may be hyperemic and edematous, but the degree of inflammation is highly variable. Because the discharge is profuse, it may be present on the perineum (Fig. 18-39, A). It pools in dependent portions of the vagina and coats the vaginal walls (Fig. 18-39, B). The vaginal mucosa is erythematous, and vaginal tenderness and petechiae may be noted (Fig. 18-39, C). This organism does not routinely ascend to infect the upper genital tract. Diagnosis is confirmed by finding motile trichomonads on microscopic examination of a saline wet mount (Fig. 18-39, D), but this may be positive in only 50% to 60% of infections. On close observation, whiplike flagellar movements are noted. Leukocytes are usually present in increased numbers and may surround the organisms, making detection more difficult. Test yield may be increased by warming the saline solution to body temperature, and diluting a densely cellular discharge may make it easier to see the organisms moving. The slide must be examined soon after preparation because drying makes it uninterpretable. A mildly positive whiff test (release of amine odor on addition of 10% KOH to a drop of discharge) is also common. Trichomonads may also be found in urine specimens. An elevated vaginal pH may also support diagnosis. Trichomonas can also be diagnosed by culture or NAAT performed on a vaginal swab. Oral metronidazole is effective for treatment; intravaginal metronidazole does not have sufficient absorption to reach the

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Clitoris

Urethral opening

Labia minora

Skene’s gland and duct

Vestibule

B

Vaginal opening Bartholin’s gland and duct

Figure 18-37  Bartholin gland abscess. A, Bartholin and Skene gland anatomy. B, This peripubertal child has a gonococcal Bartholin gland abscess with associated vulvar inflammation, edema, and a purulent vaginal discharge. (From Omole F, Simmons BJ, Hacker Y: Management of Bartholin duct cyst and gland abscess, Am Fam Physician 68:135-140, 2003.)

A

A

B

Figure 18-38  Herpes simplex. A, This prepubertal child had intense dysuria, perineal pain, and numerous vesicular lesions, a few of which have ulcerated, over her perineum. B, The full-blown ulcerative phase of herpetic vulvitis is seen in this adolescent patient.

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A

B

C

D

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Figure 18-39  Trichomonas infection. A, Trichomonas vaginalis produces a profuse foul acrid-smelling thin discharge that often is visible on perineal inspection. B, In some cases it is homogeneous, and in others it is bubbly as shown here. Vulvar pruritus is often intense. C, The vaginal mucosa is inflamed and often speckled with petechial lesions. In adolescents, petechial hemorrhages may also be found on the cervix, resulting in the so-called strawberry cervix. D, Microscopic examination of a wet mount reveals motile trichomonads. (A and C, Courtesy Ellen Wald, MD, University of Wisconsin Children’s Hospital, Madison, Wis.; B, courtesy Harold C. Wiesenfeld, MD, CM, Magee-Womens Hospital of the University of Pittsburgh Medical Center, Pittsburgh, Pa.; D, courtesy Jill Huppert, MD, MPH, and Joel Mortensen, PhD, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio.)

multiple sites of trichomonal infection, including the urethra and Skene glands. Tinidazole is used when metronidazole fails or organisms are known to be resistant. Sexual partners usually are asymptomatic carriers of small numbers of organisms, but occasionally have symptoms of urethritis. Whether symptomatic or not, they should be treated to avoid subsequent transmission. Bacterial Vaginosis Bacterial vaginosis (BV) is a noninflammatory condition that is not sexually transmitted but is associated with sexual activity and STI, and is more common among African-American women and those practicing unprotected sexual intercourse. It represents a disturbance in the vaginal ecosystem with an overgrowth of multiple species of anaerobic bacteria and a corresponding decrease in lactobacilli. The overall concentration of bacteria increases 100-fold. The condition is associated with an increased frequency of preterm labor, and possibly with increased incidence of pelvic inflammatory disease. The major symptom in all age groups is vaginal discharge with a noticeable fishy odor. Adolescents with BV have little vulvovaginal irritation, and the cervix and upper genital tract are spared. On inspection, discharge is frequently present on the perineum (Fig. 18-40, A) and may be seen adhering to the vaginal walls, which do not appear to be inflamed. In general,

the discharge is thin and homogeneous in consistency, grayish white in color, and malodorous. Addition of 10% KOH to a sample of the discharge produces a noticeable amine odor (positive whiff test). A saline wet preparation usually reveals characteristic “clue cells” (Fig. 18-40, B). The diagnosis is made clinically by meeting three of the following four criteria: homogeneous white discharge, a positive whiff test, clue cells representing more than 20% of the epithelial cells on a saline wet mount preparation, and vaginal secretions with a pH greater than 4.5. Because BV alone is rarely associated with evidence of tissue invasion, leukocytes should not be seen in increased numbers. If they are, additional pathogens should be sought and are often found. Both oral and intravaginal metronidazole and intravaginal clindamycin are acceptable forms of treatment in the nonpregnant patient. Gonorrhea Gonococci are a common cause of treatable bacterial cervicitis in the adolescent and of vulvovaginitis in the prepubertal child. The major complaint is of a purulent vaginal discharge. Before menarche the child may be otherwise asymptomatic, but most experience some degree of vulvar discomfort, pruritus, and/or dysuria. Symptomatic adolescents without upper genital tract extension can have a similar picture. Inspection reveals a profuse purulent discharge that usually is greenish yellow but also can be creamy, yellow, green, or white.

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B

A

Figure 18-40  Bacterial vaginosis. Overgrowth of multiple anaerobes produces this form of vaginosis. A, The major symptom is one of a malodorous homogeneous vaginal discharge. B, Characteristic “clue cells” are seen on wet mount and consist of vaginal epithelial cells covered with adherent refractile bacteria. Because the organisms are noninvasive, leukocytes are not increased and mucosal changes are not present. (A, Courtesy Ellen Wald, MD, University of Wisconsin Children’s Hospital, Madison, Wis.)

Inspection of the distal vaginal mucosa in younger children reveals prominent inflammation. In adolescents the vaginal mucosa can appear normal, but the cervix usually is erythematous and friable, with purulent material seen draining through the os (Fig. 18-41, A). Patients in this age group may also have objective evidence of urethritis as manifested by erythema, edema, and tenderness of the urethra. Other sites with columnar epithelium are similarly vulnerable to infection. These include Bartholin and Skene glands and the rectum (see Fig. 18-37, B). A Gram-stained smear of the vaginal discharge will reveal large numbers of leukocytes and gram-negative intracellular diplococci (Fig. 18-41, B). Cultures or NAATs are used to confirm the infection. Culture is indicated when it is necessary

A

to determine antimicrobial sensitivity and is essential in medicolegal cases. Because simultaneous throat and anal cultures can be positive (despite the absence of anorectal or pharyngeal symptoms) even when the vaginal culture is negative, culture of these sites should be considered when gonorrhea is suspected or confirmed. Both tonsils and the posterior pharyngeal wall should be swabbed in obtaining the throat specimen; the rectal swab should be inserted no more than 1 to 2 cm past the anal orifice to avoid fecal contamination. Recent studies of women with culture-proven gonococcal cervicitis have shown that concurrent chlamydial infection is present in up to one third. Thus, when purulent cervicitis is found, specific specimens for detection of C. trachomatis should also be obtained and treatment for both pathogens

B

Figure 18-41  Gonorrhea. A, Adolescents are vulnerable to ascent of infection and usually have findings of cervical inflammation with mucopurulent discharge. B, On Gram stain, the vaginal discharge from the patient in Fig. 18-37, B with gonorrhea is found to contain sheets of leukocytes, many of which contain gram-negative intracellular diplococci. (A, Courtesy L. Vontver, MD.)

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begun empirically. Local patterns of bacterial resistance dictate antibiotic choices. Several single-dose oral therapies are usually acceptable for cervicitis. Pharyngeal and anal infection with N. gonorrhoeae may also influence antibiotic choice, and current Centers for Disease Control and Prevention (CDC) guidelines should be consulted (see Websites, following the bibliography). On occasion, patients with gonorrhea may develop disseminated gonococcal infection via hematogenous spread. This phenomenon may occur at any age. It is more common in adolescent girls with asymptomatic (and, therefore, untreated) endocervical infection, in men with asymptomatic urethral infection, and in patients of both genders and all ages with silent anal or pharyngeal infections. It can also be seen in patients with symptomatic vulvovaginitis, cervicitis, or urethritis. In postmenarchal women, systemic symptoms are more likely to develop during a menstrual period. The clinical picture often has two stages. Initially fever and chills are prominent, and the patient is intermittently bacteremic. During this stage, which lasts 2 to 5 days, polyarthralgias are experienced (involving the knees, wrists, ankles, elbows, and hands) and characteristic skin lesions often appear. The latter begin as small erythematous papules or petechiae that usually evolve to form pustules surrounded by red halos (Fig. 18-42, A and B). Later, these may necrose centrally. Lesions often contain gram-negative diplococci, which can be seen on a Gram stain, but usually fail to grow on culture. If not diagnosed and treated promptly, patients progress to a second phase, characterized by monarticular arthritis with effusion or tenosynovitis (Fig. 18-42, C and D).

A

C

725

In up to 50% of these cases, culture of joint aspirates is positive. Specialized techniques to isolate cell wall–deficient organisms further increase culture yield. Myocarditis, pericarditis, endocarditis, and meningitis are other complications of hematogenous seeding. Chlamydia trachomatis Infection Chlamydia is the most prevalent curable STI causing cervicitis and urethritis, and contributing to upper genital tract disease. Its high prevalence (up to 25%) in adolescent populations and its serious sequelae make its proper diagnosis and treatment an important aspect of adolescent sexual health care. When compared with gonococcal infection, its transmission rate for a single episode of intercourse is lower, but its prevalence is greater and infection persists longer. Of women whose male partners are infected with Chlamydia, 45% are infected. Chlamydiae are slowly replicating obligate intracellular organisms. Diagnosis is confirmed by NAAT on urine or on vaginal or endocervical swabs. Tests of cure are not recommended by the CDC and remain positive for up to 3 weeks after treatment. Reinfection is common and retesting should be considered in 3 months even in the absence of symptoms. Although most prepubertal girls are asymptomatic, some of those infected with Chlamydia may have vaginal discharge and/or bleeding, vulvar pruritus or pain, and vulvar erythema. Symptoms may be intermittent or persistent and coinfection with N. gonorrhoeae is common. Adolescent girls may have symptoms of both cervical and urethral infection. Pelvic or abdominal pain, spotting or irregular vaginal bleeding,

B

D

Figure 18-42  Disseminated gonococcal infection. A and B, These pustular skin lesions with red halos are characteristic of disseminated gonorrhea, which can occur at any age. C and D, Tenosynovitis and monarticular arthritis are commonly seen in association with skin lesions in disseminated disease. Note the signs of effusion in the right knee of the girl shown in (D). (D, Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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dysuria, and/or vaginal discharge may accompany infection. A picture indistinguishable from that of symptomatic gonorrhea (purulent vaginal discharge, perineal irritation, and findings of cervicitis with mucopurulent discharge) can also be seen (see Fig. 18-41, A). Endometritis is common with cervicitis, even in the absence of classic symptoms of pelvic inflammatory disease, and Bartholin duct infections also occur. It is important to note that asymptomatic chlamydial infection in both females and males is common. On examination of the cervix, the presence of yellowish green mucopus, cervical ectopy, and erythema are all associated with chlamydial infection. Often the cervix is friable, bleeding during the minimal manipulation necessary to obtain specimens. Microscopic evidence of other infections does not decrease the likelihood of Chlamydia coinfection and should not deter the practitioner from testing and treating for Chlamydia if its presence is suggested by the history or physical findings. As noted earlier, patients commonly have simultaneous infection with gonococci and Chlamydia—hence the rationale for testing for both organisms and treating for both when purulent cervicitis is found on examination. Chlamydia can also produce an acute urethral syndrome in postpubertal patients. Dysuria, urgency, and frequency may be accompanied by physical signs of urethral discharge, meatal redness, and swelling. Pyuria may exist in the absence of bacteriuria. An NAAT for Chlamydia can be performed on a urine specimen. Rectal infection exists in both heterosexual and homosexual populations. A rectal swab may be sent for NAAT testing for Chlamydia, with the caveat that such testing is not FDA-approved. However, individual laboratories may be approved to perform these tests. Pharyngeal infection is rarely detected. A careful sexual history may reveal extragenital sites of infection, but treatment for infection at these other sites is not known to differ. Genital Mycoplasmas Mycoplasma hominis, Mycoplasma genitalium, and Ureaplasma urealyticum are the three species of mycoplasma implicated in genital infections. The organisms may be cultured from vaginal specimens of neonates and sexually active women in the absence of disease, but colonization in the prepubertal girl is rare. Mycoplasmas have also been cultured from polymicrobial upper genital tract infections, but it remains unclear whether they are initiators of ascending infections or if they behave as normal bacterial flora accompanying the primary ascending infection of gonorrhea or Chlamydia organisms, becoming pathogenic once relocated in the fallopian tubes. Mycoplasmas have also been found to be causative in some cases of acute urethral syndrome. These organisms are not routinely tested for in clinical practice. They are thought to be eradicated by treatments for Chlamydia. Human Immunodeficiency Virus Acquired immunodeficiency syndrome (AIDS) and other manifestations of HIV infection are discussed in Chapter 12. The adolescent history outlined previously (see Table 18-3) should identify teenagers at risk of acquiring HIV infection. In an attempt to reduce subsequent transmission and to treat infection early, confidential HIV testing is encouraged for all teens at risk of exposure to the virus. The definition of moderate to high risk has been regularly changing as our understanding of the disease, its epidemiology, and treatment opportunities evolves. Reliable sources of such information (e.g., the CDC) should be consulted regularly. From the gynecologic perspective, a number of infections may present differently in the HIV-infected individual (see Table 18-7). Also, cervical cytology screening should be initiated earlier than in immunocompetent individuals.

Pelvic Inflammatory Disease An important complication of lower genital tract infection in the postmenarchal female is pelvic inflammatory disease (PID). PID results from ascending spread of a cervical infection that may or may not have been symptomatic. The majority of cases of PID are due to mixed anaerobic and aerobic infections, although the classically recognized sexually transmitted pathogens play a critical initiating role. Initiating pathogens implicated include N. gonorrhoeae, C. trachomatis, and M. hominis. Other organisms, usually considered normal vaginal or enteric flora, are potentially pathogenic when introduced into the upper genital tract. Among these are Bacteroides species; other anaerobic gram-positive bacilli and cocci, such as those found in bacterial vaginosis; and aerobes, including streptococcal species, E. coli, Klebsiella and Proteus species, and Trichomonas (see Box 18-7). Women who are immunocompromised or from areas where tuberculosis is endemic may have tuberculosis-associated PID. Risk factors for developing upper genital tract infection include adolescent age, multiple sexual partners, and previous PID. Because menstruation facilitates ascent of pathogenic organisms from the cervix to the uterus and fallopian tubes, the onset of symptoms often occurs during or shortly after a menstrual period. Long-term morbidity includes an increased incidence of ectopic pregnancy, decreased fertility, and chronic pelvic pain. These sequelae are secondary to tubal occlusion and scarring of pelvic structures. Adverse clinical outcomes and long-term morbidity may be more severe among Chlamydia-positive or non-GC/CT patients with PID. Delay in diagnosis and treatment, unusually severe PID, and repeated infection are associated with more severe long-term sequelae. It is estimated that for each episode of PID there is an additional 15% chance of subsequent fertility problems. The “textbook” picture of acute PID is one of a sexually active female who abruptly develops a high fever and shaking chills in association with intense lower abdominal pain. Nausea and vomiting are common. The patient appears acutely ill and uncomfortable and may have pain on walking, often with a shuffling gait. On examination there is prominent lower abdominal tenderness and guarding, and signs of cervicitis with mucopurulent discharge. Bimanual palpation elicits extreme pain on cervical motion and reveals marked tenderness of the fundus and adnexa. Adnexal enlargement, if present, suggests abscess formation. The erythrocyte sedimentation rate is markedly elevated, and there is a pronounced leukocytosis with a left shift on CBC and differential. This “classic” picture has the highest likelihood of being associated with positive cultures for N. gonorrhoeae. It is not the most typical scenario, however. More commonly the onset of symptoms is insidious and the clinical picture more subtle. This is particularly likely with nongonococcal PID. Fever may be absent or low grade; abdominal pain, mild; and blood work frequently is normal. In such cases diagnosis can be particularly difficult, requiring considerable suspicion and a low threshold for obtaining cultures or other tests on the part of the clinician. Lower abdominal, pelvic, and/or cervical motion tenderness and some evidence of lower genital tract inflammation usually are present even in clinically mild cases. A low-grade tubal infection may produce more in the way of adnexal findings and few, if any, uterine signs. Diagnosis is complicated by the fact that there is wide variation in the severity of the clinical picture. Furthermore, acute salpingitis may mimic a number of other disorders (Box 18-8). The adolescent girl with right lower quadrant (RLQ) abdominal pain is particularly challenging diagnostically. Table 18-8 summarizes clinical findings that may aid in distinguishing among some of the most common causes.

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BOX 18-8 

Medical Conditions Manifesting as Acute   Right-Sided Abdominal Pain in Adolescent Girls HEPATIC Fitz-Hugh–Curtis syndrome Viral hepatitis (A, B, C, etc.) Drug-induced hepatitis Autoimmune hepatitis Alcoholic hepatitis Hepatitis secondary to bacteremia Epstein-Barr virus hepatitis BILIARY Acute cholecystitis Cholelithiasis INTESTINAL Inflammatory bowel disease Irritable bowel syndrome Constipation Lactose intolerance OTHER GASTROINTESTINAL Subphrenic abscess Appendicitis Perforated gastric or duodenal ulcer PULMONARY Pneumonia, pleuritis, pleurodynia RENAL Acute pyelonephritis or perinephric abscess GYNECOLOGIC Pelvic inflammatory disease Ovarian cyst, torsion, rupture, hemorrhage Dysmenorrhea Ectopic pregnancy

Ultrasonography has proved to be a useful diagnostic tool in many such cases, although it is usually normal in most cases of PID. Optimal imaging of the pelvis and adnexa is achieved with a transvaginal probe. Most of the time, an abdominal probe will be sufficient to provide diagnostic information. Figure 18-43 illustrates ultrasound findings related to ovarian cyst and torsion.

A

727

Given the variability of the clinical picture in PID, minimal diagnostic criteria have been developed. These include lower abdominal or pelvic pain, and cervical motion or uterine or adnexal tenderness. Although adding additional criteria such as fever, leukocytosis, and abnormal vaginal microscopy may increase the specificity of the diagnosis, this also increases the risk of missing PID and delaying treatment. Because of the potentially devastating long-term sequelae of PID, aggressive, empiric broad-spectrum antimicrobial therapy is warranted. Treatment should include antibiotics that cover the common organisms in accordance with current CDC recommendations (see Websites, following the bibliography). Indications for hospitalization and parenteral therapy from the outset include the following: suspected abscess, toxicity, inability to take and retain oral medication, and concurrent pregnancy. Admission is also advisable when the exact diagnosis is unclear, or when poor compliance is likely. When initial outpatient treatment is elected, it is mandatory that the patient be reexamined within 24 to 72 hours to document clinical improvement and to confirm compliance with antibiotic use. If on follow-up it is found that there has been no significant clinical improvement, the patient should be admitted for parenteral medication. In addition to antibiotic resistance, failure to improve promptly on therapy, whether oral or parenteral, raises the possibility of complications such as abscess formation; development of a tubo-ovarian complex; or a missed diagnosis such as ectopic pregnancy, miscarriage, or appendicitis. As noted earlier, sonography is useful in evaluating masses and suspected tubo-ovarian abscesses. Laparoscopy may be necessary when surgical conditions are suspected or parenteral medical treatment fails. Perihepatitis (Fitz-Hugh–Curtis Syndrome) Perihepatitis, presenting as right upper quadrant (RUQ) pain, is seen as a complication of PID in 5% to 20% of cases. In these instances, the inflammatory process probably ascends from the fallopian tubes along the paracolic gutters to the RUQ, resulting in inflammation of the liver capsule and adjacent peritoneum. The clinical picture is one of moderate to severe pleuritic RUQ pain, which may be referred to the right shoulder, and is associated with fever, chills, nausea, and vomiting. Although the pain can develop simultaneously with pelvic symptoms of PID, in the majority of cases, it may have its onset in the course of an asymptomatic ascending lower

B

Figure 18-43  Ultrasound findings in the diagnosis of pelvic or abdominal pain. A, This image shows an abnormal amount of fluid in the cul-de-sac released from a ruptured ovarian cyst in a 15-year-old with left-lower-quadrant and midline pelvic pain. B, In a 12-year-old girl with a 4-day history of colicky right-lower-quadrant pain, ultrasound demonstrates a single large abnormal cyst and multiple small physiologic cysts. Operative diagnosis was right ovarian torsion.

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Table 18-8

Pertinent Clinical Characteristics of Disorders Causing Right-Sided or Lower Abdominal Pain in Adolescent Girls

Location and quality of pain Onset History

PID

Ovarian Torsion

Ovarian Cyst

Ectopic Pregnancy

Mid- and lateral pelvis, usually bilateral; can be vague, dull, crampy, or sharp With GC rapid With Chlamydia gradual over days to months Unprotected sexual intercourse, previous PID or STI, multiple partners, patient in first half of menstrual cycle

Unilateral RLQ or LLQ, colicky

Usually asymptomatic, but may have colicky RLQ or LLQ pain

Lateral pain, colicky, ± uterine cramping

Sudden

Gradual, although rupture or hemorrhage are associated with acutely increased pain Mid-cycle or luteal phase, physiologic rupture causes mittelschmerz, with pain for 24-48 h

Gradual with sudden exacerbation

± History of previous episodes of similar pain with resolution, increased ovarian size (anatomic variation predisposes) Vomiting with onset of pain (25%)

GI symptoms

Nausea, vomiting, anorexia may be present

Masses

Occasional; if present, consider tubo-ovarian abscess or ectopic pregnancy Cervical motion and adnexal tenderness, clinical and lab evidence of cervicitis; vaginal bleeding; ± discharge; ± RUQ pain; perihepatitis; ± cervical NAATs for gonorrhea and/or Chlamydia Usually normal, tubo-ovarian complex in 10%-15%

Usually present, increased size secondary to edema

Often palpable if not physiologic cyst

Tender adnexa, ± guarding or peritoneal signs

Unilateral cystic adnexal mass, x-ray rules out dermoid

Unilateral ovarian enlargement; solid ovarian mass, ± compromised blood supply on Doppler

Cyst > 3 cm, ± fluid in cul-de-sac frequent incidental finding on ultrasound

Inflammatory Bowel Disease

Appendicitis

Irritable Bowel/Constipation

Dysmenorrhea

Location and quality of pain

LLQ, crampy

LLQ, crampy or colicky

Suprapubic, mid-abdominal, lower back, dull cramping

Onset

Gradual over weeks to months with exacerbations Weight loss or growth failure, fatigue, rashes, arthritis, fever

Periumbilical cramping changing to RLQ cramping or sharp pain Gradual over hours to days

Periodic, evolving over hours; close to onset of flow Increasing severity 1-3 yr after menarche

Vomiting may follow onset of pain, anorexia

Long history of GI symptoms over months to years ± Constipation or diarrhea, distention common, positive family history, symptoms increase with stress Long intermittent history of constipation, ± diarrhea

Rare

Feces

↑ WBCs, fever, evolving peritoneal signs

Occasional tender colon, usually normal

Normal

Appendix frequently visible

Normal

Normal

Physical examination and laboratory findings

Ultrasound findings

History

GI symptoms Masses Physical examination and laboratory findings Ultrasound findings

Increased stool frequency, nocturnal stools, sometimes bloody diarrhea Unusual, except with chronic complicated disease Rectoabdominal tenderness, hematologic abnormalities, positive for stool heme Normal

Usually no prior pain

Rare

Amenorrhea (75%), ± pregnancy signs and symptoms GI symptoms secondary to pregnancy or severe vomiting secondary to rupture and peritonitis Adnexal mass palpable in 50% of cases Normal uterus; unilateral or bilateral adnexal tenderness; positive pregnancy test in most, but inadequate β-hCG rise/48 h after implantation; drop in Hct with rupture Tubal mass, vaginal probe enhances detection

Diarrhea, flatulence, vomiting not uncommon with start of menses None

Note: Table 18-8 is designed not only to aid the clinician in distinguishing between disorders that present with abdominal pain in adolescent girls, but also to enhance recognition of the fact that a complaint of abdominal pain must be taken seriously and evaluated carefully. ↑, increased; ±, positive or negative; GC, gonococcus; GI, gastrointestinal; β-hCG, β subunit of human chorionic gonadotropin; Hct, hematocrit; LLQ, left lower quadrant; NAAT, nucleic acid amplification test; PID, pelvic inflammatory disease; RLQ, right lower quadrant; RUQ, right upper quadrant; STI, sexually transmitted infection; WBCs, white blood cells.

genital tract infection, or later in the course of a partially treated infection. In many of these patients upper abdominal pain is so severe that the patient is relatively unconcerned about milder degrees of lower abdominal and pelvic discomfort. On examination, RUQ tenderness and guarding are the major physical findings and peritoneal signs may be present. Gynecologic examination in most instances discloses findings of purulent cervicitis and PID. Neisseria gonorrhoeae and C. trachomatis are the major pathogens associated with this syndrome. When nongonococcal in origin, the predisposing salpingitis may be silent. Patients with Fitz-Hugh–Curtis syndrome have minimal if any abnormalities of liver function tests. Although usually not necessary, ultrasound examination

of the right upper quadrant should demonstrate a normal liver, biliary tree, and gallbladder. Laparoscopic findings of purulent and fibrinous inflammation of the capsule and hemorrhagic areas of adjacent parietal peritoneum are diagnostic, but laparoscopy is rarely indicated for this condition. Major differential diagnostic considerations are listed in Box 18-8 and Table 18-8.

PREGNANCY The birth rate for 15- to 19-year-old adolescents in the United States, approximately 42 per 1000, is the highest in the industrialized Western world. Because most of the pregnancies are unintended, adolescents may deny the possibility of their condition for extended periods to themselves, their parents,

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Table 18-9

Signs and Symptoms of Pregnancy

First Trimester (6-12 Weeks)

Second Trimester (12+ Weeks)

Amenorrhea Light, irregular vaginal bleeding Syncope or fainting Fatigue Urinary frequency Mood swings “Morning” sickness Nausea and vomiting Food cravings Increased facial oil gland activity (“glow”) Elevated body temperature Chloasma (dark facial pigmentation) Nasal stuffiness or mucous membrane congestion

Increased size of breasts, abdomen, waist Increased weight and clothing size Increased vaginal discharge Increased skin pigmentation Congestion of vaginal mucosa

Gestation* 1 2 3

Laboratory and Clinical Correlations of Pregnancy Serum hCG (MIU/mL)

4 5

6

>1000

7 8 10 12

>10,000 100,000 (peak)

14 16

Signs, Symptoms, and Significant Events Last menstrual period

5 (24 h postimplantation) 70-100 >250

10,000; false negatives may occur in second and third trimesters

20 *Weeks from last menstrual period. hCG, human chorionic gonadotropin.

Causes of False-Positive and False-Negative Urine Pregnancy Tests

False-Negative Test

False-Positive Test

Too early (commonly) or too late (rarely) Adulterated urine Ectopic pregnancy (rarely negative, almost always positive) Impending or missed abortion (rarely negative, almost always positive) Dilute urine

Molar pregnancy Malignancies (gynecologic and other) Postpartum and postabortion (up to 4 wk) Chinese herbal medications Hematuria or proteinuria* Midcycle LH surge* Perimenopausal* (LH elevation) Premature ovarian failure* (LH elevation)

*Can occur with less sensitive over-the-counter urine pregnancy tests. LH, luteinizing hormone.

and others. This delay is associated with decreased options and increased complications of pregnancy and neonatal morbidity. Vaginal bleeding or spotting in early pregnancy may falsely reassure a young woman that she is not pregnant, and minimal weight gain (whether voluntary or involuntary) may further facilitate denial. Some of these patients may present with substitute (not pregnancy-related) or peripheral chief complaints. Among these are pelvic, abdominal, or back pain; vomiting and dehydration; constipation; urinary complaints; and urinary tract infection. Phlebitis; rupture of membranes; symptoms of gestational diabetes; or secondary problems of fatigue, insomnia, or headache ultimately bring some of these patients to medical attention. With or without denial, at the time of presentation the teenager or her parent may suspect pregnancy. Interviewing the patient and parent separately may facilitate a complete and accurate history.

Table 18-10

Table 18-11

729

Conception followed by implantation Missed period Pelvic ultrasound detects pregnancy; breast changes— tender, swollen; nipples— sensitive, dark Nausea, morning sickness; softening of lower corpus Bluish color of cervix; softening of cervix; cardiac motion detectable on ultrasound Fundus palpable at pelvic brim; fetal heart tones detectable with Doppler Decrease in early signs and symptoms Fundus palpable midway between pelvic brim and umbilicus; fetus visualized by x-ray; perception of fetal movement Fundus palpable at umbilicus

Considering the frequency of teenage pregnancy and the tendency of individuals to have alternative chief complaints, practitioners who care for adolescents should be familiar with the signs, symptoms, and methods of diagnosing pregnancy. Signs and symptoms of pregnancy are outlined in Table 18-9. A chronology of laboratory and clinical findings during pregnancy is presented in Table 18-10. Home pregnancy tests are variable in sensitivity. Some are identical to and as sensitive as office laboratory enzyme-linked immunosorbent assays (ELISAs), and others may not give a positive result on a first-morning specimen until 14 to 21 days after conception. False-positive and false-negative results are encountered infrequently; causes for both are listed in Table 18-11. In particular, false positives are not caused by foods or drugs, but can occur in certain medical situations including up to 4 weeks after an abortion. Pregnancies are dated from the last normal menstrual period and not from conception, which typically occurs 2 weeks later. This is not well known by the public and should be explained to minimize confusion, facilitate decision-making, and clarify paternity.

ACKNOWLEDGMENT The authors gratefully acknowledge Holly Davis for all of her work on previous versions of this chapter as well as for contributing all the photographs not otherwise attributed. Bibliography American College of Obstetricians and Gynecologists (ACOG): ACOG Committee opinion no. 463: Cervical cancer in adolescents: Screening, evaluation, and management, Obstet Gynecol 116:469–472, 2010. Bandow GD: Diagnosis and management of vulvar ulcers, Dermatol Clin 28:753–763, 2010. Berenson AB: Appearance of the hymen at birth and one year of age: A longitudinal study, Pediatrics 91:820–825, 1993. Berenson AB, Heger AH, Hayes JM, et al: Appearance of the hymen in prepubertal girls, Pediatrics 89:387–394, 1992. Braverman PK, Breech L: Clinical report—gynecologic examination for adolescents in the pediatric office setting, Pediatrics 126:583–590, 2010. Emans SJ, Laufer MR, Goldstein DP: Pediatric and adolescent gynecology, ed 5, Philadelphia, 2005, Lippincott Williams & Wilkins. Garel L, Dubois J, Grignon A, et al: US of the pediatric female pelvis: A clinical perspective, RadioGraphics 21:1393–1407, 2001. Hammerschlag MR, Guillen C: Medical and legal implications of testing for sexually transmitted infections in children, Clin Microbiol Rev 23:493–506, 2010. Hatcher RA, Trussell J, Nelson AL, et al, editors: Contraceptive technology, ed 19, New York, 2007, Ardent Media. Holmes KK, Sparling PF, Stamm WE, et al, editors: Sexually transmitted diseases, ed 4, New York, 2008, McGraw-Hill. Paradise JE, Campos JM, Friedman HM, et al: Vulvovaginitis in premenarchal girls: Clinical features and diagnostic evaluation, Pediatrics 70:193–198, 1982.

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Pokorny SF, Stormer J: Atraumatic removal of secretions from the prepubertal vagina, Am J Obstet Gynecol 156:581–582, 1987. Reddy J, Laufer MR: Hypertrophic labia minora, J Pediatr Adolesc Gynecol 23:3–6, 2010. Sanfilippo JS, Lara-Torre E, Edmonds K, et al, editors: Clinical pediatric and adolescent gynecology, New York, 2009, Informa Healthcare. Trager JDK: Pubic hair removal—pearls and pitfalls, J Pediatr Adolesc Gynecol 19:117–123, 2006.

Websites American College of Obstetricians and Gynecologists: www.acog.org Center for Young Women’s Health: www.youngwomenshealth.org

Centers for Disease Control and Prevention: Sexually transmitted diseases (STDs), www.cdc.gov/std/treatment/default.htm North American Society for Pediatric and Adolescent Gynecology: www.naspag.org/ Society for Adolescent Health and Medicine: www.adolescenthealth.org World Health Organization: Classification of female genital mutilation, www.who.int/reproductivehealth/topics/fgm/overview/en/index.html

19 

OPHTHALMOLOGY Kenneth P. Cheng  |  Albert W. Biglan

Infants and children may be affected by conditions not seen

in adults, and the examination techniques and treatments that they may need frequently require subspecialty care. More than 50 years ago pediatric ophthalmology became established as a distinct subspecialty of Ophthalmology. Common problems include refractive errors, strabismus, amblyopia, infections, and trauma. Other problems encountered include ocular complications of systemic disease, developmental and genetic conditions, and neoplasms affecting the globe and orbits.

ANATOMY OF THE VISUAL SYSTEM The visual system is conveniently separated into three principal parts: the globe and surrounding structures (Fig. 19-1), the visual pathways, and the visual or calcarine cortex. The eyelids provide protection for the globe and assist in even distribution of the tear film over the cornea to provide a clear, undistorted optical surface. The crystalline lens complements the cornea’s refracting power with its ability to adjust the focal length of the optical system so that incoming light from objects at any distance may be clearly imaged on the retina. During the first 2 to 3 months of life, children develop the ability to focus on images at any range (accommodation). Light is focused on the macula, the portion of the retina responsible for the central field of vision (Fig. 19-2). The retina contains the photoreceptors, rods and cones, which convert light energy into an electrical nerve response. The fovea centralis is the center of the macula; it has the greatest concentration of cones and is responsible for detailed, colored central visual acuity. Nerve fibers emanate from the ganglion cell layer of the retina and coalesce to form the optic nerve. The right and left optic nerves pass from the orbits and join together to form the optic chiasm. Nerve fibers from the nasal retina decussate at the chiasm and are directed toward the contralateral side of the brain. Fibers from the temporal retina travel without crossing at the chiasm to the ipsilateral visual cortex (Fig. 19-3). From the optic chiasm the fibers form the optic tracts and synapse in the lateral geniculate nucleus in the midbrain. From there the optic radiations, one on each side of the brain, travel posteriorly to the visual cortex above the cerebellum. The decussation of nerve fibers at the chiasm and integration in the visual cortex are responsible for binocular vision and the formation of the visual field. For example, if an object is seen off to the person’s left, the image is received by the nasal retina of the left eye and the temporal retina of the right eye. Similarly, if the object is off to the person’s right, the image falls on the nasal retina of the right eye and the temporal retina of the left eye. The temporal retina images objects in the contralateral visual field, and the nasal retina images objects in the ipsilateral visual field. Because of the decussation of nasal retinal fibers, the right visual cortex receives images from the left side of the visual field and the left visual cortex receives images from the right side of the visual field.

Lesions of the visual pathways produce predictable patterns of visual field loss; for example, a left homonymous hemianopsia (loss of the left side of the visual field) is produced by a lesion of the right occipital cortex. Detection of a visual field defect that respects or does not extend across the vertical midline of the visual field indicates pathology posterior to the optic chiasm (within the intracranial portion of the visual system). Visual field defects that involve both the right and left sides of the visual field in one or both eyes indicate either retinal or optic nerve pathology or lesions to both sides of the intracranial visual system. Because of the anatomy of the optic chiasm, compressive lesions of the chiasm (e.g., pituitary tumors) produce visual field defects involving the left side of the visual field of the left eye and the right side of the visual field of the right eye (bitemporal defects). The visual field can be arbitrarily divided into the central field of vision and the peripheral field. The macula is responsible for the central field. A physiologic blind spot is found about 10 to 15 degrees temporal to central fixation (the fovea) and represents the area of the visual field that corresponds to the optic nerve head (optic disc). Precise measurement of the visual field of each eye can be obtained in a cooperative child or adult, using a Goldmann visual field perimeter or an automated visual field device. This test requires steady fixation and concentration. In young children, it is impractical to attempt this tedious measurement. In a patient unable to cooperate for a formal visual field test, the fields are assessed by observation of the child’s eyes fixating on small targets brought into the peripheral field of vision in each quadrant of the visual field. Visual fields may also be assessed by a confrontation method, in which the child fixates on the examiner’s nose and is asked to identify the examiner’s fingers as they are slowly brought into each quadrant of the visual field from the periphery.

EVALUATION OF VISION Selection of a test to measure a patient’s visual acuity depends on the patient’s age, cooperation, and level of development. The evaluation of vision in a young infant or nonverbal patient requires the use of the fixation reflex. This reflex develops during the first month or two of life. Although almost all 2- to 3-month-old infants can fixate and follow a face or bright object quite well into all fields of gaze, it is not necessarily abnormal for this milestone not to be present until 6 months of age. The level of vision can be estimated by the quality and intensity of the fixation response. If the visual acuity is normal, central fixation is steady and maintained on objects. If visual acuity is profoundly decreased, the quality of fixation may be wandering in nature, poorly maintained, or eccentric. Central, steady, maintained fixation equates to visual acuity of 20/200 or better. Eyes with unsteady or wandering fixation usually have visual acuity decreased to the 20/800 range (Fig. 19-4). 731

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Cul-de-sac Optic nerve

Bulbar conjunctiva

Anterior chamber angle and trabecular meshwork

Tarsal conjunctiva Fovea centralis

Vitreous Cornea Anterior chamber Iris Ciliary body and processes

Optic nerve

Lens Retina

Zonules

Optic chiasm Optic tract

Sclera Figure 19-1  Globe and surrounding structures.

The visual pathways coalesce in the visual cortex. Electrical impulses in the visual cortex produced by light stimulation of the retina can be measured by placement of sensitive electrodes on the overlying scalp. This is termed the visual evoked potential or response (VEP or VER). The pattern visual evoked potential uses an alternating checkerboard stimulus, which can be controlled to produce a pattern of checks that may be increased or decreased in size. This test can be used to estimate visual acuity in preverbal or nonverbal children. Caution must be used in interpreting this test, however, because children and adults with known 20/20 vision can voluntarily suppress the visual evoked response. In addition, children who have significant decreases in their visual acuity may have a visual evoked response that overestimates the visual acuity. Nonverbal infants or children may have their grating visual acuity measured with Teller Acuity Cards (Stereo Optical, Chicago, Ill.). This test is based on a child’s reflex to move the eyes or head toward a pattern of alternating black-andwhite stripes of increasing frequency rather than neutral gray of the same brightness. The Allen object recognition cards, simple pictures of common objects, are useful for assessing visual acuity in a 2- to 3 1 2 -year-old child who cannot comprehend the illiterate or tumbling E game or recognize Snellen letters. To perform

Figure 19-2  Normal fundus. Posterior pole with normal optic disc and retinal vasculature. The macula is visualized as an area of increased pigmentation temporal to the optic disc. The retinal vessels surround but do not go through the macula. The fovea centralis or center of the macula is maintaining fixation on the end of a vertical fixation target.

Optic radiations

Lateral geniculate body

Figure 19-3  Visual field and visual pathways.

this test, the child is taught what the pictures are, and then one eye is occluded and picture cards are individually presented at increasing distances until the patient recognizes the cards at 20 feet or fails to recognize the cards (Fig. 19-5). Recognition of the cards at a distance of 20 feet equates to a visual acuity of 20/30. The farthest distance at which the cards can be recognized is noted, and the visual acuity is quantitated as that distance over the denominator of 30 (e.g., 5/30, 15/30, 20/30). This is a measurement of recognition visual acuity. Although use of isolated targets is not ideal for detection of amblyopia, the test can be quickly and easily taught to apprehensive or shy young children and comparison of vision between the eyes detects most cases of amblyopia and other defects in visual acuity. The LEA symbols are another set of object recognition visual acuity cards. These have the advantage of having five symbols on each card, and the child identifies the symbol in the middle of the card. Presentation of several letters at a time is a more accurate measurement of visual acuity, due to a phenomenon termed crowding. Amblyopic eyes recognize letters or symbols better if they are presented in isolation or one at a time rather than if four or more are presented together on lines above and below one another. The difference may be as much as one or two lines of visual acuity (e.g., 20/30 isolated symbol visual acuity reducing to 20/40 or 20/50 when measured with a Snellen letter chart). Many different visual acuity tests are calibrated using different letters and symbols or groups of symbols. The Sheridan-Gardiner or HOTV visual acuity tests are easy to administer and more accurately measure visual acuity in 4- to 6-year-old children who are beginning to read letters. In the HOTV test the letters H, O, T, and V are individually presented on cards, and the child matches the letter with a corresponding letter on a card that is held on the lap (Fig. 19-6).

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A

733

B

Figure 19-4  Test for central fixation. A, An alert child seated on her mother’s lap with one eye covered. The child is content to fix and follow with the normal left eye. B, The cover (in this case, fingers) is then transferred to the left eye. The child becomes disturbed, pushes the hand away, and moves her head to see. This suggests that the visual acuity in the right eye is not as good as the acuity in the left eye.

Another commonly used test to measure the visual acuity of 3 1 2 -year-old children is the “E game.” The child is presented with the letter E in decreasing sizes and rotated in an up, down, right, or left orientation, and the child indicates the direction of the crossbars of the E by pointing. The gold standard for measurement of visual acuity is the presentation of a full line of letter optotypes. This presentation is best achieved with a wall chart or by projection of the letters onto a standardized reflective surface. Discussion of visual acuity measurements should include whether the visual acuity has been measured without correction of refractive errors or whether any refractive error present has been corrected with glasses or contact lenses (best corrected visual acuity). To differentiate an organic problem of the visual system from simple refractive error, the best corrected visual acuity provides the most useful information. If correction of the patient’s refractive error with glasses is not available an approximation of corrected visual acuity may be made by having the patient look through a pinhole. The pinhole prevents indirect rays of light, which need to be refracted by the optics of the eye, from entering the eye, so that the effects of refractive errors in the eye are minimized. Patients demonstrate the pinhole effect when they squint in order to see better. If the patient’s visual acuity improves when looking through the pinhole a refractive error is present. If it does not improve then another cause for the decrease in vision is likely.

Normal values for best corrected visual acuity depend on the patient’s age. A child at 6 months of age should have a visual acuity of 20/60 to 20/100. A child who is 3 years old can be expected to have an acuity in the range of 20/25 or 20/30, using the E game or a recognition target test. With further maturation, a 5- to 7-year-old child should have visual acuity of 20/20 to 20/25 as tested with a full-line presentation of Snellen letters. If the best corrected visual acuity is less than 20/20 in a child older than 8 years of age, investigation for the cause of the decrease in visual acuity should be made. It is recommended that vision screening be conducted as part of well-child care at regularly scheduled intervals in the pediatrician’s or family practitioner’s office. In infancy the fixation and following response of each eye to a fixation target should be recorded. Beginning at age 3, quantitation of visual acuity using Allen cards, the E game, an HOTV chart, or other preliterate vision test should be completed. Later, a Snellen or letter chart visual acuity test should be performed by the office

Figure 19-5  Visual acuity testing with the Allen object recognition cards. Recognition of each figure at a distance of 20 feet is equivalent to a visual acuity of 20/30. The visual acuity is quantitated as the number of feet at which each figure may be recognized over 30 (e.g., 5/30, 15/30, 20/30).

Figure 19-6  The Sheridan-Gardiner visual acuity test presents letters of decreasing size to a child who matches the figure presented to one on a card held on his or her lap. This test provides an accurate assessment of visual acuity for children who have not yet mastered reading the alphabet.

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staff or physician, and the results should be recorded as part of the patient’s medical record. Most importantly, the visual acuity should be equal in both eyes. Further evaluation of a young child is prompted if the patient is cooperating well and the visual acuity is less than 20/40 with letters, or less than 15/30 measured with Allen visual acuity cards, in either or both eyes. Some state laws require that vision screenings be performed in school at 1- to 2-year intervals. In a child 6 years of age or more, referral to an ophthalmologist is indicated if the vision is less than 20/30 in either eye. If appropriate vision screenings are passed in the primary care physician’s office, school, or preschool, and there is no family history of hereditary eye disease or other suspicion or risk factor for eye disease present, comprehensive examination of the child’s eyes by an optometrist or ophthalmologist is not necessary.

Figure 19-7  Retinoscopy. The examiner is viewing light emanating from the retina through the retinoscope. A lens is held in front of the patient’s eye to neutralize refractive errors.

REFRACTIVE ERRORS Decreased visual acuity is most commonly the result of a refractive error in the eye. This may be due to variation in the curvature of the cornea or lens or variation in the axial length of the eye. Determination of the refractive state of the eye is part of a comprehensive ophthalmic evaluation. In children, an objective measurement of the refractive error is best obtained by using eyedrops that temporarily inhibit accommodation (cycloplegia) and cause pupillary dilation (mydriasis). Cycloplegic–mydriatic agents such as cyclopentolate or tropicamide are instilled, and 30 minutes later accommodation is temporarily paralyzed and the pupil is dilated. A retinoscope is used to project a beam of light into the eye and illuminate the retina. The light is then reflected back to the examiner through the patient’s pupil and optical system. The focus of the reflected light is neutralized by placement of appropriate lenses in front of the eye, and the refractive error of the eye is accurately and objectively measured (Fig. 19-7). Low levels of hyperopia (farsightedness) in the range of +1.50 to +2.00 diopters are normal during childhood and are easily compensated for by the focusing mechanism of the lens (accommodation), so glasses are not necessary. The amount of hyperopia normally increases until 5 years of age and then decreases. Under normal circumstances, emmetropia, or no refractive error, is achieved around adolescence. If excessive axial growth, that is, elongation, of the eye occurs, myopia (nearsightedness) develops. A patient’s refractive error

is for the most part genetically predetermined. The effect that environment has on refractive error is not completely understood. The optical image formed by a hyperopic eye is in focus behind the retina (Fig. 19-8, C). By changing the shape of the lens with accommodation, the image can be brought into focus on the retina and glasses may not be required. If a large amount of hyperopia is present (+4.00 diopters or more), fatigue; headaches; asthenopia; and blurring of vision, especially at near, may occur. Hyperopia greater than +5.00 or +6.00 diopters may cause ametropic amblyopia. When this occurs, glasses are prescribed to correct the child’s refractive error so that focused images stimulate the development of normal vision. If large hyperopic refractive errors are not treated by 6 to 8 years of age, the resultant amblyopia may be irreversible. The optic discs in eyes with large degrees of hyperopia may have an appearance simulating papilledema (pseudopapilledema) (Fig. 19-9). Myopia is most commonly caused by an increase in axial length of the eye with respect to the optical power of the eye (see Fig. 19-8, B). Children who are myopic can see near objects clearly; objects at distance are blurred and cannot be brought into focus without the aid of glasses or a contact lens. Wearing glasses for myopia does not change the growth of the eye and,

REFRACTIVE ERRORS

Normal

A

Myopia

B

3

1

3

4

Hyperopia

Corrected

D

1 4 2

2

C

Corrected

Astigmatism

Corrected

Figure 19-8  In the normal or emmetropic eye (A), light from a distant object is focused on the retina. In a myopic eye (B), it is focused in front of the retina; in a hyperopic eye (C), it is focused behind the retina; and in an astigmatic eye (D), light in different meridians is brought to focus either in front of or behind the retina.

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Figure 19-9  Pseudopapilledema in a hyperopic child. Vessels are normal sized; small vessels are continuously visible at the disc margins because there is no edema of the nerve fiber layer. There are no hemorrhages or exudates.

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football its characteristic shape. Bulky masses in the lids such as chalazions or hemangiomas may compress the cornea and induce astigmatic refractive errors. Anisometropia refers to the condition in which one eye has a different refractive error than the other. Usually the eye with the least amount of hyperopia or refractive error is the dominant or preferred eye. The fellow eye may be suppressed and develop amblyopia because the development of the visual system is being stimulated by a sharp focused image from one eye and a less focused image from the other eye. The magnitude of the amblyopia depends on the magnitude of the anisometropia and the age at which it developed. Anisometropia may occur with hyperopia, myopia, astigmatism, or a combination of these refractive errors. If the degree of anisometropia is large, the optical properties of the required correcting lenses produce a difference in image size between the two eyes, aniseikonia, which may be difficult for the patient to tolerate.

STRABISMUS contrary to popular belief, does not promote the resolution or progression of the myopia. Bifocals and cycloplegics may have a small effect on slowing the progression of myopia, but no treatment is currently available to reverse or stop the progression of myopia. Myopia may be present at birth but usually develops with growth spurts that occur between 8 and 10 years of age. The amount of myopia present usually increases until growth is completed after adolescence. High degrees of myopia ranging from −8.00 to −20.00 diopters may be associated with systemic conditions such as Stickler and Ehlers-Danlos syndromes, which are associated with connective tissue defects and increased axial length of the eye. Myopia is inherited as a multifactorial trait. High myopia with extreme lengthening of the globe may be associated with retinal thinning, peripapillary pigment crescents, staphylomas (a focal area of bulging of the posterior globe wall), and decreased macular function with poor visual acuity. The optic nerve may appear to enter the eye at an angle (Fig. 19-10). High myopia has an increased incidence of retinal detachment, especially after direct trauma to the eye or concussive head trauma. In astigmatism the refractive power of the eye is different in different meridians (see Fig. 19-8, D). This produces a blurred retinal image for objects at both distance and near. Astigmatism occurs when the cornea, lens, or retinal surface has a toric shape rather than a spherical one. This may be likened to the two different radii of curvature that give a

Figure 19-10  High myopia. Thinning of the retinal pigment epithelium produces a tessellated fundus appearance. In eyes with moderate or high myopia a temporal crescent adjacent to the optic disc is frequently present, and the optic disc may have an anomalous tilted appearance.

Misalignment of the visual axes is referred to as strabismus. Strabismus occurs in 1% to 4% of the population and may be congenital or acquired. It may occur on a hereditary basis, most commonly without a clearly defined inheritance pattern. In the majority of childhood strabismus the misalignment of the eyes is not caused by a specific cranial nerve or extraocular muscle dysfunction. In some cases, strabismus may be caused by cranial nerve paralysis or neuromuscular disorders (myasthenia gravis). Voluntary and reflex movement of the eyes is mediated via the extraocular muscles. These muscles are coordinated in their saccadic and pursuit movements by centers in the frontal and occipital areas of the cerebral cortex with modification by the cerebellum. Saccades are voluntary movements used to move the eyes to the object of regard. These are rapid eye movements. Pursuit or following movements are used to track or follow moving objects. These are slow eye movements. The third, fourth, and sixth cranial nerve nuclei, located in the brainstem, are the centers responsible for innervating the extraocular muscles. In addition to innervation of the inferior oblique, medial, inferior, and superior recti, the third cranial nerve is responsible for innervation of the levator muscle, pupillary constriction, and accommodation of the lens. The fourth cranial nerve provides innervation to the superior oblique muscle, and the sixth cranial nerve supplies the lateral rectus muscle (Fig. 19-11). When one or more of the cranial nerves are paretic, the action of the innervated muscle is decreased, leading to a deficit in the duction or movement

Tilted disc Temporal crescent revealing sclera with no overlying choroid or pigmented epithelium

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Trochlea

Superior oblique muscle (IV) [Intorsion and depression in adduction] Tendon of superior oblique

Superior rectus muscle (III) [Elevation]

Lateral rectus muscle (VI) [Abduction]

Medial rectus muscle (III) [Adduction]

Inferior rectus muscle (III) [Depression] Nasal

Inferior oblique muscle (III) [Excyclotorsion and elevation in adduction]

Temporal

CRANIAL NERVES III Oculomotor nerve IV Trochlear nerve VI Abducens nerve Figure 19-11  Innervation (in parentheses) of extraocular muscles and their primary actions [in brackets].

of the eye into the field of action of the muscle. The muscle having a function of movement in the opposite direction is no longer balanced, producing strabismus. An abnormal head posture may be a sign of strabismus in patients with cranial nerve dysfunction or nystagmus. These postures are observed in children who have good binocular function. Head postures are used to compensate for double vision caused by horizontal, vertical, or cyclovertical muscle palsies. For example, in a patient with a right sixth nerve palsy the abduction of the right eye is deficient. The adducting force of the medial rectus is not balanced, and the eye is in a relatively adducted or esotropic position. The patient then manifests a head turn to the right to allow the right eye to be in a position where less abducting force is required, allowing both eyes to fixate together. In a patient with nystagmus, a head posture may be used to place the eyes at the null point, or direction of gaze where the amplitude of nystagmus is the least. In cases of torticollis, if the head posture is present while the patient is sleeping, the cause of the head posture is unlikely to be ophthalmologic in nature. Conversely, if a patient’s head posture goes away when either eye is occluded, it suggests that the cause of the head tilt or turn may be related to a problem of ocular alignment or strabismus. Head turns may sometimes be seen when the vision in one eye is much worse than the other.

Versions Eye movements are tested by moving the eyes right, left, up, down, up and right, down and right, up and left, and down and left. This tests the function of each extraocular muscle and its counterpart or yoke muscle in the fellow eye. Versions refer to movement of both eyes together in conjugate gaze. A

duction is the movement of a single eye. Normal version movements should be present by 4 months of age. Vergence movements consist of convergence or divergence of the eyes. Vergences are well established by 6 months of age. Convergence of the eyes, coupled with accommodation and miosis of the pupil, is referred to as the near response. Convergence assists alignment of the eyes at near. A strabismus deviation that changes in size or magnitude in different gaze positions is termed incomitant. Strabismus deviations that remain the same in all gaze positions are termed comitant. Strabismus caused by cranial nerve paralysis is incomitant.

Phorias and Tropias If strabismus is present, it may be manifest (i.e., a tropia) or held latent by sensory fusion (i.e., a phoria). When the fusion of a patient with a phoria is interrupted by placing an occluder in front of one eye, the eye seeks its position of rest and deviates so that the visual axes of the two eyes are no longer both aligned on the point of fixation. When the eye is uncovered and binocular vision is re-established, the fusion response assists in the realignment of the eyes on the object of regard. A phoria may produce symptoms of fatigue, blurring, or movement of objects. When a phoria breaks down into an intermittent tropia, there may be a symptom of intermittent double vision or diplopia. Phorias, especially if large, may become symptomatic at times of fatigue, stress, or illness. A tropia is a constant or intermittently present ocular deviation. The fusion mechanism is unable to maintain alignment of the eyes on an object of fixation. Young children with tropias develop suppression of the tropic eye as a natural response to avoid diplopia. Older children or adults who acquire a tropia (e.g., from an acquired cranial nerve palsy) have diplopia as a symptom of the misalignment of their visual axes. The deviation present in a tropia may occur in one or all positions of gaze, depending on the cause of the tropia. Phorias and tropias are classified according to the pattern of the eye deviation. The prefixes eso- and exo- classify horizontal strabismus. Hyper- and hypo- are used for vertical deviations, and incyclo- and excyclo- for torsional deviations.

Esodeviations An esodeviation is a convergent deviation of the eyes. The deviation may be latent, a phoria (esophoria), or it may occur as a manifest deviation, a tropia (esotropia). Common esodeviations seen in children are infantile esotropia, accommodative esotropia, esotropia resulting from sixth cranial nerve palsy, and Duane syndrome. Infantile Esotropia The most common cause for an esodeviation presenting in infancy is infantile, or congenital, esotropia (Fig. 19-12). In this condition the esotropia is seen at birth or very early in infancy. On occasion a family history of infantile esotropia exists. The angle of esodeviation is large and constant. Abduction may be deficient due to contraction of the medial rectus muscles, and differentiation from sixth nerve palsy may be difficult. Cross-fixation is usually present, with the adducted right eye used for vision to the left and the adducted left eye used for vision to the right. Abduction of an eye is checked by occluding the contralateral eye and quickly encouraging fixation movements while holding the head. Doll’s head maneuvers may also be used to test abduction of the eyes. Children with this condition usually do not develop much amblyopia and maintain good visual acuity in both eyes

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Figure 19-12  Infantile esotropia with asymmetrical corneal light reflexes.

whether they are treated or not. There are no associated neurologic or systemic abnormalities. The esodeviation present in infantile esotropia requires surgical correction. After correction, the ocular alignment is frequently unstable, with further surgery commonly required later in life no matter how early surgery is performed or how well aligned the eyes are after surgery. Inferior oblique overaction and dissociated vertical deviations frequently develop later in childhood or adolescence. Inferior oblique overaction is seen as an elevation of one or both eyes in adduction. Dissociated vertical deviation (DVD) (Fig. 19-13) is an upward and outward “floating” movement of one or both eyes that becomes more prominent with fatigue or inattention. A DVD may be elicited on examination by covering one eye and watching its position as the eye is covered. These patients do not experience diplopia. Patients with infantile esotropia also commonly develop accommodative esotropia, with a need for glasses later in childhood. While excellent visual acuity and alignment of the eyes are most commonly achieved with treatment, the development of high levels of binocular function (stereopsis) is usually not obtained. Accommodative Esotropia Accommodative esotropia most commonly presents as an acquired strabismus at 2 1 2 to 5 years of age. Family histories of hypertropia, anisometropia, esotropia, and amblyopia are very common. The presence of uncorrected hyperopia causes the patient to accommodate or focus to obtain clear visual acuity. With accommodation, the synkinetic near response, which includes miosis, accommodation, and convergence of the eyes, occurs. If the fusion mechanism is unable to diverge the eyes to compensate for the excessive convergence accompanying the need to accommodate to correct for the patient’s hyperopia, esotropia results. If an esodeviation is associated with a modest degree of farsightedness, treatment of the hyperopia optically with glasses is indicated. In patients with purely accommodative esotropia, this measure alone may completely correct the

Figure 19-13  Dissociative vertical deviation (DVD), an upward and outward drifting of the right eye. Covering the fixating left eye in the cover–uncover test causes the deviating right eye to move into alignment with the left eye. The covered left eye remains straight and no hypodeviation or exodeviation of the left eye is seen when the cover is removed. This differentiates DVD from a tropia.

deviation (Fig. 19-14). Frequently, especially if the esodeviation has been left untreated for a long period of time, a residual esodeviation will remain. This is a partially accommodative esotropia. Surgical correction may be recommended for these patients. Some patients have straight eyes for some time with their glasses in place and decompensate to partially accommodative or nonaccommodative esodeviations later. In patients with accommodative esotropia, the eyes are straight with their glasses on and esotropic when they are removed. Frequently, if the patient is only moderately hyperopic in the preferred fixating eye, the patient will say that he or she can see just as well or perhaps better without their glasses. The glasses are not prescribed necessarily to improve visual acuity; rather, the glasses are intended to decrease the accommodative effort and to decrease the esotropia. In another form of accommodative esotropia, the ratio between accommodative convergence and accommodation (AC/A ratio) may be abnormally high, producing excessive convergence when focusing on near objects. In high AC/A ratio accommodative esotropia, the esodeviation with near vision is greater in magnitude than it is with distance vision (Fig. 19-15). These patients may be treated with a bifocal, which gives them additional hyperopic correction for near, decreasing their accommodative effort at near and decreasing the near esodeviation. Nonaccommodative Esotropia Children may develop an esodeviation that is present without any relationship to the patient’s refractive error (Fig. 19-16). Correction of the hyperopia with glasses does not improve the esotropia in these patients. These nonaccommodative esodeviations may be associated with poor vision, trauma, prematurity, aphakia, or high myopia. Nonaccommodative esotropia may also develop when accommodative esotropias are left untreated.

Figure 19-14  Accommodative esotropia. A, Esotropia. B, Glasses have corrected the patient’s hyperopia, and the esotropic eye is now straight.

A

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B

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Figure 19-15  High AC/A ratio accommodative esotropia. A, This child with hyperopia has an esotropia when fixing at distance, and a larger angle esotropia in the near range. B, When glasses are prescribed to correct the hyperopia the eyes straighten at distances. C, The near esotropia remains. D, When bifocals are used, the near esotropia is corrected.

A

B

C

D

Other Causes of Esotropia Unilateral or bilateral sixth cranial nerve palsy causes deficient abduction and an esodeviation. In sixth nerve palsy the esotropia increases with gaze directed toward the side of the palsy (gaze incomitance). Other signs of the nerve paralysis that may be more difficult to detect include the extent and speed of abduction of the eye. Patients may display a head turn toward the side of the palsy to hold the involved eye in adduction and maintain binocular vision. Sixth cranial nerve palsies in children may be associated with increased intracranial pressure, trauma, tumor, or antecedent viral illness. In benign or “postviral” and traumatic cases the lateral rectus function may return gradually and fully over a 6-month period. In idiopathic cases, if improvement does not occur, if the deviation increases, or if a gaze palsy develops, suspicion should be raised that a tumor, most commonly pontine glioma, may be the cause for the sixth nerve paralysis. Duane syndrome is a congenital unilateral or bilateral defect characterized by inability to abduct an eye. This may be accompanied by an up or down shoot of the eye and narrowing of the lid fissure on attempted adduction. In attempted abduction the palpebral fissure widens. Duane syndrome is

caused by a malformation of the cranial nerve nuclei producing co-innervation of the medial and lateral rectus muscles. The lateral rectus muscle does not contract with abduction and paradoxically co-contracts along with the medial rectus on adduction. The co-contraction with adduction causes a retraction of the globe and the lid fissure narrowing. Patients with Duane syndrome may be esotropic and have a head turn toward the involved side analogous to those seen with a sixth cranial nerve palsy. The changes in lid position and vertical deviations help to differentiate the two conditions (Fig. 19-17). Pseudostrabismus Pseudostrabismus is seen in infants with prominent epicanthal folds, closely placed eyes, and flat nasal bridges. Asymmetry of the lids or nasal bridge may also produce pseudostrabismus. When these facial features are present, the white of the sclera between the cornea and inner canthus frequently may be obscured, giving the optical illusion that the eyes are esotropic (Figs. 19-18 and 19-19). Parents and caretakers frequently report subtle esodeviations that worsen with gaze to the right or left. This is frequently pointed out in photographs in which careful examination shows the eyes to be in slight

Figure 19-16  The girl in (A) shows nonaccommodative esotropia, an esotropia that could not be corrected with glasses. Surgery was performed, and the 1-week postoperative photograph in (B) shows normal ocular alignment with symmetrical corneal light reflexes.

A

B

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A

B

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C

Figure 19-17  Left Duane syndrome. A, Right gaze. While the left eye is noted to move into adduction, retraction of the globe is noted along with narrowing of the palpebral fissure. The globe retraction and lid changes are due to co-contraction of the medial rectus and lateral rectus muscles on the involved side. B, Fixation target directly in front of patient. The patient is noted to maintain a slight left head turn to keep both of the eyes on the fixation target. The resting position of the affected left eye is slightly in adduction. If the patient’s head is forced out of the slight left head turn, the left eye would become slightly esotropic. C, Left gaze. The affected left eye is seen to have an absence of abduction resulting from aberrant innervation of the lateral rectus muscle with no contraction in left gaze.

right or left gaze. Observation of symmetrical corneal light reflexes or cover testing confirms or excludes the presence of a true deviation.

Exodeviations When the visual axes are divergent, an exodeviation is present (Fig. 19-20). Many children with exodeviations have family histories of strabismus. Exodeviations may also occur with vision loss in one eye (sensory exotropia) and cranial nerve paralysis (third nerve palsy). An exodeviation may be controlled by fusion (exophoria), be manifest intermittently (intermittent exotropia), or be constant (exotropia). Intermittent exodeviations become manifest with fatigue, daydreaming, or illness. Patients with exodeviations frequently squint one eye in bright light, but they typically do not experience diplopia. They may complain of images jumping as they switch fixation or of discomfort at night or when tired. Patients with intermittent exotropia usually do not have amblyopia, or it may only be mild. One third of cases improve spontaneously. Treatment of intermittent exotropia consists of glasses to correct refractive errors, patching, and surgery. If there is poor vision in one eye, the decreased visual stimulation may produce a sensory deviation. Generally speaking, if the onset of decreased vision occurs after the age of 4 years, an exodeviation will occur; however, if sensory input to the eye is decreased before the age of 2 years, an esode­ viation usually occurs. Because young children do not complain of monocular vision loss, especially if congenital or with onset during infancy, sensory strabismus is frequently the presenting sign of vision-limiting pathology of the retina or optic nerve.

Exodeviations may be simulated in patients with widely spaced eyes (hypertelorism) or in those whose maculae are temporally displaced, as may occur in retinopathy of prematurity. When the macula is displaced temporally, the eye rotates outward to align its visual axis on the fixation target. The term positive angle kappa is used to describe this condition (Fig. 19-21). Convergence Insufficiency Convergence insufficiency describes an exodeviation in which the size of the deviation is greater in the near range than at distance. Most frequently, there is an exodeviation at near only PSEUDOSTRABISMUS The eyes appear to be esotropic but they are not. The appearance of esotropia is due to the presence of a wide and flat nasal bridge, prominent epicanthal folds, and decreased intraorbital distance.

The pupillary light is centered. Cover testing shows no movement of eyes.

In left gaze, the white of the sclera is covered by the inner canthal tissue. It appears as if the right eye is esotropic but the light reflex remains centered in the pupil.

Figure 19-18  This infant has pseudostrabismus, caused by a flat nasal bridge, epicanthal folds, and closely placed eyes.

The same may be true for right gaze. Figure 19-19  The characteristics of pseudostrabismus are illustrated.

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Figure 19-20  Exotropia, a divergent deviation of the eyes.

and no distance deviation. This may cause symptoms of discomfort while reading and possibly intermittent double vision at near range. To test for convergence insufficiency, the child is asked to fixate on a target with detail as it is brought progressively closer. Normally the child should be able to converge to a point 10 cm from the nose. If the eyes converge, and then break their alignment and diverge at a distance greater than 10 cm from the eyes, the patient should be evaluated for convergence insufficiency. With cover and uncover testing an exodeviation will be seen at near fixation and it will

ANGLE KAPPA Positive angle kappa produces an appearance of exotropia. This appearance is caused by a temporal displacement of the fovea, usually due to cicatricial changes of the retina after retinopathy of prematurity.

The left eye appears exotropic. Cover testing shows no movement of the eyes. Normal vascular pattern

Fovea

Figure 19-22  Left third nerve palsy with ptosis and an inability to elevate and adduct the eye.

be smaller or not seen at distance fixation. Treatments include glasses and in some cases convergence exercises and therapy. Third (Oculomotor) Cranial Nerve Palsy The third cranial nerve innervates the medial rectus muscle. In third nerve paralysis the action of the lateral rectus muscle, innervated by the sixth cranial nerve, is unopposed and produces an exodeviation. The third nerve also innervates the superior and inferior recti; the inferior oblique muscles; the levator palpebrae superioris, which elevates the lid; the ciliary muscle, which is responsible for accommodation of the lens; and the iris sphincter muscle, which produces miosis of the pupil. In the presence of a complete third cranial nerve palsy, the eye assumes a down and outward position, the eyelid is ptotic, and the pupil is enlarged (Fig. 19-22). Elevation of the eye with forced eyelid closure (the Bell phenomenon) is typically absent in patients with a third cranial nerve palsy (Fig. 19-23). The most common causes for acquired third nerve paralysis in children are trauma and tumor. A third nerve palsy may also occur as a congenital defect.

Vertical Deviations Isolated vertical misalignment of the eyes is uncommon. Vertical deviations may occur in only one field of gaze, or they may be comitant and equal in all fields of gaze. Vertical THIRD CRANIAL NERVE PALSY

Straightened vessels due to resolved ROP Temporal retinal cicatricial changes after resolution of stage 3 ROP have caused the fovea to be displaced temporalward.

A patient with left third cranial nerve palsy will not have a Bell phenomenon on the affected side. The forced opening of tightly closed eyelids will reveal an upward, slightly outward movement of the eye under the closed eyelids (normal Bell response). The patient with a third cranial nerve palsy cannot elevate or adduct the eye. The eye, when opened or under forced eyelid closure, is not elevated.

Angle kappa

The fovea has been displaced and retains fixation. The eye therefore rotates outward to focus light on the fovea. The eye appears exotropic but is not.

Figure 19-21  Angle kappa. ROP, retinopathy of prematurity.

Figure 19-23  Third cranial nerve palsy.

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Figure 19-24  Left fourth nerve palsy with an inability to depress the involved eye in adduction. Abnormal head posture is common with a head tilt away from the side of the fourth nerve palsy, as is overaction of the direct antagonistic inferior oblique muscle, seen as an elevation of the affected eye in adduction (gaze to the opposite side).

deviations may have a cyclotorsional component and be associated with a head tilt or head posture to eliminate double vision. All patients with torticollis should be evaluated for cyclovertical muscle palsies. The most common cyclovertical deviation is due to a palsy of the fourth cranial (trochlear) nerve (Fig. 19-24). Fourth nerve palsies in children occur congenitally or secondary to head trauma. The eye is excyclorotated, and the head is tilted to the shoulder opposite the side of the paretic nerve and superior oblique muscle. Other features are elevation of the eye and difficulty depressing the eye in adduction (Fig. 19-25). Patients with fourth nerve palsies have diplopia in the contralateral field of gaze, especially up and away from the paretic side. Patients with congenital palsies may not always

A

B

C Figure 19-25  Right inferior oblique overaction. In primary (straight ahead) gaze (A) and right gaze (B) the eyes are well aligned. In left gaze (C) the right eye is elevated or hypertropic because of overaction of the right inferior oblique.

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Figure 19-26  Brown syndrome, an inability to elevate an eye in adduction resulting from an abnormality of the superior oblique tendon.

recognize this diplopia. Some facial asymmetry, especially of the cheek and jaw line, is usually seen in congenital cases as the children age. Examination of candid photos will typically display head postures that usually are not noticed by family members. Brown syndrome describes an isolated motility disorder in which there is an inability to elevate the eye when it is adducted (Fig. 19-26). This may be caused by a congenital anomaly of the superior oblique tendon, or it may be acquired as an idiopathic inflammation or tenosynovitis of the superior oblique tendon. Acquired cases may be persistent, resolve spontaneously (sometimes over many years), or respond to nonsteroidal antiinflammatory drugs. Abnormalities of extraocular muscle innervation rarely cause vertical deviations. Double elevator palsy is an inherited unilateral or bilateral condition in which there is hypotropia and limitation of elevation of the involved eye. To achieve binocularity, patients tilt their chins up and position their heads back. Ptosis is frequently present. Additional causes of vertical deviations include myasthenia gravis, thyroid ophthalmopathy, chronic progressive external ophthalmoplegia, orbital fractures with muscle entrapment (most commonly the inferior rectus entrapped within a blowout fracture of the orbital floor), and orbital disease with intraorbital masses.

Tests for Strabismus Although gross observation may detect the majority of cases of strabismus, pseudostrabismus will lead frequently to unnecessary referrals. More significantly, smaller angle deviations may be missed, leading to delays in treatment if further tests for strabismus are not employed by the primary care physician. The type and degree of ocular misalignment may be estimated using the corneal light reflex test, or Hirschberg method. The patient fixates on a penlight held at 1 m. Using the pupil edge as a point of reference, the light reflections between the two eyes are compared for symmetry; if the light reflex is displaced temporally in one eye compared with the reflex seen in the other eye, an esotropia is present. If the light reflex is displaced nasally in comparison with the other eye, an exodeviation is present (Fig. 19-27). Although observation of the corneal light reflexes is more sensitive and specific than gross observation alone, a more accurate method of detecting misalignment of the eyes is cover and uncover testing. The cover test requires vision in each eye and use of a target that stimulates accommodation. Cover testing is performed while the patient maintains fixation on targets at 6 m and at 1 m because some types of strabismus produce misalignment of the eyes that is present only at either distance or near. The cover–uncover test is used to detect phorias. This test is

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HIRSCHBERG TEST FOR OCULAR ALIGNMENT A penlight is held 1 meter from the eyes. The pupillary light reflex is observed and its relationship to the center of the pupil is noted.

amblyopia may be caused by a corneal opacity, a dense cataract, vitreous opacity (hemorrhage or inflammation), or high refractive error (Fig. 19-30). In anisometropic amblyopia an image is clearly focused on the fovea of one eye, but in the other eye the image is out of HETEROPHORIAS Normally, both eyes appear to be aligned and centrally fixed.

Normal corneal light reflex The reflexes are symmetrical and slightly displaced nasally to the center of the pupils.

Exophoria Cover one eye—that eye deviates away from the other eye. Left esotropia The reflex is displaced temporally to the center of the pupil.

The cover is then removed—the now uncovered eye returns to a central position.

Left exotropia The corneal light reflex is displaced nasally to the center of the pupil. Figure 19-27  Hirschberg test for ocular alignment.

performed by placing a cover over one eye to disrupt fusion or binocularity. As the cover is removed, the previously covered eye is observed. If the eye does not move, both eyes are aligned on the object at that distance; orthophoria is present. If the eye deviates while covered and then moves to regain fusion and assumes fixation as the cover is removed, a phoria exists. The test is then repeated, covering and uncovering the other eye (Fig. 19-28). The second component of the cover test is performed by covering one eye and observing the movement of the other eye. If neither eye moves as the eyes are alternately covered, the eyes are both aligned on the fixation target and the term orthophoria is used. No deviation is present in this case. If a tropia and a fixation preference are present, a fixation movement of the deviating uncovered eye occurs when the preferred fixating eye is covered; when the cover is transferred back, the previously deviating eye again deviates behind the cover (Fig. 19-29). If a deviation is well controlled by fusion (a phoria) and is small in size, it may be safely observed if there are no symptoms and the fundus is normal. When a tropia is present, either constantly or intermittently, after 3 months of age, the patient should be referred to an ophthalmologist. Ophthalmologists use prisms along with cover testing to measure the size of strabismic deviations.

Amblyopia Amblyopia is present when there is a decrease in vision in one or both eyes and all potential organic causes (refractive errors, media opacities, structural abnormalities) for the decrease in vision have been corrected or excluded. Amblyopia may be caused by the absence of stimulation of the immature visual system by a focused retinal image or by strabismus and the resultant suppression of one eye. Visual deprivation

The same procedure is then performed on the other eye. Esophoria Cover one eye—that eye deviates toward the other eye.

The cover is then removed—the now uncovered eye returns to a central position.

The same procedure is then performed on the other eye. Hyperphoria Cover one eye—that eye deviates superiorly.

The cover is then removed—the now uncovered eye returns to a central position.

The same procedure is then performed on the other eye. Figure 19-28  The cover–uncover test for heterophorias.

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HETEROTROPIAS In esotropia, one eye is deviated toward the other. Note that the corneal light reflex is not centrally placed.

Cover the esotropic eye—there is no movement of either eye.

The cover is then removed—again, there is no movement of either eye—no proof of tropia.

The other eye is now covered—as a result, that eye becomes esotropic and the formerly esotropic eye moves to a central position to take up fixation.

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The severity of the visual loss produced by amblyopia is determined by the nature of the visual deprivation; the age at onset; and its consistency, severity, and duration. Amblyopia is treated by removing the cause of the amblyopia, if possible, and by forcing use of the affected eye to stimulate the development of the vision from that eye. In bilateral ametropic amblyopia, the appropriate glasses are given as treatment. In strabismic or anisometropic amblyopia, appropriate glasses are given, and the preferred, nonamblyopic eye is penalized to force the use of the amblyopic eye. An occlusion patch placed over the preferred fixating eye is commonly used as treatment. Other methods of treatment are optical via the eyeglass prescription and pharmacologic, with atropine drops placed in the nonamblyopic eye to prevent accommodation in that eye. This forces the use of the amblyopic eye for reading and near vision. Amblyopia responds most rapidly and completely to treatment begun early in life. The visual system has developmental phases and if certain levels of visual acuity are not reached early in life the amblyopia present is unlikely to respond completely to treatment. Treatment is more difficult and less effective after 8 years of age but remains possible in older children, especially if they have no history of previous treatment.

DISEASES OF THE EYES AND SURROUNDING STRUCTURES If the cover is removed and no eye movement occurs, this indicates that the eyes have equal visual acuity or fixation. This also indicates a relative absence of amblyopia.

If the cover is removed and both eyes move so that the original fixing eye is again centrally fixed and the originally esotropic eye is again esotropic, this indicates that there is amblyopia present. In this case, the patient’s left eye is amblyopic.

The same maneuvers can be used to determine the presence of exotropia (outward deviation), hyper- and hypotropia (upward and downward deviation), and cyclotropia (rotary displacement). Figure 19-29  The cover–uncover test for heterotropias.

focus. The blurred retinal image is suppressed by the child’s immature visual system, and that eye is affected by amblyopia. In anisometropic amblyopia, most commonly one eye is more hyperopic than the other. Because both eyes must accommodate the same amount, the less hyperopic eye is preferred and the more hyperopic eye has the blurred image and develops the amblyopia. With high hyperopia or astigmatism affecting both eyes, bilateral ametropic amblyopia may occur if the child does not or cannot accommodate to produce a focused retinal image to stimulate the visual system with either eye. These patients have decreased vision in both eyes. In children with strabismus, the image from the deviating eye is suppressed by the brain as an adaptation to avoid diplopia and the deviating eye develops strabismic amblyopia. Patients often have both strabismus and anisometropia simultaneously as causes for their amblyopia.

Eyelids and Adnexa—Anatomy of the Eyelid The eyelid is composed of skin and its related appendages, glands that contribute to the tear film, and muscular structures permitting the eyelid to open and close (Fig. 19-31). Conditions affecting the eyelid are related to these anatomic structures. Telecanthus refers to an increase in the distance between the inner canthus of each eye (Fig. 19-32). Telecanthus can be due to the hereditary transmission of facial features or midline embryonic defects, or it can be related to a syndrome such as blepharophimosis, or Komoto syndrome (Fig. 19-33). This inherited syndrome consists of telecanthus, epicanthus inversus (a skinfold projecting over the inner angle of the eye and covering part of the canthus, arising from the lower lid skin), blepharophimosis (horizontal shortening of the lid fissure), and ptosis. Hypertelorism refers to an increase in the distance between the nasal walls of the orbits. This is usually associated with telecanthus. Blepharoptosis, or ptosis, is a unilateral or bilateral decrease in the vertical distance between the upper and lower eyelids (palpebral fissure) because of dysfunction of the levator muscle (Fig. 19-34). Congenital blepharoptosis is frequently transmitted as an autosomal dominant trait with variable penetrance. Congenital ptosis may be either unilateral or bilateral. Other causes for blepharoptosis include ocular inflammation, chronic irritation of the anterior segment of the eye, chronic use of topical steroid eye drops, third nerve palsy, and trauma. Ptosis may be severe enough to cause visual deprivation and amblyopia if the visual axis is occluded. Children with even mild degrees of congenital ptosis should be referred for evaluation because they have a higher than normal incidence of strabismus and anisometropic amblyopia than the general population. In congenital ptosis the eyelid position may improve somewhat from that observed early in infancy, but after that it tends to remain stable or worsen only slightly over time. The Marcus Gunn, or jaw-winking, phenomenon is caused by a misdirection of the motor division of the fifth cranial nerve to the ipsilateral levator muscle of the eyelid (Fig.

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AMBLYOPIA

Ametropic (bilateral)

Strabismic

Deprivation

Anisometropic

Figure 19-30  Amblyopia is produced either by the absence of a focused retinal image (ametropic, deprivation, or anisometropic) or by suppression of a diplopic image (strabismic).

Fat Levator palpebrae superioris Levator aponeurosis Müller’s muscle Accessory lacrimal gland

Orbicularis muscle

Cul-de-sac Skin Bulbar conjunctiva Gland of Zeis

Tarsal conjunctiva Meibomian gland

Cilia

Tarsal plate

Figure 19-31  Eyelids and adnexa. Cross-section of the eyelid.

19-35). With jaw movement to the ipsilateral side the eyelid droops, and when the jaw is moved to the contralateral side, the eyelid elevates. The eyelid winks with chewing or feeding. This is a benign phenomenon and no further neurologic or systemic evaluation is required. Surgical treatment is not indicated unless the associated ptosis warrants it. Most patients learn to control the winking by avoiding the inciting jaw movement. Trichiasis is the term used to describe misdirected eyelashes that irritate the cornea or conjunctiva. It can be caused by chronic inflammation of the eyelids, entropion (inturning of the eyelid), eyelid trauma, or inflammatory conditions with scarring of the conjunctiva such as Stevens-Johnson syndrome. Districhiasis describes a condition in which there is an accessory row of eyelashes (cilia) along the posterior border of the eyelid (Fig. 19-36). Eyelid eversion or ectropion frequently coexists because of defects in the tarsal plate. This condition is inherited as an autosomal dominant condition, but it may also be a sequela of severe ocular inflammation. Entropion is an inverted eyelid with the lashes rubbing against the conjunctiva or cornea. This may be present at birth or occur with severe blepharospasm, inflammation, or trauma. If severe, abrasion of the cornea by the lashes can cause permanent corneal scarring (Fig. 19-37). In epiblepharon a skinfold extends over the lid margin and presses the lashes against the globe. It is commonly observed during the first year of life (Fig. 19-38). The lower lid is more commonly affected in the white population, and both the upper and lower lids may be affected in Asian infants. This defect usually corrects itself spontaneously by 1 year of age. In Asians the problem may be persistent. Corneal abrasion usually does not occur because of the soft texture of the infant’s eyelashes or when it is the shaft of the eyelash rather

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D C A = Intracanthal distance (telecanthus) B = Intraorbital distance (hypo/hypertelorism) C = Interpupillary distance D = Outer canthal distance E = Palpebral fissure length

A B E

97%

cm

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75% 50% 25%

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1.5 0

Outer canthal distance

Inner canthal distance

in

in

cm

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10

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9

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6 12 18 2 4 6 8 10 12 14 Months

97% 75% 50% 25% 3%

0

Years

6 12 18 2 4 6 8 10 12 14 Months

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cm

97% 75% 50% 25% 3%

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5

1.75 1.5

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in

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Interpupillary distance

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2.6 2.4 2.2 2.0 1.8 1.6 1.4 1.2

6 12 18 2 4 6 8 10 12 14 Months

Years Age

32 34 36 38 40 0 1 2 3 4 5

Years

Gestational age (weeks)

Age

Age (years)

Figure 19-32  Normal adnexal measurements.

Figure 19-33  Komoto syndrome, a combination of blepharophimosis, ptosis, epicanthus inversus, and telecanthus.

Figure 19-34  Unilateral congenital ptosis with lid covering pupil.

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A

B

Figure 19-35  Marcus Gunn jaw-winking ptosis. A, The ptotic lid position. B, Elevation and a wide-open lid with movement of the jaw.

than the tip of the lash that touches the cornea. However, surgical correction may be required if it is persistent and causing corneal abrasion; conjunctival injection, epiphora, and photosensitivity are symptoms in more significant cases. Ectropion is an outward rotation of the eyelid margin. If severe, ectropion can lead to problems of corneal exposure. Ectropion may be congenital or caused by any condition (trauma, scleroderma), causing the eyelid skin to contract and evert the eyelid (Fig. 19-39). Ectropion may occur after seventh cranial nerve palsy with paralysis of the facial musculature. Congenital eyelid colobomas are defects or notches in the eyelid margin caused by failed fusion of embryonic fissures early in development. These may be isolated defects or asso­ ciated with conditions such as Goldenhar syndrome (Fig. 19-40). Goldenhar syndrome consists of eyelid colobomas, corneal–limbal dermoids, vertebral anomalies, and preauricular skin tags. Ankyloblepharon is a fusion of the upper and lower eyelid margins. This may range from a few thin strands of tissue to complete fusion of the lids. The majority of cases are mild, isolated anomalies and no further evaluation is required. Treatment is by separating the lids, by simple eyelid opening if only threadlike strands are present, or with scissors if necessary. Children may frequently have a low-grade inflammation of the eyelid margin, chronic blepharitis, caused by Staphylococcus infection of the oil glands of the lid margin. Blepharitis may be associated with seborrhea or allergies and occurs

Figure 19-36  Distichiasis, a double row of lashes. One row, directed toward the cornea, arises from the meibomian gland orifices. The second row is directed outward in the normal position.

commonly in children with Down syndrome. Symptoms include crusting of the lashes, itching, light sensitivity, and irritation of the lids. The lashes may be matted and adherent in the morning. If the condition is chronic and severe, thickening of the eyelid and misdirection of the eyelashes to such a point that they may invert and irritate the cornea or conjunctiva may occur (Fig. 19-41). Complications include ulceration of the lid margin, abscess or hordeolum formation, chronic conjunctivitis, and keratitis (corneal irritation and inflammation). A hordeolum is an inflamed gland of Zeis at the base of the cilia (Fig. 19-42). This produces painful swelling and erythema of the eyelid. These lesions are commonly called styes. Infection, frequently with Staphylococcus, may occur. Some discharge may be seen. Rarely, preseptal cellulitis may occur as a complication. A chalazion is a chronic granulomatous inflammation of the meibomian glands within the tarsal plate. Painless swelling and redness of the eyelid result from distention of the gland and the inflammatory response caused by the retained glandular secretions. The gland may spontaneously rupture either to the conjunctival surface or externally to the skin (Figs. 19-43 and 19-44). Spontaneous resolution may occur; however, tissue reaction may persist and leave a firm mass within the lid. The mainstay of treatment of hordeolums and chalazions is frequent application of warm compresses. Topical antibiotics may be used, as well as systemic antibiotics if secondary infection or cellulitis appears to be present. Some patients may be affected by multiple, recurring lesions. Surgical excision of the lesions may be required if chronic or inflamed in order to prevent drainage through the skin surface with scarring of the skin or possible permanent loss of lashes if the lid margin is severely affected. Primary herpes simplex infection may affect the periocular skin and eye (Fig. 19-45). This is characterized by small skin vesicles, affecting the conjunctiva or cornea frequently unilaterally, with an associated mild conjunctivitis and punctate keratitis. Although self-limited, herpes simplex should be treated with topical antivirals to prevent scarring from keratitis. Systemic antivirals may also be used, and if given early, they may reduce the number and duration of lesions. Recurrence or reactivation unfortunately is not prevented by treatment of the primary infection. Chronic systemic treatment may be employed if recurrences are frequent. Varicella produces eyelid swelling and vesicular skin eruptions, usually without subsequent scarring. Conjunctival vesicles and keratitis may also occur, and topical antibiotics are

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A

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B

Figure 19-37  Congenital entropion of the right upper lid. The lid is inverted, and the lashes and skin rest on the corneal surface. A, The eyelid is propped up with a cottontipped applicator, displaying the area of skin inverted against the eye. The povidone-iodine prep solution has not coated the affected area of the lid. B, With the upper lid everted and the lids held widely open, extensive corneal scarring caused by the abrasion from the inverted skin and lashes is seen.

Figure 19-38  Epiblepharon. The eyelashes are rotated inward against the globe.

Figure 19-39  Ectropion of the left lower lid resulting from scleroderma. The lower eyelid skin has become contracted, causing eversion of the lower eyelid.

Figure 19-40  Goldenhar syndrome with eyelid coloboma and corneal–limbal dermoid.

Figure 19-41  Blepharitis. Thickened lids with crusting of the lashes.

Figure 19-42  Acute hordeolum of the eyelid (pointing externally) with swelling, induration, and purulent contents.

Figure 19-43  Chalazion. Usually, but not always, painless. The lesion may point externally to the skin side or internally to the underside of the lid.

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Figure 19-44  Chalazion of the left lower lid, pointed internally. A pyogenic granuloma consisting of a vascularized mound of conjunctival tissue has developed over the chalazion because of spontaneous rupture of the chalazion under the palpebral conjunctiva with a hypertrophic healing response of the conjunctiva.

indicated to prevent secondary bacterial infection. Systemic antivirals may shorten the course and severity of the outbreak if given very early in the course of infection. Herpes zoster is uncommon in children. If present, zoster should be treated as early in its course as possible in order to promote healing and to prevent zoster-associated hyperesthesias. A lesion on the tip of the nose indicates involvement of the ophthalmic division of the maxillary nerve and possible involvement of the eye with keratitis, uveitis, and glaucoma. Another common eyelid lesion found in children is caused by molluscum contagiosum (see Chapter 8). Molluscum is characterized by elevated, 1- to 2-mm umbilicated lesions of the eyelid skin. If the lesions involve the eyelid margin, they may cause an associated keratoconjunctivitis. Molluscum should be considered in the differential diagnosis of chronic conjunctivitis. Phthiriasis—infestation of the lashes with the crab louse Phthirus pubis—manifests as a crusty appearance of the lid margin. Closer inspection reveals egg cases and the adult louse (Fig. 19-46). Ophthalmic ointment, almost any type, suffocates the organisms. Phthiriasis may also produce chronic conjunctivitis, and the lashes should be carefully examined in cases of chronic recurring conjunctivitis.

Figure 19-46  Infestation of the eyelashes with the crab louse Phthirus pubis. The lid margin has a crusty appearance because of the presence of adult organisms and eggs adherent to the eyelashes. The salivary material of the parasites results in toxic and immunologic reactions that cause itching and burning of the eyes.

meibomian glands contribute to the tear film. During the first month of life the eye remains moist, but reflex tearing, or tearing resulting from emotion, does not occur until the second month of life or early in infancy. Disorders of the lacrimal gland are rare in children. Acute dacryoadenitis may occur with viral infections, most frequently mumps (Fig. 19-48). Chronic diseases such as sarcoid, Hodgkin disease, leukemia, and mononucleosis may produce lacrimal gland swelling with a palpable mass in the upper outer portion of the orbit. Lacrimal gland

Accessory lacrimal glands in cul-de-sac Nasolacrimal sac

Lacrimal Gland and Nasolacrimal Drainage System Reflex tears are produced by the lacrimal gland, whereas the basal secretion of tears comes from the accessory lacrimal glands (Fig. 19-47). Secretions from the glands of Zeis and the

Superior punctum Inferior punctum Superior canaliculus Inferior canaliculus Nasolacrimal duct Usual site of congenital nasolacrimal duct obstruction

Inferior turbinate Figure 19-45  Primary herpes simplex infection involving the periocular area. Primary infection is frequently associated with a mild diffuse keratoconjunctivitis; dendritic corneal lesions are uncommon in primary infections.

Nasal cavity Figure 19-47  Lacrimal secretory and collecting system.

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Figure 19-48  Dacryoadenitis. The lacrimal gland has become swollen and inflamed and is visible beneath the lateral aspect of the upper eyelid. The swelling is frequently accompanied by symptoms of pain and tenderness.

The tears are drained from the eye by the superior and inferior puncta, which connect to the superior and inferior canaliculi (see Fig. 19-47). The canaliculi may unite into a common canaliculus before they enter the nasolacrimal sac, or they may enter the sac separately. The medial canthal tendon is anterior and superior to the nasolacrimal sac. Disorders of the lacrimal sac are then seen primarily inferior to the medial canthus unless there is an overlying cellulitis. The sac is connected to the nasolacrimal duct, which is located in the nasal bone. The distal portion of the nasolacrimal duct enters the nasal antrum beneath the inferior turbinate. Stenosis or obstruction of the nasolacrimal duct is present in 30% of newborns (Fig. 19-49). The obstruction is usually caused by a membranous obstruction of the nasolacrimal duct. Obstruction may also be caused by the inferior turbinate within the nose. Signs include tearing and mucopurulent discharge, which usually begins 3 to 5 weeks after birth. The absence of conjunctival injection differentiates this condition from conjunctivitis. A helpful diagnostic technique is to apply gentle pressure over the nasolacrimal sac to cause reflux of tears and mucopurulent material from the sac. Spontaneous resolution of the obstruction is common before 6 to 8 months of age. If the obstruction has not cleared by this age, spontaneous resolution is much less likely and the patient should be referred for probing of the nasolacrimal duct. If left past 13 months of age, the recurring infections may cause scarring and stenosis of the nasolacrimal duct, which may require more complicated procedures for treatment. If both the nasolacrimal duct and the canaliculi entering the sac are obstructed at birth, a bluish firm mass may be present or develop in the area of the nasolacrimal sac

Figure 19-49  Nasolacrimal duct obstruction. Mucopurulent discharge and tearing (epiphora) are present.

Figure 19-50  Congenital nasolacrimal sac mucocele presents shortly after birth as a bluish mass below the medial canthal tendon.

(congenital nasolacrimal sac mucocele or dacryocele) (Fig. 19-50). These patients should be referred promptly because of the risk for development of infection and cellulitis. Other congenital defects of the nasolacrimal collecting system include absence of the puncta or accessory puncta with fistulas from the nasolacrimal sac to the overlying skin. Obstruction of the nasolacrimal system may also occur secondary to infections such as viral conjunctivitis, trachoma, tuberculosis, or fungal infections. Dacryocystitis, an infection and inflammation of the lacrimal sac and passages, may spread to the surrounding tissues, producing a periorbital cellulitis. Acute dacryocystitis is usually due to bacterial infection (Fig. 19-51).

Conjunctiva The conjunctiva is a mucous membrane that covers the posterior aspect of the eyelids. It is reflected into the cul-de-sac and extends onto the globe, where it fuses to the sclera at the corneal scleral limbus. The conjunctiva has goblet cells that contribute mucin to the tear film. When the eyelids are closed, the oxygen supplied by the blood vessels of the conjunctiva is responsible for maintaining oxygenation of the cornea. Conjunctivitis refers to inflammation of the conjunctiva. Infections of the conjunctiva may be bacterial or viral. The etiology of neonatal conjunctivitis is related to the time of onset. Neonatal conjunctivitis occurring within the first day or two of life is usually due to the use of Credé prophylaxis for gonococcal ophthalmia neonatorum. One percent silver nitrate solution may cause a mild chemical conjunctivitis that

Figure 19-51  Acute dacryocystitis caused by bacterial infection of the nasolacrimal sac associated with nasolacrimal duct obstruction. The infection of the nasolacrimal sac has spread to the surrounding tissues, producing a cellulitis.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 19-52  Ophthalmia neonatorum, a hyperacute bacterial conjunctivitis, with thick purulent discharge and red swollen lids. Figure 19-54  Papillary conjunctivitis of bacterial or allergic origin.

spontaneously resolves within 1 or 2 days. This is essentially never seen now in the United States, as erythromycin ointment has completely replaced the use of silver nitrate. Neonatal conjunctivitis occurring 2 to 4 days after birth and accompanied by a copious purulent discharge, either with or without corneal involvement, may be caused by gonococci (Fig. 19-52). All cases of neonatal conjunctivitis are emergencies and must be evaluated by an ophthalmologist. Aerobic, anaerobic, and viral cultures must be obtained because corneal involvement, particularly with gonorrhea, may lead to corneal scarring or perforation. With Pseudomonas infection corneal perforation may occur within hours of presentation. Infectious neonatal conjunctivitis occurring after 8 days (but before 2 weeks) and accompanied by a watery discharge is often due to chlamydiae. Other common pathogens include Staphylococcus, Streptococcus, and Enterococcus. Conjunctivitis is usually contracted after early rupture of membranes or during passage through the birth canal. The conjunctiva has a limited variety of responses to infection or inflammation. Inflammation of the conjunctiva results in the formation of follicles or papillae. A follicle is an aggregate of lymphocytes with an avascular center and a peripheral vascular network (Fig. 19-53). Newborns seldom develop follicles because lymphoid tissues have not yet developed. Viral infections frequently lead to follicular reaction. Papillae are small, raised nodules with a central vascular core (Fig. 19-54). They may be located on the tarsal surface of the upper and lower eyelids. Papillae may become large, measuring 1 to 2 mm in diameter if inflammation is chronic. Papillae are the conjunctiva’s response to bacterial or allergic conjunctivitis. Giant papillae may be produced by the continuous irritation caused by contact lens wear. Differentiation of a follicular response from a papillary response is frequently difficult, and differentiating viral conjunctivitis from bacterial conjunctivitis without cultures is not always definite.

Bacterial conjunctivitis may be acute or chronic. Acute conjunctivitis is painful, with lid edema and keratitis. The bulbar conjunctiva swells (chemosis) and becomes hyperemic (injection). Corneal ulceration may occur as a complication. Children with viral conjunctivitis frequently develop secondary bacterial conjunctivitis. Acute bacterial conjunctivitis is usually due to staphylococcal, pneumococcal, or Haemophilus infections. Mucopurulent discharge is associated with tearing, and the eyelids may be stuck together on awakening (Fig. 19-55). Chronic bacterial conjunctivitis results from bacterial toxins of Staphylococcus aureus; Proteus organisms; Moraxella organisms; or, in Third World countries, trachomata. A foreign body sensation may be experienced, and the eyes may be hyperemic with a chronic, mucopurulent or watery discharge. Papillary hyperplasia and thickening of the conjunctiva may also occur. Viral conjunctivitis is usually caused by various strains of adenovirus (Fig. 19-56). Signs include copious tearing with a watery or thin mucopurulent discharge, conjunctival redness, and preauricular lymph node enlargement. Viral conjunctivitis is self-limited and usually resolves in 7 to 10 days depending on the viral strain. Viral conjunctivitis is highly contagious. Certain strains of adenoviral conjunctivitis may cause epidemic keratoconjunctivitis (EKC), which produces corneal involvement with a punctate keratitis that progresses to subepithelial infiltrates (Fig. 19-57) as an immunologic reaction. Patients are contagious only early in their course. Because of the corneal involvement, symptoms of photophobia are more pronounced, and when subepithelial infiltrates are present patients complain of glare and decreased visual acuity. Symptoms in EKC may last from weeks to months. The infiltrates eventually resolve spontaneously. Steroids may alleviate symptoms; however, they prolong the overall course.

Figure 19-53  Follicular conjunctivitis of viral origin.

Figure 19-55  Acute bacterial conjunctivitis. Copious amounts of mucopurulent discharge have made the upper and lower eyelids adherent to each other. Chemosis of the upper and lower lids may also make opening of the eyelids difficult.

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Figure 19-56  Viral conjunctivitis with hyperemia and a watery discharge.

Allergic conjunctivitis occurs as a hypersensitivity response to dust, pollens, animal dander, or other airborne allergens. The eyes exhibit copious tearing, itching, and photophobia. The eyelids and palpebral conjunctiva are hyperemic and edematous (see Chapter 4). The development of extensive chemosis of the conjunctiva may be sudden and rapid. The conjunctiva may swell to protrude between the eyelids or obscure part of the cornea over the course of hours. A similar rapid development of chemosis may occur with viral conjunctivitis. Simple treatment with cold compresses usually leads to improvement over several hours, and there are no significant sequelae. If the symptoms produced by allergic conjunctivitis are mild, no treatment is required because the child may object more to the use of the drops than to the discomfort of the disease. Allergic conjunctivitis may become chronic with repeated exposure to the allergen. In cases of chronic allergic conjunctivitis, the conjunctiva becomes pale and boggy and demonstrates a papillary reaction. Rare complications include keratitis in advanced cases called limbal vernal keratoconjunctivitis. Phlyctenular conjunctivitis is the result of a cell-mediated hypersensitivity reaction (Fig. 19-58). Phlyctenular lesions are small, pinkish-white vesicles or pustules in the center of hyperemic areas of the conjunctiva. These lesions may occur at the limbus; on the conjunctiva; or, more rarely, on the cornea. Phlyctenulosis most commonly occurs in association with chronic staphylococcal infection. Symptoms consist of itching, tearing, and irritation. A mucopurulent discharge may occur if secondary infection is present. Patients with corneal phlyctenulosis have more severe symptoms of pain, light sensitivity, and tearing. Subconjunctival hemorrhages may occur spontaneously, or they may be secondary to coughing episodes, Valsalva maneuvers, or trauma (Fig. 19-59). These appear as striking bright

Figure 19-57  Subepithelial infiltrates of epidemic keratoconjunctivitis (EKC) caused by adenovirus. The beam of the slit lamp is used to demonstrate corneal subepithelial infiltrates (small white opacities). Only certain strains of adenovirus produce subepithelial infiltrates, which are immune reactions to the viral antigens. These may persist for months, causing symptoms of glare and blurring of vision.

751

Figure 19-58  Conjunctival phlyctenule. A raised area of conjunctival infiltration and localized infection is commonly seen at the corneal–scleral limbus. The center of the lesion is clear or white and may ulcerate. Phlyctenules may also occur elsewhere on the bulbar or tarsal conjunctiva or on the cornea. (Courtesy Robert Arffa, MD, Pittsburgh, Pa.)

red discolorations underneath the bulbar conjunctiva. The size and configuration of the hemorrhage depend on the amount and location of the blood between the conjunctiva and the globe. The size of the hemorrhage is not indicative of the severity of an injury, and the hemorrhage itself does not have any visual significance. Spontaneous resolution occurs over the course of several weeks.

Cornea Developmental anomalies of the cornea include sclerocornea, Rieger syndrome, microcornea, and corneal dermoid. Sclerocornea, present at birth, is a rare condition in which the cornea is white and resembles sclera. Rieger syndrome, a variant of anterior segment dysgenesis, is a dominant hereditary disorder that affects development of the anterior segment of the eye. Features include hyperplasia of the iris stroma, pupillary anomalies, anomalies of the trabecular meshwork, and early-onset glaucoma. Microcornea, whether an isolated anomaly or associated with glaucoma, cataracts, iris abnormalities, or anterior segment dysgenesis, is present when the horizontal corneal diameter is 9 mm or less (Fig. 19-60). The developmental abnormalities mentioned necessitate further tests to exclude glaucoma. If the anterior segment of the eye is severely disorganized, the cornea is opaque, or glaucoma exists, surgical reconstruction and repair are indicated. The prognosis for vision is guarded for severe cases. Corneal dermoids occur at the limbus (junction between the cornea and sclera); grow slowly, if at all; and may encroach on the visual axis or cause high degrees of astigmatism

Figure 19-59  Subconjunctival hemorrhage secondary to blunt ocular trauma.

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Figure 19-60  Unilateral microcornea and microphthalmos.

(Fig. 19-61). They are composed of fibrolipid tissue containing hair follicles and sebaceous glands. Corneal dermoids may occur as isolated anomalies or they may be associated with syndromes such as Goldenhar syndrome. The cornea is also involved in many systemic diseases. Hurler syndrome, a mucopolysaccharidosis, produces clouding of the cornea. The cornea, clear at birth, develops an opacification by 2 to 3 years of age. Pigmentary retinopathy and optic atrophy also develop. Cystinosis, seen in the early months of life, involves the deposition of L-cystine in the cornea. This may be seen as a subtle haze of the cornea. Slit-lamp examination is necessary to clearly visualize the corneal deposits (Fig. 19-62). The deposits cause pain, photophobia, and decreased vision. Corneal inflammations are associated with bacterial, viral, mycotic, and allergic diseases. Infectious corneal ulcers usually occur only in the setting of some compromise of the corneal epithelium (e.g., with traumatic corneal abrasion; foreign bodies; exposure keratitis; or contact lens wear, especially sleeping with lenses in place). In the abusive contact lens patient a corneal ulcer may be sterile and caused by the improper use of the lenses. A red, painful eye in a patient with a history of contact lens wear must be evaluated by an ophthalmologist. Infectious corneal ulcers are caused by the invasion of bacterial organisms into the corneal stroma (Fig. 19-63). If the visual axis is involved, scar formation may permanently affect visual acuity. Corneal perforation can occur rapidly in some infections, particularly Pseudomonas, and can result in loss of the eye. Bacteria commonly involved include staphylococci, pneumococci, Moraxella organisms, Pseudomonas aeruginosa, Escherichia coli, and Klebsiella pneumoniae. Acanthamoeba and Fusarium infectious corneal ulcers in

L-cystine

in cornea

crystals

Figure 19-62  Cystinosis of the cornea with deposition of L-cystine crystals in the corneal stroma.

A

B Figure 19-63  Bacterial corneal ulcer. A, The conjunctiva displays a marked inflammatory response with injection, most prominent in the quadrant nearest the corneal ulcer. The ulcer is visualized in the slit beam as a small white infiltrate of the corneal stroma. There is an overlying epithelial defect. B, The epithelial defect is easier to visualize after the application of fluorescein dye. The dye is taken up by the corneal stroma in the area of the epithelial defect. The areas fluoresce with cobalt blue light illumination.

Figure 19-61  Corneal–limbal dermoid, often associated with Goldenhar syndrome.

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Figure 19-64  Herpes simplex keratitis. Infection of the corneal epithelium with herpes simplex virus produces a pattern of fluorescein staining that resembles a neuronal dendrite. The surrounding area may be hazy because of epithelial and stromal edema and infiltration. Conjunctival injection is typically present.

contact lens patients have been recognized and frequently lead to severe vision loss and the need for corneal transplantation. Appropriate smears and cultures are obtained, and treatment is started as soon as possible for corneal ulcers. Herpes simplex may be transmitted from active herpes in the maternal birth canal, or it may result from direct contact with infected individuals. Primary herpes is a unilateral condition that occurs as a blepharoconjunctivitis or as vesicular lesions of the eyelids with regional lymphadenopathy. A few weeks after infection, half of all patients develop a punctate or typical dendritic keratitis (Fig. 19-64). This is best seen using fluorescein stain and a cobalt blue filter over a penlight. Recurrent herpes keratitis occurs in 25% of infected individuals. The lesions may have a typical appearance of branching dendrites. Recurrences may be complicated by stromal keratitis, keratouveitis, and anesthesia of the cornea. Stromal disease is a serious complication that reduces visual recovery because of corneal vascularization and scarring. Patients with a history of herpes keratitis must be evaluated by an ophthalmologist for any unexplained episode of conjunctival injection.

Figure 19-65  Congenital glaucoma. The right cornea is hazy and opaque due to corneal edema. Breakdown of the corneal epithelium has caused ocular irritation, and the conjunctiva is slightly injected. Epiphora is present because of reflex tearing caused by the pain of epithelial breakdown and increased intraocular pressure.

Descemet membrane may rupture and produce Haab striae (Fig. 19-66). A break in the Descemet membrane may produce a corneal opacity, or, if edema is not present, it may be visualized against the red reflex as a line when viewed with a slit lamp or direct ophthalmoscope. Breaks in the Descemet membrane can produce irregular astigmatism. Glare from the scatter of light produced by the epithelial and stromal edema is responsible for photophobia and blinking. Breakdown of the corneal epithelium may produce pain, squinting, and blepharospasm. In children younger than 2 years of age, an increase in corneal diameter frequently accompanies increased intraocular pressure (Fig. 19-67). An infant’s horizontal corneal diameter is normally 9.5 mm; this increases over the first 2 years of life to a normal corneal diameter of 11.5 mm. Small increases in corneal diameter may be recognized first as asymmetries in the corneal diameter between the two eyes. In addition to enlargement of the corneal diameter, chronic elevated intraocular pressure may also enlarge the entire eye. This produces an increase in axial length and a myopic shift in the refraction. A rapid increase in myopia may be a sign of glaucoma. The

Anterior Chamber The term anterior chamber refers to the fluid-filled space between the cornea and the iris diaphragm. The aqueous fluid is optically clear. It provides nutrition for the corneal endothelial surface. The aqueous fluid is secreted by the ciliary processes. It passes through the pupil to the anterior chamber and leaves via the trabecular meshwork in the periphery of the anterior chamber angle where the iris meets the cornea and sclera. Glaucoma The incidence of infantile or congenital glaucoma is approximately 1 in 12,500 births. The inheritance of congenital glaucoma is multifactorial; parents of an affected child have a 5% chance of having another child with glaucoma, and an affected parent has a 5% chance of having a child with congenital glaucoma. Two thirds of all patients are male. Glaucoma can present at birth, but more commonly, clinical signs develop during the first several weeks or months of life. An embryonic defect in the development of the trabecular meshwork or filtration area of the eye has been hypothesized as the cause. Infants with glaucoma have corneal edema, which gives the cornea a hazy or cloudy appearance. Corneal edema may produce an irregular corneal light reflex or dull the red reflex. Initially, the edema may be limited to the epithelium, but stromal edema may follow (Fig. 19-65). As this increases, the

753

Break in Descemet membrane

Iris

Epithelial edema

Corneal stromal edema

Corneal endothelial cells

Figure 19-66  Haab striae (breaks in Descemet membrane).

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Figure 19-69  Typical unilateral iris coloboma in an otherwise normal left eye. Figure 19-67  Congenital glaucoma. This patient has corneal diameter asymmetry resulting from glaucoma in the left eye. The horizontal corneal diameter is 11 mm in the right eye and 13.5 mm in the left eye. The entire left eye has become enlarged, and the axial length is greater than normal. The increase in axial length of the left eye has produced a myopic refractive error.

anterior chamber in infancy is shallow when compared with that of older children. An anterior chamber that is deeper than normal is a sign of congenital glaucoma. Epiphora, or tearing, is a sign of glaucoma and is differentiated from nasolacrimal duct obstruction by the presence of rhinorrhea. When the nasolacrimal duct is obstructed, rhinorrhea is absent. Nasolacrimal duct obstruction is also accompanied by recurrent discharge and infections, whereas glaucoma has clear epiphora only. The optic nerve damage caused by elevated intraocular pressure is reflected in the degree of enlargement of the optic cup (Fig. 19-68). Asymmetry of the cup-to-disc ratio between the eyes or an increase in the cup-to-disc ratio to greater than 0.5 is a possible sign of glaucoma. In infants and young children the intraocular pressure may be elevated for a prolonged period of time before optic disc cupping occurs. Enlargement of the optic cup is reversible to an extent in infants and young children but is permanent when older. Enlargement of the optic cups without glaucoma may be inherited; examination of family members for comparison may be of value. Elevation of intraocular pressure (IOP) is the hallmark of congenital glaucoma. Normal IOP in infants and young children is less than 20 mm Hg. Pressures greater than 25 mm Hg strongly suggest glaucoma. Accurate measurement of pressure is difficult in children. An estimate of the IOP may be obtained by palpating the globes with the fingertips over closed eyelids. More precise measurements are obtained with instruments that require anesthetizing and coming in contact with the cornea. These procedures and decisions regarding the management of IOP

Figure 19-68  Glaucomatous optic atrophy. In glaucoma, excavation extends to the disc edge in contrast to the physiologic cupping that may be seen in myopia, where a normal rim of tissue exists. Retinal vessels emerge from under the cup edge.

may require an examination that is conducted with sedation or under general anesthesia. Unfortunately, some anesthetic agents alter IOP. Glaucoma may occur with congenital ocular malformations such as aniridia or mesodermal (iridocorneal) dysgenesis, in systemic syndromes, or after trauma. Sturge-Weber syndrome, neurofibromatosis, Lowe syndrome, Rubinstein-Taybi syndrome, and congenital rubella syndrome are associated with congenital glaucoma. Patients with chronic uveitis frequently develop glaucoma, and 8% to 25% of children with congenital cataracts, especially those with microcornea or microphthalmia, develop glaucoma at some point in life.

Iris A coloboma results from failed fusion of the embryonic fissure of the optic cup (Fig. 19-69). The defect is usually inferior and nasal in location, and it may involve any ocular structure, most commonly the iris. Colobomas occur either as isolated defects or in association with systemic syndromes. Iris colobomas occur in the CHARGE association, cat-eye syndrome, Rieger syndrome, and the facioauriculovertebral anomalies. Isolated colobomas may be inherited as a dominant trait. Aniridia, an apparent absence of the iris, is caused by failure of the mesoderm to grow outward from the iris root during the fourth month of gestation. The pupil appears the same size as the cornea, and iris structures are present as only rudimentary findings (Fig. 19-70). A fibrovascular membrane can form between the rudimentary iris and the trabecular meshwork and cause glaucoma. Hypoplasia of the macula occurs in patients with aniridia, and visual acuity may be decreased to the 20/400 level. Associated defects include corneal opacities, lens dislocations, and cataracts. Affected patients have photophobia and nystagmus.

Figure 19-70  Aniridia. Iris structures are present only as rudimentary findings, and the red reflex fills the entire corneal diameter. The edge of the lens is visible peripherally, and early cataractous lens changes are present centrally.

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Figure 19-71  Persistent pupillary membranes. Hyperplasia of the mesoderm of the anterior layer of the iris has caused iris strands to become adherent to the anterior lens surface. The lens is clear. These are usually visually insignificant; however, if a plaque is present at the attachment site it may block the visual axis. The pupil may be smaller or less reactive than normal.

An autosomal dominant inheritance pattern is present in two thirds of all patients with aniridia. Approximately 1 in 70 patients with sporadic aniridia will have Wilms tumor, and 90% of these will occur before age 3. Other genitourinary defects and mental retardation may occur, and many of these patients have chromosomal abnormalities (11p-). Persistent pupillary membranes are caused by hyperplasia of the mesoderm of the anterior layer of the iris and are a frequent finding in children born prematurely (Fig. 19-71). Instead of terminating at the pupillary margin, iris strands with accompanying blood vessels encroach on the pupillary space or adhere to the anterior lens surface. They are rarely visually significant and, especially in the premature infant, the iris strands frequently spontaneously release from the lens surface with pupil dilation. Heterochromia iridis, or asymmetry in the color of the iris, is visually insignificant. It may occur as an isolated finding. Heterochromia may develop in congenital Horner syndrome when the affected infant has light-colored irides. As the child ages, the iris in the unaffected eye may darken while the eye with Horner syndrome retains its lighter color. Heterochromia may also occur secondary to inflammation or after intraocular surgery or ocular trauma. Trauma may cause the affected iris to become darker than the fellow iris as late as many years after the incident (Fig. 19-72). The iris may provide signs that aid in the diagnosis of systemic conditions. Patients with neurofibromatosis may have multiple small melanocytic iris nevi, called Lisch nodules, on the surface of the iris (see Chapter 15). These may be identified with magnification provided by the direct ophthalmoscope or by slit-lamp examination. They are of no

755

Figure 19-73  Juvenile rheumatoid arthritis. Band keratopathy, a deposition of calcium, is seen as white scalelike deposits present on the anterior corneal surface. The pupil is not round because of the presence of posterior synechiae and adhesions between the iris and lens; a cataract is present.

visual significance. Other ocular findings associated with neurofibromatosis include plexiform neurofibromas of the lids, thickened corneal nerves, congenital glaucoma, and optic nerve gliomas producing optic atrophy. In chronic anterior uveitis or iritis, for example in association with sarcoidosis or juvenile rheumatoid arthritis, the iris may be affected by adhesions between the papillary border and the lens (posterior synechiae) or between the peripheral iris and the cornea (anterior synechiae). Posterior synechiae cause the pupil to be less reactive in the area of the synechiae and cause the pupil to lose its round shape (corectopia) (Fig. 19-73). Patients with juvenile xanthogranuloma, usually younger than 1 year of age, may develop unilateral asymptomatic fleshy, yellowish-brown tumors on the surface of the iris (Fig. 19-74). These vascular lesions bleed easily and may produce a spontaneous hyphema.

Slit lamp beam

Elevated lesion of JXG Figure 19-72  Horner syndrome (right side) with iris heterochromia. The right upper lid is slightly ptotic, and the right lower lid is slightly higher. Anisocoria is present. The right pupil is smaller than the left. The iris on the side affected by Horner syndrome may be lighter in color than the iris of the fellow eye.

Figure 19-74  Juvenile xanthogranuloma (JXG). The ocular lesion of JXG is visualized as a fleshy, yellowish-brown tumor on the surface of the iris. The lesions are vascular, bleed easily, and can cause spontaneous hyphemas.

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Brushfield spots are found in patients with Down syndrome. The spots consist of tiny areas of normal iris stroma that are surrounded by rings of mild iris hypoplasia. Brushfield spots give the iris a speckled appearance. They are of no visual or pathologic significance.

Lens The lens may be affected by developmental, hereditary, syndrome-related, inflammatory, metabolic, or traumatic conditions. This can result in the development of a cataract, an opacification of the crystalline lens that may be either partial or complete. The lens may also be dislocated from its supporting zonules or subluxated. Cataracts Leukocoria refers to the white pupillary reflex seen when there is a light-colored intraocular mass or structure visible in the papillary space. Many conditions of variable severity and prognosis produce leukocoria (Table 19-1). Examination with a penlight, the plus lens of a direct ophthalmoscope, or by slitlamp biomicroscopy helps to differentiate lens opacification (cataract) from other causes of leukocoria. Congenital or infantile cataracts may be unilateral or bilateral, and the extent of opacification may be complete or partial (Fig. 19-75). Bilateral cataracts usually arise early in infancy and, if not treated early, may produce severe visual deprivation accompanied by poor fixation and nystagmus. Visually significant unilateral cataracts can cause severe deprivation amblyopia and strabismus. When abnormalities of the red reflex are detected, early referral for treatment is critical for successful visual rehabilitation. Although visually significant bilateral cataracts have gross signs of poor visual development, monocular cataracts may not have grossly visible signs for many months or years, until the cataract is obvious or a sensory strabismus develops. Opacification of a child’s lens may be due to heredity (autosomal dominant), chromosomal disorders (trisomy 13, 18, and 21) (Fig. 19-76), inflammation (iritis and uveitis), infection (TORCH), metabolic disorders (galactosemia and disorders of calcium and phosphorus metabolism), exposure to toxins, vitamin deficiencies (vitamins A and D), systemic syndromes with cataracts (Table 19-2), ocular conditions producing retinal detachment, radiation exposure, and trauma. Roughly one third of pediatric cataracts are hereditary, one third syndrome or disease related, and one third attributed to other or undetermined causes. The presence of ocular anomalies frequently identifies a developmental defect as being the cause for the cataract. Microphthalmia, the globe being smaller than normal, may be caused by ocular disease or inflammation, or it may be present as a developmental defect (see Fig. 19-60). Eyes with persistent hyperplastic primary vitreous (PHPV) are usually micro­ phthalmic, sometimes only mildly so, and frequently have visually significant cataracts, as well as vision-limiting retinal or optic nerve abnormalities.

Table 19-1

Figure 19-75  Complete cataract with no view of the red reflex or retina.

The morphology of the lens opacification may provide a clue to the cause of a congenital cataract if opacification is not complete. During development, the lens cells lay down fibers that grow out from the peripheral lens to the anterior and posterior lens surfaces. These form sutures. Because of this, the gestational age at the time of cataract development determines the location of the opacity. For example, the nuclear cataracts of rubella syndrome (Fig. 19-77) indicate infection early in gestation, whereas a zonular or lamellar cataract represents an insult to the lens occurring later in lens development. Small central opacities on the anterior or posterior poles of the lens, termed polar cataracts, are developmental abnormalities that typically remain stable and rarely affect vision (Fig. 19-78). Lamellar or zonular cataracts have a normal, transparent central nucleus; an affected lamellar zone; and a clear outer layer of cortex. Riders or radial extensions are frequently present (Fig. 19-79). Zonular cataracts may be autosomal dominant, associated with vitamin A and D deficiency, or follow hypocalcemia. Multicolored flecks may be seen in hypoparathyroidism or myotonic dystrophy, and an oil droplet configuration is seen in galactosemia (Fig. 19-80). If a child has no history of trauma, the family history is unremarkable, the general physical examination fails to suggest a systemic syndrome or chromosomal abnormality, and ocular examination does not help to determine the cause of a cataract, then a focused laboratory evaluation to determine the cause of the cataract may be undertaken. The most common metabolic disorders causing congenital cataracts are hypoglycemia and hypocalcemia. Examination of the urine for reducing substances is performed, and, if positive, laboratory evaluation for galactosemia and galactokinase deficiency should include blood tests for galactose and galactose 1phosphate uridyl transferase. Examination of the urine for

Differential Diagnosis of Leukocoria

Angiomatosis retinae Cataracts Coats disease Colobomas Congenital retinal fold High myopia Incontinentia pigmenti Medulloepithelioma Myelinated nerve fibers

Persistent hyperplastic primary vitreous Retinal detachment Retinal dysplasia Retinoblastoma Retinopathy of prematurity Toxocariasis Uveitis Vitreous hemorrhage

Figure 19-76  Spokelike cortical cataract of Down syndrome. The lens opacification does not affect the visual axis and is visually insignificant. Lens opacification such as this may rapidly progress and produce visual loss, or it may remain unchanged for years. Snowflake cortical opacities may also be seen in Down syndrome, and typically do not progress over the years.

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Table 19-2

757

Syndromes Associated with Cataracts

Albright hereditary osteodystrophy Alport syndrome Cat-eye syndrome Cerebro-oculo-facial-skeletal syndrome Chondrodysplasia punctata (Conradi-Hünermann syndrome) Cockayne syndrome Congenital ichthyosis Conradi syndrome Craniofacial syndromes (Apert and Crouzon syndromes) Down syndrome (trisomy 21) Edward syndrome (trisomy 18) Hallgren syndrome Hallermann-Streiff syndrome Ichthyosis Incontinentia pigmenti

Kniest syndrome Lazier syndrome Laurence-Moon-Bardet-Biedl syndrome Lowe syndrome Marinesco-Sjögren syndrome Marshall syndrome Myotonic dystrophy Osteogenesis imperfecta Patau syndrome (trisomy 13) Progeria Roberts syndrome Rothman-Thomson syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Stickler syndrome Turner syndrome Zellweger syndrome

protein and amino acids identifies patients with Lowe (oculocerebrorenal) syndrome, and a urine nitroprusside test diagnoses homocystinuria. Screening tests for congenital TORCH infections and syphilis should also be performed. Positional abnormalities of the lens may occur. A partial dislocation of the lens is referred to as subluxation. A dislocated lens, called ectopia lentis, may cause a profound decrease in vision by producing a large refractive error and amblyopia. Ectopia lentis may be unilateral, bilateral, inherited or sporadic, or it may be due to trauma (Fig. 19-81). Simple ectopia lentis is a bilateral, symmetrical condition with an autosomal dominant inheritance pattern. Bilateral superotemporal lens dislocation is present in 50% to 80% of patients with Marfan syndrome, although this may not occur until the teen or adult years. Ninety percent of patients with homocystinuria have an inferior lens dislocation, and patients with Weill-Marchesani syndrome may have dislocation of their microspherophakic lenses.

Uvea Inflammation of the uveal tract (iris, ciliary body, and choroid) has many potential causes including infections (toxoplasmosis, herpes zoster and simplex, and Lyme disease), collagen vascular disease (most frequently juvenile rheumatoid arthritis and sarcoidosis), and trauma. In the majority of children the etiologic agent cannot be determined. Advanced retinoblastoma may also present with signs that suggest uveitis.

Figure 19-77  A microspherophakic cataractous lens in rubella syndrome.

Figure 19-78  Anterior polar cataract. This type of lens opacity is a developmental abnormality that in most cases remains stable and rarely affects vision.

Involvement of the anterior segment alone (iritis or anterior uveitis) may produce pain, ciliary injection (conjunctival redness in the circumlimbal area), tearing, photophobia, and decreased vision. Synechiae, adhesions between the iris and lens or peripheral cornea, may produce corectopia, an abnormally shaped pupil. Inflammatory reaction in the anterior chamber may be viewed with the aid of a slit lamp as inflammatory cells and fibrin or protein (flare) in the aqueous fluid. With the high magnification of the slit lamp, inflammatory cells may be seen floating in the aqueous fluid much like dust is seen in bright sunlight shining through a window. If marked, this may give the eye a dull or glassy appearance (Fig. 19-82). Clumps of inflammatory cells may adhere to the posterior corneal surface, forming keratic precipitates (KPs). Inflammatory nodules may also be seen on the surface of the iris or at the border (Busacca and Koeppe nodules) in chronic uveitis. Iritis, which is milder in degree, may be present without signs or symptoms; children with juvenile rheumatoid arthritis should have periodic screening ophthalmic examinations. Children with polyarticular disease should be examined annually, and those with positive anti-nuclear antibodies and pauciarticular disease, who are more likely to develop ocular complications, should be examined three or four times per year to detect and treat the uveitis before complications of cataracts, glaucoma, and macular edema develop (see Chapter 7). Pars planitis, or intermediate uveitis, is an idiopathic, bilateral inflammation of the pars plana or pars ciliaris portions of the ciliary body. Symptoms include light sensitivity, “floaters,” and blurring of vision. Inflammatory cells in the anterior vitreous can make visualization of the retina with the direct ophthalmoscope difficult. If the inflammation is severe, it may produce leukocoria. No diagnostic laboratory tests are

Figure 19-79  Lamellar cataract with riders, surrounded by a clear cortex.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 19-80  Cataract of galactosemia. Early lens changes cause the nucleus of the lens to have an “oil droplet” configuration resulting from the accumulation of dulcitol, a metabolic product of galactose, within the lens. The resultant osmotic gradient draws water into the lens, producing the opacification. Early lens changes in galactosemia are reversible.

available in pars planitis, and the diagnosis is made on the basis of characteristic findings and by exclusion. Most cases are self-limited; however, chronic courses with exacerbations and remissions may produce visual loss resulting from cataracts, glaucoma, optic nerve inflammation, and cystoid macular edema. Retinal detachment because of membrane formation and phthisis bulbi may occur in advanced cases (Fig. 19-83). Posterior uveitis (inflammation of the posterior vitreous, retina, and/or choroid) can be caused by infection, but frequently the precise cause is undetermined. Infection of the retina by protozoa, fungi, and viruses may produce an intense inflammatory response in the vitreous, rendering it hazy or opaque. Leukocoria may be produced if the vitreous is cloudy or if extensive retinal involvement is present.

Vitreous Vitreous Hemorrhage Trauma, be it penetrating, concussive, or the result of shaken baby syndrome, is the most common cause of vitreous hemorrhage. Vitreous hemorrhage may occur with hemorrhagic disease of the newborn (hypoprothrombinemia), thrombocytopenia, or in advanced stages of retinopathy of prematurity. Patients with a subarachnoid hemorrhage may develop vitreous hemorrhage (Terson syndrome), and vitreous hemorrhage may also occur in patients with leukemia. Blood in the vitreous, if located centrally or posteriorly, may be visible with the direct ophthalmoscope. If the vitreous is liquid, the hemorrhage may appear to float inside the eye (Fig. 19-84). Blood in the vitreous may produce leukocoria as it organizes and becomes yellow and then gray in color. Vitreous hemorrhages may resolve spontaneously or, if extensive, require surgery. Vitreous hemorrhages that are slow to resolve in young children may cause amblyopia.

Figure 19-81  A traumatic, dislocated cataractous lens.

Figure 19-82  Iritis. Conjunctival injection is most marked immediately around the cornea (ciliary flush).

Retina Developmental Abnormalities Colobomas Retinal colobomas are caused by a defect in closure of the embryonal fissure of the optic cup. They may occur unilaterally or bilaterally. Large colobomas are manifest as an absence of the retina and choroid with or without marked excavation of the optic disc (Fig. 19-85). A ring of pigment usually exists around the coloboma. Leukocoria may be produced by the yellowish-white reflection of the underlying sclera, and the red reflex may be seen as flashing from red to white as the eye moves to produce a reflex from normal areas of retina to the area of the coloboma. Using a direct ophthalmoscope, an occasional vessel may be seen bridging the area of the coloboma. The coloboma and retina are at a different plane of focus when visualized with the ophthalmoscope. Colobomas may occur in otherwise normal eyes or in association with microphthalmia or retinal detachment. If the optic disc and macula are not involved, central visual acuity may be normal. In these eyes there is a peripheral visual field defect corresponding to the area of retinal involvement. Usually the patient is asymptomatic if the optic disc and macula are not involved. Colobomas may be inherited as isolated anomalies, or they may be associated with chromosomal defects (trisomy 13) or other syndrome-related entities (CHARGE association). Myelinated Nerve Fibers Before birth, myelination of the optic nerve begins in the central nervous system, progresses peripherally, and usually stops at the optic disc before birth. Myelination may continue beyond the optic disc to include the retinal nerve fiber layer as a relatively benign, isolated, congenital abnormality. Once present, the changes are permanent; however, there is no

Figure 19-83  Yellow cyclitic membrane behind a clear lens in a soft phthisic eye.

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759

Figure 19-84  Vitreous hemorrhage. Dispersed red blood cells in the vitreous have made it hazy. The diffraction of light causes blurred vision. Fluid levels are often visible, and collections of blood may appear to float within the eye, variably blocking vision and causing symptoms of seeing cobwebs or large floating spots.

progression or worsening of the condition. Myelinated fibers are oriented with the retinal nerve fibers and are easily seen with the direct ophthalmoscope as yellowish-white, flameshaped patches overlying the sensory retina and choroid (Fig. 19-86). The macula is rarely involved, and normal vision is usually present, although scotomas corresponding to the areas of myelination may be found on visual field examination. Persistent Hyperplastic Primary Vitreous PHPV occurs as a unilateral defect in the involution of the primary vitreous during the seventh month of gestation. No systemic associations exist. Eyes with PHPV are usually microphthalmic to varying degrees. PHPV may be associated with cataracts, intraocular hemorrhage, glaucoma, and retinal detachment. Many eyes with mild changes of PHPV may have good visual acuity after cataract surgery and visual rehabilitation; however, retinal or optic nerve abnormalities, if present, may limit vision. These rehabilitated eyes remain at risk for the development of glaucoma later in life. Eyes with advanced PHPV can become phthisical secondary to retinal or ciliary body detachment (Figs. 19-87 and 19-88).

Normal retina Retinal vessels Optic nerve area

Coloboma Figure 19-85  Coloboma of optic nerve, retina, and choroid. The yellowish-white sclera is visible, and retinal vessels can be seen coursing through the coloboma.

Figure 19-86  Myelinated nerve fibers. Myelination of the optic nerve fibers may continue beyond the optic disc to include the retinal nerve fibers. This is visible as yellowish-white, flame-shaped patches oriented with the retinal nerve fibers. Myelinated nerve fibers may produce the clinical sign of leukocoria. A blind spot is present, corresponding to the area of myelination, but it is symptomatic only if the macula is affected.

Albinism Albinism refers to conditions involving deficiencies of melanin in the skin or eye (Fig. 19-89). The loss of pigmentation may be isolated to the eye (ocular albinism), be generalized to the skin and eye (oculocutaneous albinism), or occur in conjunction with a systemic syndrome such as Chédiak-Higashi or Hermansky-Pudlak syndrome. Ocular albinism may occur as an X-linked or autosomal recessive trait, and spontaneous mutations are frequent. Photophobia is a common symptom. Mild decreases in cutaneous pigmentation are frequent. Patients have iris transillumination defects in which the red reflex is seen through multiple

Dense retrolental fibrovascular plaque Clear lens Iris Elongated ciliary processes Figure 19-87  Persistent hyperplastic primary vitreous presenting as a dense fibrovascular retrolental mass with microspherophakia, microphthalmia, and elongated ciliary processes.

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Fibrovascular stalk

Retrolental plaque Figure 19-90  Ocular albinism. The fundus has little pigmentation and the choroidal vasculature is readily visible. The macula is poorly developed, producing decreased visual acuity.

defects, fundus hypopigmentation, and photophobia. Their maculae, however, are less severely affected or are normal. Because of this, nystagmus is uncommon and visual acuity is normal or only minimally reduced. Albinoidism is inherited as an autosomal dominant trait with incomplete penetrance. Retinal detachment (artifact) Figure 19-88  Pathologic section of persistent hypoplastic primary vitreous. (Courtesy B.L. Johnson, MD, Pittsburgh, Pa.)

punctate defects in the iris. Absence of pigment in the retinal pigment epithelium layer of the retina makes the fundus appear a lighter yellowish-orange color than usual. The choroidal vasculature, usually hidden by the retinal pigment epithelium, is visible. The macula and fovea are hypoplastic, and visual acuity is decreased to a degree dependent on the absence of pigment and the development of the macula and fovea. The visual acuity may be only mildly affected or, in patients with marked nystagmus, the vision may be severely limited (Fig. 19-90). Ocular albinism is a frequent cause of sensory nystagmus in infancy. Ocular pigmentary abnormalities may also occur in a milder form, albinoidism. Such patients have iris transillumination

Figure 19-89  Albinism, characterized by white hair, pale skin, and translucent irides.

Coats Disease (Retinal Telangiectasis) Coats disease occurs unilaterally in boys younger than 18 years of age. The most common age at diagnosis is between 8 and 10 years. Peripheral retinal vessel telangiectasia and aneurysmal dilation lead to extensive areas of exudation, giving the retina a yellowish-white appearance, which may produce leukocoria (Fig. 19-91). The macula is a common site for exudate to collect, and when this is present, visual loss is profound. Treatment is by cryotherapy or laser photocoagulation of the retina; success depends on the degree of macular damage present. Retinitis Pigmentosa Retinitis pigmentosa (RP) is a pigmentary retinopathy characterized by visual field loss, night blindness, and a depressed or extinct electroretinogram. Symptoms of visual loss may be present in childhood but usually do not become apparent until the second or third decade of life. Poor night vision is the earliest symptom, followed by progressive loss of peripheral visual field and, finally, loss of central vision. Many different

Figure 19-91  Coats disease. Peripheral telangiectasia along the course of the retinal vasculature leads to exudation, giving the retina a yellowish-white appearance. If the exudate extends to the posterior retina leukocoria may be present.

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A

761

B

Figure 19-92  A, Retinitis pigmentosa, characterized by retinal pigment deposition, narrow arterioles, and a pale disc. B, Early fundus signs of retinitis pigmentosa. The optic disc has a waxy pallor, and the retinal arterial system is sclerotic. In children, pigmentary changes may not be as advanced or as noticeable as in adults.

diseases are characterized by pigmentary retinopathy, and the presentation, progression, and extent of visual loss vary widely. In general, disease within pedigrees has similar clinical characteristics. Unfortunately, treatment for the overwhelming majority of patients is not available at this time. Gene testing for some variations of RP is now available. The retinal pigment epithelial changes include deposition of pigment in a perivascular pattern. Pigment deposition in the midperipheral retina gives a characteristic “bone spicule” pattern late in the course of the disease (Fig. 19-92, A). Early in the disease, the optic nerve may have a waxy pallor and the retinal arteries may be attenuated (Fig. 19-92, B). Systemic disease entities are associated with RP. Patients with sensorineural hearing loss should be examined for the associated presence of retinitis pigmentosa (Usher syndrome and Hallgren syndrome). Renal diseases including Fanconi syndrome, cystinuria, cystinosis, and oxalosis may be associated with pigmentary retinal changes, as may the mucopolysaccharidoses, Refsum disease, and syphilis.

Symptoms of retinal detachment, which all patients with a history of blunt trauma to the eye should be advised of, include photopsias (flashing lights); floaters (caused by vitreous hemorrhage); and changes in vision, including blurring of vision or the sensation of a veil or curtain obscuring part of their vision. Retinopathy of Prematurity Retinopathy of prematurity (ROP) is characterized by abnormalities in the developing retinal vascular system. Mild forms affect the peripheral retina at the junction between the vascularized and immature avascular retina. These changes can be observed only with an indirect ophthalmoscope and scleral depression. Severe forms produce fibrovascular proliferations that extend into the vitreous (stage 3 disease), which may lead to traction resulting in poor macular development (temporal macular drag) or detachment of the retina (stages 4 and 5 disease) (Fig. 19-94). A white fibrovascular mass may occupy

Retinal Detachment Trauma is the most common cause of retinal detachment in children. Leukocoria occurs when the detached retina is in apposition to the lens or when significant scarring (proliferative vitreoretinopathy) is present. Retinal detachments, if large and located posteriorly, may be viewed with the direct ophthalmoscope as elevations of the retina (Fig. 19-93). The detached retina may move or undulate with eye movement.

Temporal tugging of the retinal vessels Figure 19-93  Retinal detachment. The inferior retina is detached, and a demarcation line between the attached and detached retina is visible. Fluid beneath the detached sensory retina shifts with movement of the eye and causes the detached retina to move or undulate with movement of the eye.

Normal retina

Figure 19-94  Retrolental fibroplasia with temporal drag of the disc.

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the retrolental space (retrolental fibroplasia) and produce leukocoria. In 75% of patients, ROP is bilateral and symmetrical. The majority of patients have only mild forms of the disease (stages 1 and 2 disease), and these patients do not have significant visual sequelae. Advanced ROP primarily affects the ill, premature infant whose birth weight is less than 1250 g. Treatment by laser photocoagulation, and most recently by intravitreal injection of vascular endothelial growth factor (VEGF) inhibitors, to reduce the progression of the disease and the risk of visual loss, is indicated when advanced disease is present, and programs to screen neonates at risk for developing this condition are necessary. All low-birth-weight infants, regardless of the development of ROP, are at higher risk than the general population for strabismus, amblyopia, and refractive errors and should have comprehensive examinations at about 1 year of age. Retinitis and Retinochoroiditis Inflammation of the retina and choroid is most commonly the result of viral, protozoal, fungal, or bacterial infection. The final common pathway for recovery or resolution of retinal inflammation is the production of a pigmented chorioretinal scar. The characteristics and location of these scars are frequently, but not always, suggestive of a diagnosis. In many cases, however, isolated chorioretinal scars do not suggest any particular disease and they are frequently of no visual significance. A rare cause of retinochoroiditis is sympathetic ophthalmia. Sympathetic ophthalmia occurs after a severe injury of one eye, the “exciting” eye, followed by a latent period and the development of uveitis in the uninjured eye, the “sympathizing” eye. Sympathetic ophthalmia may occur as early as 10 days after the original injury but may also have a delayed onset years after the incident. Sympathetic ophthalmia is an autoimmune disorder, and treatment is by immunosuppression, both topically and systemically produced. TORCH Infection Toxoplasmosis Toxoplasmosis, a protozoal infection, causes disease in several forms, depending on whether the infection is congenital (and when it is acquired during pregnancy) or acquired. Infants congenitally infected may have widespread involvement resulting in fetal death if maternal infection occurs in the first or early in the second trimester. If infection occurs in the third trimester effects may include chorioretinitis and encephalomyelitis, but the pregnancy will likely be viable. Of neonates severely affected by toxoplasmosis, 80% have retinochoroiditis. Congenital disease may also occur in inactive and recurrent forms, the effects of which may be limited to retinitis alone. Toxo­plasmosis may also be acquired, the incidence worldwide being extremely high with increasing age. Ocular involvement includes papillitis, retinitis, and iritis and is usually bilateral. The retinal lesions are frequently asymptomatic and are found incidentally as inactive pigmented chorioretinal scars. Inactive lesions may reactivate at any time throughout life, with active inflammation developing adjacent to areas of scarring. This is seen as a white fluffy response that may extend into the vitreous overlying the lesion (Fig. 19-95). Patients with lesions close to the macula or optic nerve should be wary of any visual changes and patients, especially those too young to report visual changes, should be screened for reactivation of their disease.

Area of acute chorioretinitis

Old pigmented lesion

Figure 19-95  Toxoplasmosis. Acute, recurrent, chorioretinal inflammation may occur adjacent to pigmented scars.

Rubella Exposure to rubella virus during the first trimester of pregnancy results in an intrauterine infection manifested as congenital rubella syndrome. Ocular findings include microphthalmia, microcornea, corneal opacification, anterior uveitis, iris hypoplasia, nuclear or complete cataracts, and glaucoma. The retinopathy of rubella syndrome is a diffuse “salt and pepper” retinopathy that develops early in childhood and does not affect vision. The pigmentary changes may be similar in appearance to those of syphilis, retinitis pigmentosa, and Leber congenital amaurosis (Fig. 19-96). Cytomegalovirus Cytomegalovirus (CMV) infection produces a bilateral retinochoroiditis manifested as multiple, yellowish-white, fluffy retinal lesions (Fig. 19-97). Hemorrhage is a prominent feature. Other ophthalmic manifestations include microphthalmia, uveitis, cataracts, optic disc atrophy, strabismus, and nystagmus.

Figure 19-96  Pigmentary retinopathy in rubella syndrome.



Figure 19-97  Cytomegalovirus (CMV). Retinitis, with hemorrhages and perivascular yellowish-white exudates secondary to cytomegalic inclusion disease.

CMV retinitis may be an opportunistic infection occurring in patients who are immunosuppressed because of immunodeficiency disorders or who are receiving immuno­suppressive drugs. Retinal inflammation, edema, and hemorrhage may be extensive and rapidly progressive in these patients. Herpes Simplex Virus Herpes simplex virus infection may involve the anterior segment of the eye, with conjunctivitis, keratitis, and iritis or, especially when disseminated in the perinatal period, a retinochoroiditis may develop. Retinal involvement with disseminated herpes simplex virus is severe, with extensive inflammatory reaction producing yellowish-white exudates and retinal necrosis. Ocular involvement occurs in roughly 13% of herpetic infections in newborns. Herpetic retinitis may occur in normal individuals but is more common in the immunosuppressed. Syphilis Congenital syphilis may cause bilateral chorioretinitis, resulting in a salt-and-pepper fundus appearance. Differentiation of the retinopathy of congenital syphilis from retinitis pigmentosa may be difficult. Syphilis may also cause interstitial keratitis, anterior uveitis, glaucoma, and optic nerve atrophy.

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Figure 19-98  Toxocariasis. The retinal lesion appears as a white elevated mass with surrounding pigmented scar formation.

such as hypertension and diabetes, or in patients with acquired immunodeficiency syndrome. Intraretinal hemorrhages occur with septic emboli and are flame shaped or dot-blot in nature. If the hemorrhage has a white center from the accumulation of leukocytes, the term Roth spot is used. Roth spots are not specific for bacterial endocarditis. They may occur in leukemia or shaken baby syndrome (Fig. 19-99). Conjunctival petechiae may be present as a sign of septic emboli. Emboli to the eye may cause a central or branch retinal artery obstruction. Occlusion of the central retinal artery causes a sudden profound loss in vision, loss of the pupillary direct light reflex, absence of venous pulsations, and the development of a cherry-red spot in the fovea. Edema and opacification of the ganglion cell layer surrounding the fovea make the fovea stand out as red to produce this sign (Fig. 19-100). Treatment must be provided virtually immediately with the episode; treatment at later times is of limited effectiveness. Leukemia Patients with acute lymphoblastic, myelogenous, or monocytic leukemia may develop flame-shaped intraretinal hemorrhages. These are usually extensive and visible with the direct

Toxocariasis Toxocara canis larvae infect children from 2 to 9 years of age. When the eye is involved, a white, elevated chorioretinal granuloma develops (Fig. 19-98). Chronic unilateral uveitis with opacification of the vitreous overlying the granuloma may occur. Inflammation in ocular toxocariasis occurs only after the infecting organism dies. Externally, the eye does not appear to be inflamed. With extensive inflammation, fibrotic preretinal membranes may develop and produce retinal detachment. Differentiation from retinoblastoma may be difficult. Calcification of the lesion is rare in toxocariasis as opposed to retinoblastoma. The diagnosis is confirmed by enzyme-linked immunosorbent assay for T. canis on blood or intraocular fluid. Bacterial Endocarditis Cotton-wool spots frequently develop in patients with bacterial endocarditis and septic emboli. These represent infarction of the nerve fiber layer of the retina and appear as white, irregular lesions with indistinct borders. Cotton-wool spots may be seen in any condition that produces retinal ischemia,

Figure 19-99  Shaken baby syndrome. Multiple retinal hemorrhages are present in the posterior fundus. There are small flame-shaped hemorrhages within the nerve fiber layer that follow the pattern of the retinal vessels. More extensive areas of hemorrhage have broken through to the preretinal space and are seen as areas of blood that obscure the retina. A Roth spot, that is, a hemorrhage with a white center, is visible just above the optic disc. The white reflection from the camera flash is visible because of dispersed red blood cells within the vitreous.

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retinopathy seen in adults essentially does not occur until after puberty.

Figure 19-100  Central retinal artery occlusion. A cherry-red spot is visible in the fovea. This sign is due to edema and opacification of the ganglion cell layer of the retina surrounding the fovea.

ophthalmoscope. The presence of hemorrhage is not correlated with anemia or thrombocytopenia. Leukemic infiltration may also occur in the retina as a perivascular infiltrate in the choroid or in the optic disc, producing disc swelling and a papilledema-like appearance. Leukemic involvement of the orbit may be difficult to distinguish from bacterial orbital cellulitis. Diabetes The most common ocular finding in young diabetic patients is transient lenticular myopia. This occurs in patients who have had a rapid rise in blood glucose level. Sorbitol accumulates within the lens as a metabolic product. This increases the lens osmolarity and causes the lens to swell, producing myopia. After the blood sugar level returns to normal, myopia may continue to persist for several days or even weeks, with gradual spontaneous resolution. Children with diabetes may rarely develop cataracts. The earliest sign of background diabetic retinopathy is the presence of microaneurysms (tiny discrete red spots). Small retinal hemorrhages, cotton-wool spots, venous dilation, and hard exudates (small, discrete, yellow lesions) may also be seen. The occurrence of background diabetic retinopathy is related to the duration and control of the diabetes. Young children appear to have a protective effect from diabetic retinopathy, and changes are seldom diagnosed until years after puberty; however, yearly screening examinations are recommended for juvenile diabetics. Proliferative diabetic

A

Sickle Cell Retinopathy The ocular abnormalities of the sickle hemoglobinopathies are caused by intravascular sickling, hemostasis, and thrombosis. Retinal findings occur in the peripheral fundus and cannot be visualized with a direct ophthalmoscope, necessitating screening and detection by an ophthalmologist. Retinal vascular complications occur most frequently in patients with hemoglobin (Hgb) SC disease and S–thalassemia disease. Patients with sickle cell disease (Hgb SS) are less frequently affected, their decreased hematocrit providing protection to the retinal vasculature. Rarely, patients with the milder hemoglobinopathies, AS and AC, may have retinal findings. Retinal findings may be divided into nonproliferative and proliferative changes. Proliferative changes include arteriolar occlusions that lead to arteriovenous anastomosis, causing areas of retinal nonperfusion. Neovascularization occurs at the edge of these areas of nonperfusion, in the form of a gossamer vascular network (a sea fan), and often leads to vitreous hemorrhage, traction, and retinal detachment (Fig. 19-101, A). The disease process is similar to that seen in retinopathy of prematurity. Proliferative changes of sickle retinopathy should be treated by laser photocoagulation. Nonproliferative changes include refractile or iridescent deposits, black sunburst lesions, and salmon patch hemorrhages. Refractile deposits are sequelae of old reabsorbed hemorrhages. Sunburst lesions are areas of perivascular retinal pigment epithelial hypertrophy and pigment migration (Fig. 19-101, B). Salmon patch lesions represent areas of intraretinal hemorrhage. Parafoveal capillaries and arterioles may become occluded and produce decreased visual acuity in sickle cell retinopathy. Segmentation of the conjunctival blood vessels produces comma-shaped capillaries (“comma sign”). Permanent vision loss from sickle cell retinopathy is rare in the pediatric age group. Metabolic Diseases The mucopolysaccharidoses are syndromes caused by in­herited defects in the lysosomal enzymes that degrade acid mucopolysaccharide. All of the mucopolysaccharidoses are transmitted as autosomal recessive traits except type II (Hunter), which is X-linked recessive. A common ocular finding is retinal pigmentary degeneration, which closely resembles retinitis pigmentosa. Optic atrophy also occurs, as does corneal clouding resulting from stromal infiltration. The sphingolipidoses are caused by a deficiency of the lysosomal enzymes responsible for the degeneration of sphingolipids. Tay-Sachs disease (GM2 type I gangliosidosis) and

B

Figure 19-101  Sickle cell retinopathy. A, Neovascularization or growth of fragile blood vessels into the vitreous in the midperipheral retina. The white fibrous tissue present is due to the proliferation of fibroglial elements. This produces traction on the retina, which may subsequently lead to retinal detachment. B, The black sunburst lesions are areas of perivascular retinal pigment epithelial hypertrophy with pigment migration. This finding is an example of nonproliferative change.

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Figure 19-103  Leukocoria. The patient’s left eye has a white pupillary reflex produced by reflection of light from a retinoblastoma. Leukocoria is the most common presenting sign (60%) of retinoblastoma. Figure 19-102  Tay-Sachs disease. Because the parafoveal area has many retinal ganglion cells and the fovea has none, the fovea retains its oranges-red color but is surrounded by retina that is whitish in color. This produces the cherry-red spot in the macula.

Niemann-Pick disease are the two most common sphingolipidoses. Sphingolipids accumulate in the retinal ganglion cells, giving a whitish appearance to the retina. Because the parafoveal area has many retinal ganglion cells and the fovea none, the fovea has its normal oranges-red color, whereas the retina peripheral to the fovea is white. This produces a “cherry-red spot” in the macula (Fig. 19-102). The mucolipidoses are caused by abnormal glycoprotein metabolism. Mucolipidoses have clinical findings of some of the sphingolipidoses and some of the mucopolysaccharidoses. The ocular findings include corneal epithelial edema, retinal pigmentary degeneration, macular cherry-red spots, and optic atrophy. Cystinosis, caused by a defective transport mechanism for cystine within the lysosomes, leads to intralysosomal accumulation of cystine. Only patients with the nephritic type of cystinosis develop retinal changes, which include salt-andpepper changes of the retinal pigment epithelium and areas of patchy depigmentation with irregularly distributed pigment clumps. These changes do not produce loss of vision. Photophobia is due to the accumulation of corneal crystals, which may occur in all types of cystinosis and may be extreme, producing a functional blindness. Treatment of the corneal crystallization with topical cysteamine drops is effective if used on a frequent and long-term basis. The cystine crystals redevelop if the drops are discontinued. Retinoblastoma Retinoblastoma is the most common intraocular malignancy of childhood. It occurs with a frequency of between 1 in 14,000 and 1 in 20,000 births. The most common age of diagnosis is between 1 and 1 1 2 years, with 90% of cases presenting before 3 years of age. The most common presenting signs of retinoblastoma are leukocoria (60%) and strabismus (22%) (Fig. 19-103). One third of cases are bilateral. The tumor may present as an elevated, round, white, or yellow mass (Fig. 19-104). Retinoblastoma may be multicentric, with several tumor masses arising within the same eye. Seeding into the vitreous may occur, producing a cloudy vitreous. A frequent feature of retinoblastoma is the presence of calcification within the mass. Great advances have occurred in the understanding of the genetics of retinoblastoma. Retinoblastoma may be transmitted in an autosomal dominant inheritance pattern. Of patients with the disease, 60% have a family history of retinoblastoma. Penetrance is high (60% to 90%) but incomplete. Sporadic cases occur as either somatic mutations in 75% of patients or germinal mutations that may be passed on to the

offspring of affected patients. These sporadic cases are usually unilateral, and the hereditary forms are usually bilateral; however, a patient with a unilateral tumor may have heritable disease. The gene for retinoblastoma has been identified, and it is possible to determine which patients with unilateral tumors have the hereditary form of the disease and which patients do not. Patients who have the heritable form of the disease, with the deletion of the retinoblastoma gene, may develop tumors of the pineal gland (trilateral retinoblastoma) and have a markedly increased risk of secondary tumors (osteogenic sarcoma). Untreated, retinoblastoma is virtually 100% fatal. The treatment of retinoblastoma is advancing rapidly, and many eyes, even those with extensive tumor that were previously enucleated, may be saved by combinations of local treatment (laser, thermal, and plaque radiation) and chemotherapy.

Optic Nerve The optic nerve relays information from each eye to the brain. Its function is assessed by measuring visual acuity, visual fields, color vision, and the pupillary response. Visualization and assessment of the morphology of the optic disc with a direct ophthalmoscope can provide valuable information regarding the function of the nerve. Color Vision Change in color vision, particularly the ability to perceive red, is an early feature seen in disorders that compromise the function of the optic nerve. Patients may complain of subjective changes in color perception, or they may demonstrate defects in color vision on objective tests.

Figure 19-104  Retinoblastoma. The tumor mass of retinoblastoma is usually elevated and yellow or white in color. Dilated feeding vessels of the tumor may be visible. Seeding into the vitreous from the tumor may produce a cloudy vitreous.

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An easy test to assess color vision is to compare color perception between the two eyes. The patient is asked to look at a red object first with one eye, then with the other, and is asked whether it is more red with one eye or the other. A subjective desaturation of red in one eye is an indication of dyschromatopsia and a potential optic nerve disorder. If the patient reports that the object is only 50% as red with one eye compared with the other, the results would be recorded as a red desaturation of 50%. In children it is valuable to present the object to the “normal eye” first with the question “If this is $1 of red, how much red is it now?” and offering a comparison with the fellow eye. A similar comparison may be performed for brightness by shining a light first into one eye and then into the other. The sense of brightness is also decreased in the presence of optic nerve disease. Formal assessment of color vision is performed using color plates such as the Hardy-Rand-Rittler or Ishihara color plates. Patients with heritable congenital color vision defects are equally affected in both eyes. Patients with asymmetrical optic nerve disease (optic neuritis, tumor, toxic optic neuropathy) have asymmetrically decreased color vision, especially for the red hues. Pupils Assessment of the pupils for size, shape, position, and reactivity is an important part of the neurologic and ophthalmic evaluation. Neurologic abnormalities that affect the pupil include defects of the afferent pathway (the optic nerve and visual system), the parasympathetic pathway (for pupillary constriction), and the sympathetic pathway (for pupillary dilation). Afferent Pupillary Defects In a normal patient, shining a penlight into one eye causes both pupils to constrict. Pupillary constriction in the illuminated eye is the direct response, and the constriction in the fellow eye is the consensual response. The pupils are normally equal in size even if one eye is blind; each eye receives equal pupillary innervation. The swinging flashlight test is used to assess optic nerve function (Fig. 19-105). If the optic nerve function is decreased on one side an afferent pupillary defect (APD) is present. Another term for this is Marcus Gunn pupil. A penlight is used to illuminate one eye and then the other. If both eyes have equal afferent input, then illumination of either eye should produce equal constriction of the pupils. Normally, after shining a light into one eye, the response is initial constriction of both pupils followed by a small dilation (release). The light is then swung quickly to the fellow eye; a small release may be seen as the light crosses between the eyes and then both pupils should constrict to the same degree as previously seen. When there is a decrease in afferent input (nerve function) on one side (e.g., a monocular optic neuritis), both pupils do not constrict as much when the light is shown into the affected eye compared with the other eye (i.e., both eyes display a relative dilation compared with their size when the normal side was illuminated). The critical observation is that when the affected eye is illuminated, a gradual dilation of the pupils occurs as compared with the response when the normal eye is illuminated. Having the patient maintain fixation on a distant object is important because accommodation causes constriction of the pupils and may lead to misinterpretation of the findings. This test is applicable even if one iris and pupil are of abnormal size or shape or nonreactive (e.g., after intraocular surgery, trauma, or synechiae from uveitis). The normal pupil is observed when the light is shown into either eye, and if there is a greater constriction of it when the light is shown into one side compared with the other, an APD is present.

MARCUS GUNN PUPIL To perform test: Shine a bright light into each pupil for about 3–4 seconds. Alternate back and forth. Look for pupil to dilate, instead of constrict, with light.

Left eye has decreased vision due to retinal lesion or optic nerve lesion. VA OD 20/20

VA 20/400

Both pupils constrict equally because of consensual response.

Both pupils dilate on illumination of eye with afferent defect. Figure 19-105  Swinging flashlight test.

An APD indicates disease affecting the optic nerve or retina. Unilateral or bilaterally asymmetrical optic nerve disease always causes a relative APD. Mild optic nerve disease with minimal or no objectively measurable decrease in visual acuity still produces an APD, whereas a retinal defect must severely affect the macula or large areas of the retina to produce an APD. Afferent pupillary defects are not seen with dense cataracts, refractive errors, cortical lesions, or functional visual loss. Dense amblyopia may produce a subtle APD. Anisocoria Lesions of the parasympathetic or sympathetic system, if unilateral or asymmetrical, cause pupillary constriction or dilation and produce pupils that are unequal in size, termed anisocoria. Pupillary involvement in third nerve palsy is usually accompanied by ptosis and disturbances in ocular motility. In cases of brainstem herniation and basilar meningitis, however, pupillary dilation may be the only sign of third nerve palsy. Pharmacologic mydriasis may occur with minimal exposure to atropine, cyclopentolate, or other parasympatholytic agents (e.g., accidental exposure to some pesticides). Pharmacologic testing with 1% pilocarpine is useful for differentiating pharmacologic mydriasis from third cranial nerve palsy; pupillary constriction occurs in third nerve palsy and does not occur with pharmacologic mydriasis. Pharmacologic miosis occurs with echothiophate iodide or pilocarpine. A lesion at any point along the sympathetic pathway for pupillary constriction results in Horner syndrome. The classic triad of findings includes ptosis, miosis, and anhidrosis on the affected side. The anisocoria of Horner syndrome is more apparent in dim illumination, and the affected pupil shows a lag in dilation on dimming of the lights. The light and near pupillary reactions are intact. The anisocoria of Horner syndrome is best examined with the patient fixating on a distance object and observing both pupils as a bright light is alternately



turned on and off. With the light on, both pupils will be miotic and some anisocoria may be observed. Immediately on dimming of the light in Horner syndrome one pupil will dilate more slowly than the other and the magnitude of the anisocoria will be observed to increase (dilation lag). As the light remains dimmed the magnitude of the anisocoria may decrease but it will still be greater than that observed when the light was bright. A ruler or pupil gauge with circles or half circles or different diameters is useful as a reference to accurately determine the pupil sizes. Paresis of Müller muscle of the lid leads to the mild upper lid ptosis seen in Horner syndrome. The lower eyelid on the affected side may rest 1 mm higher than the fellow lid (upside-down ptosis), and the narrowed palpebral fissure gives the appearance of enophthalmos (see Fig. 19-72). Anhidrosis of the ipsilateral side of the body, side of the face, or forehead may be present, depending on the site of the innervation defect. Anhidrosis of the forehead may be assessed by lightly rubbing a smooth plastic ruler across the forehead skin. If the ruler moves smoothly, anhidrosis is present because small amounts of perspiration will cause the ruler to stick and have a jerking motion. A characteristic of congenital Horner syndrome is the development in later childhood or adolescence of iris heterochromia, with the affected iris being lighter in color. The sympathetic pathway for pupillary constriction involves three neurons. The location of first-order neuron lesions is in the brainstem and spinal cord, examples being cervical trauma or demyelinating disease. Preganglionic or second-order neuron lesions occur within the chest or neck (e.g., neuroblastoma arising in the sympathetic chain). Congenital Horner syndrome, which is most often idiopathic but sometimes produced by birth trauma to the brachial plexus, may also cause a second-order neuron lesion. Third-order neuron lesions, postganglionic in reference to the superior cervical ganglion, are usually benign; however, extracranial or intracranial tumors of the nasopharynx or cavernous sinus may produce such lesions. More common causes for a postganglionic Horner syndrome are migraine variants such as cluster headache. Pharmacologic testing with hydroxyamphetamine drops can differentiate a third-order lesion from a first- or secondorder lesion. With a third-order lesion the pupil does not dilate because the nerve’s norepinephrine stores are depleted. With a first- or second-order lesion the nerve’s norepinephrine stores are normal and pupillary dilation occurs with instillation of the drops. Unfortunately, hydroxyamphetamine eyedrops are not readily available. With causes for Horner syndrome ranging from benign idiopathic lesions and migraine to life-threatening malignancy, patients with newly diagnosed Horner syndrome without convincing histories suggesting benign etiologies require evaluation with imaging of the head, neck, abdomen, and thorax. Physiologic Anisocoria Approximately 10% to 20% of the population has a perceptible anisocoria without any abnormal pathologic condition. The degree of anisocoria may vary from day to day, but usually the difference in pupil size is 1 mm or less. Physiologic anisocoria may be congenital or acquired and it may be permanent or resolve. The hallmark of physiologic anisocoria is that the magnitude of anisocoria remains the same in bright and dim illumination; however, in some cases the anisocoria may be slightly more apparent in dim light than in bright light, thereby simulating Horner syndrome. Differentiating physiologic anisocoria from Horner syndrome may be difficult, especially in a moving infant. In physiologic anisocoria, dilation lag is not observed. Pupils with physiologic anisocoria dilate after the instillation of 4% cocaine drops, whereas a Horner pupil fails to dilate. Apraclonidine 0.5% causes a reversal of

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the anisocoria in Horner syndrome, but it cannot be used in infants, in whom differentiation of physiologic anisocoria from Horner syndrome is most often necessary, as extreme lethargy and unresponsiveness may occur in infants with apraclonidine use. Adie Tonic Pupil A lesion of the postganglionic parasympathetic innervation of the pupil, most commonly due to viral infection, causes Adie tonic pupil. Initially the pupil will be dilated and the anisocoria is greater in bright illumination. The response of the pupil to light is sluggish, with segments of the iris constricting slowly. Miosis with near fixation is normal initially but later also becomes tonic with slow constriction and slow redilation. Denervation hypersensitivity is present and the diagnostic test for Adie pupil is instillation of dilute 0.125% pilocarpine, which causes papillary constriction. Adult females are more commonly affected, but varicella is a cause in children. Optic Neuritis Inflammation of the optic nerve may occur either as a papillitis, referring to the intraocular form in which optic disc swelling is present, or as a retrobulbar neuritis, in which the optic disc appears normal and inflammation of the optic nerve occurs posterior to the globe. Vision loss may be sudden, progressive, profound, and accompanied by complaints of pain in or behind the eye, which may be accentuated by movement of the eyes. An afferent pupillary defect is present if the condition is unilateral or if it is bilateral and asymmetrical. Visual fields usually show a cecocentral scotoma, an area of vision loss located in the central visual field. The optic disc, if affected, may show swelling of the peripapillary nerve fiber layer and elevation. Small vessels at the optic disc margin may hemorrhage or become obscured by edema. The appearance in bilateral disease may be impossible to differentiate from the optic disc swelling present with increased intracranial pressure. Optic neuritis in children is frequently bilateral and may be idiopathic or follow nonspecific viral prodromes or infection with mumps, measles, chickenpox, or meningoencephalitis. Collagen vascular disease, particularly systemic lupus erythematosus and sarcoidosis, may be associated with optic neuritis. Syphilis and tuberculosis also cause optic neuritis. Visual acuity in idiopathic optic neuritis gradually improves 1 to 4 weeks after onset and usually returns to normal over several months. Episodes may be recurrent. Associations with demyelinating disease occur but less frequently than in adults. Papilledema Increased intracranial pressure (ICP) is transmitted to the optic nerves via the cerebrospinal fluid within the subarachnoid space and causes papilledema. The axoplasmic flow from the retinal ganglion cells to the cells in the lateral geniculate nucleus is blocked and causes the optic disc to swell. The degree of disc swelling may be asymmetrical; however, increased intracranial pressure rarely causes papilledema in only one eye. Ophthalmoscopic signs include blurring of the disc margin and disc edema. The disc may be hyperemic because of telangiectasia of the superficial capillaries on the disc, and small hemorrhages may appear on the disc margin (Fig. 19-106). Visual acuity is normal unless hemorrhage and edema involve the macula. Patients may complain of transient obscurations of vision. The visual fields may show an enlarged blind spot, and the pupillary response and color vision are normal. If increased intracranial pressure is chronic, elevation of the optic disc may persist but the hemorrhages and exudates seen in the acute phase resolve. When the condition is prolonged,

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Figure 19-106  Acute papilledema. The disc edges are blurred, and the physiologic cup may be obscured due to the disc swelling and edema of the adjacent nerve fiber layer. Intraretinal hemorrhages and exudates may be present.

optic nerve atrophy and vision loss occur. If intracranial pressure is normalized, it may take 6 weeks for papilledema to resolve and the optic disc to normalize. Patients may have elevated intracranial pressure without developing papilledema, and thus the absence of papilledema does not rule out increased ICP. Pseudopapilledema Pseudopapilledema occurs as an anomaly of the optic disc and in eyes with high hyperopia or optic disc drusen (see Fig. 19-9). The disc is not hyperemic, the vessels at the disc margin remain visible, and there is no nerve fiber layer swelling. There may be anomalous branching and tortuosity of the retinal vessels, and the physiologic cup is usually absent. The disc borders may be irregular. Hemorrhages, exudate, cottonwool spots, and venous congestion do not occur. Spontaneous venous pulsations are an indication that the disc swelling is pseudopapilledema and not caused by increased intracranial pressure; however, they are not present in 20% of the normal population, and therefore their absence does not indicate that the disc swelling is necessarily true papilledema. Central visual acuity is normal. Optic Disc Atrophy Optic nerve atrophy is present if the optic disc does not have its typical reddish-orange color. Initially the disc becomes more yellow in color, gradually developing more pallor. The lamina cribrosa may become visible with enlargement of the optic cup, leaving a “pinholed” appearance (Fig. 19-107). As the disease process continues, the disc eventually becomes more pale and eventually white in color, visual acuity decreases, and visual field defects emerge. If the optic atrophy is markedly advanced and the disc is very pale and accompanied by a sluggish papillary response then poor visual acuity may be easily predicted, but if the atrophy is mild accurate prediction of the visual acuity is difficult. Optic atrophy may occur as a sequela of papilledema, optic neuritis, compressive lesions of the optic nerve or chiasm, tumors of the optic nerve (most commonly glioma in asso­ ciation with neurofibromatosis), trauma, hereditary retinal disease, or glaucoma. Optic atrophy may also be inherited as a recessive or dominant trait. Atrophy may occur as a component of a generalized neurologic condition, such as Behr optic atrophy with cerebellar ataxia, hypotonia, and mental retardation. Leber optic neuropathy occurs in late adolescence or early adulthood, with acute disc edema being rapidly followed by progressive bilateral optic atrophy.

Figure 19-107  Optic atrophy. The optic disc is flat, pale, and yellowish-white in color.

Developmental Anomalies of the Optic Nerve Developmental anomalies of the optic nerve include colobomas, tilted discs, and optic nerve hypoplasia (see Figs. 19-9, 19-10, and 19-85). The level of visual acuity is related to the type and extent of the defect. Although profound abnormalities certainly have a significant effect on visual acuity, it is difficult to estimate the effect that more minor anomalies, especially optic nerve hypoplasia, may have on vision. Hypoplasia of the optic nerve occurs either unilaterally or bilaterally. The optic disc is smaller than normal and commonly a surrounding, partial or complete, yellowish-white ring that corresponds to the scleral opening for a normal-sized optic nerve is visible. The term double ring sign is used to describe the ring with its surrounding pigment crescent. The retinal vessels are normal in size but may appear crowded as they leave the optic disc (Fig. 19-108). The pattern of vessel branching is typically abnormal. Visual acuity is related to the degree of hypoplasia, and an afferent pupillary defect may be present if the degree of involvement is asymmetrical. Optic nerve hypoplasia is associated with midline central nervous system abnormalities including absence of the septum pellucidum (de Morsier syndrome). Children with optic nerve hypoplasia should be examined for abnormalities in pituitary and hypothalamic function. Optic disc hypoplasia is frequently seen in patients with fetal alcohol syndrome (FAS) (48%). Increased tortuosity of the retinal vasculature may also exist in patients with FAS.

Orbit Clinical signs of orbital disease are proptosis, restriction in ocular motility, compression of the optic nerve producing optic disc swelling, changes in refraction, and retinal striae. Retinal striae appear as radial lines on the retinal surface and are caused by compression of the posterior portion of the globe. Orbital disease or trauma may cause orbital asymmetry with displacement of the globe (Fig. 19-109). Posterior (enophthalmos) or anterior (exophthalmos) displacement of the globe in orbital disease may be subtle. Comparison of the position of the globes in relation to the lateral orbital rims, looking for asymmetry, is a valuable clinical test, with subtle differences most easily visualized by viewing the patient from above. The Hertel exophthalmometer is an instrument used to compare the position of the globes in relation to the lateral orbital rim (Fig. 19-110). Palpation of the globes over closed eyelids, gently retropulsing the globe into the orbit, may reveal

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A

B

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C

Figure 19-108  A, Optic disc coloboma. Disc is excavated and has potential for only poor visual acuity. B, Optic nerve hypoplasia. A pigment crescent surrounds the hypoplastic nerve. This corresponds to the scleral opening for a normal-sized optic nerve and is termed the double ring sign in this patient with ocular albinism. The pattern of the retinal vasculature is also abnormal, as is the retinal pigmentation. C, Optic disc hypoplasia. The disc is small with abnormal features. The surrounding larger ring around the disc corresponds to the normal-sized sclera opening for the disc.

the character of an orbital mass and is helpful in assessing proptosis caused by orbital cellulitis. Ocular versions are tested, looking for restrictions in motility. Other adjuncts to the clinical examination include B scan ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) of the orbit. Although CT is particularly valuable in the examination of bony lesions and in the assessment of orbital fractures, the radiation exposure with fine-cut orbital CT is significant, and this must be taken into consideration in children. The most common orbital disease in childhood is infectious cellulitis (see Chapter 23). Capillary hemangioma and lymphangioma are the most common benign primary orbital tumors of childhood. Orbital capillary hemangiomas present shortly after birth, enlarge over the first 6 to 12 months of life, have a period of stability between 1 and 2 years of age, and then begin to regress. Systemic steroids have been the mainstay of treatment, but more recently the use of propranolol has been shown to be very effective. Lymphangiomas may involve the conjunctiva, lids, or orbit. These tumors may rapidly enlarge during upper respiratory tract infections. Sudden enlargement may occur after hemorrhage within the lesion. Rhabdomyosarcoma is the most common primary orbital malignancy in childhood. This tumor should be a consideration in any child between the ages of 7 and 8 years who has rapidly progressing unilateral proptosis. The tumor mass may

Figure 19-109  Blowout fracture of inferior orbital wall with dislocation of the zygoma.

be palpable in the upper eyelid area, or it may be located deeper in the orbit. The most common metastatic lesion to the orbit in childhood is neuroblastoma. This tumor presents with an abrupt onset of proptosis and ecchymosis that may be bilateral (Fig. 19-111). Metastasis in neuroblastoma typically occurs late in the course of the disease, when the primary tumor can easily be detected in the abdomen. Dermoid and epidermoid cysts are relatively common. These benign masses are usually located anterior to the orbital septum but may extend posteriorly into the orbit. These cysts present as smooth, painless, freely movable round or oval masses and are usually located in the lateral brow area, adjacent to the zygomaticofrontal suture (Fig. 19-112). They may, however, be found near any bony suture. If these lesions can be palpated around their entire extent, no neuroimaging studies may be necessary; however, if they are palpated as extending posterior to the orbital rim, imaging is indicated to exclude extension into the intracranial space or a diagnosis of encephalocele. These cysts contain dermal and epidermal elements that have become isolated from the skin during the course of embryonic development. If ruptured by trauma, an intense inflammatory reaction occurs. Because of this reaction, surgical excision of these lesions is indicated before potential trauma when the child learns to walk. Optic nerve gliomas are tumors that occur in children younger than 10 years of age. At least one third of children have a history of neurofibromatosis. The presenting sign may be loss of vision or painless proptosis. An afferent pupillary defect and optic atrophy are usually present. Papilledema may also occur. Strabismus may be present because of decreased visual acuity (Fig. 19-113).

Figure 19-110  The Hertel exophthalmometer measures the anterior-to-posterior distance from the corneal surface to the lateral orbital rim. A base measurement, the distance between the two lateral orbital rims, is recorded to help obtain repeatable instrument placement. Progression or regression can be determined by serial measurements.

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Figure 19-111  Neuroblastoma. Neuroblastoma metastatic to the orbit may present with an abrupt onset of unilateral or bilateral proptosis and ecchymosis of the eyelids. Neuroblastoma is the most common lesion to metastasize to the orbit in childhood.

Plexiform neurofibromas are also seen in association with neurofibromatosis. They occur within the orbit or within the upper lid tissue and cause a fullness and ptosis of the lateral portion of the eyelid, leading to an S-shaped upper lid deformity. Orbital pseudotumor is a unilateral or bilateral orbital inflammatory process affecting the structures within the orbit. Children with pseudotumor have signs of headache, fever, lethargy, orbital pain, proptosis, lid erythema, conjunctival injection, and restricted ocular motility causing diplopia. The extraocular muscles and their tendons may be thickened. Orbital pseudotumor is a benign condition; however, recurrent tumor with scarring and fibrosis may cause restriction of ocular motility. Optic nerve atrophy may occur in extreme cases. Orbital pseudotumor must be differentiated from leukemia. The most common form of leukemia that affects the orbit is acute lymphoblastic leukemia.

OCULAR TRAUMA In the evaluation of children with orbital or periocular trauma, serious ocular injury must be presumed even if only minimal external signs exist. Presumption of serious injury not only gives the examiner a heightened awareness of the possibilities for serious injury but also signals initiating precautions to protect the eye from further damage. For example, if there is any suspicion that the eye has sustained a penetrating wound by a projectile, a shield must be placed over the eye to prevent any pressure from being placed on the eye to avoid expulsion of intraocular contents. Before any evaluation or manipulation of the patient, an assessment of visual acuity must be performed if possible. This provides information regarding the severity and nature of the trauma and records information that may be of medicolegal importance. If a patient is not able to

Figure 19-112  Dermoid cyst. These cysts present as smooth, painless, mobile, subcutaneous, round or oval masses. Dermoid cysts are most frequently located in the lateral brow area adjacent to the zygomaticofrontal suture. Although benign, if they are ruptured by trauma, an intense inflammatory reaction with scarring in the area may occur.

Figure 19-113  Optic nerve glioma. Its presence may cause a gradual onset of painless proptosis. Children seldom complain of monocular visual loss, and the discovery of a profound loss of vision may be the presenting sign of an optic nerve glioma. In children, optic nerve gliomas are benign lesions that may, however, extend to the optic chiasm or intracranially.

undergo a formal measurement of visual acuity, the fixation response can be recorded or the patient’s ability to count fingers can be recorded. If the patient is able to read but use of an eye chart is impractical in the emergency room setting, the patient’s ability to read anything available and the distance that they are able to read from should be recorded. This kind of assessment can be translated to a visual acuity measurement if necessary. The anatomy of a laceration of the eyelid dictates the measures required for repair. The presence of orbital fat indicates penetration of the septum and entrance into the orbit. In addition, evaluation of the laceration must include the degree of involvement of the lid margin, loss of tissue, injury to the medial and lateral canthal tendons (suggested if there is displacement or deformity of the medial or lateral canthus), and injury to the canaliculi of the nasolacrimal drainage system (Fig. 19-114). Each of these injuries requires a special technique for repair. Patients who have sustained blunt orbital trauma should be evaluated for a fracture of the orbital floor or the medial wall of the orbit. Signs of injury include enophthalmos, di­ plopia, restricted gaze, and paresthesias in the distribution of the infraorbital nerve (midface and cheek below the eye). Exophthalmos may occur if there is significant orbital swelling or hemorrhage. Fractures may be isolated to the floor, or they may extend to the orbital rim (Fig. 19-115). The orbital rim should be palpated for discontinuity suggesting fracture and

Figure 19-114  Canalicular laceration. This patient experienced a laceration of the upper canaliculus. Simple apposition of the wound edges in this case will not approximate the cut ends of the canaliculus and chronic epiphora will result. Silicone tubes are used to splint the canaliculus during the healing process.



Figure 19-115  Blowout fracture of the right orbit (coronal CT scan). Protruding through the fracture in the orbital floor into the maxillary sinus is orbital fat. The inferior rectus muscle is potentially entrapped within the fracture site.

displacement. If subcutaneous air or orbital emphysema is present, the fracture has permitted communication with the sinuses. Intraorbital edema or hemorrhage within the extraocular muscles may also restrict ocular motility. Extraocular muscle entrapment, most frequently the inferior and medial rectus muscles (Fig. 19-116), produces gaze restrictions and diplopia. Conjunctival lacerations may be accompanied by subconjunctival hemorrhage, which may suggest far more serious injury than that actually present. On the other hand, a small laceration of the conjunctiva may be present in association with a penetrating injury of the sclera and globe. The history and circumstances of the injury must be considered in determining the likelihood of serious injury and the extent of the evaluation necessary because traumatized uncooperative young children may need to be sedated for complete evaluation. If there is extensive subconjunctival hemorrhage and edema and other physical findings and history to suggest a significant possibility for scleral rupture or penetrating injury, surgical exploration of the subconjunctival space may be indicated. The use of a topical anesthetic such as tetracaine or proparacaine anesthetizes the cornea and conjunctiva and permits a close examination for foreign bodies. A Desmarres lid retractor may help exert gentle pressure to open the lids of uncooperative children or if swelling of the lids makes examination difficult (Fig. 19-117). The lids may also be everted over a cotton swab to inspect the underside of the

Figure 19-116  Blowout fracture of the right orbit. The inferior rectus is entrapped in the fracture site, leading to the inability to depress the right eye.

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Figure 19-117  A Desmarres lid retractor may be used to gently open the eyelids of an uncooperative child, or in cases of trauma or preseptal cellulitis in which lid swelling makes opening of the lids for globe examination difficult.

eyelid (Fig. 19-118). The presence of a foreign body under the upper eyelid causes vertical epithelial abrasions on the underlying corneal surface (Fig. 19-119). Corneal abrasions cause extreme pain, foreign body sensation, and photophobia. The use of sodium fluorescein dye applied to the conjunctival cul-de-sac and examination with a cobalt blue filtered light aid in the detection of a superficial epithelial abrasion. The dye stains areas that are missing epithelium. When possible, examination should be conducted with magnification as provided by a slit lamp or magnifying glass. If the history and examination do not prompt significant concern for a retained foreign body, small corneal abrasions do not necessarily require referral for further evaluation. Such lesions may be treated with topical antibiotic drops or ointment, observing significant improvement in signs and symptoms in 24 hours and complete resolution in 48 hours. Patching of the eye to keep the lid completely closed promotes healing of the epithelium and may make the eye more comfortable. Pain and foreign body sensation will persist until the epithelial abrasions have healed completely. Blunt trauma to the eye may cause iritis or an anterior uveitis. Patients complain of dull eye pain and light sensitivity. Signs of iritis include miosis of the pupil, tearing, and ciliary injection. With severe blunt trauma, the iris may be avulsed

Figure 19-118  The upper eyelid may be easily everted by placing a cotton swab at the upper edge of the tarsal plate, just above the lid crease. The lashes are then gently grasped and pulled anteriorly away from the globe and upward to evert the lid over the cotton swab. The tarsal conjunctiva may be inspected for the presence of a foreign body.

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Figure 19-119  Corneal abrasions stained with fluorescein dye and viewed under blue light. The abrasions appear green in the area of corneal epithelial loss where the dye is absorbed.

from its insertion (iridodialysis) or the iris and ciliary body may be avulsed (cyclodialysis). Tears of the pupillary sphincter may also occur, enlarging the pupil, and are a sign that further evaluation should be conducted. If iritis has been present for a few days or if more severe, synechiae may be present and cause the pupil to be misshapen or poorly reactive to light. Eyes with a history of blunt trauma may have sustained damage to the anterior chamber angle (traumatic angle recession) and glaucoma may develop years after the incident. Periodic screening by intraocular pressure measurement is indicated. An injury to the globe may cause bleeding from the small vessels of the peripheral portion of the iris or the ciliary body. Blood in the anterior chamber is called a hyphema. While the red blood cells are dispersed throughout the aqueous fluid, vision may be dramatically decreased. The blood may remain fluid and shift with changes in head position, or it may clot. Blood, which is heavier than aqueous fluid, usually settles out in the inferior portion of the anterior chamber (Fig. 19-120). Complications of a hyphema include rebleeding, glaucoma, and blood staining of the cornea (Fig. 19-121). Increased intraocular pressure increases the risk of developing blood staining. The opacification of the cornea may resolve over several months. In children, this may cause amblyopia. Hyphemas are serious injuries that require evaluation by an ophthalmologist. The majority of hyphemas resolve over 4 to 5 days with only observation and reduced activity. Immediate or delayed opacification of the lens, that is, cataract formation, may occur with penetration of the lens capsule or with blunt trauma alone. Blunt trauma may disrupt the lens zonules and dislocate the lens (see Fig. 19-81).

Figure 19-120  Hyphema. Red blood cells within the anterior chamber have settled into the inferior anterior chamber angle.

Figure 19-121  A complication of hyphema is corneal blood staining. This patient’s left cornea has an area of brown staining inferiorly because of the prolonged presence of blood, especially when glaucoma or increased intraocular pressure is also present, within the anterior chamber.

All eyes receiving significant trauma must have an examination of the fundus. Blunt trauma may cause a macular hole or a rupture of the choroid. A choroidal rupture is visualized as a white concentric ring, around the optic disc, where the underlying sclera has become visible (Fig. 19-122). Retinal tears or detachment may follow trauma, and the clinician’s index of suspicion should take into account the history of the trauma and the presence of symptoms (photopsia, floaters, and visual changes). Patients with high myopia are at greater risk for retinal detachment after blunt trauma. Retinal tears and detachments after trauma may occur either immediately or in the subsequent weeks after the injury. Patients should be advised of the symptoms of retinal detachment and told to seek immediate ophthalmologic care should they develop. Trauma may produce retinal hemorrhages that are limited to the retina or that extend into the vitreous. Crushing injury to the chest may raise intrathoracic pressure, with transmission to the retina causing hemorrhages. Purtscher retinopathy includes retinal hemorrhages, cotton-wool spots, retinal edema, and fat emboli. Terson syndrome is the transmission of subarachnoid hemorrhage to the optic nerve and disc, and results in vitreous and retinal hemorrhages. Infants with shaken baby syndrome may have extensive intraretinal hemorrhages accompanying their intracranial injuries, and the severity of intraocular hemorrhage may, but does not always, correlate with the severity of intracranial injury. In cases of penetrating injury to the eye, the key to examination is to be brief and gentle so as not to complicate the

Figure 19-122  Blunt trauma to the eye has caused a rupture of the choroid. This is visualized as white concentric rings around the optic disc where, beneath the retina, the choroid has separated, making the underlying sclera visible.



injury by causing expulsion of intraocular contents. Immediately after identifying an ocular injury as penetrating, further examination should be limited and conducted in the operating room under general anesthesia. Topical medications should not be applied to the eye, and the eye should be protected at all times with a shield. Penetrating injuries caused by projectiles or foreign bodies may produce subtle findings. In cases in which the index of suspicion is high, appropriate evaluation may include plain film x-rays or imaging studies including CT or MRI. If the potential intraocular foreign body is metallic, MRI scanning is contraindicated. Bibliography American Academy of Pediatrics Committee on Practice and Ambulatory Medicine, Section on Ophthalmology: Eye examination and vision screening in infants, children and young adults, Pediatrics 98:153–157, 1996. Brodsky MC: Pediatric neuro-ophthalmology, ed 2, New York, 2010, Springer. Handler SM, Fierson WM, Section on Ophthalmology; Council on Children with Disabilities; American Academy of Ophthalmology; American Association for Pediatric Ophthalmology and Strabismus; American Association of Certified Orthoptists: Learning disabilities, dyslexia, and vision, Pediatrics 127:e818–e856, 2011.

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Levin AV, Christian CW: The eye examination in the evaluation of child abuse, Pediatrics 126:376–380, 2010. Levin AV, Wilson TW: The Hospital for Sick Children’s atlas of pediatric ophthalmology and strabismus, ed 1, Philadelphia, 2007, Lippincott Williams & Wilkins. Nelson LB, Olitsky SE: Harley’s pediatric ophthalmology, ed 5, Philadelphia, 2005, Lippincott Williams & Wilkins. Raab EL, editor: 2010-2011 Basic and clinical science course (BCSC), Section 6: Pediatric ophthalmology and strabismus, San Francisco, 2010, American Academy of Ophthalmology. Section on Ophthalmology American Academy of Pediatrics; American Academy of Ophthalmology; American Association for Pediatric Ophthalmology and Strabismus: Screening examination of premature infants for retinopathy of prematurity, Pediatrics 117:572–576, 2006. Tasman W, Jaeger EA, editors: Duane’s clinical ophthalmology, Philadelphia, 2009, JB Lippincott. Taylor D, editor: Pediatric ophthalmology, ed 2, Boston, 1997, Blackwell Scientific Publications. Traboulsi EI: A Compendium of inherited disorders and the eye, ed 1, New York, 2006, Oxford University Press. Trobe JD: The physician’s guide to eye care, ed 3, San Francisco, 2006, American Academy of Ophthalmology. von Noorden GK, Campos EC: Binocular vision and ocular motility: Theory and management of strabismus, ed 6, St. Louis, 2001, Mosby. Yanoff M, Sassani JW: Ocular pathology, ed 6, St. Louis, 2008, Mosby.

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ORAL DISORDERS Brian Martin  |  Heather Baumhardt  |  Alene D’Alesio  |  Mamoun M. Nazif  |  David H. McKibben  |  Holly W. Davis

ASSESSMENT TECHNIQUES Because oral and oropharyngeal problems and disorders are common and cause a wide variety of symptoms, a thorough oral examination is an essential component of a complete physical examination, enabling the practitioner to make appropriate diagnosis without undue delay. Key elements of the oral/dental history include the following: 1. Timing of eruption and exfoliation of primary teeth, timing of eruption of permanent teeth, and any problems encountered 2. Brushing and flossing frequency and technique 3. Dietary habits including frequency of bottle-feeding and breast-feeding in infancy; whether infants and toddlers are put to bed with a bottle; time of weaning; frequency of carbohydrate intake; and possible symptoms of eating disorders in adolescence 4. Current source of dental care and frequency of visits 5. Current history of symptoms: oral pain, redness, swelling, drainage, headaches, abdominal pain, decreased appetite (especially for chewy foods) 6. Problems with bite or occlusion 7. History of dental problems and/or orofacial trauma and their treatment 8. Family history of dental problems or disorders A systematic approach to the examination of a child’s den­ tition is essential and should include assessment of the following:

allowed to sit on the parent’s lap. Toys, puppets, and a rubber glove blown up into a balloon can serve as useful distractions. Drawing a face on a tongue depressor and giving it to the child to hold, as well as letting the child look in the dental mirror, are good ways to introduce these basic instruments and make them less threatening. If an otoscope is being used as a light source in a medical office setting, letting the child “blow out the light” is another good introductory game, as is demonstrating the examination on the parent or examiner. Then the examiner can gradually begin the hands-on assessment. In younger children, a “lap exam” may be a useful way to examine an apprehensive child (Fig. 20-1). The parent places the child in their lap, facing them, and the child’s head reclines into the examiner’s lap. It is important to have the parent hold the child’s hand during the examination. A lap examination is not advised if the mother is pregnant, as the child may accidentally kick the mother. If cooperation cannot be achieved despite these measures, immobilization in a papoose board may be necessary. With older children, examination of the patient in the supine or semirecumbent position with good lighting assists visualization and may be more practical. Use of a tongue depressor may be necessary to ensure direct visual access to all intraoral areas, and a dental mirror can be quite helpful, especially in assessing the lingual surfaces of the anterior teeth and gingiva and the buccal surfaces of rear molars. Extra effort and patience may be required to ensure that the mucobuccal folds, sublingual space, lingual surface of the anterior teeth, and anterior palate are adequately visualized. The special aspects of the history and physical assessment of dental and orofacial trauma are detailed in Trauma to the Dentition, later in this chapter.

1. Facial symmetry and balance

NORMAL ORAL STRUCTURES

2. Lip seal at rest position

The oral cavity, including the teeth, gingiva, and periodontal ligaments, is in a constant state of evolution during infancy and childhood. From the early teething stage, through the eruption and exfoliation of the primary dentition, and finally to the eruption of all permanent teeth, the oral cavity provides one of the most visible signs of development. To assist understanding of this chapter and communication when consulting dentists, a review of basic terminology is in order. Each tooth is composed of an outer protective enamel layer; an inner layer of dentin consisting of tubules, which are thought to serve a nutritional function; and a central neurovascular core termed the pulp. The roots of the teeth are anchored in the sockets of the alveolar processes of the mandible and maxilla by an encompassing periodontal membrane or ligament. The neurovascular supply to the root apex also passes through this structure. The bony processes between the teeth are referred to as the interdental septae (Fig. 20-2).

3. Occlusion (bite) and tooth alignment 4. Mandibular excursion in lateral, vertical, and anterior/ posterior planes 5. Integrity of enamel, presence of caries 6. Appearance of gingivae from both labial-buccal and lingual sides 7. Condition of the other oral soft tissues: tongue, palate, mucobuccal folds, and sublingual spaces Successful examination requires close visual inspection of the face; palpation of suspected areas of abnormality; and systematic inspection of the dentition, its supporting structures, and the oral soft tissues. This can be challenging with young children, but patience and a gentle, even playful manner can be of great help. At least initially, young children should be

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Figure 20-1  Oral examination of a toddler. A lap examination is a useful way to examine a young or anxious child. The patient is able to hold the parent’s hand and see the parent during the examination.

posteriorly across the alveolar ridge to the palatine incisive papilla. Two lateral miniature frenula are also evident. The alveolar ridge peaks anteriorly and gradually flattens as the ridge extends posteriorly, forming a pseudoalveolar groove medial to the ridge along its palatal side. This flattened appearance is seen in young infants and gradually disappears with the growth of the alveolar process and the formation and calcification of posterior tooth buds. The mandibular alveolar ridges also peak anteriorly and flatten posteriorly. The mandibular labial frenulum connects the lower lip to the labial aspect of the alveolar ridge. Careful visual inspection and palpation of the ridges should confirm the presence and location of tooth buds. Anterior tooth buds are located on the labial side of the alveolar ridges, whereas posterior tooth buds are often located closer to the crests of the alveolar ridges. Palatal morphology and color are variable. The tongue and the floor of the mouth differ only slightly from those of older children.

Primary Dentition After eruption, the visible portions of teeth are referred to as the crowns, and the interface between them and the gingiva is termed the gingival crevice. Finally, the portions of the gingiva located between teeth are called interdental papillae.

Oral Cavity in the Newborn The lips of an infant reveal a prominent line of demarcation at the vermilion border. The mucosa may look wrinkled and slightly purple at birth, but within a few days it exhibits a drier appearance, with the outer layer forming crusty “sucking calluses.” This callus formation affects the central portion of the mucosa and persists for a few weeks to a few months. The maxillary alveolar arch is separated from the lip by a shallow sulcus. In the midline the labial frenulum extends

Enamel Dentin Pulp

Cementum Periodontal membrane

Development of the alveolar bone is directly related to the formation and eruption of teeth, and normal patterns of dental development occur symmetrically. Eruption times and sequence may be extremely variable, but typically at approximately 6 months of age, the mandibular central incisors erupt. This stage is often preceded by a period of increased salivation, local gingival irritation, and irritability. These symptoms may vary in intensity, but they respond well to oral analgesics and usually subside when the primary tooth erupts into the oral cavity. Other symptoms such as fever or diarrhea have never been proven to be directly related to teething. The lower incisors are soon followed by the maxillary central incisors and the maxillary and mandibular lateral incisors (Fig. 20-3). By the end of the first year, all eight anterior teeth are usually visible. At 2 years, all primary teeth have erupted with the exception of the second primary molars, which erupt shortly thereafter. By the age of 3 years, the full primary dentition is typically present and functional (Fig. 20-4). Any variation in the time and sequence of eruption in an otherwise normal infant may call for early dental referral. In most instances, careful observation is the best course of action. For example, delayed eruption of primary teeth for up to 8 months is occasionally observed, and if seen in the absence of other abnormalities may be a normal variation. Delayed dentition can be a feature of moderate to severe cases of failure to thrive, where it is seen in association with and is a visible reflection of delayed bone age. More rarely, delayed eruption is associated with Down syndrome, hypothyroidism, hypopituitarism, achondroplastic dwarfism, osteopetrosis, rickets, or chondroectodermal dysplasia. A significant

Bone Entrance of neurovascular bundle through root apices

Figure 20-2  Diagrammatic representation of a molar shows the enamel, dentin, and pulp; the cementum; the periodontal membrane; the entrance of the neurovascular bundle through the root apices; and the bony supporting structures.

Figure 20-3  Early primary dentition. The mandibular and maxillary central and lateral incisors are the first to erupt.

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Figure 20-4  Full primary dentition. By age 3, all 20 primary teeth have erupted.

variation affecting a single tooth or only a few teeth should be carefully investigated as well. Spacing (extra space between teeth) during this stage is normal and desirable and often indicates that more space is available for the larger permanent teeth. The completed primary dentition establishes a baseline that dictates to a great extent the future alignment of permanent teeth and the future relationship between the maxillary and mandibular arches. During most of the primary dentition stage, the gingiva appears pink, firm, and not readily retractable. A well-defined zone of firmly attached keratinized gingiva is present, extending from the bottom of the gingival sulcus to the junction of the alveolar mucosa. Rarely, local irritation may develop into acute or subacute pericoronitis, with elevated temperature and associated lymphadenopathy (see Fig. 20-50). Topical and/or systemic therapy may be required for treatment; however, lancing the gingiva to relieve such symptoms is not usually indicated.

Mixed Dentition The mixed dentition stage of development begins with the eruption of the first permanent molars at about 6 years of age and continues for approximately 6 years. During this period, the following teeth erupt from the gums in sequence: mandibular central incisors, maxillary central incisors, mandibular lateral incisors, maxillary lateral incisors, mandibular cuspids, maxillary and mandibular first premolars, maxillary and mandibular second premolars, maxillary cuspids, and mandibular and maxillary second molars (Fig. 20-5). The mixed dentition during this stage undergoes certain physiologic changes including root resorption followed by exfoliation of primary teeth, eruption of their successors, and eruption of the posterior permanent teeth. During the period of root resorption of primary teeth, and for several months after the eruption of permanent teeth, the teeth are relatively loosely embedded in the alveolar bone and more vulnerable

Figure 20-5  Mixed dentition. This transitional stage from primary to permanent dentition begins at age 6 and lasts for about 6 years.

Figure 20-6  Abnormal eruption patterns frequently occur in the early mixed dentition phase. One example is shown here, with eruption of the permanent central incisors behind the primary teeth.

to displacement by trauma. Other minor complications may occur during resorption and exfoliation of primary teeth and eruption of permanent teeth. Gingival irritation can occur as a result of increased mobility of primary teeth but usually disappears spontaneously when the tooth is lost or extracted. Two transient deviations of eruption pattern may occur: the mandibular incisors may erupt in a lingual position behind the primary incisors (“double teeth”) (Fig. 20-6), and the maxillary incisors may assume a widely spaced and labially inclined position (“ugly duckling” stage). Finally, the occlusal surfaces of newly erupted permanent teeth are relatively “rough” (see Figs. 20-5 and 20-43), assisting plaque accumulation that increases the risk of staining, gingivitis, and formation of caries.

Early Permanent Dentition The stage of early permanent dentition marks the beginning of a relatively quiescent period in dental development. Activities are limited to root formation of a few permanent teeth and the calcification of the third molars. By this time the length and width of the dental arches are well established (Fig. 20-7); however, the jaws undergo a major growth spurt during puberty that alters their size and relative position. The gingiva begins to assume adult characteristics, becoming firm and pink in color, with an uneven, stippled surface texture and a thin gingival margin. Puberty is occasionally associated with gingivitis, thought to be secondary in part to hormonal changes (Fig. 20-8). The gingivae become mildly edematous and erythematous and bleed with brushing (the common chief

Figure 20-7  The earliest stage of permanent dentition begins with the eruption of the 6-year molars and central incisors. The cuspids and second molars are the last to erupt.

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than are those whose families ignore it. However, when the habit persists beyond a reasonable age, calm discussions with the child concerning feelings related to the sucking and the physical damage possible if it continues often produce the desired results. When a child has expressed a strong will to cease sucking but is unable to accomplish this goal without help, appliance therapy by a dental professional may be indicated. Referral for oral evaluation and consultation is appropriate after the child has passed the appropriate age of the behavior pattern involved (e.g., older than 5 years of age for digit-sucking habits or 12 months for pacifiers). Figure 20-8  Gingivitis during puberty. The gingival tissues are mildly erythematous and edematous, and they tend to bleed easily with brushing. Hormonal changes and inattention to careful dental hygiene are thought to be contributory.

complaint). Inattention to careful dental hygiene may also contribute to development of this disorder, which necessitates good oral hygiene for control. In Figure 20-9 the primary and permanent dentition are presented diagrammatically.

HARMFUL ORAL HABITS Thumb and Finger Sucking Children often develop sucking habits, using the thumb, finger(s), or objects. Thumb and finger sucking begins antenatally and is considered a normal behavior pattern. However, if the habit persists beyond the late primary dentition stage of dental arch development (5 years), the extrinsic forces applied by the sucking action can produce pathologic changes in the child’s normal arch growth. These deviations range from minor, reversible changes to gross malformations in the dental arches that produce significant anterior open bites and/or posterior crossbites. The degree of change depends on the duration, frequency, and intensity of the sucking habit (Fig. 20-10).

Bottle and Pacifier Habits The forces produced by prolonged use of bottles and pacifiers can first cause dental malocclusions and may, if the habit persists, worsen the resulting deformity with the involvement of adjacent jaw structures. Usually, if the child is weaned from the bottle and pacifier by the age of 12 months, no permanent changes in bite development can be expected. The longer any force is applied, however, the greater the risk that the distortion in the dental arches and adjacent bony structures will not self-correct (Fig. 20-11). Thus the use of bottles and pacifiers should be discouraged by the age of 12 months. After this age, changes in the oral structures have been noted with prolonged use and are more likely to be permanent. Counseling parents during the neo­ natal period not to put their infants to bed with a bottle, but rather to hold them during all feedings, is probably one of the best ways to prevent later difficulties with weaning. Such practices also prevent the development of nursing bottle caries (see Fig. 20-42).

Therapy Clinical management of harmful oral habits should be customized to the child’s age. Obviously, harsh measures to discourage digit sucking in a 2-year-old are not justified and may be counterproductive. Children who receive frequent criticism for thumb sucking are probably more likely to cling to the habit

NATAL AND NEONATAL ABNORMALITIES Teeth Teeth that are present in the oral cavity at birth are called natal teeth, whereas those erupting during the neonatal period (30 days after birth) are called neonatal teeth. The incidence of natal teeth has been reported to be approximately 1 in 2000 births. Although seen in normal infants, this anomaly is more frequent in patients with cleft palate (Fig. 20-12) and is often associated with the following syndromes: Ellis-van Creveld syndrome, Hallermann-Streiff syndrome, and pachyonychia congenita. The majority, about 90%, of such teeth are true primary teeth, but occasionally they are supernumerary. Some are abnormal, with either hypoplastic defects or poor crown or root development. Natal teeth may cause feeding problems for both the infant and mother. Ulceration of the ventral surface of the tongue by sharp tooth edges (Riga-Fede disease) may develop if natal teeth remain in the oral cavity. This condition is usually transient, but in persistent cases symptomatic treatment or extraction of such teeth may be indicated. Most normal-appearing natal teeth can be retained, but those that are supernumerary, abnormal, or very loose may have to be removed.

Gingival Cysts in the Newborn Gingival cysts of the oral cavity are small, single or multiple superficial lesions that are formed by tissues trapped during embryologic growth and occur in about 80% of newborns. They are asymptomatic, do not enlarge, seldom interfere with feeding, and usually exfoliate within a few weeks. Three types of cysts exist: 1. Epstein pearls are keratin-filled cystic lesions lined with stratified squamous epithelium. They appear as small, white lesions along the midpalatine raphe and contain no mucous glands (Fig. 20-13). 2. Bohn nodules are mucous gland cysts, often found on the buccal or lingual aspects of the alveolar ridges and occasionally on the palate. They are multiple, firm, and grayish white in appearance. Histologically they show mucous glands and ducts (Fig. 20-14). 3. Dental lamina cysts are found only on the crest of the alveolar mucosa. Histologically, these lesions are different because they are formed by remnants of dental lamina epithelium. They may be larger, more lucent, and fluctuant than Epstein pearls or Bohn nodules and are more likely to occur singly (Fig. 20-15).

Congenital Epulis in the Newborn Congenital epulis is a benign, soft tissue tumor seen on the alveolar mucosa at birth or shortly after. It is usually found on the anterior maxilla as a pedunculated swelling (Fig. 20-16)

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Figure 20-9  Artist’s illustrations of the primary and permanent dentition. A and B, The numbers represent the average age of eruption for the teeth, indicated in months for the primary teeth and years for the permanent dentition. C and D, The names of specific teeth in the primary and permanent dentition are shown. E and F, Tooth numbers diagram: Primary teeth are lettered A-J from upper right to upper left and K-T from lower left to lower right. Secondary teeth are numbered 1-16 from upper right to upper left and 17-32 from lower left to lower right.

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8y

9 11 10

8m

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17

6

13

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22

19 Maxilla

Maxilla

Mandible

Mandible

19 12

22 13

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17 8

12 11

7m

10 8

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B

Primary dentition

Mandible

Second primary molar

7y

Permanent dentition

Mandible

Third permanent molar (wisdom tooth) Second permanent molar

First primary molar

First permanent molar Second bicuspid First bicuspid Cuspid (canine tooth) Lateral incisor Central incisor

C

D

Primary dentition

Permanent dentition

3

7 8 9 10 6 11 12 13 14

2

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5 4 D C

E F G

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H I

1 16 17

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R

M Q

P O

N

Primary teeth

18 19

29 20 27 28 21 23 25 22 26 24

L

S

E

32

J

A

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Secondary teeth

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 20-14  Gingival cysts. The firm, grayish-white mucous gland cysts on the buccal aspect of the alveolar ridges are called Bohn nodules.

Figure 20-10  Changes in the bite often occur as the result of prolonged digit sucking. This child’s upper arch has been narrowed, and an anterior open bite is developing.

Figure 20-15  Dental lamina cyst. These cysts are found on the alveolar ridge and usually occur singly.

Figure 20-11  A 2-year-old with a prolonged pacifier-sucking habit has severe deformity of the alveolar arches and teeth caused by the extrinsic force of the pacifiersucking action.

but may appear on the mandible or occasionally on both jaws. The mass is firm on palpation, and the overlying mucosa appears normal. Histologically, sheets of large granular cells are seen. Differential diagnosis should include rhabdomyoma and melanotic neuroectodermal tumor of infancy. The lesion is amenable to conservative surgical excision, and recurrence is infrequent.

Melanotic Neuroectodermal Tumor of Infancy

Figure 20-12  A natal tooth associated with cleft palate. Extraction is necessary only if it is of abnormal morphology or causes feeding difficulties.

Figure 20-13  Gingival cysts. The small, whitish cystic lesions seen along the midpalatine raphe are called Epstein pearls.

Melanotic neuroectodermal tumor of infancy is a benign yet aggressive tumor, developing during the first year of life and often found on the anterior maxilla in association with unerupted or erupted teeth. It often bulges and destroys the alveolar bone, thus displacing the associated primary tooth. The tumor mass is grayish blue, firm on palpation, and spherical in shape (Fig. 20-17). Careful surgical removal is effective, and recurrence is unusual.

Figure 20-16  Congenital epulis. This 4-day-old patient has a benign tumor of the anterior maxilla.



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Figure 20-17  Melanotic neuroectodermal tumor. This benign but locally aggressive tumor of the anterior maxilla has produced elevation of the lip and displaced a primary tooth.

DEVELOPMENTAL ABNORMALITIES Soft Tissue Abnormalities

Figure 20-19  Large diastema (excessive spacing) between the front teeth secondary to an inferiorly positioned maxillary frenulum.

Geographic Tongue (Benign Migratory Glossitis) Geographic tongue (benign migratory glossitis) is a painless condition characterized by inflamed, irregularly shaped areas on the dorsum of the tongue that are devoid of filiform papillae. Lesions are red, slightly depressed, and bordered by a whitish band (Fig. 20-18). Spontaneous healing followed by the formation of similar lesions elsewhere on the tongue results in a migrating appearance. The etiology is unknown; however, a strong association with stress and allergies is suspected. Although benign, the course of this disorder may be prolonged for months, and it may recur. Abnormalities of the Frenula During embryonic life, the maxillary labial frenulum extends as a band of tissue from the upper lip over and across the alveolar ridge and into the incisive (palatine) papilla. Postnatally, as the alveolar process increases in size, the labial frenulum separates from the incisive papilla and becomes relatively smaller. With the eruption of primary and later permanent teeth, the frenulum attachment moves apically and further atrophies as a result of vertical growth of the alveolar process. The developmental gap (diastema) between the maxillary central incisors tends to close with the full eruption of the maxillary permanent canines. On occasion the maxillary frenulum fails to atrophy and the diastema persists (Fig. 20-19).

Figure 20-18  Characteristics of benign migratory glossitis (geographic tongue), which is a chronic and often recurring condition affecting the filiform papillae of the tongue. Lesions are red, slightly depressed, and bordered by a whitish band.

The mandibular midline frenulum only rarely maintains a lingual extension and therefore only rarely causes a diastema between the mandibular central incisors. The lingual frenulum extends almost to the tip of the tongue in early infancy and then gradually recedes. On occasion, ankyloglossia (tongue tie) is seen (Fig. 20-20), but this is rarely associated with feeding or speech difficulties. Various surgical procedures have been advocated to correct this condition. In general, frenulectomy is seldom indicated and should be recommended only after appropriate justification. Congenital anomalies may include an enlarged frenulum, labiolingual frenulum extensions, or supernumerary frenula as seen in orofaciodigital syndrome (Fig. 20-21). Gingival Hyperplasia Generalized gingival hyperplasia is a fairly common nonspecific pathologic entity. This disorder is frequently a complication of drug therapy, as it is seen in patients given phenytoin and cyclosporine. Gingival hyperplasia may also be idiopathic or genetically transmitted as in familial fibromatosis. Differentiation of various types of hyperplasia must be based on thorough physical evaluation and appropriate medical history. Histopathologically, it is impossible to differentiate among

Figure 20-20  Ankyloglossia. This extremely short lingual frenulum with a high insertion point on the gingival margin is an indication for surgical intervention.

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Figure 20-21  Multiple hyperplastic frenula are seen in this patient with orofaciodigital syndrome. These frenula interfered with the eruption of teeth, causing rotation and crowding.

Figure 20-23  Eruption hematoma. A bluish, fluid-filled, fluctuant swelling can be seen over the crown of an erupting maxillary cuspid. The lesion resolved without treatment when the tooth erupted.

these various disorders; therefore the final diagnosis and recommendations for therapy should be based on all available clinical data and an appropriate dental consultation.

inflammatory changes. Although meticulous oral hygiene reduces inflammation, it has no significant effect on the degree of hyperplasia.

Phenytoin-induced Gingival Hyperplasia The administration of phenytoin over a period of time frequently causes generalized hyperplasia of the gingiva (Fig. 20-22, A and B). The gingiva may become secondarily inflamed, edematous, and boggy, especially if proper oral hygiene is not practiced. The severity is often related to the degree of local irritation, stemming from poor oral hygiene, mouth breathing, caries, or poor occlusion (alignment). Because hyperplasia tends to recur after surgical excision, gingivectomy is usually reserved for those patients whose overgrowth interferes with function and for those whose therapy has been discontinued.

Fibromatosis Gingiva Fibromatosis gingiva, a rare, genetically determined condition, may be clinically evident at birth and in such instances may prevent or slow subsequent dental eruption. The clinical manifestations include the generalized presence of firm fibrous tissue that extends around the crowns of involved teeth. Inflammation, when present, is usually secondary. Surgical excision of excessive tissues is usually indicated, but recurrence is a possibility.

Cyclosporine-induced Gingival Hyperplasia Cyclosporine has been used primarily to treat patients after organ transplantation. The drug has been demonstrated to directly increase cellular growth of gingival fibroblasts. It also increases the production and retention of collagen. Further, this agent’s immunosuppressive action may predispose gingival tissues to invasion by microorganisms, thereby increasing

A

B Figure 20-22  Phenytoin-induced gingival overgrowth. A, A typical gingival response (hyperplasia) to chronic phenytoin ingestion. Similar gum changes can result from cyclosporine therapy. B, Severe overgrowth. The firm, hyperplastic gingival tissues have completely covered the posterior teeth and are interfering with mastication.

Idiopathic Gingival Hyperplasia Different types of patients, often with significant systemic illnesses or syndromes, may manifest generalized gingival enlargements. These may primarily involve the gingival tissues or may sometimes be related to underlying thickening of cortical bone, which causes gingival hyperplasia by impeding dental eruption. Each of these cases must be evaluated individually for possible etiology and appropriate treatment. Eruption Cysts (Eruption Hematoma) An eruption cyst is a fluid-filled swelling, nontender in the majority of cases, over the crown of an erupting tooth. When the follicle is dilated with blood, the lesion takes on a bluish color and is termed an eruption hematoma (Fig. 20-23). Although the eruption cyst is a superficial form of dentigerous cyst, it rarely impedes eruption. Surgical exposure of the crown is seldom necessary. Rarely, such a cyst may become secondarily infected. In such cases, patients complain of headache or facial pain and the cyst is tender on palpation. Incision and drainage are required typically when infection has developed. Mucocele and Ranula A mucocele is a painless, translucent or bluish lesion of traumatic origin, most often involving minor salivary glands of the lower lip (Fig. 20-24). The lesion may alternately enlarge and shrink. The treatment of choice is surgical excision of the lesion and the associated minor salivary gland. A simple ranula is a retention cyst in the floor of the mouth that is confined to sublingual tissues superior to the mylo­ hyoid muscle. It appears clinically as a bluish, transparent, thin-walled, fluctuant swelling (Fig. 20-25). Herniation of the ranula through the mylohyoid muscle results in a cervical or plunging ranula that becomes more apparent in the oral cavity with the muscle contraction associated with jaw opening. Simple incision and drainage of the ranula is not an acceptable treatment because healing is followed by recurrence. Marsupialization by suturing the edges of the opened cystic wall to

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783

A Figure 20-24  A mucocele on the lower lip, with the characteristic translucent coloration secondary to fluid retention.

the mucous membrane is the recommended treatment. The plunging ranula must be removed in its entirety along with the associated salivary gland to avoid recurrence. Salivary Calculus (Sialolithiasis) Formation of a salivary calculus is rare in the pediatric population, but when it does occur it may affect either the Wharton duct or Stensen duct (Fig. 20-26, A). Partial obstruction of the duct results in pain and enlargement of the gland, especially at mealtime. Although palpation of the stone may be possible, dental radiographs confirm the diagnosis and give appropriate information about its size and location (Fig. 20-26, B). Larger salivary stones wedged within the ducts may cause localized irritation and secondary infection. If the calculus cannot be manipulated through the duct, surgical intervention may be necessary.

Hard Tissue Abnormalities Hyperdontia and Hypodontia Variations in tooth number include both hyperdontia and hypodontia. Supernumerary teeth occur in about 3% of the normal population, but patients with cleft lip and/or cleft palate and cleidocranial dysplasia have a significantly higher incidence. The most common site is the anterior palate (Fig. 20-27). Supernumerary teeth may have the size and morphology of adjacent teeth or may be small and atypical in shape. They may erupt spontaneously or remain impacted. Early consideration of removal is justified because of complications such as impeded eruption, crowding, or resorption of permanent teeth; cystic changes; or ectopic eruption into the nasal cavity, the maxillary sinus, or other sites (Fig. 20-28). Congenital absence of teeth is more often seen in the permanent dentition than in the primary. Most frequently missing are third molars, second premolars, and lateral incisors.

Figure 20-25  Ranula. The bluish, fluctuant swelling in the floor of the mouth is a retention cyst associated with trauma to a salivary duct.

B Figure 20-26  Salivary calculus. A, This sialolith obstructing a salivary duct is observed in the floor of the mouth. B, A dental radiograph of the sublingual space reveals the size and location of the salivary calculus.

Hypodontia is frequently associated with several ectodermal syndromes such as anhidrotic ectodermal dysplasia and chondroectodermal dysplasia (Fig. 20-29). Alterations in Tooth Size and Shape Teeth that are smaller or larger than normal are termed microdonts and macrodonts, respectively. These teeth are genetic anomalies. They are clinically significant when a discrepancy in tooth size and dental arch length results in severe crowding or spacing of the teeth. Size abnormalities are often localized to one tooth or to a small group of teeth (Fig. 20-30). Variations in shape also result from the joining of teeth or tooth buds. Fusion is the joining of two tooth buds by the dentin. Concrescence is the joining of the roots of two or more teeth by cementum. Gemination (twinning) results from the incomplete division of one tooth bud, resulting in a large crown with a notched incisal edge and a single root (Fig. 20-31). Hypoplasia and Hypocalcification Numerous local and systemic insults are capable of causing the enamel defects of hypoplasia and hypocalcification. The most common etiologic factors are local infection such as an

Figure 20-27  Hyperdontia. Erupted supernumerary tooth lingual to the maxillary central incisor in the deciduous dentition.

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Figure 20-28  Supernumerary nasal tooth. A lateral radiograph of the maxilla shows a supernumerary tooth (arrow) erupting through the floor of the nasal cavity in a child with cleft palate who had recurrent epistaxis.

Figure 20-30  A microdont can be seen on this panoramic radiograph near the second molar. Microdonts are often seen in the maxillary lateral incisor region.

abscessed primary tooth, which, when not diagnosed and treated promptly, may damage the enamel of its developing permanent counterpart. Other causes include systemic infections with associated high fever, trauma (such as intrusion of the primary tooth), and chemical injury, of which excessive ingestion of fluoride is an example. Other etiologic factors include nutritional deficiencies, allergies, rubella, cerebral palsy, embryopathy, prematurity, and radiation therapy. Hypocalcification results from an insult during mineralization of the tooth and is seen as opaque, chalky, or white lesions (Fig. 20-32). Hypoplasia results from an insult during active matrix formation of the enamel and clinically manifests as pitting, furrowing, or thinning of the enamel (see Fig. 20-33).

20-34). Depending on the type of amelogenesis imperfecta, inheritance may be autosomal dominant, autosomal recessive, or X-linked.

Heritable Defects of Enamel and Dentin Amelogenesis Imperfecta Amelogenesis imperfecta is the term used to describe a group of genetically determined defects that involve the enamel of primary and permanent teeth without affecting dentin, pulp, or cementum. Although the types of amelogenesis imperfecta are numerous, the major defect in each is hypoplasia, hypomaturation, or hypocalcification. The hypoplastic type results in thin, pitted, or fissured enamel (Fig. 20-33). Hypomaturation manifests as discolored enamel of full thickness but decreased hardness that tends to chip away slowly, exposing the underlying dentin. Radiographic evaluation demonstrates the decreased density of enamel. In the hypocalcified form the enamel is chalky, variable in color, and quickly erodes (Fig.

Figure 20-29  Hypodontia. The congenital absence of teeth is seen in this patient with hereditary ectodermal dysplasia. This phenomenon may be an isolated anomaly or a manifestation of several syndromes.

Dentinogenesis Imperfecta Dentinogenesis imperfecta results in dentin defects and is usually inherited as an autosomal dominant trait. The most common manifestation is opalescent dentin, which may be associated with osteogenesis imperfecta (see Chapter 21). Because of variable phenotypic expression, teeth may be blue, pinkish-brown, or yellowish brown in color and have an opalescent sheen (Fig. 20-35). In any given patient, individual teeth may be variably affected. Despite normal enamel morphology, patients tend to have relatively rapid attrition or wearing down of the crowns, although the rate of wear can be quite variable. The roots are shortened, and the pulp chambers are calcified. Primary teeth are more severely affected than the permanent teeth, although permanent teeth are prone to develop enamel fractures, which can chip or flake off.

DISCOLORATION Three major types of tooth discoloration are frequently observed: (1) discoloration from stains that adhere externally to the surfaces of the teeth (extrinsic); (2) discoloration from various pigments that are incorporated into the tooth structure during development (intrinsic); and (3) intrinsic discoloration secondary to hereditary defects, which was discussed previously.

Figure 20-31  Radiograph demonstrates gemination (twinning), the incomplete division of a tooth bud resulting in a tooth with a large, notched crown and a single root.

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Figure 20-32  Hypocalcification. This 6-year-old patient exhibits early signs of hypocalcification of his permanent molars. Chalky white spots indicate poor calcification of the enamel.

785

Figure 20-34  Amelogenesis imperfecta, hypocalcified type. The enamel defects result in discoloration and erosion caused by errors in the mineralization stage of tooth development and secondary staining.

Extrinsic Discoloration

Hepatic Discoloration

Extrinsic discoloration is limited primarily to patients with poor oral hygiene, those receiving certain medications, those who heavily consume stain-containing foods or drinks, or those who smoke or chew tobacco or other substances. It occurs more often at certain locations, especially on the gingival third of the exposed crown. Diagnosis requires appropriate medical, dental, and dietary histories with emphasis on oral hygiene, food and drug intake, and tobacco habits. Treatment includes scaling, dental prophylaxis and polishing, and the practice of regular oral hygiene. The use of abrasive toothpaste can cause excessive wear of the enamel and should be avoided. Brownish-black stain on the lingual surfaces of anterior and posterior teeth is most common among young children who are taking liquid oral iron supplements and among adolescents who are smokers and tea drinkers. Green stain on the labial surfaces of the anterior maxillary teeth is common among children with poor oral hygiene. The source is usually chromogenic bacteria and fungi (Fig. 20-36). Oranges-red stain is unusual, but when it does occur it can be found around the gingival third of the exposed crown. This stain often results from antibiotic intake, which causes a temporary shift in the oral flora.

Generalized intrinsic discoloration of primary teeth is seen in patients with advanced hepatic disease associated with persistent or recurrent jaundice and hyperbilirubinemia (Fig. 20-37). The intensity of discoloration varies and may be related to the severity of the disease. Color ranges from brown to grayish-brown and usually has no clinical significance unless it is associated with significant hypoplasia of the dentition.

Intrinsic Discoloration Intrinsic discoloration is usually induced during the calcification of dentin and enamel by excessive levels of the body’s natural pigments such as hemoglobin and bile or by pigments introduced by the intake of chemicals such as fluorides or tetracyclines. On occasion, isolated intrinsic discoloration occurs as a result of pulpal necrosis, pulpal calcification, or internal resorption.

Figure 20-33  Amelogenesis imperfecta, hypoplastic type. This process results in generalized pitting of the enamel.

Discoloration due to Tetracycline Teeth stained as a result of tetracycline therapy may vary in color from yellow to brown to dark gray. Staining occurs when the tetracycline is incorporated into calcifying teeth and bone. The enamel and to a greater degree the dentin that are calcifying at the time of intake incorporate tetracycline into their chemical structures. The severity of discoloration depends on the dose, duration, and type of tetracycline administered. The initial yellow or light brown pigmentation tends to darken with age (Fig. 20-38). Tetracyclines readily cross the placenta, so staining of primary teeth is possible if tetracycline is taken during pregnancy. Therefore tetracycline should not be prescribed to pregnant women or to children younger than 10 years of age.

Discoloration due to Erythroblastosis Fetalis Children born with congenital hemolytic anemia caused by rhesus (Rh) factor incompatibility may exhibit distinct discoloration of their primary teeth as a result of the deposition of bilirubin in the dentin and enamel during primary tooth development. The color ranges from green to blue to orange. No treatment is indicated unless discoloration is associated with

Figure 20-35  Dentinogenesis imperfecta. The bluish, opalescent sheen on several of these teeth results from genetically defective dentin. This condition may be associated with osteogenesis imperfecta.

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Figure 20-36  Extrinsic discoloration. The green stain seen on the gingival third of the incisors is associated with poor oral hygiene.

Figure 20-38  Tetracycline discoloration. The severe discoloration seen in this patient is the result of tetracycline administration at a time when calcification of the permanent teeth is occurring.

significant hypoplasia or hypocalcification. The permanent dentition is usually not affected.

to remove bacteria-containing plaque; implementation of systemic fluoride via the water supply or prescribed supplements; and control of the frequency of intake of fermentable carbohydrates, especially those high in sugar and adhesiveness. Dental caries is an infectious, communicable disease. Studies have shown that mothers are the main source of Streptococcus mutans in their infants, with a greater rate of transmission to female than male infants. Cariogenic microbes can be transmitted vertically or horizontally. Vertical transmission occurs when bacteria, such as Streptococcus mutans, pass from caregiver to child through saliva. Horizontal transmission occurs between members of the family or close groups and can also be caused by saliva-sharing activities. The pregnant mother should be counseled to visit her dentist for routine cleanings and examinations and if necessary should have all carious lesions restored, preferably before pregnancy, but if the decay is active and painful the treatment should be completed during the second trimester and when cleared by her physician. The presence of active dental caries and accompanying levels of Streptococcus mutans can lead to vertical transmission of bacteria by the mother to the infant and may increase the risk for the development of carious lesions at a very early age. Children should be referred to a dentist to establish a dental home within 6 months of the eruption of the first tooth, but no later than 1 year of age. Examining children at a young age can help in preventing dental caries, providing anticipatory guidance, and noting any dental malformations or problems that exist. Nursing bottle caries (otherwise known as early childhood caries) involve the primary dentition of the child who is habitually put to bed with a bottle containing milk or another cariogenic (sugar-containing) liquid. This form of caries was

Discoloration due to Porphyria Porphyria, a hereditary disturbance of porphyrin metabolism, may produce a distinct reddish or brownish discoloration of the primary and permanent teeth secondary to deposition of porphyrin in developing teeth (Fig. 20-39).

Isolated Intrinsic Discoloration Teeth with necrotic pulps develop an opaque appearance with discoloration ranging from light yellow to gray (Fig. 20-40; and see Fig. 20-47, B). Such teeth may develop abscesses, periapical cystic lesions, or chronic fistulas. Pulpal calcification (Fig. 20-41) is often associated with a localized yellow discoloration. Internal resorption manifests clinically as a pink discoloration secondary to loss of dentin thickness.

CARIES The interaction of microorganisms, especially Streptococcus mutans, and fermentable carbohydrates results in acid demineralization of susceptible enamel. Caries are seen as yellowishbrown to gray defects in the enamel surfaces of affected teeth (Fig. 20-42). Untreated, carious destruction progresses through the enamel and dentin and with bacterial contamination of the pulp ultimately renders the pulp necrotic. The deep pits, fissures, and grooves characteristic of the surfaces of newly erupted teeth are at increased risk for developing carious lesions (Fig. 20-43; and see Fig. 20-5). Sealing these defects with plastic bonding agents may prevent the initiation of caries. Other preventive methods include brushing and flossing on a daily basis (beginning with eruption of the first tooth)

Figure 20-37  Hepatic discoloration. Generalized intrinsic discoloration of the primary teeth is seen in this patient with biliary atresia.

Figure 20-39  The reddish-brown tooth discoloration associated with porphyria.

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Figure 20-40  Isolated intrinsic discoloration. The central incisor is discolored secondary to trauma. Often, such a change is a manifestation of pulpal necrosis.

Figure 20-41  Radiographic evidence of dystrophic calcification of the pulp and root canal of the upper right primary central incisor.

originally associated with bottle-feeding only; however, an association with frequent and prolonged nocturnal breastfeeding has become apparent. Carious lesions initially develop on the maxillary incisors and later on the molars and canines (see Fig. 20-42, A and B). The mandibular incisors are spared by the protective position of the tongue during nursing. The particularly deleterious effect of nocturnal nursing is due to the fact that the rates of salivation and swallowing are decreased during sleep. Hence the liquid ingested has more prolonged contact with dental surfaces and oral flora. Brushing before bedtime and after any nocturnal feedings is especially important in prevention. The American Academy of Pediatric Dentistry (AAPD) defines early childhood caries (ECC) as “the presence of one or more decayed (noncavitated or cavitated), missing (due to caries), or filled tooth surfaces in any primary tooth in a child 71 months of age or younger.”

The AAPD also specifies that “in children younger than 3 years of age, any sign of smooth-surface caries is indicative of severe early childhood caries (S-ECC).” The AAPD and the American Academy of Pediatrics (AAP) recommend discontinuation of the nursing bottle by 12 months of age. Frequent bottle-feedings through the night, breastfeeding ad libitum, and extended and repeated use of a training (“sippy”) cup are all associated with early childhood caries. Breast milk alone is not implicated in developing early childhood caries, but when given in conjunction with carbohydrates it can be cariogenic. An especially severe variant of nursing bottle caries, severe early childhood caries, is seen in toddlers whose parents have deferred weaning until well after 1 year of age, continued to provide them with night-time bottles, and failed to ensure regular brushing and to seek dental care for their children. In

A

B

C

D

Figure 20-42  Caries. A, The typical pattern of nursing bottle caries, with the upper incisors being the first involved. B, When badly neglected, severe tooth erosion occurs and periapical abscesses may develop. C and D, This 3-year-old victim of medical and dental neglect represents the extreme end of the spectrum of nursing bottle caries. When placed in foster care, she was still drinking from a bottle and had never had her teeth brushed or seen a dentist. C, Marked discoloration, extreme wear, and carious destruction of her entire maxillary dentition are evident. D, All of her upper teeth were abscessed, and her mandibular teeth were severely decayed as well.

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Figure 20-43  The occlusal surfaces of newly erupted molars exhibit varying degrees of pit and fissure depth. The morphology of these patterns makes these teeth more prone to early decay.

such cases decay is extensive and deep, the teeth show signs of wearing down, and numerous abscesses are found (see Fig. 20-42, C and D). This constitutes significant dental neglect, and these children often must undergo multiple dental extractions.

Dietary screening, assessment, and guidance should be an integral component of the care process for dental clients. A diet high in citrus fruits, snacks containing citric acid, and acidogenic sports drinks can lead to dental erosions. Another cause of dental erosion is excessive regurgitation of gastric contents into the oral cavity, which can be related to gastroesophageal reflux disease (GERD). Sugar-containing carbonated beverages, juices, and sports drinks are also acidic and the combination of acid and sugar may act synergistically to cause the severe caries associated with regular carbonated beverage consumption. It takes repeated cariogenic attacks to produce the mineral loss that presents as dental caries. The frequency and form of cariogenic foods or beverages are more important than the amount of sugar in each food item. Foods such as raisins, starches, and candies that stick to the teeth for an extended period of time will continue to slowly leach and metabolize as sugars and acid. The oral bacteria will use these sugars as food and prolong the decrease in pH in the oral cavity. Similarly, any food or beverage that contains fermentable carbohydrates and is consumed over a prolonged period or with increased frequency will have the same effect. Diet suggestions for healthy teeth and gingiva are listed in Table 20-2.

Fluoride Use The frequent and repeated use of fluoride is of critical importance for the control and prevention of dental caries in both children and adults. Optimal fluoride exposure acts as an adjunct in decreasing the incidence of caries, as well as re­ mineralizing enamel. Fluoride is the most effective caries prevention agent and is considered completely safe when properly used. However, the ingestion of high concentrations or incorrect dosages of fluoride can lead to nausea, vomiting, dental fluorosis, or, in extreme cases, death. Parents should be advised to delay the use of a fluoride dentifrice until the child is older than 24 months and can expectorate. When applying fluoridated toothpaste, a small pea-sized quantity should be placed on the brush. Pediatricians and dentists should take into consideration all sources of fluoride before prescribing supplements, to determine the correct dosage (Table 20-1).

Diet and Nutrition Between-meal snacking and the frequency of eating and drinking are related to dental caries incidence. When sugary liquids such as watered-down juice, sugar water, flavored milks, and carbonated beverages (such as soda) are given to young children in bottles or training cups, it can greatly increase their caries risk. Frequent intake of these drinks can promote and accelerate caries progression. According to the guidelines of the AAPD, particular emphasis should be placed on “discontinuation of the nursing bottle by 12 months of age and cessation of at-will breastfeeding after teeth begin to erupt” to decrease the likelihood of early childhood caries. Table 20-1

INFECTIONS For a summary and description of raised intraoral lesions, see Table 20-3.

Viral Infections Herpetic Gingivostomatitis Primary herpetic gingivostomatitis, caused by herpes simplex type 1 virus, is an extremely painful and contagious disease that affects children, especially those between the ages of 6 months and 3 years. The vesicular lesions of the lips, tongue, gingiva, and oral mucosa are preceded by fever, headache, regional lymphadenopathy, and gingival hyperemia and edema. These lesions tend to rupture quickly, leaving shallow ulcerations covered by a gray membrane and surrounded by an erythematous halo (Fig. 20-44; see also Chapter 12). The inflamed gingivae are friable and bleed easily. Lesions heal spontaneously in 1 to 2 weeks without scarring. Because inflammation makes brushing painful, oral hygiene should be maintained with a preparation such as chlor­hexidine or glycerin and peroxide (in very young children) to decrease the incidence of secondary infection. A bland diet and rinsing with viscous lidocaine (in children older than 6 or 7 years) or a solution of equal parts Benadryl (diphenhydramine) and

Dietary Fluoride Supplementation Schedule

Age

Less Than 0.3 ppm F

0.30.6 ppm F

Birth to 6 mo 6 mo to 3 yr 3 yr to 6 yr 6 yr up to at least 16 yr

0 0.25 mg 0.50 mg 1.00 mg

0 0 0.25 mg 0.50 mg

More than 0.6 ppm F 0 0 0 0

From American Academy of Pediatric Dentistry: Guideline on fluoride therapy, Pediatr Dent 24:66, 2002 [special issue: reference manual 2002-2003].

Figure 20-44  Herpetic gingivostomatitis. The ulcerations seen on the oral mucosa were preceded by fever, headache, and lymphadenopathy. Note the erythematous halos around the ulcerations.

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Diet Suggestions for Various Oral Conditions

Food Group

Dental Caries

Periodontal Disease

Dentures

Mucositis/Oral Lesions

General

Limit number of eating times Avoid sticky or retentive foods Have whole grains Popcorn for snacks Avoid crackers, donuts, potato chips between meals Have fruits for dessert/ snacks Avoid dried fruits or fruit roll-ups Don’t sip slowly or often on fruit drinks Avoid fruit drinks

Avoid soft, mushy foods

Encourage chewing Begin by chewing on molar area Work up to biting

Avoid popcorn Have whole grains, foods requiring chewing

Begin with softer foods, such as hot cereal, pasta, soft wholegrain bread Work up to bagels, hard rolls

Avoid hard, sharp, or acid foods Avoid temperature extremes Have soft grains such as warm cereals, pasta, rice, potato Avoid hard crusts

Have plenty of fruits high in vitamin C and carotene, such as citrus fruits (oranges, grapefruit), tomatoes, apricots, cantaloupe, fruit nectars, fruit juices All veggies are fine but concentrate on fresh and frozen rather than canned mushy vegetables Try vegetable juices

Avoid biting into large raw fruits at first, such as apples Begin with soft or canned fruits, juices Cut whole fresh fruit in small pieces and chew with molars Work up to biting with central incisors Avoid biting into raw vegetables at first, such as carrots Cut these into pieces and chew with molars Begin with soft or canned vegetables and juices Work up to biting with central incisors Soft meats such as hamburger, ground chicken, or chicken cut in small pieces, eggs, beans Nuts may be difficult to chew

Avoid acidic fruits such as citrus fruits (lemon, lime, orange, grapefruit) Have bland fruits such as banana, apricot, pear Have fruit nectars rather than acid fruit juices

Grains/cereals (6-11/d)

Fruits (3-5/d) Fresh, frozen, canned juices

Vegetables (2-4/d) Fresh, frozen, canned, juices, potatoes

All veggies are fine Watch sweetened salad dressings Have raw veggies for snacks

Protein (2+/d) Meat, fish, poultry, eggs, beans (lentils, etc.), tofu, nuts Dairy (2-3+/d) Milk, cheese, ice cream, tofu, cottage cheese

All proteins are fine Nuts for snacks

All proteins are fine Avoid nuts that can get stuck in sulcus

Have milk in coffee, soup Cheese in sandwiches, casseroles, etc. Cheese for snacks

Have plenty to maintain oral bone health (see Dental Caries column for other suggestions)

Sweets/fats Avoid slowly dissolving Oil, margarine, candies butter, salad Have sweets as dessert dressing, candy, only sweet desserts, Avoid constant sipping on soda pop sweet beverages (soda, sports drinks)

Same as for caries to prevent root caries

Other

Same as for caries to encourage oral clearance

Have flavored club soda or diet soda Use sugar-free gum

Oral Impairment and Surgery Aim for soft food, or blenderize foods if needed Hot cereals, rice, pasta, soft bread, soups with pasta and rice Juices, blenderized fruits, pureed fruits

Have bland vegetables, avoid tomatoes and tomato juice

Pureed vegetables, vegetable juices

Most protein sources are fine Nuts may be irritating to oral tissues

Eggnogs, liquid breakfast beverages, blenderized meats in broth

Have plenty to maintain alveolar bone health Cottage cheese, cheese sauces, milk in beverages and soups Ice cream for dessert

All dairy products are fine and bland: see Dental Caries column

Go light on these as they can be filling and take the place of more nutritious foods Avoid hard candies that may crack dentures Avoid sticky sweets, which may be difficult to clean off For partially dentate, see Dental Caries column Have casseroles, lasagna, and other soft combination foods to boost nutrients Have casseroles, lasagna, and other soft combination foods to boost nutrients

Go light on these as they can be filling and take the place of more nutritious foods

Have milk-based beverages with ice cream added, cheese soups, tofu or cottage cheese blended with milk, ice cream in sodas As tolerated, have ice cream, sherbet, sorbet for dinner

Most foods can be pureed and are more palatable than canned liquid supplements Pureed baby foods may work; be careful of psychological implications

From Palmer CA: Diet and nutrition in oral health, Upper Saddle River, N.J., 2002, Prentice Hall.

Maalox, in addition to the use of oral analgesics, are indicated to minimize and control pain. In some severe cases, codeine may be required. The use of systemic acyclovir may be indicated in cases with moderate to severe involvement. Topical application of the same drug can be helpful in milder cases. Recurrent infections caused by reactivation of latent herpes simplex virus are fairly common. Lesions are few in number, and more localized; systemic symptoms are absent unless the

host is immunocompromised. Lesions are usually located on the lips, with prodromal symptoms of itching and burning preceding the development of thin-walled vesicles that rupture and become crusty in appearance (see Chapter 12). When intraoral lesions occur, they manifest as small vesicles in a localized group on mucosa that is tightly bound to periosteum. Elective dental treatment should be deferred while the child is infectious.

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Table 20-3

Summary of Raised Intraoral Lesions and Intraoral Ulcerations

Lesion/Ulceration Raised Intraoral Lesions Fibroma Papilloma Abscess Pyogenic granuloma Intraoral Ulcerations Herpetic gingivostomatitis

Herpangina Varicella-zoster

Aphthous ulcer Mucositis Trauma Hand, foot, and mouth disease

Description Most common tumor of oral mucosa, painless, firm, pedunculated; therapy is excision Pedunculated with cauliflower surface, caused by HPV; therapy is excision Painful red area with pimple-like appearance; therapy includes antibiotics with root canal or extraction of offending tooth Painless red nodule, pedunculated, with gingival enlargement; therapy is excision Gingival erythema with multiple oral vesicles, often grouped and more anterior in location; therapy includes pain relief and antivirals for severe cases Multiple vesicles with erythematous borders on tonsillar pillars, uvula, and soft palate; therapy includes pain relief and palliation Pruritic vesicles/pustules on skin with ulceration of mucous membranes; therapy includes pain relief and antivirals for severe cases Ulceration with erythematous halo, typically on “unbound” mucosa; therapy includes steroids and/or antibiotic rinses Inflammation and ulceration of oral cavity; therapy includes improved oral hygiene History from parent/patient important to rule out nonaccidental trauma; treatment is palliative Vesicles and ulcerations on hands, arms, feet, and legs, as well as oral mucosa; treat herpangina

HPV, human papillomavirus.

Hand, Foot, and Mouth Disease Hand, foot, and mouth disease, caused by coxsackievirus A or enterovirus, may present itself with fever, malaise, abdominal pain, cough, and lymphadenopathy. Oral ulcerations (usually 5 to 10 in number) are present, often with vesicles on hands, arms, and feet, for about 10 days. Treatment is palliative. Elective dental treatment should be deferred until oral and skin lesions resolve. Herpangina Herpangina, caused by coxsackievirus A, is typically present in summer and fall months. It is spread via the oral–fecal route. Vesicles are present on the soft palate and tonsillar pillars. They often rupture, leaving shallow but painful ulcerations. Malaise, fever, and lymphadenopathy may be present.

Treatment is palliative, and the disease is self-limited. Elective dental treatment should be deferred until oral lesions and other acute symptoms of infection resolve. Herpes Zoster (Shingles) Herpes zoster results from reactivation of the varicella-zoster virus and inflammation of a dorsal root or extramedullary cranial nerve ganglion. Although the disease is seen in otherwise healthy children, it is more likely to occur in the severely debilitated or immunosuppressed child. The patient exhibits a prodrome of malaise, fever, headache, and tenderness along the affected dermatome that may last 3 days or more. This is followed by the extraoral formation of painful, grouped vesicular lesions that rupture to form ulcerations. The oral cavity also may be affected with erosions when maxillary and mandibular divisions of the trigeminal nerve are involved (Fig. 20-45). Recurrent Aphthous Ulcers (Canker Sores) Aphthous ulcers are similar in appearance to herpetic ulcers. Their specific etiology is unknown, but possible precipitating factors include trauma, stress, sunlight, endocrine disturbances, hematologic disorders, and allergies. Infection with viruses and L-forms; immunologic dysfunction or dysregulation; deficiency of iron, trace elements, vitamin B12, and folate; and genetic factors have all been postulated as causative but have not been proved so by scientific study. The complete pathophysiology is likely due to several factors. Onset is usually during adolescence or young adulthood, and between 5% and 25% of the population is affected at some time during their lives by recurrent ulcers. Unlike herpetic lesions, these ulcerations are not preceded by vesicle formation. They are extremely painful and have a pseudomembrane and an erythematous halo (Fig. 20-46). They can vary in size, number, and distribution. Small aphthae may coalesce into larger lesions. Although any oral mucosal surface may be involved, freely movable mucosa is more frequently involved than tightly bound mucosa. Lesions heal in 1 to 2 weeks without scarring. Recurrences have no regular periodicity and are not accompanied by fever or other systemic symptoms. Absent a recognized etiology, treatment is symptomatic, usually with a topical anesthetic/antiseptic preparation. More recently, use of immunomodulating agents is being studied. A much less common disorder, seen only in children, in which recurrent aphthous ulcers are a feature is Marshall syndrome (also known as periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis [PFAPA]), first described in 1987. Affected patients have onset before 5 years of age and recurring episodes with a distinct periodicity in both duration of symptoms and asymptomatic interval for each given patient. The average duration of episodes is 5 days (range, 3 to 6 days),

Figure 20-45  Herpes zoster. This patient’s infection involved the trigeminal nerve including the nasociliary branch. The extraoral (A) and intraoral (B) lesions stop at the midline.

A

B

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by finding normal neutrophil counts at 2-week intervals for 6 weeks and by the absence of unusual and serious bacterial infections. In Behçet disease, the periodicity is not so exact; fever is not so prominent; oral aphthous ulcers are large and heal with scarring; and genital ulcers, arthritis, and uveitis are typical features.

Bacterial Infections

Figure 20-46  Recurrent aphthous ulcers. The ulceration seen on the labial mucosa is surrounded by a characteristic erythematous halo.

Odontogenic infections are caused by both aerobic and anaerobic microorganisms. Streptococci and staphylococci are isolated frequently; however, any oral flora or opportunistic microorganism may be involved. Oral anaerobic organisms, including fusobacteria, anaerobic streptococci, and Kingella species are often prominent causes.

Dental Abscesses and the average interval is 28 days (range, 2 to 9 weeks). Episodes tend to begin abruptly with a rapid rise in temperature to 39° C or 40° C, accompanied by malaise, chills (not rigors), and often headache with cervical adenitis (seen in 88%) and/or nonexudative pharyngitis (seen in 72%) and/or aphthous ulcers (seen in 70% but thought to be possibly overlooked in some cases). Oral aphthae are three or more in number, shallow, less than 5 mm in diameter, and not described as remarkably painful. Cervical nodes rapidly enlarge bilaterally and, although tender, are not warm, and no overlying erythema, edema, or fluctuance is present. Rhinorrhea, cough arthralgias, and myalgias are not seen. Signs and symptoms tend to clear just as abruptly as they appear, although the aphthous ulcers may take 5 to 10 days to resolve (without scarring). During episodes, affected children look relatively well and between episodes they not only are healthy with normal growth and development but also appear less susceptible to the common cold and other infections their siblings develop. The only associated laboratory abnormalities are mild leukocytosis and an elevated erythrocyte sedimentation rate. Cultures are negative, and antibiotics and antiviral agents have no ameliorative effect. Of note, early administration of one or two doses of prednisone promptly aborts episodes, although its use may shorten the asymptomatic intervals between bouts. Daily administration of cimetidine (used for its immunomodulating properties) for 6 months has stopped episodes in up to 30% of patients; however, they may resume when treatment is discontinued. Tonsillectomy and adenoidectomy have been reported curative in up to 70% of children so treated, and tonsillectomy alone in 50%. Spontaneous resolution has been seen in about 40% after an average of 5 years, but some patients continue to experience recurrences for 15 years or more. At present, infection with periodic flares and some form of immune dysregulation are considered the major etiologic possibilities. The disorder is distinguished from cyclic neutropenia

Abscesses are most common in children with neglected dental caries as a result of poor dental hygiene and irregular dental care. Once caries extend to the pulp, infection and pulpal necrosis ensue, setting the stage for the formation of a periapical abscess. Children with traumatized teeth may go on to develop abscesses if the resulting pulpal hyperemia is so extreme that it causes pressure necrosis, if the neurovascular bundle is severed, or if the pulp is exposed by a crown fracture. Periapical abscesses require endodontic therapy or extraction of the offending tooth. The potential for complications makes early diagnosis important, yet frequently this does not occur because often symptoms are insidious in onset and progression and nonspecific in nature. This is in part because the alveolar processes of the mandible and maxilla in young children are fenestrated anteriorly, assisting early decompression of the abscess through the alveolus and gingiva. Patients may complain of headaches as the abscess enlarges and pressure builds up, and then of abdominal pain after decompression as the draining pus is swallowed, causing gastric irritation. Later in childhood, abscessed maxillary teeth may intermittently decompress through the floor of a maxillary sinus, producing recurrent sinus infections. Other symptoms may include anorexia, avoidance of certain foods, halitosis, toothache, a sensitive tooth, or facial swelling. Nonspecific complaints and complaints of referred pain are more common among children than are complaints of a toothache, and some children have no overt symptoms but report feeling better after treatment. On physical examination the examiner may find localized gingival swelling and/or erythema, a gingival abscess, a fistula, or a granuloma (Figs. 20-47 and 20-48, A). On occasion there is increased sensitivity to percussion or palpation. Left untreated, a periapical abscess of a primary tooth may damage the underlying developing tooth bud. Abscesses may also result in formation of an apical granuloma or a radicular cyst,

Figure 20-47  Dental abscesses. A, An abscess above the left upper lateral incisor developed after an injury in which the patient had chipped that tooth and his central incisor. B, This abscess above the right central incisor has ruptured through the gingiva and begun to drain. The tooth is discolored as a result of pulp necrosis stemming from an injury 2 years earlier.

A

B

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Figure 20-48  A, A deep, neglected cavity in this mandibular molar predisposed to development of a periapical abscess that, after rupture, resulted in formation of a gingival granuloma. B, Left untreated, such abscesses can be responsible for this type of extraoral lesion in which infection has spread by way of a fistulous tract to the skin. Extraction of the offending tooth is necessary for resolution of the extraoral lesion.

A

B

or they may rupture and spread through the adjacent soft tissues to create a fistula, which drains through the skin (see Fig. 20-48, B). In some instances infection can spread into adjacent facial soft tissues, resulting in facial cellulitis (Fig. 20-49). More ominously, the infection may track through lateral pharyngeal, retropharyngeal, or sublingual spaces, threatening the airway and causing sepsis and/or mediastinitis. Rarely, septic thrombosis of the cavernous sinus or jugular veins may result from badly neglected infections. Necrotizing fasciitis of the facial tissues is extremely rare but a lifethreatening complication of these infections. Ludwig Angina Ludwig angina is a potentially life-threatening infection of the mandibular floor. It is usually an infection associated with anaerobic streptococci, although any of the anaerobic flora of the mouth may cause this syndrome. Symptoms begin with signs of dental abscess, but progress to a tense swelling of the mandibular floor and then cervical edema resulting in a “bull neck.” Pain, fever, and difficulty in swallowing are typical of Ludwig angina, with inability to handle secretions marking late stages of disease with airway impingement. It is extremely important to protect the airway in patients with Ludwig angina, as the disease will progress rapidly even with adequate therapy, and the rapid onset of airway compromise is life-threatening. Treatment includes immediate surgical intervention with stabilization of the airway and removal of infected teeth. Intravenous antibiotics are necessary until the patient stabilizes. There is frequent need for incision and drainage of the infected area, and a multidisciplinary team including dental medicine, anesthesia, and otolaryngology may be needed.

Pericoronitis Pericoronitis is a bacterial infection of the gingival soft tissue surrounding the crown of a partially erupted tooth. This occurs when food particles and plaque become trapped under the

Figure 20-49  Facial cellulitis associated with an abscessed maxillary tooth. Hospital admission for intravenous antibiotics, incision and drainage, and extraction of the abscessed tooth was necessary.

residual gingiva, stimulating bacterial growth and abscess formation. The third molars are most commonly involved. Symptoms include localized pain and tenderness and occasionally fever and malaise. Erythema and edema are readily apparent on examination (Fig. 20-50, A), and an enlarged tender submandibular node is often found. Figure 20-50, B demonstrates the presence of both partially impacted and erupted teeth. The maxillary third molars and right mandibular third molar have erupted into a favorable position. The left mandibular third molar is partially erupted; however, it has been unable to erupt into occlusion. Partially erupted mandibular third molars are often associated with pericoronitis and/or periodontal defects distal to the second molar. Treatment options include warm salt water rinses to decrease bacterial counts and dislodge trapped food particles. Antibiotics and possible surgical correction may be necessary.

Acute Necrotizing Ulcerative Gingivitis (Vincent Infection, Trench Mouth) Acute necrotizing ulcerative gingivitis (ANUG) is a fusospirochetal infection caused by fusiform bacilli and Borrelia vincentii, which is seldom seen before the age of 10. Patients experience abrupt onset of fever, malaise, severe mouth pain, and anorexia. The gingiva are reddened, edematous, and friable with necrotic punched-out craters in the interdental papillae. On occasion the palate and tongue are affected as well. Involved areas bleed readily and become covered with a pseudomembrane (Fig. 20-51). The breath is fetid, and cervical and submandibular nodes are enlarged and tender. Treatment generally consists of gentle dental prophylaxis followed by improved oral hygiene measures and topical peroxide applications. In most cases resolution occurs within several days without the use of antibiotics. On occasion, secondary infection or severe involvement may necessitate the use of antibiotics; penicillin is then the antibiotic of choice. Bacterial Pharyngitis Pharyngitis is most commonly a bacterial infection of the tonsils and posterior pharynx, caused by Streptococcus pyogenes in school-age children and adolescents. It is manifested by erythematous inflammation of the tonsils and posterior pharynx, petechiae of the soft palate, and anterior cervical lymphadenopathy (see Chapter 12). There may be associated headaches, fever, vomiting, or abdominal discomfort. Most symptoms will last for 5 to 7 days, and antibiotic therapy decreases suppurative complications while reducing the risk for rheumatic fever in endemic areas. Lemierre Syndrome Lemierre syndrome is a suppurative jugular thrombophlebitis most commonly caused by Fusobacterium species, although many anaerobic oral flora can be involved. The most common age group is adolescents. Typically beginning with a local

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A

793

B

Figure 20-50  A, Pericoronitis involving a partially erupted third molar. Food particles and bacteria have become trapped under the residual overlying gingiva, resulting in inflammation and abscess formation. This condition can occur with eruption of any molar but is most common with partially erupted third molars (wisdom teeth). B, Panoramic radiograph demonstrating the presence of erupted maxillary third molars and mandibular right third molar but only partial eruption of the left mandibular third molar.

pharyngitis, oral anaerobes then progress to parapharyngeal infection and involve the internal jugular vein, invading and causing thrombosis and bacteremia. Embolic disease to the lungs and other tissues as well as septic shock may then be seen. Previously thought to be rare, this syndrome is once again gaining in frequency. Without prompt recognition and aggressive antibiotic therapy, patients may require critical care management for shock and airway compromise. Treatment involves long courses of intravenous therapy and anticoagulation in select cases.

seen in the immunocompromised host, can result in marked hypertrophy and fissuring of the tongue mucosa. Although culturing is difficult and not reliable, diagnosis may be made on the basis of clinical findings or examination of a potassium hydroxide (KOH) preparation. Treatment consists of local application of nystatin (miconazole or other antifungal agents for severe or chronic cases) and control of the underlying causes including sterilization of nipples used for formula feedings.

TRAUMA Fungal Infections Candidiasis (Moniliasis, Thrush) Oral candidiasis results from infection with the opportunistic pathogen Candida albicans. This is seen most commonly as a relatively benign infection in infants (as thrush) and in young children who may be receiving or have recently completed a course of antibiotic treatment. Less frequently, it may be seen in immunocompromised or immunosuppressed children or in those with serious underlying systemic diseases. In the latter the infection is likely to be more extensive and severe. Oral forms can appear to be pseudomembranous or plaquelike. Scraping of the lesion reveals a raw and erythematous base with bleeding from torn capillaries. HIV infection or other immune deficiency must be ruled out when severe or therapy-resistant disease is present in children. Common sites of involvement are the buccal mucosa, tongue, palate, and commissures of the lips (Fig. 20-52). The intraoral lesions of acute infection are soft, elevated, creamy white plaques that do not scrape off easily. Chronic candidiasis, usually

Assessment of Patients with Orofacial and Dental Injuries In evaluating patients with orofacial and dental trauma, key elements of the history include when, where, and how the injury occurred; the child’s subsequent behavior; any prior treatment; and general health and tetanus immunization

A

B Figure 20-51  Acute necrotizing ulcerative gingivitis. The infected gingiva exhibits localized necrosis and hemorrhage and is covered with pseudomembranes.

Figure 20-52  Candidiasis. A, Involvement of buccal mucosa with white plaque. B, Mucocutaneous infection of the commissures of the lips.

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status. It is important to note whether there was loss of consciousness, as well as any nausea or vomiting. It is also important to note whether the child has age-appropriate responsiveness, as well as how quickly the child returned to consciousness. In asking about the mechanism of injury, the examiner must determine the forces involved. Did the child trip and fall while walking, or was he or she running; if riding a bike, how fast was he or she going; in the case of falls, from what height, onto what kind of surface? This gives the examiner a better idea of the potential severity of injury and risk of associated injuries. If the mechanism of injury reported is minor and significant injuries are found, if the mechanism does not fit the injuries seen, and/or if a parent tries to prevent an older child from giving a history, the possibility of abuse should be considered. Physical examination is first directed at determining the adequacy and stability of airway, breathing, and circulation followed by evaluation for associated head and neck injury. When these areas have been cleared and/or stabilized, then the examiner may proceed with the orofacial examination, assessing the extent and nature of injuries. Because the presence of underlying injuries is often indicated by the degree and nature of overlying soft tissue trauma, assessment begins with external inspection of facial structures for swelling, deformity, contusions, abrasions, and lacerations. The presence of associated periorbital ecchymoses or swelling; subconjunctival hemorrhage or edema; diplopia; and nasal bleeding should raise suspicion of frontal skull and midface fractures. Battle sign, bruising of the mastoid process, is an indication of basilar skull fracture and may suggest underlying brain trauma. Meticulous examination of cranial nerve function is essential. This is followed by observation of occlusion and jaw motion on opening and closing, checking for deviation or trismus. Older patients can be asked if it feels normal when they bite down; parents of young children can report if the child’s occlusion looks normal. The temporomandibular joint should be palpated while the child’s facial expression is observed, assessing for tenderness, snap, or pain on opening and closing. Next, intraoral soft tissues are inspected for evidence of swelling, hematoma, abrasions, and lacerations. Displacement, loosening, and fractures of teeth are noted. Palpation of facial bones and the labial and lingual surfaces of the dental arches and assessment of abnormal maxillary mobility may be best left until last because resulting pain may reduce cooperation. All internal and external lacerations must be carefully inspected to check for injury to underlying neural and ductal structures. Recommended radiographs include apical and occlusal views for displacement or loosening of a permanent tooth, panoramic and facial bone radiographs for possible mandibular fractures, and a CT scan for suspected maxillary and midface fractures.

Soft Tissue Injuries A variety of soft tissue injuries including lacerations, contusions, abrasions, perforations, avulsions, and burns may occur. Although soft tissue injuries may occur in isolation, they are often associated with injuries of teeth and supporting bones. Thus any assessment of a soft tissue injury must include careful attention to the teeth and underlying structures. The injured area should be cleansed of blood clots, debris, and foreign material, and then carefully examined to determine the extent of tissue involvement. Mechanical debridement of any ragged, necrotic, or beveled margins may be necessary. Appropriate tetanus prophylaxis should also be considered. Saline rinses, careful attention to oral hygiene, penicillin prophylaxis, and soft diet are mainstays of management of all intraoral soft tissue injuries. Abrasions Superficial abrasions usually heal without complications. Extensive abrasions should be covered with a water-soluble, medicated gauze after irrigation. Extensive deep abrasions may require skin grafting. Contusions A contusion, or bruise, usually requires no treatment, and healing proceeds favorably in most instances. However, contusions are often associated with underlying injuries; therefore a careful examination of adjacent structures is indicated. Perforations Perforations are small, deep wounds caused by sharp objects and are fairly common in children, especially as a result of falls with such an object in the mouth. Careful examination of the wound and the object is essential. After careful inspection and irrigation, larger wounds should be closed in layers; smaller wounds may not require closure. If doubt exists concerning foreign bodies and/or contamination, a drain should be left in place and proper antibiotics prescribed. The possibility of damage to large vessels should be recognized, especially when the perforation involves the posterolateral palate or a tonsillar pillar (see Chapter 23). Avulsions (Degloving Injuries) Avulsions of oral soft tissues are uncommon injuries, yet when they occur they may involve deep and superficial tissues (Fig. 20-53, A and B). Small avulsions can be treated by undermining and suturing surrounding tissues. Larger avulsions can be treated by reattaching the avulsed tissues or by use of a graft. Lacerations Lacerations of facial and oral tissues are common in children. Small intraoral lacerations with well-approximated margins do not require suturing. Bleeding usually subsides spontaneously,

Figure 20-53  Degloving injury, before (A) and after (B) repair. Such an injury to the oral mucosa requires immediate inspection, irrigation, approximation, and suturing.

A

B

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A Figure 20-54  This laceration of the oral mucosa—deep and not well approximated—requires immediate treatment and surgical closure.

and healing proceeds satisfactorily. Large lacerations, throughand-through lacerations, and those associated with extensive, recurrent, or uncontrolled bleeding require careful assessment and surgical closure (Fig. 20-54). To reduce risk of infection, saline irrigation and antimicrobial prophylaxis are indicated for all intraoral lacerations, regardless of whether sutures are required. Lip lacerations are often caused by penetration of teeth through the labial soft tissues (Fig. 20-55). Thus the adjacent dentition must be carefully inspected for evidence of chipping and for signs of loosening or displacement. If chipping is found, embedded tooth particles should be suspected. These may be difficult to palpate but are easily detected radiographically. If present, they must be removed to prevent infection. Because the trauma that results in chin lacerations commonly involves forced occlusion of the dentition with transfer of impact forces to the underlying bone and condyles, these cases warrant assessment of underlying dental and bony structures (see Figs. 20-55, 20-65, and 20-66). Forced occlusion injuries can also produce tongue lacerations. Closure is required for large, gaping wounds with persistent bleeding (Fig. 20-56, A), but conservative management is best for smaller lesions (Fig. 20-56, B).

A

B Figure 20-56  Tongue lacerations. A, A large gaping tongue laceration in a toddler produced by the upper front teeth being forced through the tissue by a fall with the tongue protruded. This type of injury requires suturing. B, This small laceration, although gaping slightly, does not require surgical closure.

Soft palate lacerations require a thorough pharyngeal inspection. The possibility of foreign body entrapment, immediate or delayed vascular injury (particularly when the lacer­ ation involves posterolateral structures), or formation of pharyngeal abscesses should be seriously considered. Lacerations involving the labial frenulum of infants are common and require only restriction of lip manipulation and a soft diet.

B

Figure 20-55  A, This boy incurred a forced occlusion injury when hit by a car and thrown from his bike. Note the chin laceration and through-and-through lip laceration. B, He also had bilateral condylar neck fractures of the mandible. In this radiograph the condyles bend inward at nearly 90 degrees above the fracture lines.

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mucositis. Patients are encouraged to drink plenty of liquids. Patients undergoing chemotherapy are encouraged to brush two or three times per day with a soft bristle toothbrush. If poor oral hygiene is present, chlorhexidine rinses should be encouraged. If a patient develops oral mucositis, chlorhexidine may need to be discontinued as its high alcohol content may dehydrate the tissue. It is also important for patients undergoing chemotherapy to supplement fluoride because of the possibility of xerostomia (dry mouth), which may lead to increased caries risk.

Trauma to the Dentition Figure 20-57  This electrical burn was the result of chewing on an extension cord. In this site, delayed hemorrhage after separation of the eschar and deformity with scarring are particular problems.

Burns Burns involving the oral cavity usually heal rapidly but, when deep, may do so with contracture and scarring. Burns at the angle of the mouth incurred by chewing on an electrical cord (Fig. 20-57) are particularly problematic. After the injury an eschar forms over the necrotic tissue. This tends to separate approximately 10 days later, at which time profuse bleeding from the labial artery may occur. Parents need to be informed of this possibility and instructed on what action to take if it should occur. Splints fabricated from dental materials are important in long-term management to prevent or minimize contracture by maintaining proper anatomic relationships during healing. Traumatic Ulcers Painful ulcerations may result from mechanical, chemical, or thermal trauma. Injury may be secondary to irritation by objects, trauma during mastication, toothbrush trauma, or abnormal habits. Large ulcerations involving the buccal mucosa or lower lip may be associated with cheek or lip biting after inferior alveolar nerve block (Fig. 20-58). Topical peroxide application (Gly-Oxide) is useful in cleansing the area. Lesions usually heal without scarring, but secondarily infected lesions may require antibiotic therapy. Identification and elimination of the habit is necessary for resolution of habit-related lesions. Oral Mucositis Oral mucositis is an inflammation and ulceration of the oral cavity. It is commonly seen as a complication of cancer treatment. Good oral hygiene is important for patients with oral

Figure 20-58  Traumatic lip ulceration caused by lip biting after administration of local anesthesia.

As noted earlier, facial injuries in childhood frequently involve the dentition and supporting bones. One prospective study showed that 50% of children had suffered at least one dental injury by age 14. Although falls are the major source in early childhood, bicycle and skateboard accidents, contact sports, fights, and motor vehicle accidents become more prevalent with advancing age. The possibility of child abuse must be considered for all age groups. The risk of facial injuries is relatively high in (1) children with neurologic disorders that impair coordination; (2) children with protruding maxillary anterior teeth; (3) children with a deviant anatomic relationship, such as an anterior open bite or a hypoplastic upper lip; and (4) 2- to 3-year-old children, with immature motor skills and coordination. Preventive measures, such as use of helmets, mouthguards, and seat belts, significantly reduce the incidence and severity of such injuries. Potential Complications Pulp hemorrhage and/or vasodilation of the pulp vessels are a common response to concussive injury to a tooth and can lead to development of permanent discoloration within 10 to 14 days. Excessive pulpal vasodilation can actually result in pressure necrosis of the pulp. Injuries that produce loosening or displacement of a tooth disrupt the anchoring periodontal ligament. If disruption is mild, there may be no sequelae, although in some cases it stimulates overactive bony repair, ankylosing the tooth in place. When disruption is more severe, the neurovascular bundle can be torn, resulting in pulpal necrosis, which then may lead to abscess formation. Finally, dental fractures in which dentin and/or pulp are exposed open a pathway for bacteria and may lead to abscess formation. The fracture surface must be sealed emergently. Several extensive classifications of tooth injuries have been suggested, but for the purpose of this text a more simplified descriptive classification is presented. Crown Craze or Crack A significant number of children are discovered during routine physical examination to have “cracks” in the enamel of their teeth. Such cracks are presumably caused by relatively minor trauma or temperature changes. The majority of such teeth are asymptomatic and require no treatment. Crown Fractures without Pulpal Exposure Fractures that traverse only the enamel layer often require no treatment other than smoothing down rough edges and ensuring close follow-up (see Fig. 20-47, A). However, any fracture of the crown that results in exposure of the dentin requires emergency treatment to prevent infection and subsequent pulp necrosis (Fig. 20-59) because oral flora enter the dentinal tubules and rapidly migrate to the pulp. The treatment of choice is to seal the exposed dentin with calcium hydroxide and protect it with an acid-etched resin bandage. This procedure should be performed as soon as possible after the injury. As noted earlier, dental fragments are occasionally embedded

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Figure 20-59  These crown fractures demonstrate involvement of enamel and dentin, without exposure of the pulp. Immediate dental referral is necessary to prevent contamination of the pulp through the dentinal tubules.

Figure 20-61  A vertical fracture of the upper central incisor extending below the gum line resulted in pulp exposure.

in the soft tissues of the lip or tongue; therefore appropriate examination and palpation of these areas are indicated. The presence of such fragments may be confirmed by radiographic examination.

Displacement Injuries

Crown Fractures with Pulpal Exposure Fractures that traverse all three tooth layers to expose the pulp usually involve a significant loss of tooth structure. On physical examination, the fracture surface reveals the pink central pulp surrounded by the beige dentinal layer (Fig. 20-60). Severe vertical or diagonal fractures may also result in pulp exposure and can at times extend to involve the root (Fig. 20-61). Such teeth must be treated on an emergency basis by pulp capping, pulpotomy, or root canal therapy, depending on severity. Root Fractures Root fractures are less common in the primary dentition, and when they occur they usually require no therapy. If the coronal segment represents an aspiration risk, or the patient has traumatic occlusion, the treatment of choice is extraction of the primary tooth. Root fractures of permanent teeth may occur with or without loss of crown structure and may be asymptomatic (Fig. 20-62). If a seemingly normal tooth is tender or exhibits increased mobility after trauma, root fracture should be suspected and radiographs obtained. In general the prognosis is good, and treatment may include splinting the involved segment, with or without root canal therapy. If the root fracture is in the coronal third of the tooth, splinting is recommended for 2 or 3 months. If the fracture is not in the coronal third, splinting is indicated for 4 weeks.

Figure 20-60  This crown fracture involves enamel, dentin, and the soft tissue of the pulp as well. Immediate dental referral is mandatory to save the tooth.

Displacement injuries result in extrusion, intrusion, or lateral displacement (labially or lingually) and are most commonly seen in the primary dentition, where the combination of a short root length and a “pliable” bony structure seems to permit displacement to occur (Fig. 20-63, A and B). Displacement injuries are often the cause of significant discomfort, bleeding, and possible interference with mastication and occlusion. All result in some degree of disruption of the periodontal ligament. Further, being the result of moderate to severe mechanisms of injury, fractures of underlying bony structures are common associated findings. Because the primary teeth are most vulnerable to these types of injury, there is always a risk of damage to and interference with normal development of permanent tooth buds; therefore immediate care is advised. Treatment may include observation with or without prophylactic antibiotic coverage, immediate correction when lingual displacement is likely to interfere with mastication, or extraction of the displaced tooth in cases of severe labial or vertical displacement. Most intruded primary teeth re-erupt within 6 to 8 weeks, but may take up to 6 months for spontaneous re-eruption. Sensible oral hygiene and an appropriate diet should be observed after displacement to improve outcomes. In general, displaced permanent teeth should be repositioned and splinted, with close follow-up. It is not uncommon for these teeth to require root canal therapy. Avulsion and Reimplantation Avulsion is the complete displacement of a tooth from its socket and is seen mostly in preschool and early school-age children. Reimplantation of primary teeth is not recommended.

Figure 20-62  This radiograph reveals a root fracture in the apical third of an upper primary incisor. This was suspected clinically because of tenderness and increased mobility.

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A

Figure 20-65  A panoramic radiograph reveals a nondisplaced mandibular fracture extending through the wall of the third molar tooth bud. An associated hairline fracture exists near the midline on the patient’s right.

6. Ensuring that the patient has received complete tetanus immunization. Follow-up care also includes chlorhexidine rinse, appropriate antibiotic, and a soft diet for 2 weeks

Trauma to Supporting Structures B Figure 20-63  Displacement injuries. A, This primary lateral incisor was traumatically intruded. Such intrusions usually spontaneously re-erupt. B, Lateral displacement. The left upper central incisor is lingually displaced, and its crown appears elongated as a result of partial extrusion. This would require repositioning and splinting.

On the other hand, reimplantation of permanent teeth is an acceptable technique with a relatively good prognosis (Fig. 20-64, A and B). The major factors in improving prognosis are as follows: 1. A short period between avulsion and reimplantation, preferably less than 15 minutes, or as soon as possible 2. Appropriate storage of the avulsed tooth (the most desirable “medium” is the socket itself, followed in order of preference by ViaSpan, Hanks’ balanced salt solution, cold milk, saliva, saline, and water) 3. Appropriate irrigation of the surgical site, replacing the tooth into the socket without pressure, and stabilization with the use of a splint 4. Appropriate removal of the pulp within 2 weeks as a first step in completing root canal treatment, unless the tooth was immature with incomplete root formation 5. Removal of the splint within 2 weeks

The developing facial bones in the young child are small relative to the calvarium and thus somewhat protected by it. They are compact, spongy, and have greater elasticity, which tends to reduce the risk of fractures. However, the relatively thin outer cortices make alveolar process fractures somewhat more likely with dental displacement injuries, and their growth centers and developing tooth buds serve as weak points and thus are major sites of fractures when they do occur (Fig. 20-65). Finally, their thick periosteum has remarkable osteogenic potential, which speeds healing remarkably. Injuries to these bony supporting structures of the dentition may result from birth trauma (rarely), bicycle accidents, car accidents, various physical and sporting activities, child abuse, and animal bites. Because major forces are required to produce jaw fractures in children, the examiner must carefully search for evidence of associated head and neck injuries (Fig. 20-66) and be vigilant in observing for evidence of expanding hematomas that may later compromise the airway. Fractures of the Mandible Excluding nasal fractures, the most common facial fractures in children involve the mandible. The two major mechanisms are forced occlusion and lateral or frontolateral impact. Forced occlusion can produce hemarthrosis of the temporomandibular joint, a compression fracture of the condylar process, or a greenstick condylar fracture (see Fig. 20-55). These injuries can be associated with fractures of the molar crowns. Lateral and frontolateral blows tend to produce fractures of the mandibular body, usually through the wall of a developing tooth Figure 20-64  A, Four permanent incisors have been avulsed. B, The teeth have been reimplanted successfully.

A

B

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Fractures of the Maxilla and Midface

Figure 20-66  CT scan reveals intrusion of the mandibular condyle into the middle cranial fossa as a result of an extremely severe forced occlusion injury. Careful “pull back” and splinting is a common treatment for this type of injury.

bud (see Fig. 20-65). Because the mandible is an arch through which the force of the impact is transmitted, these injuries are often associated with a contralateral fracture of the mandibular body or condyle (see Fig. 20-65). Important diagnostic clues may include ecchymosis, facial swelling, deviation on opening or closing (Fig. 20-67), trismus, and malocclusion that may be apparent visibly or only subjectively evident to the patient. Severe bilateral mandibular fractures can result in posterior displacement of the mandible and tongue with secondary airway obstruction. Palpation may reveal localized tenderness and hematoma formation, a step-off, or abnormal mobility with or without gingival tears. Examination of the child with a temporomandibular joint injury may reveal tenderness and decreased motion, clicking, or crepitus when the examiner’s fingers are pressed just anterior to the external auditory canal as the child opens and closes the mouth. A panoramic radiograph and a mandibular series should be ordered if there is clinical suspicion of a fracture. If routine views are unrevealing, CT may be called for in certain unusual, difficult, or complex cases. Management requires careful assessment of the stability and type of erupted dentition, as well as the location of the tooth buds. Nondisplaced fractures with no occlusal abnormalities may require no treatment other than a soft diet. Most displaced fractures can be treated conservatively: first by appropriate reduction, followed by simple intermaxillary fixation or intraoral splints and circumferential wiring (closed reduction). Seldom is open reduction indicated; however, if this technique is used, careful placement of intraosseous holes is essential to avoid damaging the developing tooth buds.

Other than minor fractures of the alveolar process seen with dental displacement injuries, fractures of the maxilla and midface are uncommon in infants and young children. This is because the relatively large cranial vault provides protection, with the forehead bearing the brunt of most frontal impacts. The elasticity of the facial bones further reduces the risk of fracture. When such injuries do occur in older children and adolescents, they are generally the result of major impacts and are often associated with injuries to the nose, ethmoid sinuses and orbits, and the frontal portion of the skull. As noted earlier, careful attention must be given to the airway, breathing, and circulation, along with assessment for associated head and neck injuries. Exact diagnosis of the location and extent of maxillary fractures is challenging and necessitates a thorough and detailed examination and specialized imaging techniques. CT scan of the midface in both sagittal and coronal planes is the most reliable diagnostic tool. The Le Fort classification of midfacial fractures, devised in 1901, divides them into three groups (Fig. 20-68) as follows: 1. Le Fort I, involving primarily the maxilla, separating it from the pterygoid plates and the nasal and zygomatic struts (Fig. 20-69) 2. Le Fort II, in which the maxilla and nasal complex are separated from the orbits and the zygoma (Fig. 20-70) 3. Le Fort III, in which there is complete separation of the midface from the cranial vault at the level of the nasoorbital ethmoid complex and the zygomaticofrontal suture area with extension through the orbits (Fig. 20-71)

A

C

Figure 20-67  A method of measuring deviation of the mandible on opening, showing a shift to the fracture side the width of one lower central incisor.

LeFort I

B

LeFort II

LeFort III combined with I and II

Figure 20-68  Diagrammatic representation of fracture patterns of Le Fort fractures. A, Le Fort I: the fracture separates the maxilla from the pterygoid plates and the nasal complex. B, Le Fort II: the fracture line separates the maxilla and nasal complex from the orbits and the zygoma. C, Le Fort III: the fracture line separates the midface from the cranial vault, traversing the zygomaticofrontal sutures and extending through the orbits and the naso-orbital ethmoid complex. Fracture lines of types I and II are shown as well because they are commonly present with the Le Fort III.

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Figure 20-69  CT scan shows a Le Fort I fracture. The maxilla is separated from the midface. The degree is greater on the right.

Often these fractures occur in combination, and the involved maxilla may be further fragmented. It is not unusual to encounter the combination of a Le Fort II on one side and a Le Fort III on the other. Sagittal splitting of the palate, often accompanied by palatal laceration, is seen in about 10% of patients. Associated mandibular fractures are common. The diagnosis of Le Fort I fracture is often made by finding abnormal mobility of the maxilla when the maxillary dental arch is grasped anteriorly and a vertical “pull–push” maneuver is performed, although on occasion the fracture may be impacted or incomplete and malocclusion without mobility is found. Associated findings may include midfacial swelling or ecchymosis (Fig. 20-72; and see Fig. 20-70), epistaxis, malocclusion, and apparent elongation or shortening of the midface. Le Fort II fractures should be suspected when both the maxilla and nasal complex are mobile. Physical findings are similar to those noted in Le Fort I fractures, but wrinkling of the skin above the nose may also be seen.

A

Beyond these findings, patients with Le Fort III fractures tend to have prominent periorbital hematomas and swelling and may have subconjunctival hemorrhage, disconjugate gaze, and limited extraocular motion, any of which should prompt careful assessment for associated orbital rim and frontal bone fractures. Up to 25% of patients with Le Fort II and III fractures have cerebrospinal fluid rhinorrhea and pneumocephaly. Injury to the naso-orbital ethmoid complex can also cause detachment of the medial canthal ligaments, with resultant widening of the intercanthal distance. Progression of edema and often profuse nasopharyngeal bleeding necessitate frequent reassessment of the patient’s airway and circulatory status. The airway may need to be stabilized via orotracheal intubation (or rarely tracheotomy) to protect the patient from aspiration of blood or airway narrowing from edema or an expanding hematoma. Total blood loss must be monitored carefully, the patient typed and crossmatched, and blood replacement initiated when necessary. Once airway, circulatory status, and head and neck injuries have been stabilized or ruled out, appropriate imaging can be performed and treatment initiated. Primary objectives include control of hemorrhage; reestablishing normal occlusion, vertical dimension, and width of the midface; and immobilization of fractures and restoration of normal fronto-orbital architecture. This often necessitates a team approach. It is preferable to plan and carry out the repair as soon as possible after more serious injuries are stabilized because delays increase infection risk and can make repair more difficult as edema worsens and the bones begin to knit over the first 2 to 3 days postinjury.

CRANIOMANDIBULAR DYSFUNCTION (TEMPOROMANDIBULAR JOINT DISEASE) The term craniomandibular dysfunction (CMD) is used to define a set of signs and symptoms that involve the masticatory musculature, the temporomandibular joint (TMJ), or both. Most clinicians and investigators agree that signs and

B

Figure 20-70  Le Fort II fracture. This adolescent boy sustained multiple midfacial and naso-orbital injuries in a motor vehicle accident. A and B, He has a collapsed midface with marked swelling of the upper lip, deviation of the nose, and prominent periorbital swelling and ecchymosis. (Courtesy Joseph Andrews, MD.)

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A

801

B

Figure 20-71  Le Fort III fracture. This 10-year-old girl was hit by a car while sledding. Clinically, she had bilateral raccoon eyes; severe facial edema with a mobile maxilla; and bleeding from the nose, mouth, and eyes. She had the constellation of fractures that constitutes a Le Fort III fracture and numerous other facial and skull fractures. A, CT cut shows multiple fractures involving the anterior, posterior, and medial walls of the maxillary sinuses. B, Bilateral zygoma fractures are evident in another cut.

symptoms of CMD may include the following: tenderness or pain of the masticatory muscles, TMJ tenderness, limited or asymmetrical mandibular movements, clicking or crepitation of the joint, and secondary headaches. Reported signs and symptoms are generally mild, fluctuate over time, and exhibit no sex predilection. Their prevalence ranges from 9.8% to 85% of subjects surveyed, with results varying with patient selection, subject age, sample size, and definition of diagnostic criteria. Prevalence has been shown to increase with age. Despite the high frequency of CMD signs and symptoms, it is estimated that only 5% of children and adolescents are in need of treatment. The discrepancy can be attributed to the subclinical nature of many of the signs and symptoms recorded in epidemiologic studies. The etiology of CMD is multifactorial. Oral parafunctional habits such as bruxism (grinding), bite deviations (malocclusion), trauma to the TMJ or mandible, orthodontic treatments, and history of stress are often cited as etiologic factors. Of these, bruxism and stress (possibly with attendant jaw clenching) are most significantly associated with symptomatic CMD. Trauma, the next most common factor, has been reported to be responsible for TMJ pain in 26% of pediatric patients with CMD. We have also encountered a number of young musicians, especially violinists who practice for long periods daily, who have CMD symptoms. Both cross-sectional and longitudinal studies have failed to show a one-to-one relationship between signs and symptoms of CMD and morphologic and

functional malocclusion. Hence malocclusion alone is not a primary etiologic factor. Similarly, orthodontic treatment has not been shown to significantly increase or decrease the frequency of signs and symptoms. Patients presenting with symptoms of CMD should undergo a comprehensive history and examination. The history should include present illness and time of onset of symptoms, their nature, exacerbating and ameliorating factors, and prior therapy; a complete medical history; and a detailed dental history. The latter should note whether there has been a history of treatment under general anesthesia; trauma to the TMJ or mandible; oral parafunctions such as bruxism, thumb sucking, nail biting, or gum chewing; headaches related to clenching of the teeth; and unusually diligent practice with a musical instrument such as the violin, horn, or reed instrument. In addition, family and social history with emphasis on recent changes and potential sources of emotional stress should be obtained. Clinical examination includes inspection of the head and neck; intraoral examination; palpation of the TMJ and masticatory musculature; auscultation of the TMJ during opening and closing; and observation of mandibular movements in all planes (opening, protrusive, and lateral). Significant deviations from normal mandibular motion, tenderness, clicking or crepitus of the joint, or generalized TMJ pain all suggest the need for further evaluation. Identification and elimination of etiologic factors is of paramount importance in the treatment of CMD. Studies on children and young adults suggest that conservative or reversible types of treatment are most appropriate. Such modalities may include physical or behavioral modification therapy, bite splints, and judicious use of analgesics. The application of irreversible treatment modalities such as bite adjustment (selective grinding of the teeth), orthognathic surgical intervention, and orthodontics to correct CMD is not supported scientifically. Bibliography

Figure 20-72  Delineated ecchymosis with hematoma formation on the mucosa of the upper lip is a common sign associated with underlying fractures, in this case a fracture of the anterior nasal spine of the maxilla.

American Academy of Craniomandibular Disorders: Guidelines for evaluation, diagnosis and management. In McNeil C, editor: Craniomandibular disorders, Chicago, 1990, Quintessence Publishing. American Academy of Pediatric Dentistry: Policies and guidelines, Pediatr Dent 31, 2009. (Special issue.) Bhaskar SN: Oral lesions in infants and newborns, Dent Clin North Am July:421–435, 1966. Christensen RE Jr: Soft tissue lesions of the head and neck. In Sanders B, editor: Pediatric oral and maxillofacial surgery, St. Louis, 1979, Mosby. Long SS: Syndrome of periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA)—what it isn’t. What is it? J Pediatr 135:1–5, 1999.

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Martin B, Armanazi Y, Bouquot J, et al: Dental and gingival disorders. In Bluestone CD, Stool SE, editors: Pediatric otolaryngology, ed 4, Philadelphia, 2002, WB Saunders. McDonald R: Dentistry for the child and adolescent, ed 8, St. Louis, 2004, Mosby. Nazif MM, Ruffalo RC: The interaction between dentistry and otolaryngology, Pediatr Clin North Am 28:977–1010, 1981. Nowak A, Casamassimo P: The handbook of pediatric dentistry, Chicago, 2007, American Academy of Pediatric Dentistry. Palmer CA: Diet and nutrition in oral health, Upper Saddle River, N.J., 2002, Prentice Hall.

Sanders B, et al: Injuries. In Sanders B, editor: Pediatric oral and maxillofacial surgery, St. Louis, 1979, Mosby. Schuit KE, Johnson JT: Infections of the head and neck, Pediatr Clin North Am 28:965–971, 1981. Sonis A, Zaragoza S: Dental health for the pediatrician, Curr Opin Pediatr 13:289–295, 2001. Vanderas AP: Prevalence of craniomandibular dysfunction in children and adolescents: A review, Pediatr Dent 9:312–316, 1987. Walund K, List T, Dworkin SF: Temporomandibular disorders in children and adolescents: Reliability of a questionnaire, clinical examination, and diagnosis, J Orofac Pain 12:42–51, 1998.

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ORTHOPEDICS Vincent F. Deeney  |  Jennifer Arnold  |  Morey S. Moreland  |  W. Timothy Ward  |  Holly W. Davis

Children

with musculoskeletal injuries and afflictions are brought for care because of pain, deformity, or loss of function. Often the clinical challenge lies not so much in recognizing the impaired or injured part, which in most cases is readily accessible to inspection and examination, but in making an accurate diagnosis in order to plan and initiate appropriate treatment. Because of their rapid physical growth and the special properties of their developing bones, children often pose special problems for the clinician. Musculoskeletal problems in children fall into several general categories.

1. Trauma (discussed here and in Chapter 6) 2. Congenital problems—malformations resulting from genetic factors and from exposure to teratogens during the first trimester, as well as deformations stemming from insults later in pregnancy, many of which are associated with anomalies of other organ systems (discussed here and in Chapters 1, 2, and 15) 3. Infections (see Chapter 12) 4. Inflammatory processes such as the collagen vascular diseases, the vasculitides, rheumatoid arthritis, and inflammatory bowel disease (see Chapters 7 and 10) 5. Metabolic diseases (see Chapters 9, 10, and 13) 6. Neoplastic disorders (see Chapter 11) This chapter focuses on primary musculoskeletal problems, and the discussion is divided into eight sections: (1) development of the skeletal system, (2) physical assessment, (3) musculoskeletal trauma, (4) disorders of the neck and spine, (5) disorders of the upper extremity, (6) disorders of the lower extremity, (7) generalized musculoskeletal disorders, and (8) sports medicine.

DEVELOPMENT OF THE SKELETAL SYSTEM The assessment, diagnosis, and management of pediatric orthopedic problems necessitate a clear understanding of the physiology of the growing musculoskeletal system and especially of the unique properties of growing bone. The process of growth begins in utero and continues until the end of puberty. Linear growth occurs as the result of multiplication of chondrocytes in the epiphyses, which align themselves vertically, forming a transitional zone of endochondral ossification in the metaphyses. The shafts of long bones widen, and flat bones enlarge through the deposition and mineralization of osteoid by the periosteum. Hence genetic and congenital disorders that affect connective tissue (and thus the skeleton) tend to cause abnormal growth. Most commonly this results in dwarfism, with varying degrees of deformity. However, in some conditions such as Marfan syndrome, excessive linear

growth occurs, resulting in an abnormally tall stature and unusually long fingers and toes. The terminal arterial loops and sinusoidal veins that form the vascular bed of growing metaphyses have sluggish blood flow, which increases the risk of thrombosis and of the deposition of bacteria during periods of bacteremia. As a result, there is a greater risk of developing hematogenous osteomyelitis in pediatric patients than in adults. Furthermore, the epiphyseal plates, which are incompletely formed in infancy, are a less effective barrier to extension of infection into adjacent joints, and the relatively thin diaphyseal cortices tend to permit rupture outward under the overlying periosteum. Similarly, penetration of vascular channels through the vertebral end plates into the intervertebral disks makes diskitis more likely than vertebral osteomyelitis in early childhood (see Chapter 12). A thorough understanding of musculoskeletal development and of the radiographic findings at differing stages is particularly important in the diagnosis and management of orthopedic injuries. At birth only a few epiphyses have begun to ossify; the remainder are cartilaginous and thus are invisible radiographically. With development, other epiphyses begin to ossify, enlarge, and mature in such an orderly fashion that one can estimate a child’s age from the number and configuration of ossification centers (Figs. 21-1 and 21-2). The epiphyseal plates (physes), which are sites of cartilaginous proliferation and growth, do not begin to ossify and thereby close until puberty (Fig. 21-3). This process starts and ends earlier in girls than in boys. When skeletal injuries involve sites where ossification has not begun or is incomplete, radiographic findings may appear normal or may not reflect the full extent of the injury. This necessitates greater reliance on clinical findings. Magnetic resonance imaging (MRI) can be of assistance in defining unossified or incompletely ossified structures. Before closure of the physis during puberty, the growth plate is actually weaker than nearby ligaments. As a result, injuries that occur near joints are more likely to result in physeal disruption than in ligamentous tearing (i.e., sprains and dislocations are seen less commonly in prepubescent children than in adolescents and adults). Similarly, avulsion fractures at sites where strong muscular attachments join secondary ossification centers are unique to children and adolescents. When there is displacement of an epiphyseal fracture and the fragments are not anatomically reduced, growth disturbances may occur. Because the epiphysis may not be ossified, radiographs often fail to reveal the injury, and for this reason children with injuries at or near joints must be examined with meticulous care so that epiphyseal fractures are not missed. Clinically, pain and swelling may be detected over the epiphyseal plate region and, less notably, over the joint itself. The periosteum of a child is much thicker than that of an adult, strips more easily from the bone, and is rarely disrupted completely when the underlying bone is fractured. Because of 803

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11–14Y 17Y 13–15Y

Y = Years MO = Months M = Male F = Female

14–15Y

13–15Y

Figure 21-1  Ages at onset of ossification. At birth only a few epiphyses have begun to ossify. The remainder are cartilaginous and therefore invisible radiographically. With development, other epiphyses begin to ossify, enlarge, and mature in an orderly fashion, making it possible to estimate a child’s age from the number and configuration of ossification centers. This forms the basis for the use of bone age as part of the evaluation of children with growth disorders. When evaluating the radiographs of injured children, it is of crucial importance to bear in mind that fractures involving nonossified epiphyses are radiographically invisible until healing begins (see Fig. 21-57).

14Y 4–6Y

4MO

1–3MO 1–2Y

11–12Y 5–7Y(M) 3–6Y(F)

12Y(M) 11Y(F)

8–10Y(M) 7–9Y(F)

3–5Y

39 week fetal

Birth

3–4Y

1–2MO(M) 1–6MO(F) 3–6Y

8–10Y

4–9Y

3–18MO 9–12MO

6MO

Hand: Small bones, tubular bones– variable onset

A

Foot: Small bones, tubular bones– variable onset

B

Figure 21-2  Increasing numbers of ossification centers become radiographically visible with age. From left, the hands shown are those of a toddler, a young school-age child, and a young adolescent. Injuries affecting unossified bones or growth centers are invisible radiographically.

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805

20Y

25Y

14–16Y 18Y

16–18Y

20Y 16–18Y 16–17Y

18–21Y

15–18Y

14–17Y

14–17Y

16–19Y

14–17Y

16–19Y

14–17Y

16–20Y 14–20Y

17–19Y

17–19Y

17–18Y

Y = Years

14–21Y

A

B Figure 21-3  Ages at physeal closure.

the immature elements in the rapidly growing skeleton of the child, the bone has more viscoelasticity and can sustain plastic deformation more easily than the adult skeleton. Consequently, a given compressive force that would produce a comminuted fracture in an adult tends to be dissipated in a child in part by the bending that occurs in the more flexible bone of the child. Such a force is thus more likely to result in plastic deformation or to produce an incomplete fracture, such as a torus fracture or a greenstick fracture, in a child. Thus fracture patterns in children often differ from those in adults. Their fractures can be considerably more difficult to detect clinically and radiographically, and because the growing cells in the epiphyseal plate may be injured, growth disturbances may occur. Children do have advantages, however, in that their actively growing bones heal more rapidly and have a remarkable capacity for remodeling. Finally, numerous genetic, metabolic, endocrine, renal, and inflammatory processes can affect not only growth and

ultimate height but also skeletal maturation—in some cases delaying it and in others accelerating it. Comparison of the patient’s actual bone age, as determined by the number of radiographically visible ossification centers, with his or her chronologic age can help in the diagnosis of these underlying disorders.

PHYSICAL ASSESSMENT History Key historical points in the evaluation of problems not resulting from trauma include the following: 1. Age at onset of symptoms 2. Mode of onset 3. Clinical course, including the manner and rate of progression and associated signs and symptoms

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4. Past medical history, with an emphasis on the prenatal and perinatal history in the infant or young child 5. Family history, especially of genetic, metabolic, and musculoskeletal problems This information helps considerably in narrowing the list of differential diagnostic possibilities. When the patient’s problem is the result of trauma, it is important to obtain the following historical points: 1. The time and place of the accident and whether it was witnessed 2. The mechanism of injury, including the degree of force applied and the direction of force, if known (e.g., if a fall, from what height, onto what surface? Was the child running or walking [momentum]? In what position did the child land? Was there any head injury or loss of consciousness?) 3. The child’s behavior since the time of injury (e.g., decreased movement, guarding, refusal to walk or limping, any altered level of consciousness) 4. Complaint of pain (if so, how severe, and can it be localized?) 5. Prior treatment or first aid 6. Past medical history of serious illness and prior injuries 7. Family history of musculoskeletal problems This information helps localize the site or sites of injury and potential injury severity, points to the risk of possible asso­ ciated injuries, gives clues to the possible existence of under­ lying disorders that may predispose to injury, and may occasionally raise a suspicion of abuse.

Physical Examination The orthopedic examination involves a systematic assessment of posture, stance, and gait; the symmetry or asymmetry of paired musculoskeletal structures and their motion; muscle strength and tone; and neurovascular status. In pediatrics, the patient’s developmental level is a major consideration, not only in terms of the interpretation of findings, but also in terms of the manner in which the examination is conducted. Patience and often some degree of creativity are required on the part of the examiner if the patient is very young. Often, much information can be gleaned from an initial period of observation of the child’s demeanor and spontaneous activity. This can be assisted by providing age-appropriate toys for him or her to play with while the history is being taken and by engaging the patient in play (if circumstances permit) before starting the more formal physical examination. This also helps to alleviate anxiety and gain the child’s trust, enhancing his or her cooperation. As in all examinations of infants and children, taking time to establish the child’s trust in the examiner is helpful. After spontaneous activity is observed, the relevant parts of the orthopedic examination are typically done by region. A complete orthopedic examination that assesses each bone, muscle, joint, tendon, and ligament is lengthy, detailed, and rarely indicated. Even in multiple-trauma victims and patients whose symptoms point toward an underlying systemic disorder, each region is screened and a full assessment done only of those regions where local musculoskeletal abnormalities are found. Similarly, in patients with focal injuries or deformities, the examination can generally be focused on the region involved, with the clinician bearing in mind referral patterns for pain and the maxim that all extremities “begin at

the back.” Finally, in performing routine physical examinations on healthy children, after a general screening examination of spontaneous movement, posture, gait, station, and stance, the assessment of the musculoskeletal system is focused on areas at risk for the child’s age (e.g., the hip for dislocation in the neonate, the spine for scoliosis in the preadolescent and adolescent). Regional Musculoskeletal Examination In the regional examination the area of concern is inspected visually for spontaneous movement, guarding, size, swelling, deformity, and the appearance of overlying skin, and the findings are compared with those for its paired structure. After this, the normal side and then the affected side are gently palpated for warmth, induration, and tenderness. Muscle mass, tone, and reflexes on the affected side are compared with those on the normal side, and the presence or absence of spasm is noted. If asymmetry in muscle mass is detected, the circumference is measured bilaterally at a point equidistant from a fixed bony landmark. The child is then asked to move the extremity or is handed objects to get him or her to do so, and active motion is observed. If this appears limited, passive range of motion is tested first on the normal and then on the affected side, taking care not to cause severe pain. Strength is tested against gravity and then against resistance (Table 21-1), being careful to stay within the limits of pain. Then sensation and vascular status are also evaluated. Joints are further inspected to determine whether there is erythema, obliteration of landmarks that may indicate the presence of effusion, evidence of deformity, and position of comfort. Further evaluation to detect joint effusion is done by pressing on one side of a visible joint while feeling for the protrusion of fluid on the other. The joints are palpated to check for evidence of heat and tenderness, range of motion is assessed, and evidence of pain on motion is determined. Assessment of ligamentous stability around joints is discussed under specific sections of the regional examination. However, it is important to remember that in cases of acute trauma, especially when deformity or hemarthrosis is evident on initial assessment, tests of ligamentous stability should be deferred, the extremity splinted, and radiographs obtained to check for possible underlying fracture. Axial Skeleton and Upper Extremity Examination Trunk and Neck.  With the examiner in front and the patient standing, the sternocleidomastoid muscles, the bony prominences of the clavicles, and the respective heights of the acromioclavicular joints, nipples, and anterior iliac crests and sides of the chest wall are inspected for symmetry. The patient is then turned and viewed from behind, and the shoulder and scapular height, the muscle bulk of the trapezius muscles, and the height of the posterior iliac crests and of the depressions over the sacroiliac joints are checked for symmetry. Trapezius strength is determined by having the patient shrug his or her shoulders, first against gravity and then against resistance, as

Table 21-1

Grading of Muscle Strength

Grade

Physical Finding

0/5 1/5 2/5

No movement seen Muscle can move joint with gravity eliminated Muscle can move joint against gravity but not against added resistance Muscle can move joint against slight resistance Muscle can move joint against moderate added resistance Normal strength

3/5 4/5 5/5

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the examiner presses down on the shoulders. The muscles supplying the scapula are tested by having the patient press his or her outstretched arms against a wall. Winging of the scapula during this maneuver is suggestive of weakness of the serratus anterior muscle. The line of the spinous processes of the vertebrae is observed for straightness, and the position of the head over the trunk is noted. Normally the head is aligned over the midline of the sacrum. Next, the sternocleidomastoid and paraspinous muscles of the neck are palpated to assess for bulk, tone, tenderness, and spasm, and the spinous processes of the cervical vertebrae are palpated to assess for tenderness and step-off. In the immobilized trauma patient these observations are made largely with the patient supine on a backboard and then log-rolled onto his or her side. Importantly, in checking for neck injury, the cervical spine can be cleared clinically if the patient is awake and alert and has no complaint of neck pain, no evidence of tenderness or paraspinous muscle spasm, and no extremely painful injury elsewhere. If the patient’s level of consciousness is not normal or there is a major distracting injury, the cervical spine cannot be cleared, even if radiographic findings are normal, because spinal cord injury can be present in the absence of bony abnormalities. Range of neck motion is assessed by having the patient move his or her head. A normal child can touch his or her chin to the chest, extend the neck to look directly above, and

bend laterally to 45 degrees. He or she is also capable of symmetrical lateral rotation when turning the head from side to side. Strength is tested by applying pressure to the forehead while the patient flexes his or her neck and to the occiput as the patient extends, and by applying resistance to the opposite side of the head as the patient bends and rotates laterally. Thoracolumbar Spine.  Viewed from the side, the normal child has a lordotic curve in the cervical area with a bony prominence at C7, a mild thoracic kyphosis, a lumbar lordosis, and a sacral kyphosis. Each patient is checked for the presence, absence, or accentuation of these curves. The midline of the back is inspected for evidence of abnormal pigmentation and the presence of hemangiomas, nevi, hairy tufts, dimples, masses, or defects, which may be associated with underlying bony or neural anomalies (see Chapter 15). Flexion, extension, rotation, and lateral bending of the thoracolumbar spine are primarily motions of the thoracolumbar junction and the lumbar area. Most children can bend forward to touch their toes, bend laterally 20 to 30 degrees (with the pelvis held stable by the examiner’s hands on the iliac crests), and rotate 20 to 30 degrees in either direction. Examination of the back for spinal deformity is assisted by the use of the Adams forward bend test (Fig. 21-4). For this, the examiner stands behind the patient, who is then asked to bend forward with arms extended and the palms of the hands

Figure 21-4  Adams forward bend test. A, Scoliosis can be difficult to detect on observation of the standing patient.  B, With the child bending forward and observed from behind, it is much easier to appreciate the asymmetrical trunk rotation seen in scoliosis. C, Viewing the patient from the side, one can more easily see even subtle degrees of kyphosis and note lack of reversal of normal lordosis.

A

B

C

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

together. The surface of the back in the lumbar and thoracic regions is examined for asymmetrical elevation of the paravertebral spinous area, thus indicating a structural rotation of the spine and the possibility of scoliosis (Fig. 21-4, B). The examiner should also note any evidence of missing spinous processes (step-off) or their deviation from the midline and palpate the paravertebral muscles for spasm and tenderness. Increased kyphosis, especially in the thoracic region, may be detected when viewing the patient from the side (Fig. 21-4, C), as can lack of reversal of the lumbar lordosis, which may indicate muscle spasm or abnormality of the lumbar spine. Leg length inequality may be evaluated during the upright standing portion of this test (see Lower Extremity Examination, later) and, if present, should be corrected with appropriate lifts under the short side in order not to cause a false forward bend test. Any examination of the spine must include a neurologic assessment of strength, tone, reflexes, and sensation. The straight leg raising test (Fig. 21-5) can be helpful in demonstrating nerve root pathology in patients with slipped disks, spinal or paraspinal masses, or inflammatory processes. The test is performed with the patient lying supine on the examining table. The limb to be tested is grasped behind the ankle and elevated passively into hip flexion with the knee fully extended. This maneuver stretches the sciatic nerve as it passes behind the hip joint, and if one of its several roots has been irritated by a protruded disk, mass, or inflammatory process, pain will be felt with only 15 to 30 degrees of hip flexion. Normally the straight leg can be brought to 90 degrees of hip flexion without difficulty. Shoulder.  When examining the shoulder, first the position of the upper limbs is observed, at the same time noting whether there is any swelling, asymmetry of height, or visible landmarks and looking for any difference in spontaneous movement. Prominent landmarks that are easily palpable include the acromion process lying laterally and subcutaneously, the clavicle, the spine of the scapula, the coracoid process, and the bicipital groove. Any displacement or tenderness of these structures should be noted. Swelling of the glenohumeral joint capsule and atrophy of the shoulder muscles are best appreciated by viewing from above with the patient seated and by comparison with the normal side.

Figure 21-6  Carrying angle. The normal relationship of the extended supinated forearm to the upper arm is not a straight line but involves 5 to 10 degrees of lateral or valgus angulation.

Assessing range of motion is important because many shoulder problems are manifested by a loss of normal motion. The shoulder is a ball-and-socket joint with six components of movement. Abduction, a function of the deltoid muscle, is tested by having the patient raise the extended, supinated arm up so that the hand is directly above the shoulder (180-degree abduction). To test adduction, the patient is asked to flex his or her shoulder to 20 to 30 degrees and then draw the upper arm diagonally across his or her body (75 degrees is normal). Flexion is assessed by having him or her raise the extended pronated arm up and forward until it is parallel to the floor; extension is tested by having him or her return the arm to the neutral position and then lift the arm up and backward (45 to 60 degrees is normal). To check rotation, the upper arm is held to the side with the elbow flexed to 90 degrees and the child is asked to turn the forearm toward the body (medial) and then out to the side (lateral) (60 to 90 degrees is normal). Elbow.  In the normal relationship of the extended, supinated forearm to the upper arm, there is 5 to 10 degrees of lateral (valgus) angulation, termed the carrying angle (Fig. 21-6). When this angle is greater than 10 degrees, the deformity is termed cubitus valgus and, when less or reversed, cubitus varus (gunstock deformity). The range of motion of the hinge joint of the elbow has four components: extension, a function of the triceps (normally to 0 degrees of flexion); flexion, a function of the biceps (normally to 145 degrees); supination (normally to 90 degrees); and pronation (80 to 90 degrees). The latter two components are tested by having the patient turn the palm up and down respectively, with the elbow flexed. Because of the proximity of the brachial artery and the median, radial, and ulnar nerves to the elbow joint, injuries of the elbow necessitate a careful neurovascular examination.

Figure 21-5  Straight leg raising test. With the patient supine, the limb to be tested is grasped behind the ankle and elevated into hip flexion with the knee in full extension. If pain is produced well before 90 degrees of flexion is achieved, the test is positive, indicating irritation of a sciatic nerve root.

Wrist and Hand.  During examination of the wrist and hand, one should observe skin color, check capillary refill, and palpate the radial and ulnar pulses to assess circulation. Any swelling or edema should be noted, as well as any abnormal

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posture or position. The presence of intraarticular fluid in the wrist is manifested by swelling and tenderness, especially evident dorsally, and by restriction of wrist motion. Wrist motion has four components: flexion with the hand held down (normally 70 to 80 degrees); extension with the hand held up (normally 70 degrees); and ulnar and radial deviation (normally 25 degrees and 15 to 20 degrees, respectively). Examination of hand function can be particularly challenging in young children because of lack of cooperation and developmental limitations. Observation of the position at rest (normally a loose fist with all the fingers pointing in the same direction and with the same degree of flexion) and of use during play is often helpful. Having the parent perform various hand and finger motions while trying to get the child to imitate these can be helpful in some cases. Handing the child a small object such as a key or a thin piece of paper such as a dollar bill may suffice for assessing opposition of thumb to fingers, which in the older child is tested by having him or her touch the tip of the thumb to the tip of the little finger. Normal ranges of motion in the hand are 90 degrees of flexion and 45 degrees of extension for the metacarpophalangeal joints, full extension and 100 degrees of flexion for the proximal interphalangeal (PIP) joints, and full extension and 90 degrees of flexion for the distal interphalangeal joints. Because the bones of the hand are subcutaneous, displaced fractures and dislocations are readily evident on inspection. Laceration or rupture of the tendons is common because of their superficial location. Those involving flexor tendons result in extensor tendon overpull (Fig. 21-7), with the affected digit lying in greater extension than its neighbors at rest. Conversely, extensor tendon lacerations result in flexor muscle overpull, with the opposite result. Functional testing of the tendons and intrinsic muscles of the hand is generally possible in older children. They can be asked to extend the fingers at the metacarpophalangeal joints and each interphalangeal joint. Function of the flexor digitorum profundus muscle is tested by holding the PIP joint extended while the patient flexes the tip of the finger. To test the superficialis flexor tendon, adjacent distal interphalangeal

Figure 21-7  Extensor tendon overpull. This boy’s palm laceration involved the flexor tendons to his index finger. With his hand at rest, his index finger lies in extension, in contrast to his other fingers, which are partially flexed. (Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Table 21-2

809

Signs of Neural Dysfunction with Injury of the Upper Extremity

Nerve

Sign

Radial

↓ Strength of wrist and finger extensors ↓ Sensation in web space between thumb and index finger, dorsum of hand to proximal interphalangeal joints, and radial aspect of ring finger ↓ Strength of wrist flexion and adduction ↓ Strength of finger spread ↓ Sensation over ulnar aspect of palm and dorsum of hand, little finger, and ulnar aspect of ring finger ↓ Strength of wrist flexion and abduction ↓ Strength of flexion of proximal interphalangeal joints ↓ Strength of opposition of thumb to base of little finger ↓ Sensation over radial aspect of palm, thumb, index, and long fingers ↓ Strength of flexion of the distal interphalangeal joints of the index finger and thumb

Ulnar

Median

Anterior interosseous

joints are held in extension and the patient is asked to flex the finger being tested at the PIP joint. The intrinsic muscles of the hand are evaluated by having the child adduct and abduct the fingers toward and away from the middle finger. Sensation is best tested using two-point discrimination and pinprick in older children and by touch in very young children. Muscle strength in the upper extremity is largely tested during assessment of range of motion of the joints, with and without resistance. Signs of neural dysfunction with injury of the upper extremity are listed in Table 21-2. Lower Extremity Examination Hip.  Examination of the hip begins by assessing gait (see later discussion) and stance, checking the latter to see if the anterior superior and posterior superior iliac spines and the greater trochanters are level. If not, a leg-length discrepancy should be suspected and leg length measured. Total length is measured from the bottom of the anterior superior iliac spine to the medial malleolus of the ankle with the patient supine. If inequality is found, the knees are flexed to 90 degrees with the feet flat on the examination table. If, as the examiner looks from the foot of the examination table, one knee appears higher than the other, the tibias are unequal in length; if one knee is anterior to the other when viewed from the side, the discrepancy involves the femurs. If total leg lengths are equal, the inequality apparent when the patient is standing may be due to pelvic obliquity or flexion contracture of the hip. The latter may also be associated with a compensatory accentuation of lumbar lordosis. The thighs are checked next for symmetry and signs of atrophy. If atrophy is found, circumference should be measured and compared at a fixed point below the greater trochanters. Because the hip lies deep and is surrounded by muscles, direct inspection is impossible and palpation is of limited value (although the femoral triangle, greater trochanter, and posterior aspect should be palpated to check for tenderness). As a result, assessment of the position of comfort (abduction and external rotation are seen with effusion, hemarthrosis, and fracture; see Figs. 21-15, C and 21-91, B), weight bearing, range of motion, and pain on motion are particularly important (for hip examination in the neonate, see Developmental Dislocation of the Hip, later).

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B Figure 21-8  Thomas test. This test of range of hip extension is performed by flexing both hips, then holding one in flexion while the patient is asked to extend the other leg. A, Normally, full extension is achieved. B, Inability to fully extend the hip, seen in this boy with Legg-Calvé-Perthes disease, indicates the presence of a flexion contracture of the hip and constitutes a positive Thomas test.

In evaluating range of motion of the hip, care must be taken to distinguish true hip motion from that occurring in combination with pelvic rotation or trunk flexion. The range of hip flexion is normally about 120 degrees. It is tested with the child lying supine. The hip to be tested is passively flexed while the contralateral hip and pelvis are observed or stabilized by one hand. The limit of flexion is reached when movement of the contralateral pelvis is noted. Alternatively, both hips can be flexed simultaneously to stabilize the pelvis and eliminate truncal flexion. The Thomas test is performed by flexing both hips so that the thighs touch the abdomen. Then one is held in place, thereby eliminating lumbar lordosis and movement of the lumbosacral joint, and the patient is asked to extend the hip to be tested. Normally he or she should be able to extend the hip to 0 degrees of flexion (Fig. 21-8, A). Failure to do this indicates the presence of a hip flexion contracture, which is a positive result on the Thomas test (Fig. 21-8, B). Next, the knee and thigh are held with the hip and knee flexed to 90 degrees and internal and external rotation are tested and recorded in degrees. Abduction and adduction are also checked with the hip flexed to 90 degrees. While the examiner places the thumb and index finger of one hand over the patient’s pelvis, attempting to span the distance between the anterior superior iliac spines, the hip to be tested is abducted and then adducted. The limit is determined by the point at which the pelvis begins to move (normally 45 degrees of abduction and 30 degrees of adduction). Extension is tested with the patient prone by having him or her lift the leg up from the table (normal, 20 to 30 degrees). Internal and external rotation are also tested with the patient prone and the hip and leg in extension. When hip abductor weakness is suspected on the basis of the finding of a gait abnormality, the Trendelenburg test (Fig. 21-9) is performed. This involves having the child stand and asking him or her to lift one leg up. Normally the pelvis should rise slightly on the side of the leg that is lifted. If instead it drops, abductor weakness is present on the opposite side, and the Trendelenburg test is positive.

Knee.  Importantly, knee pain is a common reason for seeking orthopedic care and it is often referred from the hip; thus any patient presenting with knee pain should always be examined for possible limitation of hip motion or pain on motion of the hip. The knee examination begins with the examiner viewing the joint from the front, side, and back, looking for differences in contour, swelling or masses, and changes in overlying skin. From the front, the knee is inspected for valgus (lower leg points away from the midline) or varus (lower leg deviates toward the midline) deformity and for evidence of effusion, manifested by obliteration of the normal depressions around the patella or by generalized swelling. In viewing the knee from its lateral aspect, the examiner looks for incomplete extension resulting from flexion contracture or excess hyperextension (recurvatum deformity), as well as for symmetry of the tibial tuberosities. From the rear, the popliteal fossae are checked for symmetry and evidence of swelling. The thighs are also observed for comparative size and contour. The knees are palpated to assess warmth and check for tenderness along the medial and lateral joint lines, the medial and collateral ligaments, the patella and its supporting ligaments, the femoral and tibial condyles, and the tibial tubercles. Palpation is easier with the knee flexed because the skeletal landmarks are more readily seen and felt, and the muscles, tendons, and ligaments are relaxed in this position. When there is evidence of a marked effusion, landmarks are obscured and the patella is readily ballotable. This is seen with intraarticular hemorrhage, arthritis, and synovitis, and range of motion is usually significantly limited. If landmarks are only mildly obscured (suggestive of a mild joint effusion or fluid collection in the bursae), pressure should be applied over the suprapatellar pouch with the thumb and index finger of one hand, milking down any fluid present while simultaneously pushing the patella up toward the

Figure 21-9  Trendelenburg test. This test is performed to check for weakness of the hip abductors. While lifting his right foot, this patient’s left abductor muscles stabilize his pelvis with a slight rise of the pelvis on the right. If left hip abductor weakness were present, the right pelvis would tilt downward when the right leg was lifted.



Figure 21-10  Test for small knee joint effusions. Moderate pressure is applied over the suprapatellar pouch with the thumb and index finger of one hand, milking any fluid present downward. The other hand simultaneously pushes the patella up toward the femur. When an effusion is present, the patella becomes ballotable and a palpable click is felt as the patella strikes the front of the distal femur.

femoral condyles with the other hand (Fig. 21-10). If fluid is present, the patella is ballotable and a palpable click is noted as the patella strikes the front of the femur. The knee is primarily a hinge joint and is normally capable of 130 to 140 degrees of flexion and 5 degrees of hyperextension. However, it can also rotate approximately 10 degrees internally and externally, and this involves rotation of the tibia on the femur. Flexion is tested with the patient either sitting or lying prone. To test extension, the examiner can have the patient either sit and try to straighten the leg to 0 degrees of flexion or try to lift the straightened leg from the examination table while lying supine. Rotation is assessed by turning the foot medially and then laterally with the knee flexed. With the knees flexed to 80 to 90 degrees, the patellas should face forward when viewed from the front and be located squarely at the ends of the femurs when seen from the side. The apprehension test (Fig. 21-11) is performed to check for a subluxating or dislocating patella. With the patient sitting, the examiner supports the lower leg and holds the knee flexed to 30 degrees. The patella is then gently pushed laterally. Any abnormal amount of lateral displacement, pain, or apprehension in response to this maneuver indicates a positive test.

Figure 21-11  Apprehension test for a subluxating or dislocating patella. With the patient sitting and the knee supported in 30 degrees of flexion, the patella is gently pushed laterally. Any abnormal amount of lateral displacement, pain, or apprehension constitutes a positive test.

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Ligamentous stability of the knee should be assessed in the mediolateral and anteroposterior planes. In patients with acute injuries, especially those involving significant pain and swelling, this should be deferred until radiographs have been obtained to check for associated fractures. The abduction/adduction stress test is used to determine the degree of stability of the medial and lateral collateral ligaments. With the supine patient’s thigh moved to the side of the examination table and the knee flexed to 30 degrees, the examiner holds the distal thigh in one hand while grasping the inside of the lower leg with the other. To test the medial collaterals, the examiner applies valgus stress by pressing medially against the distal thigh with the upper hand while gently abducting the lower leg. To check the lateral collaterals, the examiner applies varus stress by pressing laterally on the inside of the distal thigh while gently adducting the lower leg. Normally the joint line should open no more than 1 cm on either side. Anteroposterior ligamentous stability is provided by the anterior and posterior cruciate ligaments of the knee. They are tested by the anterior and posterior drawer and Lachman tests. The former are performed with the patient supine; the hip and knee flexed to 45 and 90 degrees, respectively; and the foot planted on the examining table, stabilized by the examiner’s thigh or buttock. The examiner then grasps the proximal tibia with his or her fingers behind the knee and the thumbs over the anterior joint line and gently pulls and pushes (Fig. 21-12). In a positive anterior drawer test, the tibia moves forward more than 0.5 to 1 cm, indicating instability of the anterior cruciate ligament. Movement backward more than 0.5 to 1 cm indicates instability of the posterior cruciate ligament. In the Lachman test (Fig. 21-13) for anterior cruciate tears, the knee is flexed to 15 degrees. The examiner grasps the distal femur with one hand and the proximal tibia with the other. The thumb of the lower hand is placed on the joint line, and the femur is pushed backward as the tibia is pulled forward. Abnormal anterior displacement of the tibia on the femur can be seen and felt if instability is present. The amount of excursion is estimated in millimeters, and the end point is recorded as soft or firm. Ankle.  Examination of the ankle begins with inspection for evidence of deformity, swelling, change in color of overlying skin, and abnormal position (especially with weight bearing). Palpation is performed to detect warmth and to localize tenderness. In the neutral position the long axis of the foot should be at 90 degrees to the long axis of the tibia. Normally a child

Figure 21-12  Anterior and posterior drawer tests for cruciate ligament stability. With the patient supine, the hips flexed to 45 degrees, and the knees flexed to 90 degrees, the examiner grasps the proximal tibia with his or her fingers behind the knee and thumbs on the anterior joint line and makes a gentle pull–push motion. Forward movement of more than 0.5 to 1 cm indicates anterior cruciate instability, representing a positive anterior drawer test. Similar posterior motion on pushing indicates posterior cruciate instability, representing a positive posterior drawer test.

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Figure 21-13  Lachman test for anterior cruciate ligament tear. With the knee flexed to 15 degrees, the distal femur is grasped with one hand and the proximal tibia with the other, with the thumb on the joint line. The tibia is moved forward while the femur is pushed backward. Any abnormal displacement of the tibia on the femur indicates anterior cruciate instability and represents a positive test.

can dorsiflex 20 degrees and plantar flex 30 to 50 degrees from the neutral position, as well as invert and evert approximately 5 degrees. Dorsiflexion and plantar flexion can be checked by observing passive and active motion (with and without resistance) but are perhaps most easily tested by having the ambulating child walk on his or her heels and toes, respectively. Similarly, inversion is tested by having him or her walk on the outside of the feet and eversion by having him or her walk on the medial sides. Tests for ligamentous instability can be important after severe ankle sprains. The anterior drawer test is used to assess the stability of the anterior talofibular ligament. With the patient’s legs dangling over the side of the examination table and the foot in a few degrees of plantar flexion, the examiner grasps the anterior aspect of the distal tibia with one hand while holding the calcaneus cupped in the palm of the other. The calcaneus is then drawn anteriorly while the tibia is pushed posteriorly. Normally there should be no movement, but with instability of the anterior talofibular ligament, the talus slides anteriorly. Lateral instability is seen only with major tears of the anterior talofibular and calcaneofibular ligaments, occasionally accompanied by tears of the posterior talofibular ligament, and is tested by inverting the calcaneus with one hand while grasping the distal tibia with the other. When instability is present, the talus gaps and rocks in the ankle mortise. Medial instability is exceptionally rare because of the strength of the fan-shaped deltoid ligament. To test for medial instability, the tibia and calcaneus are held in the same manner as they are in testing lateral instability, but the foot is everted instead. Gross gaping of the ankle mortise is felt when there is a major tear. Gait and Gait Disturbances Between the onset of walking and 3 years of age, children tend to have a wide-based gait and toddlers often hold their arms out to the side to assist balance. By 3 years of age, children achieve a normal smooth and rhythmic heel-to-toe gait, consisting of two main phases: stance and swing. The stance phase begins when the heel strikes the ground, bears all the weight, and progresses to foot flat, midstance, and push-off as weight is transferred from the heel to the metatarsal heads. The swing phase starts with acceleration after push-off and progresses through midswing to deceleration just before heel strike. During the swing phase, as the leg moves forward, so does the opposite arm. Because stance occupies 60% of the time and weight is borne in this phase, most gait disorders are more evident during the stance phase than during the swing phase. Normally the distance between the two heels

(width of the base) is between 5 and 10 cm, the pelvis and trunk shift laterally about 2.5 cm from stance to stance, the center of gravity rises and falls no more than 5 cm, and the pelvis rotates forward about 40 degrees during swing. Gait is best observed by having the patient walk back and forth in a hall or in a room with a mirror at one end. As the patient walks, the examiner focuses first on overall movement and then on the motion of the pelvis, hips, thighs, knees, lower legs, ankles, and feet in succession, both coming and going. In doing so, he or she looks for the pattern of heel-totoe motion, for shortening of the stance phase, for evidence of limitation of joint motion or weakness, and for positional changes of the extremities. Checking the patient’s shoes for signs of abnormal wear is also helpful. Most acute and many chronic disturbances of gait in childhood are caused by pain. Others stem from weakness or spasticity caused by neurologic or muscular disorders, from leg length inequality, or from deformity. Important historical points are the time of onset of the abnormal gait and the circumstances surrounding it; the duration; whether the abnormal gait is constant or intermittent and, if intermittent, the time of day it is most apparent (A.M., juvenile rheumatoid arthritis; P.M., neuromuscular disorders—symptoms becoming more apparent with fatigue); and its relation to activity or exercise including its effect on running or climbing stairs. The examiner should note any associated pain and its location, bearing in mind referral patterns (low back to buttocks and lateral thigh; hip to groin, medial thigh, knee, and sometimes buttock) and attempting to determine whether the pain is constant (suggestive of tumor or infection) or intermittent. Gait Disturbances Stemming from Pain, Limb Length Inequality, or Stiffness An antalgic gait is a limp caused by pain on weight bearing that results in shortening of the stance phase on the affected side. It can be due to pain referred from the back or pain anywhere in the lower extremity. Causes include trauma, pathologic fracture, infection, inflammatory disorders and other sources of arthritis, malignancy, tight shoes, foreign body in the shoe, and a lesion on the sole of the foot. Careful physical examination combined with a complete history usually enables localization of the problem. Patients with leg length inequality manifest depression of the trunk and pelvis during the stance phase on the shorter leg and circumduction of the longer leg during swing. Some children try to compensate for the leg length inequality by toe-walking on the shorter extremity. Patients with limited hip motion compensate by thrusting the pelvis and trunk forward in the swing phase. When knee flexion is limited, children tend to hike up the pelvis on the involved side during the swing phase and circumduct the leg to clear the foot from the floor. A circumduction gait can also be related to a painful condition involving the ankle or a limitation of ankle motion. By circumducting the leg laterally during swing phase, the patient reduces the need for ankle motion. Gait Disturbances Resulting from Weakness or Spasticity Patients with weakness of the hip abductors (gluteus medius muscle) have a Trendelenburg gait. Because they are unable to maintain a level pelvis and linear progression of their center of gravity, their pelvis tilts toward the unsupported side and their shoulder lurches toward the weak side during stance phase to maintain their center of gravity over the foot. Patients with weakness of the gluteus maximus (seen most commonly in children with Duchenne muscular dystrophy) have to hyperextend their trunk and pelvis to maintain their center of gravity posterior to the hip joint (see Chapter 15). Proximal muscle

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weakness may also be demonstrated by observing a child getting up from the floor unassisted. A Gower sign indicates weak hip extensors and abductors, necessitating that the patient use his arms to assist in standing by placing his hands on his anterior thighs and pushing up, progressively moving his hands upward along the thighs until erect posture is achieved (see Chapter 15). Children with weakness of the quadriceps femoris muscle may have a relatively normal gait on level ground but difficulty climbing stairs. Weakness of the dorsiflexors of the foot results in foot drop and a steppage gait. Because the foot hangs down during the swing phase, the patient must lift the knee higher than usual to help the foot clear the floor and the forefoot tends to slap the floor on impact because smooth deceleration of the foot cannot be controlled. When the plantar flexors are weak, the patient is unable to push off at the end of the stance phase and so the heel and forefoot come off the floor at the same time. An equine gait, characterized by toe-walking or a toe-toheel sequence during the stance phase, is seen in children

A

C

with heel cord contracture and limited dorsiflexion. It is usually indicative of an underlying neurologic problem with spasticity. Patients with spastic cerebral palsy who are able to ambulate often manifest a stiff-legged scissors gait, in which one foot crosses over the other during the swing phase. Vestibular or cerebellar dysfunction or generalized weakness tends to result in a wide-based ataxic gait because of abnormal balance. Absence of the normal arm swing with walking is seen in patients with paresis or cerebellar disease. Intoeing and Out-toeing.  The angular difference between the long axis of the foot and the forward line of progression during walking is called the foot progression angle. A minus value is assigned to intoeing, a plus value to out-toeing. The normal range varies from 5 to 10 degrees to 10 to 20 degrees, respectively. The remaining rotational profile of the lower extremities can be examined with the patient in the prone position (Fig. 21-14). The foot axis can be determined by a line marked from the middle of the heel on the plantar surface to the lateral side

B

D

E

813

Figure 21-14  Evaluation of the rotational profile of the lower extremities. A, The foot axis is determined by a line marked from midheel to the lateral aspect of the second toe. Hip excursion is the difference between the angular measure of maximal prone internal rotation (B) and maximal prone external rotation (C). The tibia–fibula axis is determined by comparing the axis of the plane of motion of the knee with the patient prone and knees flexed (D) to the transmalleolar axis (E).

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of the second toe (Fig. 21-14, A). The hip excursion is the difference between the angular measure of the maximal prone internal rotation (Fig. 21-14, B) and that for external rotation (Fig. 21-14, C), and in the young child is usually negative, representing more internal rotation than external rotation. In the adolescent and adult, usually there is more external rotation, or a positive hip excursion angle. Finally, the axis of the tibia and fibula can be determined by looking down the lower extremity in the prone knee-flexed position and comparing the axis of the plane of motion of the knee (Fig. 21-14, D) with the transmalleolar axis (Fig. 21-14, E) estimated by palpating the malleoli. The normal axis is 15 to 25 degrees externally rotated. Femoral anteversion, internal tibial torsion, and metatarsus adductus are common causes of excessive intoeing, or pigeon toe, and femoral eversion and external tibial torsion are common causes of out-toeing, or slew foot (see Disorders of the Lower Extremity, later).

MUSCULOSKELETAL TRAUMA The normal impulsiveness and inquisitiveness of children combined with their lack of caution and love of energetic activities place them at a relatively high risk for accidental injury. The incidence of trauma is further increased by the prevalence of child abuse (see Chapter 6). In fact, beyond infancy, trauma is the leading cause of death in children and adolescents and is a source of significant morbidity. Musculoskeletal injuries are common, whether seen in isolation or as part of multisystem trauma. Although the management of lifethreatening injuries to the airway, circulation, and central nervous system (CNS) must take precedence over treatment of accompanying musculoskeletal injuries in cases of multiple trauma, it must be kept in mind that fractures can result in significant blood loss. This is particularly true of pelvic and femoral fractures. Furthermore, prompt attention must be given to assessment of the status of neurovascular structures distal to obvious fractures because failure to recognize compromise may result in permanent loss of function. Finally, traumatic hip dislocations must be reduced within 6 to 12 hours if the risk of aseptic necrosis and long-term morbidity is to be minimized.

Fractures Diagnosis One of the many variables that complicate the diagnosis of the skeletally injured child is that the child, already in pain, is frightened by his or her recent experience and by the strangeness of the hospital or emergency department setting. Many children are too young to give a firsthand history, and the cooperation of toddlers is often limited. The parents are likely to be anxious as well. A calm, empathetic manner is necessary to allay their fears. Taking a thorough history before making any attempt to perform a physical assessment helps the examiner establish rapport with the patient and the family. This should include questions concerning the type and direction of the injuring force, the position of the involved extremity at the time of the accident, and the events immediately following the injury such as measures taken at the scene of the accident. The presence of underlying disorders and the possibility of contamination of an open wound should be determined as well. Physicians also should be alert to signs suggestive of inflicted injury or child abuse. These include a history in which the mechanism of injury does not fit the type and/or severity of the fracture found, an unusual delay in presentation, and/or radiographic evidence of old healing fractures for which no medical attention was ever sought.

In cases of suspected fracture, splinting, elevation, and topical application of ice may help reduce discomfort and local swelling. Splinting is particularly important for displaced and unstable fractures because it prevents further soft tissue injuries and reduces the risk of fat embolization. When pain is moderate to severe and there are no cardiovascular or CNS contraindications, analgesia should be administered promptly. Contrary to the opinion of many physicians, this does not obscure physical findings. Tenderness is not reduced significantly, swelling remains, and patient cooperation during the examination may be considerably greater. Before beginning the physical examination, it is wise for the examiner to talk with the child to further gain his or her trust. Older infants and toddlers are often more comfortable when allowed to sit on a parent’s lap, and use of puppets or toys can reduce fear and help gain their cooperation. Because comparison of paired extremities is an integral part of orthopedic assessment, it is best to begin by examining the uninjured side and it is wise to defer palpation of the most likely site of the injury on the affected side until last. If young children are highly anxious, it can be useful to instruct the parent in how to perform passive range of motion and palpation. The first step in the physical examination is visual inspection of the injured area. The gross position of the extremity should be noted, and attention given to the presence or absence of deformity, distortion or abnormal angulation, and longitudinal shortening (Fig. 21-15). The overlying skin and soft tissues are examined for evidence of swelling, ecchymoses, abrasions, punctures, and lacerations. Comparison with the opposite extremity and measurement of circumference can be helpful when findings are subtle. The location of open wounds is important in ascertaining whether an underlying fracture is open or closed and in assessing the risk of joint penetration. Small puncture wounds or lacerations overlying bony structures from which a bloody, fatty exudate is oozing usually reflect communication with the medullary cavity of a fractured bone. Similarly, punctures or tears over joints that weep serous or serosanguineous fluid, especially when drainage is increased on moving the joint, must be assumed to communicate with the joint capsule (Fig. 21-16, A). In patients with penetrating joint injuries, radiographs may demonstrate air in the joint, but absence of this does not rule out capsular penetration (Fig. 21-16, B). Probing of open wounds that are highly likely to communicate with a fracture or joint is contraindicated. The wound should be cleaned and covered with a sterile dressing until its extent can be determined under sterile conditions in the operating room. After inspection of the most obviously injured area, palpation and assessment of active and passive motion can be performed. It is crucial to remember that in examining an injured limb the entire extremity must be evaluated in order to detect less obvious associated injuries. Localized swelling and tenderness on palpation are significant findings and should alert the examiner to the high likelihood of an underlying fracture. Pain on motion and limitation of motion signal the need for careful scrutiny as well. Assessment of motion involves observation of spontaneous movement, attempts to get the patient to voluntarily move the involved part through its expected range, and passive movement. Particular attention should be paid to the adjacent proximal and distal joints to avoid missing associated injuries. It can be difficult, however, to determine whether motion is limited because of pain, an associated injury, or fear and lack of cooperation. Clinical findings vary depending on the nature of the fracture. Undisplaced growth plate fractures typically present with mild, localized swelling and point tenderness at the level of the epiphysis (Fig. 21-17). Because ligamentous injury is relatively uncommon in a child, the finding of point tenderness

A

Figure 21-15  Visible abnormalities seen on inspection in children with fractures. A, Distortion and angulation of the distal forearm in a child with fractures of the radius and ulna. B, Swelling and angulation of the proximal thigh resulting from a femur fracture. C, Longitudinal shortening of the thigh in a child with a proximal femur fracture. Note the characteristic externally rotated position of the injured leg. The child was struck by a car, sustaining a fracture of the femoral neck.

C

B

Figure 21-16  A, Penetrating injury of the knee. This child was struck by a stone propelled by the blades of a power lawn mower. Although the laceration appeared to be minor, serosanguineous fluid flowed from it on movement of the knee, suggesting penetration of the joint capsule. This was confirmed on exploration in the operating room. B, Air is seen within the knee joint and in the overlying soft tissues in a child who sustained a deep laceration that penetrated the joint capsule. (A, Courtesy Bruce Watson, MD.)

A

B Figure 21-17  Salter-Harris type I fracture of the distal fibula. A, Slight swelling is present over the lateral malleolus. The degree of swelling can be truly appreciated only by comparing the injured ankle with its normal counterpart, shown in (B). The patient had point tenderness over the affected malleolus. The findings differ from those seen in an ankle sprain, in which tenderness and swelling are greatest over the ligaments inferior to the malleolus (see Fig. 21-65).

A

B

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Figure 21-18  Fracture with overlying soft tissue swelling. This child has a displaced supracondylar fracture of the distal humerus with moderate soft tissue swelling. The degree of swelling becomes evident if the size of the elbow area is compared with the size of the patient’s wrist.

should suffice to prompt treating the injury as a fracture until proven otherwise. Often initial radiographs appear normal and the fracture is confirmed only on follow-up when repeat radiographs disclose evidence of healing. Swelling is typically mild and occasionally imperceptible in cases of torus or buckle fractures and of undisplaced transverse and spiral fractures. Careful palpation should disclose focal tenderness, however. Usually, the patient also experiences some degree of discomfort on motion in some planes or on weight bearing, but it must be remembered that limitation of movement or function can be minimal in patients with such incomplete fractures. In contrast, fractures that completely disrupt the bone and displaced fractures are accompanied by more prominent swelling; more diffuse tenderness; and severe pain, which is markedly increased on motion (Fig. 21-18; see also Fig. 21-15, A and B). Crepitus may also be evident on gentle palpation. In examining children with these findings, manipulation must be kept to a minimum to prevent further injury. Assessment of neurovascular function distal to the injury is essential in evaluating any child with a potential fracture. This includes checking the integrity of pulses and speed of capillary refill, as well as testing sensory and motor function. Strength and sensation should be compared with those of the contralateral extremity. Assessment of two-point discrimination is probably the best test of sensory function. Evidence of neurovascular compromise necessitates urgent, often operative, orthopedic treatment. In addition, this assessment is crucial before and after reduction of displaced fractures to determine whether the procedure itself has impaired function in any way. Persistence of intense pain after fracture reduction should provoke suspicion of ischemia. Supracondylar fractures of the humerus, fractures of the distal femoral shaft and proximal tibia, fracture–dislocations of the elbow and knee, and severely displaced ankle fractures are particularly likely to be associated with neurovascular injury. Even relatively minor fractures of the tibia, forearm bones, metatarsals, and femur can result in compartment syndrome, in which bleeding and edema collection within a closed fascial compartment produce increased pressure that causes neurovascular compromise and muscle ischemia. This should be strongly suspected in patients who complain of intense pain that is aggravated by passive stretching of the muscles. On palpation the area is noted to be swollen and tense, at times even hard. The patient may complain of paresthesias and show pallor and decreased pulses. However, it is important also to be aware of the fact that vascular compromise can be

present in a patient who has normal distal pulses and good peripheral perfusion (see Compartment Syndromes, later). In all cases of suspected extremity fractures the injured part should be properly splinted and elevated, an ice pack applied, and analgesia administered while the patient awaits transport to the radiography suite. However, to obtain high-quality radiographs, obstructing splints must be removed temporarily. This presents no major problem in patients with partial or nondisplaced fractures but can create difficulties in patients with severe displaced fractures. To ensure that manipulation is minimal in these patients, splint removal, positioning for radiographs, and splint reapplication should be supervised by a physician and not done merely at the discretion of the x-ray technician. At a minimum, two radiographs taken at 90-degree angles are obtained, anteroposterior (AP) and lateral views being the most common. Oblique views are helpful in fully disclosing the nature and extent of many fracture patterns, especially when the injury involves the ankle, elbow, hand, or foot. They can also prove useful in detecting subtle spiral fractures and in cases in which the AP and lateral views are normal, yet a fracture is strongly suspected. Radiographs should include the joints immediately proximal and distal to a fractured long bone, because there may be associated bony or soft tissue injuries in these areas as well. Such associated injuries easily can be missed on clinical examination when assessment of motion is limited by pain or when patient cooperation is limited. It is necessary to obtain comparison views of the opposite side, especially when evaluating patients with suspected physeal injuries who may have very subtle radiographic abnormalities. These views can also prove invaluable in detecting cortical disruptions. In some cases of displaced or angulated fractures, potentially complex intraarticular fractures, and vertebral and pelvic fractures, a computed tomography (CT) scan can be useful. A bone scan may be necessary to detect subtle stress fractures. Particular care should be taken in interpreting pediatric radiographs because of the high incidence of subtle or even normal findings in patients with fractures. If the clinical picture strongly suggests a fracture, appropriate treatment should be initiated, even if the radiograph appears normal. Reassessment in 1 to 2 weeks can then clarify the exact nature of the injury. Fracture Patterns Fractures should be described in terms of anatomic location, direction of the fracture line, type of fracture, and degree of angulation and of displacement. When the growth plate is involved, use of the Salter-Harris classification system is recommended. Any specific mechanism of injury results in a readily definable pattern of force application, which tends to produce a typical fracture pattern. Because of this, it is often possible to infer the likely mechanism of injury once the fracture pattern is documented radiographically. If the vector of the direct force is perpendicular to the bone, a transverse fracture is most likely to result, whereas direct force applied at any angle to the bone produces an oblique fracture pattern. Examples of situations resulting in transverse and short oblique fractures include falls in which an extremity strikes the edge of a table, counter, or chair; direct blows with an object such as a stick; and karate chops. These fractures are commonly seen as a result of accidents or fights and in the battered child syndrome. Comminuted fractures generally result from highvelocity, direct forces such as those characteristic of vehicular accidents, falls from heights, or gunshot wounds. Impacted fractures are produced by forces oriented in a direction parallel to the long axis of the bone. Application of indirect force

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Figure 21-20  Transverse fracture of the midportion of the clavicle. The fracture line is perpendicular to the long axis of the bone.

Figure 21-19  Longitudinal fracture. During a motocross competition this teenager missed a jump and was thrown 20 feet in the air, then fell to the pavement below, landing directly on his foot. The force of the impact was transmitted upward through his ankle, resulting in this vertical tibia fracture.

commonly results in spiral, greenstick, or torus fractures in children. A common example of a nondisplaced spiral fracture is the toddler’s fracture (see Fig. 21-43), which results from a fall with a twist. Typically, the child was either running, turned, and then fell; jumped and fell with a twist; or got his or her foot caught and fell while twisting to extricate himself or herself. If a child’s arm or leg is forcibly pulled and twisted, a similar fracture pattern may be seen. Greenstick and torus fractures of the radius or ulna are incurred usually when the child falls on an outstretched arm with the wrist dorsiflexed. Vigorous repetitive shaking while holding a child by the

Table 21-3

Major Feature

Longitudinal

Fracture line is parallel to the axis of a long bone Fracture line is perpendicular to the axis of a long bone Fracture line is at an angle relative to the axis of a bone Fracture line takes a curvilinear course around the axis of a bone Bone ends are crushed together, producing an indistinct fracture line Fracturing forces produce more than two separate fragments Bone bends to the point of plastic deformation without fracturing Fracture is complete except for a portion of the cortex on the compression side of the fracture, which is only plastically deformed Bone buckles and bends rather than breaks

Oblique Spiral Impacted Comminuted Bowing Greenstick

Torus

Physeal Fractures An estimated 15% of all fractures in children involve the physis. Because the adjacent epiphyseal plate is not ossified in the young child and therefore is invisible on a radiograph, the fracture may be mistaken for a minor sprain or missed altogether, only to manifest itself at a later date in the appearance of slowed or failed longitudinal limb growth or in the development of an angular deformity. Even if diagnosed and properly treated, physeal injuries may still result in longitudinal or angular abnormalities. This risk is especially high in children with physeal fractures involving the distal femur,

Patterns of Fractures

Fracture Pattern

Transverse

hands, feet, or chest results in small metaphyseal chip or bucket-handle fractures, a major feature of the shaken-baby syndrome (see Chapter 6). Table 21-3 summarizes the major features of these various fracture patterns, which are illustrated in Figures 21-19 through 21-27. The anatomic location of the fracture line simply refers to that portion of the bone to which the injury force was applied. Table 21-4 presents types of fractures classified by anatomic location. These fractures are illustrated in Figures 21-28 through 21-36. There is some degree of overlap in this method of categorization, however.

Radiographic Appearance Fig. 21-19 Fig. 21-20; and see Fig. 21-28 Fig. 21-21 Fig. 21-22; and see Fig. 21-43 Fig. 21-23 Fig. 21-24 Fig. 21-25 Fig. 21-26; and see Fig. 21-25, B Fig. 21-27; and see Fig. 21-29

Figure 21-21  Oblique fracture of the midportion of the femur. The fracture line is angled relative to the axis of the bone.

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Spiral fracture

Figure 21-22  Spiral fracture of the humerus. The fracture line takes a curvilinear course around the axis of the bone.

proximal tibia, or radial head and neck. Most physeal disruptions occur through the zone of cartilage cell hypertrophy within the physeal plate and thus do not result in permanent damage to the plate. However, a small proportion of disruptions involve the resting or germinal layer of the physis and may disrupt the cells permanently, resulting in eventual deformity despite adequate reduction of the fracture fragments. Because of the potential for long-term morbidity in patients with physeal fractures, great attention has been focused on the classification, diagnosis, treatment, and prognosis of physeal fractures. The Salter-Harris classification scheme is the system most commonly used in North America to classify physeal injuries (Fig. 21-37).

Impacted fracture Growth plate

Figure 21-23  Impacted fracture of the base of the proximal phalanx resulting from axial loading. The fracture line is indistinct, and the fragments appear to be crushed together. The fracture does not actually involve the growth plate but is located just distal to it in the proximal metaphysis.

Salter-Harris Type I A Salter-Harris type I injury consists of a fracture running horizontally through the physis itself, resulting in a variable degree of separation of the epiphysis from the metaphysis. The amount of separation depends on the degree of periosteal disruption. Radiographs are often normal; hence the diagnosis frequently must be made clinically on the basis of the findings of point tenderness and mild soft tissue swelling over the site of an epiphysis (Fig. 21-38; see also Fig. 21-17). This injury usually results from a shearing force. Prognosis is usually favorable. Salter-Harris Type II Also produced by shearing forces, a Salter-Harris type II injury consists of a fracture line running a variable distance through the physis and exiting through the metaphysis on the side opposite the site of fracture initiation. A fragment consisting of the entire epiphysis with an attached metaphyseal fragment is thus produced (Fig. 21-39). Prognosis is generally favorable with adequate reduction. Text continued on page 824

Figure 21-24  Comminuted fracture of the femur secondary to a gunshot wound. Notice the numerous small fragments of bone in the adjacent soft tissues.

Myriad bone fragments

Comminuted fracture

A

Figure 21-25  Plastic deformation. A, While playing soccer, this school-age child fell onto his outstretched arm. On impact another player who fell with him landed on the arm, resulting in this bowing deformity of the forearm. B, On x-ray plastic deformation of both the ulna and radius are seen, along with a greenstick fracture of the radius. This necessitated manipulation under anesthesia to straighten the arm before casting.

B

Figure 21-26  Greenstick fracture of the distal radius. A, In this anteroposterior view of the distal radius, a fracture line is seen that is complete except for a portion of the cortex on the compression side of the fracture. B, The lateral radiograph demonstrates more clearly the disrupted and compressed cortices. This resulted from a fall on the outstretched arm with the wrist in dorsiflexion.

A

B

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Figure 21-27  Torus fracture of the distal radius resulting from a fall on an outstretched arm. A, An anteroposterior radiograph of the wrist shows a minor torus or buckle fracture of the radius. B, The lateral radiograph shows the dorsal location of the deformity. This injury can be expected to completely remodel.

B

A Table 21-4

Classification of Fractures by Anatomic Location

Type

Site

Diaphyseal

Fracture involves the central shaft of a long bone

Metaphyseal

Fracture involves the widened end of a long bone

Epiphyseal

Fracture involves the chondroosseous end of a long bone. Such fractures can also be classified as Salter-Harris fractures Fracture involves the cartilaginous joint surface

Articular Intercondylar

Physeal

Condylar Supracondylar Epicondylar Subcapital

Fracture is located between the condyles of a joint. This is one variant of articular fracture and could also be subclassified as a Salter-Harris fracture Fracture involves the growth center of long bone. These are subclassified according to the Salter-Harris system Fracture traverses the condyle of a joint Fracture line is located just proximal to the condyles of a joint Fracture involves an area juxtaposed to the condylar surface of a joint Fracture is located just below the epiphyseal head of certain bones

Radiographic Appearance Fig. 21-28; and see Figs. 21-21, 21-22, and 21-25 Fig. 21-29; and see Fig. 21-26 and Chapter 6 Fig. 21-30

Fig. 21-31; see also Figs. 21-40 and 21-41 Fig. 21-31, A

Fig. 21-32

Fig. 21-33 Fig. 21-34

Figure 21-28  Diaphyseal fracture. A transverse fracture line crosses the diaphyseal region of the femur. A moderate amount of overlap exists at the fracture site.

Fig. 21-35 Fig. 21-36

Figure 21-29  Metaphyseal fracture. This lateral radiograph of the wrist shows a dorsal buckle fracture of the distal radial metaphysis. This fracture resulted from a fall on the outstretched arm with the wrist dorsiflexed and is a common injury in children.

Metaphyseal buckle fracture

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Epiphyseal fracture

Figure 21-30  Epiphyseal fracture. A fracture involving the medial aspect of the epiphysis of the distal tibia is seen in this anteroposterior radiograph of the ankle in a 4-yearold girl. A slight step-off is present at the articular surface. This could also be classified as a Salter-Harris type III fracture.

Articular fracture Medial femoral condyle Lateral femoral condyle

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Figure 21-31  Articular fractures. A, This anteroposterior view of the knee demonstrates intraarticular extension of a fracture line that exits at the junction of the medial and lateral femoral condyles. The condyles are separated by only a few millimeters. This can also be termed an intercondylar fracture. B, On coming down from a rebound, a 14-year-old basketball player landed with a twist with his knee in extension. The lateral radiograph demonstrates intraarticular extension of a fracture line that starts at the tibial tubercle and exits in the middle of the knee joint. C, On computed tomography scan the degree of intraarticular displacement of the fracture is better appreciated.

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Lateral aspect of physeal plate Physeal fracture Medial aspect of physeal plate

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Figure 21-32  Physeal fractures. A, A fracture of the lateral aspect of the tibial epiphysis through the lateral aspect of the physeal plate is seen in this anteroposterior view of the ankle of a 13-year-old boy. Also called a Tillaux fracture, this pattern is seen in adolescents in whom the medial aspect of the distal tibial physis has closed but not the lateral aspect. It can also be classified as a Salter-Harris type III fracture. B, A 7-year-old restrained backseat passenger involved in a head-on collision motor vehicle accident suffered a direct impact to the front of his lower leg due to violent displacement of the front seat. This resulted in shearing of the proximal tibial epiphysis from the metaphysis. The lateral view of the knee demonstrates complete separation of the epiphysis from most of the metaphysis. This degree of posterior displacement of the metaphysis can be associated with compression of the popliteal artery. This can also be classified as a Salter-Harris type II fracture because a small metaphyseal fragment remains attached to the epiphysis.

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Condylar fracture

Figure 21-33  Condylar fractures. This anteroposterior radiograph of the elbow shows a fracture of the lateral condyle of the distal humerus. The condyle is displaced proximally and radially. The fragment is always larger than it appears on a radiograph because of the large amount of unossified cartilage present in the distal humerus.

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Figure 21-34  Supracondylar humerus fractures. These injuries are typically the result of a fall backward onto an outstretched arm with the elbow in hyperextension. This transmits the force of the impact to the distal humerus, driving the distal fragment posteriorly. Most require surgery to realign, reduce, and stabilize the fracture. A, This 8-yearold fell backward off a swing, landing on his hand with his elbow extended. The anteroposterior radiograph shows the fracture line crossing through the olecranon fossa in the supracondylar region of the distal humerus. Although there is marked soft tissue swelling, degree of displacement appears mild. B, In the lateral view moderate posterior displacement of the distal fragment is evident. There is also a positive fat pad sign. C, In another boy, after a more severe backward fall, the anteroposterior radiograph shows the distal fragment displaced radially, and in the lateral view (D), significant posterior displacement is evident. E and F, In this case an 8-year-old fell backward from a barn window onto his extended arm. This resulted in a severely displaced (type III) supracondylar fracture with associated injury to the brachial artery and vascular insufficiency of the forearm and hand, manifest by a cool hand and absent pulses. The distal fragment is displaced posterolaterally. In such cases the brachial artery may be placed on “stretch” over the proximal fragment or may be entrapped between fragments. This is a true surgical emergency requiring immediate surgery to reduce the fracture and restore distal blood flow. G, This boy has cubitus valgus deformity of his left elbow as a result of incorrect healing of a supracondylar fracture. H, This was corrected by a distal humerus osteotomy, restoring normal contour to the elbow.

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Figure 21-36  Subcapital fracture. This anteroposterior radiograph of the pelvis shows a displaced subcapital fracture of the left femur. This particular injury may be seen acutely as the result of significant trauma or may develop slowly as a result of gradual slipping at the physeal level.

Figure 21-35  Epicondylar fracture. This 10-year-old tripped while playing soccer and fell onto his arm with a valgus strain on the elbow. The anteroposterior radiograph shows a moderately displaced medial epicondylar fracture. These injuries are sometimes associated with dislocation of the elbow, in which case there is marked swelling of the entire elbow.

Salter-Harris Type III Intraarticular shearing forces can produce a fracture line running from the articular surface through the epiphysis and then exiting through a portion of the physis. This creates a separate epiphyseal fragment with no connection to the metaphysis (Fig. 21-40; see also Figs. 21-30 and 21-32, A). Prognosis may be quite poor. Accurate anatomic reduction is required to achieve the best possible outcome. Salter-Harris Type IV In this fracture the fracture line starts at the articular surface, runs through the epiphysis across the physis, and exits the metaphysis. A single fragment consisting of both the epiphysis

Type I

Fracture through physis

Physis

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Fracture through physis and metaphysis Fracture line

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Fracture through epiphysis and physis

and attached metaphysis is thus created (Fig. 21-41). Like the Salter-Harris type III fracture, the injury results from the application of a shearing force. Prognosis may be poor despite seemingly good anatomic restoration of the fracture fragments. Open reduction and internal fixation are virtually always necessary. Salter-Harris type III and type IV fractures also can be classified as intraarticular fractures. Salter-Harris Type V A Salter-Harris type V fracture is the product of a crushing injury to the physis without physeal fracture or displacement. Radiographic diagnosis is virtually impossible to make at the time of injury; hence this fracture must be diagnosed on clinical grounds. Distinction between Salter-Harris type I and Salter-Harris type V fractures is often possible only when a subsequent growth abnormality has been appreciated. Prognosis is quite poor for normal growth (Fig. 21-42). Fracture Treatment Principles The healing and remodeling capacity of the growing bones of a child is considerably greater than that of an adult; the younger the child and the closer the fracture to the epiphysis, the greater is this capacity for regeneration. As a result, healing is rapid, necessitating a shorter period of immobilization; nonunion is rare. Furthermore, in planning fracture

Type IV

Fracture through epiphysis, physis, and metaphysis (with or without displacement)

Type V

Compression injury to physis without fracture

Figure 21-37  Salter-Harris classification of physeal injuries.



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Figure 21-38  Salter-Harris type I injury. Close inspection shows slight widening of the distal humeral epiphysis (right, arrow). Clinically, the patient had pain, tenderness, and decreased range of motion of the elbow. (Courtesy Jocelyn Ledesma Medina, MD.)

reductions, the remodeling capability and the likely addition to bone length as a result of overgrowth must be considered. For example, in managing a toddler with a femur fracture that is displaced in the plane of motion of the adjacent joint, the bone ends must overlap to account for overgrowth and a degree of angulation can be accepted because this will ultimately be corrected by remodeling. The amount of angulation and the degree of overlap of fracture fragments that can be accepted are difficult to state in numeric terms. Acceptable position is determined in part by the child’s age, the nature and position of the fracture, the bone involved, the appearance and condition of the adjacent soft tissues, and the presence or absence of other systemic injuries. Remodeling has its limitations, however. Rotational deformities and angular deformities that are not in the axis of adjacent joint motion are not effectively remodeled. Thus these must be corrected at the time of initial fracture reduction.

Figure 21-39  Salter-Harris type II injury. On this lateral radiograph of the thumb, the fracture is seen to involve the proximal phalanx. The fracture line runs through the physis and exits through the metaphysis on the side opposite the site of fracture initiation. A fragment consisting of the entire epiphysis with the attached meta­ physeal fragment is produced.

Salter-Harris type III fracture Epiphyseal fragment

Figure 21-40  Salter-Harris type III injury. Comparison view of both ankles reveals a fracture involving the lateral aspect of the right distal tibial epiphysis. This configuration creates a separate fragment without any connection to the metaphysis.

Nondisplaced fractures are simply casted or splinted. Because of the relative rarity of ligamentous injuries before epiphyseal closure, patients with an appropriate clinical history and point tenderness over an epiphysis are presumed to have a fracture and should be treated accordingly, even if radiographs are normal. Most displaced fractures not involving the physis can be treated by closed reduction and casting. As a general rule, open reduction and internal fixation are usually reserved for the management of Salter-Harris type III and type IV fractures that have any degree of displacement; for certain open fractures; and for fractures associated with continued neurovascular compromise. Depending on the time of presentation, degree of displacement, and severity of soft tissue swelling, reduction or casting may have to be deferred pending application of traction and subsidence of edema. The importance of adequate analgesia and sedation before the performance of closed-reduction procedures warrants emphasis. Too often reduction is performed without the benefit of appropriate analgesia and justified by the rationale that “it will only hurt for a minute.” This reasoning is callous because that excruciating “minute” may seem an eternity to the child. After reduction and/or immobilization in a cast or splint, pain should be markedly alleviated, although some analgesia is likely to be necessary for a day or two. Persistence or recurrence of considerable discomfort signifies a complication and warrants prompt reevaluation. Care must be taken in describing the nature of the injury and its prognosis and in explaining the rationale for proposed treatment measures to the parents. A simpler explanation in terms geared to his or her developmental level should be given to the child. Written instructions regarding home care measures, necessary parent observations, and worrisome signs that signal the need for prompt reevaluation are invaluable.

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Figure 21-41  Salter-Harris type IV injury. This patient incurred a fracture of the distal phalanx of the index finger. The fracture line starts at the articular surface, runs through the epiphysis across the physis, and exits through the metaphysis. A single fragment consisting of the epiphysis and the attached metaphysis is thus created. Metaphysis Physis Epiphyseal/ metaphyseal fragment Epiphysis

Special Cases Clavicular Fractures Fractures of the clavicle are common. They are caused by lateral compression forces (as can occur in the process of delivery of the newborn or in falls onto the shoulder), by transmission of forces through the glenohumeral joint in a fall to the side on an outstretched arm, or occasionally by a direct blow or impact on the clavicle itself. Most involve the midshaft or distal clavicle. Greenstick fractures are more common in infants and toddlers, whereas through-and-through fractures are more typical of older children and adolescents (see Fig. 21-20). Severe displacement and angulation are usually prevented by the thick periosteum that envelops the clavicle. Clinically, the child complains of pain in the shoulder, is noted to avoid moving the arm on the involved side, and often splints it by holding the arm close against the chest. Tenderness and mild swelling are evident on palpation of the fracture site. Complications are rare, and treatment consists of the application of a padded figure-of-eight splint for 2 to 3 weeks for purposes of immobilization and to prevent foreshortening of the clavicle on healing. Older children may be more comfortable with the addition of a sling for the first few days.

Slings are not advisable for toddlers because they need to be able to hold both arms out when walking in order to maintain balance. Forewarning parents that a hard bump will appear as the fracture heals and that this is due to callus formation is advisable because the clavicle’s superficial location makes the site of callus formation prominent. Medial clavicular fractures are rare and are caused by highimpact forces and often are associated with injuries of mediastinal structures. Thus, they warrant meticulous evaluation including chest CT and often angiography. Fractures involving the distal tip of the clavicle in infants (beyond the neonatal period) and toddlers are likely to be the result of abuse (see Chapter 6). Toddler’s Fracture One of the most common orthopedic injuries seen in children between the ages of 1 and 5 years is the toddler’s fracture. The child usually has a sudden onset of refusal to bear weight on one leg or of an antalgic limp. Typically this develops after a fall with a twist, to which the unsteady toddler is unusually prone. The child may have gotten his or her foot caught and fallen while trying to extricate himself or herself, may have

Obliterated physeal plate

Figure 21-42  Salter-Harris type V injury. This anteroposterior radiograph of the ankle taken several weeks after a crush injury sustained in an automobile accident reveals obliteration of the distal tibial physeal plate. As is often the case, original radiographs taken at the time of injury looked normal. This fracture must be suspected on clinical grounds, and the patient treated and monitored accordingly.



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palpation or introduce puppets and palpate using the puppet’s hands. Treatment consists of either long- or short-leg casting for approximately 4 weeks. Infection must be included in the differential diagnosis of the limping child in this 1- to 5-year age group but usually can be ruled out by lack of fever, absence of local erythema, and normal blood values. If there is no clear history of a fall, only a mild limp, no evidence of localized tenderness, and radiographs are normal, it may be best to defer treatment and observe the child closely.

Figure 21-43  Toddler’s fracture. This spiral fracture of the distal tibia was the result of a fall with a twist. The fracture was invisible when the child was seen initially but is evident along with subperiosteal new bone formation on this follow-up film taken 2 weeks later.

fallen while running and making a sudden change of direction, or fallen with a twist on jumping. Not uncommonly the actual fall is unwitnessed, and the parents are unsure about the nature of the accident. The injury results in a spiral or short oblique fracture of the distal tibia or the junction of the mid- and distal tibia (Fig. 21-43). Because the thick periosteum tends to be only partially disrupted, soft tissue swelling is often minimal and tenderness may be subtle. Furthermore, many of these fractures are radiographically invisible or so subtle as to be difficult to detect, although some degree of soft tissue swelling may be evident on the film. In some cases an oblique view may be revealing. Without radiographic evidence of a fracture, the physician must rely on the examination findings to make a clinical diagnosis. It is generally best to allow the child to remain seated in the parent’s lap during the examination. This helps calm the child and ensures a more subdued response to palpation of the uninvolved areas. Attention should first be turned to the normal extremity. The ankle, knee, and hip should be placed through their range of motion. Next, the entire foot, tibia, fibula, and femur should be palpated. The child will cry if upset, but nothing about the examination should otherwise exacerbate the child’s baseline irritability. Attention is then directed to the involved extremity, and a similar examination is performed. Palpation over the fracture site usually will be revealed either by a withdrawal reaction or, more commonly, by an increase from baseline irritability, usually manifested by a change in the child’s facial expression and in the pattern of crying. In suspected cases in which it is difficult to determine whether tenderness is present, a gentle passive twist applied to the tibia may elicit pain. Localized bone tenderness or pain on passive twisting in this setting is clinical proof of a fracture, even if radiographs are normal. In attempting to assess frightened and highly uncooperative toddlers, it is best to give them time to calm down and then either have the parent perform

Fractures Involving the Elbow Supracondylar, condylar, intercondylar, and epicondylar humerus fractures and proximal radius and ulna fractures all involve the elbow, and the major mechanism is a fall onto the arm with the elbow in hyperextension. In a young infant, a fracture through the cartilaginous portion of the distal humerus at the level of the condyles is known as a transcondylar fracture. Because of the lack of ossification, these are difficult to diagnose on routine x-rays. This may necessitate an MRI study or arthrogram to confirm the diagnosis in an infant with a swollen elbow. Given the force necessary to cause these fractures, when they are seen in an infant who is not yet standing and walking, inflicted trauma must be suspected (Fig. 21-44). Supracondylar fractures account for about 50% of elbow injuries and usually result from a fall backward onto an outstretched hyperextended arm, which typically results in some degree of posterior displacement of the distal humeral fragment (see Fig. 21-34). A grading system, developed by Gartland and useful in describing severity of injury, includes the following: type 1, nondisplaced; type 2, partial displacement with intact posterior cortex; and type 3, displaced with complete disruption of the posterior cortex. When due to abuse, the mechanism is usually a grab and yank into hyperextension (see Chapter 6). More rarely, a direct blow to the posterior aspect of the distal humerus is the cause, in which case the distal fragment is angulated anteriorly. Pain, swelling, and tenderness are most prominent over the posterior aspect of the distal humerus. A significant risk of associated neurovascular injury exists in patients with such fractures. Lateral condylar fractures are in part interarticular (see Fig. 21-33). Typically they result from a fall onto an extended and abducted arm. Swelling and tenderness are prominent over the lateral aspect of the elbow. These fractures are generally unstable and often require pinning to ensure optimal reduction. Medial epicondylar fractures stem from falls in which the elbow is hyperextended and abducted from the body, subjecting it to a valgus stress (see Fig. 21-35). They are also commonly seen in association with elbow dislocations. These children have swelling and tenderness centered over the medial aspect of the elbow. Radial head and neck fractures are usually the result of a fall onto an outstretched, supinated arm (Fig. 21-45). Local swelling and tenderness are centered over the proximal radius, although pain is often referred to the wrist. Because they often are accompanied by other fractures, care should be taken to search for associated injuries. Radiographic findings in patients with fractures about the elbow can be subtle, and oblique and comparison views may be necessary to reveal them. Key signs suggestive of a fracture in the absence of fracture lines are the posterior fat pad sign and displacement of the anterior humeral line. The fat pad sign consists of the upward and outward displacement of the posterior fat pad of the distal humerus (Fig. 21-46, A and B; and see Fig. 21-34, B), which is normally invisible. The finding of a fat pad indicates the presence of a hemarthrosis, and it can be seen in patients with fractures involving the distal

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Figure 21-44  Inflicted elbow fractures. This 10-month-old was brought in with a history of a minor fall and decreased use of his arm. A, However, radiographs revealed displaced transverse fractures of both the distal humerus and proximal ulna along with marked soft tissue swelling. These findings were incompatible with the reported mechanism of injury and instead were the result of grabbing the arm and yanking the elbow into hyperextension with severe force. B, Follow-up films 1 month later show prolific subperiosteal new bone formation.

humerus, proximal radius, or proximal ulna. The anterior humeral line is a line drawn through the anterior cortex of the humerus and normally intersects the middle third of the capitellum. As just noted, hyperextension injuries of the distal humerus resulting in fractures typically displace the distal humeral fragment posteriorly. As a result, the anterior humeral line intersects the anterior third of the capitellum if displacement is slight or misses it entirely if displacement or angulation is marked (Fig. 21-46, B).

Figure 21-45  Radial neck fracture. When this 4-year-old boy fell off his bike, the position of his arm on impact resulted in transmission of a valgus force across the elbow joint, resulting in this impaction fracture of the radial neck. Radial neck fractures may require reduction to restore normal supination and pronation of the forearm.

Hand and Finger Fractures Although a complete discussion of the examination of the hand and hand injuries is beyond the scope of this chapter, several key points bear emphasis, as appropriate assessment and management are essential if long-term dysfunction is to be prevented (see Figs. 21-87 and 21-88). Phalangeal Fractures.  The most common mechanism of injury producing phalangeal fractures in young children is a crush injury caused by getting their fingers caught in a door or by the weight of a heavy object falling on them. Crush injuries continue to be common in older children and adolescents, but contact sports and fistfights assume an increasing causative role in this age group. Meticulous attention must be paid to the assessment of neurovascular and tendon function to detect subtle abnormalities that may reflect significant injury with the potential for long-term complications. This can be difficult in young children. However, much information can be gained from observing the position of the hands at rest and during spontaneous movement, as well as by watching motion as the parents hand objects to the child. Complete phalangeal fractures typically angulate as a result of the action of the intrinsic muscles of the hand. Any fracture associated with shortening, significant angulation (Fig. 21-47), or rotational deformity and any intraarticular fracture must be appropriately reduced. Shortening and rotation are best detected by comparison of the injured hand with its normal opposite. Comparison of the planes of the fingernails of both hands with the forearms supinated and the fingers partially flexed is particularly useful in detecting rotational abnormalities (Fig. 21-48). Determination of the degree of angulation and identification of intraarticular fractures are best done radiographically. X-ray findings can be subtle, necessitating careful comparison with radiographs of the normal hand. Obtaining oblique, as well as AP and lateral views, is also important. Chip fractures at the base of the middle or distal phalanges may be associated with avulsion of the flexor or extensor tendons, which may necessitate surgical repair. Clinically, an extensor tendon injury may be manifested by flexor tendon overpull (Fig. 21-49), and conversely, flexor tendon injuries may result in extensor overpull (see Fig. 21-7).

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Figure 21-46  A, Posterior fat pad sign. Although no clear fracture line is evident in this patient with a supracondylar fracture, the posterior fat pad is readily visible, being displaced upward and outward from the posterior aspect of the distal humerus. The finding indicates the presence of a joint effusion, which after trauma is blood, and in about 70% of cases with no visible fracture line, an occult fracture is present. B, Anterior humeral line. A line drawn through the anterior cortex of the humerus in another patient with a positive fat pad intersects the anterior third of the capitellum, indicating posterior displacement of the distal humeral fragment. C, Normal elbow for comparison. (B, Courtesy Richard B. Towbin, MD, Children’s Hospital of Philadelphia, Philadelphia, Pa.)

Figure 21-47  Angulated phalanx fracture. Significant angular deformity is seen in this impaction fracture of the proximal phalanx of the thumb. Such fractures require careful reduction to prevent permanent disability.

Figure 21-48  Rotational deformity resulting from a hand injury. With rotational deformity the plane of the nail of the involved finger is seen to deviate from its normal orientation. (Courtesy Neil Jones, MD, University of California, Los Angeles, Los Angeles, Calif.)

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B Figure 21-49  Distal phalanx fracture with extensor tendon injury. A, Another player’s shoulder landed on this boy’s finger. The finger was swollen and painful and maximally tender at the base of the distal phalanx, and the patient was unable to extend the distal interphalangeal joint. B, Radiograph revealed separation of the epiphysis at the base of the distal phalanx.

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Figure 21-50  Crush injury of the distal phalanx. This child’s finger was slammed in a car door. He incurred a crush fracture of the distal phalanx, partial avulsion of the nail, and a nail bed laceration. By definition, this is an open fracture. (Courtesy Neil Jones, MD, University of California, Los Angeles, Los Angeles, Calif.)

Crush injuries of the distal phalanges associated with partial or complete nail avulsions often result in open fractures with laceration of the nail bed (Fig. 21-50). These require careful cleansing, debridement, nail bed repair, and antibiotic prophylaxis. The volar plate is a cartilaginous plate located at the base of the middle phalanx of each finger. Intraarticular fractures involving the PIP joint may fracture or tear this structure as well. The typical mechanism of injury is usually a blow to the end of the finger in hyperextension. Often a chip of bone avulsed from the middle phalanx is seen radiographically. Clinically, pain and swelling are especially marked over the volar aspect of the PIP joint. A hyperextension deformity of the involved PIP joint may be seen when the fingers are extended, or pain or locking may be noted on attempted flexion. Pain is exacerbated on passive hyperextension and reduced on passive flexion. Volar plate injuries may also accompany dislocation of the PIP joint (see Ligamentous Injuries, later).

caught in plantar flexion can produce transverse fractures (Fig. 21-52), and injuries of the foot with the ankle inverted and the foot in plantar flexion can avulse the tuberosity from the base of the fifth metatarsal. Mild, localized swelling and point tenderness are noted over the site of a metatarsal fracture; weight bearing is painful, if not impossible. A short-leg cast provides maximal relief. This must be distinguished from the normal finding of a secondary ossification center, termed the os vesalianum, at the base of the fifth metatarsal. The edges of the latter are smooth, rounded, and sclerotic (Fig. 21-53). Adolescents involved in long-distance running or walking may incur stress fractures of the shafts of the second and third metatarsals, which are the site of maximal stress and weight application during the push-off phase of walking and running. Pain often increases insidiously and tends to be poorly localized. Swelling may be imperceptible. These are often microfractures and may be radiographically invisible until healing becomes detectable 3 to 4 weeks after onset. Earlier detection is possible with bone scans. Lap Belt Fractures Increased awareness of the importance of using seat belts to prevent serious multiple trauma in auto accidents and adherence to recommendations to place children in the back seat of the car have resulted in an increase in the incidence of lap belt fractures in children. In a head-on collision, the head and torso of a child wearing only a lap belt are thrown forward, resulting in hyperflexion of the lumbar spine over the fulcrum of the lap belt and often causing a flexion/distraction injury. This may produce a compression fracture of a lumbar vertebra or, more likely, a shear fracture through the body of the vertebra, as well as the pedicle and spinous process. This is best seen on a lateral radiograph of the lumbar spine (Fig. 21-54). An AP view of the spine may show lateral displacement of a portion of the involved vertebral body. Because the fulcrum of the injury is anterior where the lap belt contacts the anterior abdominal wall, this injury produces a characteristic rectangular bruise and abrasion over the lower abdomen. Associated intraabdominal injury, especially a ruptured viscus, is common, and the resultant abdominal pain may overshadow that of the

Metacarpal Fractures.  The boxer’s fracture, an impacted fracture of the neck of the fifth and often the fourth metacarpal, is among the most common of these injuries (Fig. 21-51). It occurs as a result of direct impact with a partially clenched fist (typically resulting from punching another person or a wall) and is most commonly seen in aggressive adolescents. It can also result from a fall onto a clenched fist. Clinically, depression of the involved knuckle or knuckles may be noted, along with more proximal swelling and discoloration. The involved metacarpals may also appear shortened. An associated rotational deformity, if present, is manifested by rotation of the nails of the corresponding fingers (see Fig. 21-48). If the injury stems from punching another person in the mouth, care must be taken to check for overlying breaks in the skin caused by the opponent’s teeth. These are infection-prone wounds and may communicate with metacarpophalangeal joints. Radiographically, volar angulation of the distal segment is typically found. If this exceeds 15 to 20 degrees or a rotational deformity is present, the patient should be referred to an orthopedist or hand surgeon for reduction. Nondisplaced, minimally angulated fractures can be treated with an ulnar gutter splint. Metatarsal Fractures Most metatarsal fractures are the result of a heavy object dropping onto the foot and thus are crush injuries. Falls in which the patient twists the forefoot or in which the forefoot is

Figure 21-51  Boxer’s fracture. This adolescent presented with pain and swelling of the lateral aspect of his right hand after punching a wall in a fit of temper. Radiographically he has typical boxer’s fractures of the necks of the fourth and fifth metacarpals with volar displacement of the distal fragments.

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Figure 21-53  Os vesalianum. Many children have a secondary ossification center at the base of the fifth metatarsal. This can be distinguished from a fracture by the fact that its edges are smooth, rounded, and sclerotic. (Courtesy Jocelyn Ledesma Medina, MD.)

Pelvic Avulsion Fractures

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Pelvic avulsion fractures are a phenomenon unique to adolescents, with a peak occurrence between 13 and 14 years of age in girls and 15 and 17 years of age in boys. This stems from the fact that the secondary centers of ossification in these young people have not yet fused to the pelvis. These fractures are typically seen in adolescents who are in top physical condition and involved in competitive sports, especially track and field (e.g., sprinting and jumping), soccer, and football. The incidence of these fractures is increasing with the rising participation of adolescents in competitive sports. Most result from a sudden, violent muscular contraction while the ipsilateral extremity is held in a static position or when a muscle is suddenly lengthened during isometric contraction. As the muscle power exceeds the strength of the tendinous unit, it is

D Figure 21-52  Transverse metatarsal fractures. A, This adolescent fell forward with her forefoot twisted under her. Swelling over the proximal portion of the fifth metatarsal was prominent. B and C, Anteroposterior and lateral radiographs show a transverse fracture of the proximal fifth metatarsal. D, This boy caught his left foot on steps and fell with his forefoot in plantar flexion, thereby incurring a transverse fracture of the distal portion of his second metatarsal.

vertebral injury. Hence whenever a lap belt bruise is seen during the physical examination, great care should be taken in palpating the back for localized tenderness or spasm, and immobilization of the torso and lower back should be maintained until CT scan of the lumbar spine is obtained to confirm the presence or absence of fracture and to determine whether or not a fracture, when present, is stable or unstable. Fortunately, increased use of three-point belts in back seats is reducing the frequency of this injury.

Figure 21-54  Lap belt fracture. This flexion/distraction injury occurred through the body of the L4 vertebra when the child’s body hyperflexed over a lap belt in a head-on automobile collision.

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B Figure 21-55  Pelvic avulsion fractures. A, Ischial tuberosity avulsion fracture. This 14-year-old football player sprinting for a touchdown fell on his stomach and experienced sharp left hip pain. He could not bear weight after the incident and was found to have tenderness over the left buttock and pain with abduction and flexion of the left hip. The avulsed fragment is best seen on this frog-leg view. B, Anterior inferior iliac spine avulsion fracture. While running in gym class, this 15-year-old boy experienced the sudden onset of left hip pain and difficulty walking. He had point tenderness over the anterior inferior iliac spine and full range of hip motion but experienced pain on flexion and internal rotation. If compared with the right, the avulsed apophysis is evident. C, Another 15-year-old boy, who developed sudden onset of right hip pain and inability to bear weight while kicking a soccer ball, has a large avulsion fracture of the anterior superior iliac spine (arrows). (A and B, Courtesy Janet Kinnane, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

torn from the apophysis or secondary ossification center. Avulsion fractures of the ischial tuberosity are the most common. They tend to occur during sprinting and are due to the sudden, powerful contraction of the hamstring muscles when the hip is flexed and the knee extended (Fig. 21-55, A). Avulsions of the anterior inferior and anterior superior iliac spines (see Fig. 21-55, B and C) are caused by strong contractions of the rectus femoris and sartorius muscles, respectively. These, too, tend to happen during running, often during an abrupt directional change. Some cases of anterior inferior/superior iliac spine avulsions occur with kicking. At the time of injury, the patient experiences sudden pain at the site and difficulty walking. On examination, point tenderness and swelling are noted over the involved apophysis and weakness on active hip motion is seen secondary to pain. In viewing radiographs, it is important to compare the involved side with the normal side to detect displacement of the avulsed fragment and to avoid mistaking a normal apophysis for a fracture. Treatment is conservative and consists of a few days of bed rest until the pain subsides, followed by 2 to 6 weeks of crutch-walking, with a gradual increase in weight bearing as pain allows. Thereafter, careful reconditioning facilitates a safe return to full activity, usually within 6 to 10 weeks. Pathologic Fractures Children with severe osteopenia or osteoporosis, whether stemming from an inherited disorder or disuse secondary to neurologic or neuromuscular disease, are at considerably

increased risk of incurring fractures as the result of minor falls or even during routine physical therapy exercises. Localized bone lesions including those caused by osteomyelitis, tumors, or cysts, can cause localized cortical thinning as they expand. Impact on the involved bone can then also result in a pathologic fracture. Examples of some of these conditions and representative fractures are presented in Chapter 6. Compartment Syndromes A compartment syndrome arises whenever the interstitial tissue fluid pressure exceeds the capillary perfusion pressure within a muscle compartment. In clinical practice the interstitial pressure elevation must reach approximately 35 to 45 mm Hg for this to occur. Because the enclosed fascial boundary of the involved muscle compartment is unyielding, hemorrhage or edema within it can cause interstitial pressure to rise to such levels, resulting in muscle ischemia and neurovascular compromise. Compartment syndromes are not rare in childhood and can be seen after open or closed fractures, crush injuries, or prolonged pressure on an extremity, which can occur in a comatose child who has been lying on an extremity for several hours. A displaced fracture of the proximal tibial metaphysis is the fracture most likely to be complicated by a compartment syndrome. Other fractures that are well documented to predispose to the development of this problem include supracondylar humerus fractures and displaced forearm fractures. Prompt and accurate diagnosis of a compartment syndrome is essential because, if definitive treatment is not implemented within 4 to 6 hours of onset, permanent neuromuscular

21  |  Orthopedics



damage will result. The clinical findings in compartment syndrome are quite classic. The involved extremity is swollen and tense to palpation. The patient complains of severe pain that is unrelieved by elevation, immobilization, and routine doses of narcotics. Passive movement of the terminal digits (fingers or toes) exacerbates the pain, and active motion is avoided. In view of the fact that pulses may never be diminished or absent despite a full-blown, florid compartment syndrome, the diagnosis or decision to treat should never be based solely on the presence or absence of the peripheral pulses. Because clinical diagnosis can be difficult, especially in the uncooperative or comatose child, intracompartmental needle pressure readings are recommended. Emergency surgical decompression of the fascial covering of all involved compartments is necessary to prevent irreversible muscle and nerve damage. After fascial decompression, relief of pain and return of active muscle power are immediate.

833

A

Ligamentous Injuries Dislocations The ligaments of a child have great elasticity and are relatively strong compared with bony structures, especially the physis (Fig. 21-56). Consequently, joint dislocations and ligamentous disruptions are rather unusual in childhood; when seen, they are usually the result of severe trauma and are commonly associated with fractures. In some instances the dislocation is obvious and the fracture subtle or even invisible radiographically (Fig. 21-57), but often the fracture is the prominent clinical finding and the dislocation less apparent. Hence the emphasis in pediatric orthopedics is on examining the entire extremity and on including the joints proximal and distal to a suspected fracture site in the radiographic examination. Failure to diagnose the full extent of injury can result in permanent morbidity. It must also be remembered that in infants epiphyseal separations before ossification can simulate dislocations. For example, separation of the distal humeral epiphysis in infancy presents a radiographic picture suggestive of posterior displacement of the olecranon. The most frequent sites of dislocation in children are the hip, patellofemoral joint, and interphalangeal joints. Hip dislocations in the young are usually the result of falls. In children younger than 5 years of age, the softness of the acetabulum and relative ligamentous laxity enable dislocation

Figure 21-56  Epiphyseal separation. Because of the elasticity and relatively greater strength of the ligaments, forces that would have resulted in dislocation in an older adolescent have instead caused epiphyseal separation and displacement of the proximal humeral epiphysis in this prepubescent child. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

B Figure 21-57  Fracture–dislocation, right hip. This young infant presented after a serious automobile accident with what appeared to be a traumatic hip dislocation without an associated fracture. A, The right femoral head is displaced laterally and superiorly. B, The follow-up film taken 2 weeks later reveals vigorous callus formation around the proximal femur and periosteal new bone formation both proximally and distally, thus confirming the existence of associated femoral fractures. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

without the application of extreme force, and thus there may be no associated fractures. In older children, violent force is required and dislocation is commonly accompanied by fractures of the femur and acetabulum. In most instances the femoral head dislocates posteriorly. The child presents in severe pain with the involved leg held in adduction, internally rotated and flexed (Fig. 21-58). A position of extension, external rotation, and abduction is adopted by patients with the less common anterior dislocation. When the child also has an impressive femoral fracture, his or her pain may be attributed to that and the positional findings missed, unless the clinician specifically looks for them. Even in patients without an obvious associated fracture, epiphyseal separation or avulsion of an acetabular fragment may have occurred. Prompt reduction is important, both to relieve pain and to reduce the risk of secondary avascular necrosis of the femoral head. Postreduction films are important because these are more likely to disclose the fact that an epiphyseal separation has occurred and tend to show incomplete reduction if a radiolucent intraarticular fragment is present. In patellofemoral dislocations the patella usually dislocates laterally (Fig. 21-59). This may occur as the result of laterally directed shearing forces or of a hyperextension injury. Patients with ligamentous laxity appear particularly susceptible. In

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A

B

Figure 21-58  Traumatic posterior hip dislocation. This child suffered an impaction injury in an automobile accident. A, In the anteroposterior view the right femoral head appears to be displaced laterally and superiorly. The femur is also adducted and internally rotated. B, The frog-leg view discloses the severity of displacement posteriorly.

most instances the patella has relocated by the time the patient is seen. If not, it is seen as a bulge lateral to its usual anterior location and the patient is in severe pain. In such cases x-rays should be deferred, the leg should be extended immediately, and the patella pushed back into place. This maneuver promptly alleviates pain. Other findings on examination include prominent swelling and hemarthrosis, tenderness along the medial patellar border, a positive apprehension test (see Knee and Fig. 21-11), and increased lateral mobility of the patella. Avulsion fractures of the lateral femoral condyle or medial patella are common associated injuries. Application of ice, rest, and use of a knee immobilizer for 3 weeks are recommended. At present there is disagreement on whether surgical intervention should be considered after the first episode or deferred until a recurrence. True shoulder dislocations are seen only in adolescents after epiphyseal fusion. On examination of the shoulder, a loss of the rounded contours lateral and anterior to the acromion is found. When the humeral head dislocates anteriorly, it is displaced medially beneath the coracoid process, where it can be palpated (Fig. 21-60). These patients usually support the affected arm with the opposite hand, with the shoulder in moderate internal rotation. Patients with posterior shoulder dislocations have evidence of a fullness posterior to the glenoid cavity and are unable to externally rotate the involved upper extremity.

Figure 21-59  Patellar dislocation. In this flexion view obtained before relocation, the left patella is displaced laterally and there is marked swelling. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Separation of the proximal humeral epiphysis or major fracture–dislocations are seen in younger children subjected to forces that would cause shoulder dislocation after puberty (see Fig. 21-56). Elbow dislocations are rare in the absence of an associated fracture. The fracture may be as subtle as a nonossified fragment avulsed from the medial epicondyle or the ulna or as prominent as a displaced fracture of the ulna or radius. An example of the latter is the Monteggia fracture, which results from a fall onto the hand with the elbow extended and the forearm rotated radially, producing a varus stress. In this situation a displaced fracture of the proximal ulna is accompanied by dislocation of the radial head. A radial dislocation should be suspected if a line drawn through the long axis of the radius fails to pass through the capitellum on any view (Fig. 21-61). Less frequently, fractures of the radius are associated with dislocation of the radioulnar joint, and fractures of the olecranon may be accompanied by dislocation of the radius. A fall onto an extended or partially flexed arm with the forearm supinated can result in posterior dislocation of both the radius and ulna with tearing of the anterior portion of the joint capsule and of the medial collateral ligaments. This injury may be associated with fracture of the medial epicondyle (see Fig. 21-35), the coronoid process, the olecranon, or the proximal radius. Clinically the forearm is shortened and there is an obvious deformity and marked swelling of the posterior aspect of the elbow. A high risk of neurovascular compromise and compartment syndrome exists in patients with this injury. Dislocation of an interphalangeal joint results in an obvious deformity and is an intensely painful injury (Fig. 21-62). Avulsion fractures, volar plate fractures, and tendinous or capsular injury may be associated with it and difficult to detect radiographically. These must be suspected if range of motion is incomplete after relocation. In some cases the associated injury makes closed reduction impossible. Sprains A sprain is a ligamentous injury in which some degree of tearing occurs, often as a result of excessive stretching or twisting. As noted in the section on fractures, sprains are less common in children with open epiphyses than they are in older adolescents whose epiphyses have fused. When sprains do occur in these younger patients, they tend to be milder and may be associated with Salter-Harris fractures. This stems from the fact that the growth plate, being weaker than the

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835

B

A

Figure 21-60  A, Anterior dislocation of the right shoulder. The humeral head is not in the glenoid fossa but is displaced anteriorly. B, The normal relationship is seen in this comparison view of the left shoulder. The injury occurred when the patient was taking a back swing for a hockey shot. The patient felt a pop with the immediate onset of severe pain. Note that his epiphyses have fused. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

ligaments, tends to give before significant ligamentous tearing can occur. Thus in children, physeal fractures tend to result from forces that would produce a sprain in older adolescents or adults. In many other instances a suspected sprain is actually a small avulsion fracture. If the portion avulsed is ossified, the small fragment may be detectable radiographically, but if the fragment is cartilaginous, it will be radiographically invisible. A particular example of this is the gamekeeper’s thumb, which is often associated with a small avulsion fracture of the proximal phalanx (Fig. 21-63). In it, an injury causing forceful abduction of the thumb results in rupture of the ulnar collateral ligament at the base of the thumb. Adequate examination necessitates stress testing of the radial and ulnar collateral ligaments by applying varus and valgus stress, respectively, with the thumb in extension. However, this is often impossible until pain has been reduced by a digital nerve block. If more than 20 degrees of instability is found on stressing the ulnar collaterals, the patient should be referred to an orthopedist or

A

hand surgeon for possible surgical repair. Failure to correct the problem results in a loss of resistance to abduction and a weak pinch. Before epiphyseal closure, Salter-Harris fractures and avulsion fractures of the distal fibula or tibia should be strongly suspected in children with “sprainlike” injuries of the ankle. Similarly, injuries that rupture the cruciate ligaments of the knee in adults usually avulse the tibial spine in children (Fig. 21-64). These are the result of a blow to the knee, forcing it into hyperextension along with a valgus or varus stress. After physeal closure in adolescence, sprains are seen with some frequency. Sprains are classified in three grades according to severity (Table 21-5). In contrast to physeal fractures, swelling and tenderness are more likely to be prominent and occur early. They are most evident over the involved ligament or ligaments, not over the epiphysis. Pain on motion is often more marked in patients with sprains than in patients with physeal fractures.

B Dislocated radial head Line through axis of radius Capitellum Angulated ulnar fracture

Figure 21-61  Monteggia fracture. A, A displaced fracture of the proximal right ulna is accompanied by dislocation of the radial head. A line drawn through the long axis of the radius would intersect the distal humerus above the level of the capitellum. B, The comparison view of the left arm shows the normal position of the radial head. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 21-62  Interphalangeal joint dislocation. The distal phalanx of the thumb is dislocated dorsally. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Ankle Sprains An ankle sprain in an adolescent patient is typically caused by a severe inversion stress injury, and the presenting findings are diffuse pain and tenderness along with swelling centered below the lateral malleolus, although the superior margin of swelling may cover the malleolus (Fig. 21-65). Areas of maximal tenderness may be found over the anterior talofibular ligament alone or over both it and the calcaneofibular ligament. Rarely the posterior talofibular ligament is also torn in patients with particularly severe sprains, and tenderness and swelling are noted over its course as well. Little pain occurs on dorsiflexion or plantar flexion, but marked pain occurs on passive inversion. Tests for ligamentous stability are described earlier (see Ankle). Knee Sprains Patients with major knee sprains present with marked pain, refusal to bear weight, and swelling resulting from hemarthrosis. Tears of the medial or lateral collateral ligaments of the knee are seen in adolescents and are usually the result of a direct blow that applies valgus or varus stress, respectively. A football tackle and being hit by a car from the side are common reported mechanisms. Tenderness is prominent over the involved ligaments. Major tears result in ligamentous instability detected by the adduction/abduction stress test (see Knee). Tibial spine avulsion fractures (see Fig. 21-64) and anterior cruciate ligament tears stem from falls in which the knee is hyperflexed, often a fall from a bicycle or a fall while skiing. Tenderness is marked anteriorly, and instability is

Figure 21-63  Gamekeeper’s thumb. A small avulsion fracture of the epiphysis at the base of the proximal phalanx is associated with rupture of the ulnar collateral ligament. The injury occurred when the patient fell while skiing and the strap of his ski pole forcefully abducted his thumb on impact.

demonstrated by the anterior drawer and Lachman tests (see Knee, earlier, and Figs. 21-12 and 21-13). Because of the frequency of associated fractures in children and adolescents, patients with apparent sprains and hemarthroses should not undergo tests of ligamentous stability until radiographs have been obtained and the possibility of an unstable fracture has been ruled out. Shoulder Separation A shoulder separation involves a ligamentous tear at the acromioclavicular joint, usually resulting from a fall onto an outstretched, adducted arm. Clinically the lateral aspect of the clavicle appears to ride higher on the injured side than on the normal side, and with application of pressure it may be forced back into its normal position. If it can also be moved forward and backward, the coracoclavicular ligaments have been torn as well. Evaluation and Management In evaluating patients with possible sprains, careful attention must be given not only to assessment of swelling, tenderness, and joint stability, but also to evaluation of adjacent bony structures and to musculotendinous function (see Physical Examination, earlier). Complete evaluation may be impossible

Avulsed fragments

Figure 21-64  Avulsion fracture of the left tibial spine as the result of a soccer injury (anteroposterior view). Also present were a tear in the cruciate ligament and a lipohemarthrosis. (Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

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837

A

Figure 21-65  Ankle sprain. Marked tenderness and swelling were maximal inferior to the malleolus of this 17-year-old youth. The anterior talofibular, calcaneofibular, and posterior talofibular ligaments were all tender. This is in contrast to the findings seen with a Salter-Harris type I fracture of the distal tibia (see Fig. 21-17).

if initial presentation has been delayed for several hours and secondary effusion, soft tissue swelling, and muscle spasm are pronounced. In such instances it may be necessary to immobilize the affected joint with a splint and have the patient return for reevaluation in 24 to 72 hours when the swelling has abated. Rest, the application of ice, use of analgesic antiinflammatory agents such as ibuprofen, and perhaps use of an Ace wrap or taping, suffice for grade I sprains. Subjective improvement occurs in a few days. Grade II and grade III sprains require a longer period of immobilization. Splinting or casting for a few to several weeks is generally necessary. Grade III sprains may require surgical intervention. Subluxation of the Radial Head (Nursemaid’s Elbow) Subluxation of the radial head is the most common elbow injury in childhood and one of the most common ligamentous injuries. The mechanism is one of sudden traction applied to the extended arm. The injury is seen predominantly in children between the ages of 1 and 4 years. The typical history

Table 21-5 Grade of Sprain I II

III

Classification of Sprains Degree of Tearing

Clinical Findings

A small percentage of ligamentous fibers is disrupted A moderate percentage of fibers is torn

Pain on motion Local tenderness Mild swelling Pain on motion More diffuse tenderness Moderate swelling, may have joint effusion Mild instability Severe pain on motion Marked swelling, usually with joint effusion Marked tenderness Joint instability

The ligament is completely disrupted

B Figure 21-66  Nursemaid’s elbow. A, The affected arm is held close to the body with the elbow flexed and the forearm pronated. B, The reduction maneuver consists of supinating the forearm while pressing down on the radial head.

is one of a parent’s suddenly pulling the child up by the arm to prevent a fall; of the child, in a fit of temper, attempting to pull away from the parent; or of a child being swung by an arm. However, in a number of cases the injury is due to the child’s grabbing onto some object in an effort to avoid falling. This type of injury can also occur in an infant who is rolled over with an extended arm trapped beneath his or her trunk. After a brief initial period of crying, the child calms down but is unable to use the affected arm, which is held close to the body with the elbow flexed and forearm pronated (Fig. 21-66, A). If old enough to talk, the child may complain of elbow, forearm, or even wrist pain. Physical examination reveals no bony tenderness and no evidence of swelling, but on assessment of passive motion, the child resists any attempt at supination and cries in pain. Mild limitation of elbow flexion and extension may also be noted. Pathologically, when the radial head is subluxated by the sudden pull on the arm, the annular ligament is torn at the site of its attachment to the radius and the radial head slips through the tear. When the traction is released and the radial head recoils, the proximal portion of the annular ligament

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Distal humerus

Capitellum

Annular ligament

Ulna

Radius

If presentation has been delayed for several hours, there may be a longer delay between reduction and resumption of normal use and it may be necessary to administer acetaminophen for 12 to 14 hours to relieve residual aching. Parents should be cautioned to avoid maneuvers that cause excessive traction on the arm because there is a significant risk of recurrence. Extremity Pain with Ligamentous Laxity Children with significant and generalized ligamentous laxity have hypermobile joints and are vulnerable to excessive stretching or stress on ligamentous and musculotendinous structures. They are also somewhat more susceptible to joint dislocations. The phenomenon is seen in up to 18% of girls and 6% of boys. After periods of vigorous physical activity, these children often complain of arthralgias, shin or muscular pain, and occasionally have evidence of joint swelling. Episodes tend to occur in the evening or at night; are self-limited, lasting 1 to several hours; and respond to rest and acetaminophen or ibuprofen. Many of these children have been accused of attention-getting behavior and hypochondriasis. Others have been dismissed as having “growing pains,” and some have undergone extensive testing for rheumatic disorders. A history of greater than average activity on the preceding day and of recurrent short-lived pain usually without objective swelling, combined with findings of ligamentous laxity on examination (Fig. 21-68), should point to this diagnosis. The rarity of joint swelling and the absence of fever and other systemic symptoms help to rule out rheumatic and collagen vascular disorders. Once the problem is correctly diagnosed, patients can minimize discomfort by avoiding sudden increases in level of activity, when possible, and by taking a mild analgesic prophylactically before going to bed after a day of unusually vigorous activity. Graduated strengthening exercises may also be helpful. This is particularly true for children who want to participate in gymnastics or competitive sports.

DISORDERS OF THE NECK AND SPINE A

B

Figure 21-67  Nursemaid’s elbow. A, Sudden traction on the outstretched arm pulls the radius distally, causing it to slip partially through the annular ligament and tearing it in the process. B, When traction is released, the radial head recoils, trapping the proximal portion of the ligament between it and the capitellum.

becomes trapped between the radial head and the capitellum (Fig. 21-67). This limits motion and produces the child’s pain. Radiographs are normal because the radial head is not truly subluxated. When a patient presents with a typical history, is found to have no evidence of tenderness, and resists supination, x-ray studies are unnecessary. Reduction, as described later, should be attempted. Treatment consists of supinating the child’s forearm with the elbow in a flexed position while applying pressure over the radial head (see Fig. 21-66, B). A click can be perceived as the annular ligament is freed from the joint. On occasion this maneuver fails, in which case the forearm should be supinated and extended with traction applied distally while pressing down on the radial head. If this fails as well, pronation with the elbow in extension may be attempted. On reduction, pain relief is immediate and return of function is evident within 10 to 15 minutes. Clinicians often recommend that the child wear a sling for 10 days to reduce use and to allow the annular ligament to heal; compliance is difficult to ensure, however.

Children with disorders of the axial skeleton most commonly present with some type of deformity. Pain or dysfunction of the associated spinal cord and nerve roots may also prompt evaluation. Because these conditions often progress with growth, awareness and early recognition are important to assist early institution of appropriate treatment and to minimize resultant morbidity.

Congenital Torticollis Congenital torticollis, or “wryneck,” is a positional abnormality of the neck produced by fibrosis and shortening of the sternocleidomastoid muscle. It is thought to be secondary to abnormal intrauterine positioning or to birth trauma resulting in the formation of a hematoma within the muscle belly. Usually the condition is recognized at or shortly after birth. A palpable swelling or “tumor” is often noted within the muscle. With subsequent fibrosis, the characteristic deformity of torticollis develops, consisting of head tilt toward the affected side with rotation of the chin to the opposite side (Fig. 21-69). Passive rotation is diminished toward the side of the torticollis, and lateral side bending is limited toward the side away from the torticollis. Although the mass usually disappears in the first several weeks of life, contracture of the muscle persists and, if untreated, may result in craniofacial disfigurement with flattening of the face on the affected side. Gentle passive stretching exercises and positioning the child’s crib so that external stimuli will cause him or her to turn the head and

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A

839

B

Figure 21-68  Ligamentous laxity. This child shows findings typical of the joint hypermobility seen with ligamentous laxity. A, He is able to hyperflex the wrist on the forearm. B, He can also hyperextend the distal interphalangeal joint and the metacarpophalangeal joint.

neck away from the side of deformity may be beneficial. If these measures fail, surgical release of the contracted muscle may be indicated. Considerations in the differential diagnosis include KlippelFeil syndrome; inflammatory or infectious conditions of the head, neck, or nasopharynx; posterior fossa or brainstem neoplasm; traumatic cervical spine injury; and atlantoaxial rotary subluxation. However, with the exception of the KlippelFeil anomaly, the other conditions tend to occur considerably later in childhood. In addition, a hip examination should be performed and an AP pelvis radiograph obtained for each infant with torticollis because hip instability or dysplasia is present in approximately 20% of these children.

Klippel-Feil Syndrome Patients with Klippel-Feil syndrome have a congenital malformation of the neck that results from a failure of segmentation in the developing cervical spine. The condition varies greatly in severity, depending on the number of vertebrae that are

Figure 21-69  Congenital torticollis. The “tumor” of congenital torticollis is seen as a swelling in the midportion of the sternocleidomastoid muscle. It is firm on palpation, and the muscle itself is shortened. The head tilts toward the affected side, and the chin rotates in the opposite direction. (Courtesy James Reilly, MD, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Del.)

fused (Fig. 21-70, A and B). More severely affected indivi­ duals exhibit a short, broad neck with the appearance of “webbing,” a low hairline, and gross restriction of motion (Fig. 21-70, C and D). The condition may be associated with other con­genital malformations such as a Sprengel deformity (see Fig. 21-81); rib deformities; scoliosis; CNS defects; and cardiac, pulmonary, and renal anomalies. Secondary neurologic problems are rare, but accelerated degenerative changes may occur at mobile spinal segments adjacent to the involved vertebrae. On occasion, range-of-motion exercises or bracing may be tried to improve mobility or correct the deformity. Surgery, except for cosmesis or the treatment of neurologic dysfunction, is rarely indicated. Mild forms of the malformation may be diagnosed only as a result of radiographs taken for other reasons.

Scoliosis Scoliosis is a condition in which there is curvature of the spine occurring in the lateral plane. It occurs in structural forms, characterized by a fixed curve, and “functional” forms, characterized by a flexible or correctable curve. By anatomic necessity, this lateral deviation is associated with vertebral rotation, such that when this deformity occurs in the thoracic spine, a chest wall deformity, or “rib hump,” develops (Fig. 21-71). When it occurs in the lumbar spine, a prominence of the flank may be noted (Fig. 21-72). Often there is a primary structural curve with an adjacent secondary compensatory curve. Most cases of structural scoliosis are idiopathic and have their onset in early adolescence. A familial predisposition has been documented, but inheritance appears to be multifactorial. Females are affected more often than males, and their curvature is more likely to worsen. Infantile (0 to 3 years) and juvenile (3 to 10 years) forms of idiopathic scoliosis are seen, although much less commonly. Those with onset in infancy rapidly develop plagiocephaly with flattening of the head on the concave side of the curve and a corresponding prominence on the opposite side of the head. Affected infants also have an increased incidence of associated hip dysplasia, congenital heart disease, inguinal hernia, and mental retardation. Structural scoliosis can also occur in conjunction with neuromuscular conditions such as cerebral palsy (Fig. 21-73), myelomeningocele, spinocerebellar degeneration, polio, and spinal cord tumors; myopathic disorders including arthrogryposis and muscular dystrophy; congenital spinal anomalies (Fig. 21-74, A and B) such as hemivertebrae, trapezoidal vertebrae, and unsegmented vertebrae; neurofibromatosis (Fig. 21-75) and mesenchymal disorders; and a variety of other conditions (Table 21-6). These neuromuscular and congenital forms of scoliosis tend to

Figure 21-70  Klippel-Feil syndrome. A, This radiograph shows mild osseous involvement with fusion of the upper cervical segments. B, In this radiograph another patient has severe osseous involvement in which C3-C7 are fused and hypoplastic. C, Clinically the neck appears short and broad in the anterior view of this young child. D, In this posterior view the hairline is low and an associated Sprengel deformity is present, the left scapula being hypoplastic and high riding. As a result, the patient is unable to fully raise his left arm. Typical webbing of the neck is not appreciable in this child.

A

B

C

D

A Figure 21-72  Lumbar scoliosis. Pelvic obliquity is present, with prominence of the left flank.

B Figure 21-71  Moderate idiopathic thoracic scoliosis in an adolescent. A, Scapular asymmetry is easily discernible in the upright position. This results from rotation of the spine and attached rib cage. B, Forward flexion reveals a rib hump deformity.

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841

A

Figure 21-73  Neuromuscular scoliosis. This 12-year-old boy has cerebral palsy and scoliosis. Note that his sitting balance is affected by the curve of his spine, which extends from the upper thorax to his pelvis, resulting in pelvic obliquity and inability to sit independently. This is typical of spinal deformity in patients with neuromuscular disorders.

have more rapid progression of curvature than is true of idiopathic scoliosis, and infants with congenital spinal anomalies have a high incidence of associated genitourinary anomalies. Apparent nonstructural, flexible, or “functional” scoliosis may be seen in association with poor posture; limb length inequality; or flexion contracture of a hip or knee, in which case the curve disappears when the child is seated. It can also be seen with paraspinous muscle spasm after a back injury; as the result of splinting because of pain in cases of pyelonephritis, appendicitis, or pneumonia; or in patients with a herniated intervertebral disk and secondary nerve root pain (see Fig. 21-80, A; see also Table 21-6). These forms resolve with treatment of the primary disorder. Except in curvatures resulting from inflammatory or neoplastic processes and from herniation of an intervertebral disk, pain is rarely a complaint in children and adolescents with scoliosis. In fact, patients with pain, signs of nerve root compression, or evidence of new-onset peripheral neurologic deficits should undergo thorough evaluation for a treatable underlying cause. The clinical signs found during examination in a patient with scoliosis can be separated into true pathognomonic findings and associated stigmata, which may also occur in otherwise normal, nonscoliotic children. The only true pathognomonic sign of scoliosis is the presence of a curve noted on forward bending, which constitutes a positive Adams forward bend test (see Thoracolumbar Spine, earlier). An associated convex posterior chest wall prominence (termed rib hump) or paralumbar prominence may also be noted on forward bending (see Fig. 21-71, B). The rib hump and paralumbar prominence are manifestations of the vertebral rotational deformity seen in scoliosis.

B Figure 21-74  Congenital scoliosis. A, This 7-year-old was born with fusion of ribs 5 to 10 on her right side. She also has congenital failure of segmentation of several vertebrae. Both of these anomalies contributed to her progressive scoliotic deformity. B, She was treated with an opening thoracostomy (separation of the ribs) and insertion of a vertical expandable prosthetic titanium rib (VEPTR; Synthes, Solothurn, Switzerland). This device allows for spinal growth and expansion of the chest cavity by repeated surgical expansions at 6-month intervals.

Table 21-6

Causes of Scoliosis

Structural Scoliosis Idiopathic Congenital Neuromuscular Other conditions that may result in scoliosis: • Myopathic disorders • Neurofibromatosis • Mesenchymal disorders • Osteochondrodystrophies

• Metabolic disorders • Trauma, surgery, irradiation, burns Functional Scoliosis Herniated lumbar disks Postural derangements Limb length inequality Irritative or inflammatory disorders Hysteria

842

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

T-5

Rotational deformity

75°

L-

1

A

B

Figure 21-75  Severe thoracic scoliosis secondary to neurofibromatosis. A, Note the chest wall deformity and that the patient’s head is not centered over the pelvis. B, The severe curvature is more apparent on this radiograph. The angle of measurement (here, 75 degrees) is determined by the intersection of lines drawn perpendicular to the vertebrae at the ends of the curve (Cobb method).

Frequently a diagnosis of scoliosis is based not on a positive forward bend test, but rather on the presence of so-called stigmata signs. These signs include shoulder asymmetry, unilateral scapular prominence, waist asymmetry, and small chest or paralumbar humps (see Figs. 21-71, A; 21-72; and 21-75, A). Any or all of these stigmata signs may be present in a child with true scoliosis, but the mere presence of these stigmata does not always imply the presence of scoliosis. Body asymmetry is a frequent occurrence in the normal nonscoliotic child. A carefully performed Adams forward bend test always determines whether the stigmata signs are associated with true scoliosis or simply evidence of body asymmetry. Because screening studies have shown that up to 5% of school-age children and adolescents have lateral curvatures, routine screening by primary care physicians is important. Hence the forward bend test should be part of all examinations in children from age 6 to 7 years until the end of puberty (see Thoracolumbar Spine, earlier). When true clinical scoliosis is found, the patient should be referred for orthopedic evaluation no matter how small the curve is believed to be. It is probably safer and more cost-effective for the primary care physician to make the referral without obtaining prior radiographs, because typical office radiographs done for scoliosis screening are usually not of high quality. Standing, full-torso x-rays taken on 36-inch-long (90 cm) cassette films with special grids are much more helpful and more readily available in the orthopedic clinic or office. Once a diagnosis of scoliosis has been made, follow-up x-rays are routinely obtained no more frequently than at 6- to 9-month intervals. The goal of close follow-up is to detect progression of curvature early and to implement treatment to prevent or reduce it when needed. Idiopathic curves of 25 to 30 degrees or more and lesser curves showing rapid progression are treated by spinal bracing and an exercise program. Children with curves exceeding 45 to 50 degrees or those with curves that progress rapidly despite bracing require operative intervention. Patients with untreated curvatures exceeding 75 to 80 degrees inevitably suffer significant secondary cardiopulmonary problems including decreased vital capacity, shunting, decreased oxygen saturation, and cor pulmonale. Newborns and infants should be screened for congenital and infantile forms of scoliosis. This is often best done by

holding the infant prone on the examiner’s hand and can be done while assessing for parachute reflex.

Kyphosis Kyphosis is a condition in which there is curvature of the spine in the sagittal plane. The thoracic spine normally has a kyphotic curvature of 25 to 50 degrees, with a similar amount of lordosis in the lumbar spine in the sagittal plane. Excessive kyphosis may be purely postural in nature or may be associated with a number of pathologic conditions. The latter include congenital vertebral anomalies, a spinal growth disturbance known as Scheuermann disease (Fig. 21-76), neuromuscular afflictions, skeletal dysplasias, and metabolic diseases (Fig. 21-77). Kyphosis can also develop after spinal trauma or surgery. Patients with a structural deformity may complain of backache aggravated by motion. The deformity is best viewed from the lateral position on forward bending. Evaluation of the effects of posture and of application of pressure over the apex of the curve assists diagnosis and decisions regarding treatment. Postural kyphosis is usually seen in preadolescents and consists of a flexible thoracic kyphosis that is correctable on hyperextension. Most affected children have a compensatory increase in lumbar lordosis. Radiographic findings are normal. Treatment consists of an exercise program designed to strengthen trunk and abdominal muscles, which are usually weak in these patients. Scheuermann disease, a disorder of unknown etiology, is the most common cause of fixed kyphotic deformity. It can be distinguished clinically from postural kyphosis by its inherent stiffness and the greater magnitude of the deformity. The deformity fails to correct or is only partially correctable on hyperextension or on the application of pressure over the apex of the curve. Lateral radiographs reveal anterior wedging of three or more consecutive vertebral bodies that are located at the apex of the curve. Radiographic evidence of end-plate erosion of the involved vertebrae often exists, and Schmorl nodules are a common associated finding (see Fig. 21-76). Exercises and bracing are quite effective in treating mild structural kyphosis in the growing spine. However, when the deformity is severe and fixed, surgical correction and stabilization may be indicated.

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A

Figure 21-76  Moderate thoracic kyphosis secondary to Scheuermann disease. A, The patient is attempting to correct the deformity, but because of its fixed nature, he cannot do so and must compensate for this with an increased lumbar lordosis. B, This tomographic cut shows anterior wedging of three consecutive vertebral bodies and clearly demonstrates the associated erosion of the vertebral end plates and Schmorl nodules.

A

B

B

Wedging of vertebra Irregular end-plate

C Figure 21-77  A, Severe kyphosis of the thoracic spine secondary to vertebral wedging in a patient with glycogen storage disease. To stand upright, the patient must increase his lumbar lordosis and thrust his head forward to center it above the pelvis. B, The kyphotic deformity is accentuated on forward bending. C, Radiographically, the vertebral wedging that underlies the kyphotic deformity is evident.

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Spondylolisthesis

Herniated Intervertebral Disk

Spondylolisthesis is a condition characterized by the translation or forward displacement of one vertebral body over another and is seen most commonly at the lumbosacral articulation. The problem may develop as a result of insufficiency or fatigue fractures of the pars interarticularis (isthmic), congenital dysplasia of the posterior spinal elements (dysplastic), or degenerative changes in the disk and facets (degenerative), or it may occur secondary to pathologic lesions within the vertebra and its elements (pathologic). Isthmic spondylolisthesis (spondylolysis) is by far the most common type (Fig. 21-78). Patients with a congenital predisposition may show alarming degrees of slippage. The condition is often associated with low back pain that increases with strenuous activities and abates with rest. Some patients have symptoms of nerve root irritation. This necessitates differentiation from inflammatory and neoplastic processes and from disk herniation. Examination often reveals loss of normal lumbar lordosis, tenderness of the involved posterior elements, paravertebral muscle spasm, and secondary tightness of the hamstring muscles. A step-off deformity may be evident on palpation of the spinous processes. Range of motion is often limited in extension because of pain. Nerve root signs may be present. In its most severe form, spondyloptosis, the L5 vertebral body may completely translate off the sacrum, and the patient characteristically exhibits a waddling gait, a transverse abdominal crease, flattened buttocks, and flexion deformities of the hips and knees, as well as foreshortening of the torso (Fig. 21-79, A and B). Characterization and grading of the process are accomplished with radiographs. The oblique view may reveal a spondylolysis and the lateral view the degree of spondylolisthesis (Fig. 21-79, C; see also Fig. 21-78). In mild to moderate cases, treatment consists of appropriate exercises and bracing. Patients with progressive slippage require surgical fusion, and those with neural involvement may also require nerve root decompression. In cases of severe spondylolisthesis with cosmetic deformity, functional impairment, and neurologic dysfunction, surgical reduction of the deformity may be attempted but is not easy, nor is it without risk to the adjacent neural structures.

Although relatively common in adults, herniated disks occur only rarely in children and infrequently in adolescents. They are almost always limited to the lower two segments of the lumbar spine. A history of antecedent trauma is not uncommon. Lower extremity radicular symptoms predominate. Patients often describe a peculiar “pulling” sensation in a lower extremity or liken their pain to a “toothache” in the distribution of the L5 or S1 nerve roots (see Chapter 15). They also may complain of numbness or weakness in the involved limb. Forward flexion, sitting, coughing, and straining aggravate the neurologic symptoms. On examination, an antalgic scoliosis of the lumbar spine may be apparent, which the patient is unable to reduce (Fig. 21-80, A). Inability to reverse the normal lumbar lordosis is noted, and symptoms may be aggravated by attempts at flexion. The straight leg raising test is often positive (radicular symptoms being reproduced when the limb is raised by the examiner; see Thoracolumbar Spine, earlier; and Fig. 21-5), and neurologic abnormalities may be found on sensory, motor, and reflex testing, although these may be subtle. Plain radiographs usually show no abnormality, other than a possible diskogenic scoliosis, but the diagnosis may be verified by myelography, CT, or MRI (Fig. 21-80, B). The differential diagnosis may include hematogenous disk space infection or vertebral osteomyelitis, spinal cord or neural element tumor, and spondylolisthesis with nerve root irritation. Nonsurgical treatment consisting of rest and antiinflammatory agents may be successful, but if a profound neurologic deficit is present or if incapacitating symptoms persist, surgical disk excision may be indicated. Intradiskal chemonucleolysis, as employed for adults, is contraindicated for children, and conservative treatment of radiographically proven disk herniation is not as effective in adolescents as it is in adults.

DISORDERS OF THE UPPER EXTREMITY Because of the importance of prehensile function, disorders affecting any area of the upper limb can result in significant impairment of motor development during childhood.

Figure 21-78  Radiograph of a moderate isthmic spondylolisthesis in a 14-year-old boy. The forward slippage of L5 on the sacrum was the result of a fatigue fracture of the pars interarticularis.

Defect in pars interarticularis Slippage of L-5 forward on S-1

L-5 S-1

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C

A

No visible continuity between anterior and posterior elements of spine

B

Figure 21-79  Spondyloptosis in a 16-year-old girl. A, A cosmetic deformity is common with this magnitude of spondylolisthesis. The torso is foreshortened, and a transverse abdominal crease is present. B, In the lateral view the torso is thrust forward, the buttocks are flattened, and there are flexion deformities of the hips and knees. C, The L5 vertebra has completely translocated off the sacrum as the result of a congenital insufficiency of the posterior elements; the lumbar spine has essentially migrated anteriorly and into the pelvis.

Knowledge of the normal anatomy and actions of the shoulder, arm, elbow, forearm, wrist, and hand is vital for assessment of abnormalities and institution of appropriate treatment.

Sprengel Deformity A Sprengel deformity is a congenital malformation characterized by an abnormally small, high-riding scapula. In most cases it is unilateral. The etiology is unknown, but there appears to be a familial predisposition and the condition may

L-5 S-1

Vertical orientation of sacrum

be associated with a variety of other congenital anomalies including Klippel-Feil syndrome (see Fig. 21-70) and rib and vertebral malformations. Scoliosis and torticollis may be associated abnormalities. Cosmetic deformity and limited shoulder motion on the affected side are the usual complaints. On examination, the scapula is noted to be hypoplastic and high riding in association with asymmetry of the base of the neck and shoulders (Fig. 21-81, A). Shoulder motion is usually severely limited, particularly in abduction (Fig. 21-81, B). This is due to limited scapular motion because the scapula is often

Figure 21-80  Herniated intervertebral disk. A, Diskogenic scoliosis is evident in a 16-year-old girl with a herniated disk at L4-L5. The trunk is shifted away from the affected side. The normal lumbar lordosis is absent, and spinal motion is severely limited. B, On sagittal magnetic resonance imaging, the L4-L5 disk bulges posteriorly, compressing the cauda equina. (B, Courtesy Department of Pediatric Radiology, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

A

Severe slippage of L-5 off of S-1

B

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Figure 21-81  Sprengel deformity. A, The left scapula is high riding and hypoplastic, and its vertebral border is prominent. B, Shoulder motion is severely limited, particularly in abduction. (Courtesy Dana Mears, MD.)

A

B

tethered to the cervical spine by a fibrous omovertebral band, which is frequently ossified. Radiography confirms the abnormal size and position of the scapula. Nonsurgical treatment consisting of stretching and rangeof-motion exercises may be instituted but is rarely successful. Surgery may be undertaken on occasion for cosmetic and functional reasons and may consist of excision of the prominent superior aspect of the scapula or of release and reduction of the scapula accomplished by positioning it inferiorly on the chest wall. Although care must be taken during the procedure to prevent brachial plexus injury, surgery performed before adolescence usually improves appearance and restores some function.

Congenital Pseudarthrosis of the Clavicle Congenital pseudarthrosis of the clavicle is a rare congenital disorder usually manifested by a painless, nontender bulbous deformity in the region of the midclavicle. It is thought to result from a failure of maturation of the ossification center of the clavicle. It generally involves the right side and on occasion may be associated with other congenital anomalies and can be seen in patients with neurofibromatosis 1. In cleidocranial dysostosis the entire clavicle may be absent or may have an appearance similar to that of congenital pseudarthrosis. On examination, the clavicle appears foreshortened with a prominence evident in its midportion (Fig. 21-82; see Chapter 6 for radiographic appearance). Palpation reveals hypermobility of the two ends of the clavicle and crepitance. In general, range of motion of the shoulder is normal. This condition characteristically involves no functional impairment and requires no treatment. Although clavicular fracture as a result of birth trauma may present a similar appearance, it is easily distinguished because of tenderness over the region of deformity.

Treatment is best instituted early with passive stretching exercises and corrective casting. Surgical treatment consists of centralization of the hand on the “one-bone forearm” to maximize function.

Ganglion of the Wrist A ganglion is a benign cystic mass consisting of an accumulation of synovial fluid or gelatin in an outpouching of a tendon sheath or joint capsule. The exact etiology is unknown, but it is thought to be related to a herniation of synovial tissue with a ball–valve effect. Antecedent trauma may be reported. These masses may be present over the dorsal or volar aspects of the wrist and are generally located toward the radial side (Fig. 21-84). On occasion they are seen on the dorsum of the foot or adjacent to one of the malleoli of the ankle (see Fig. 21-108). Their size may fluctuate with time and activity. On examination they may be either firm or fluctuant, and they can be transilluminated. Although most are asymptomatic, an occasional patient may complain of pain and tenderness. Treatment is generally unnecessary for patients who are asymptomatic, and surgery is not routinely advised because the recurrence rate may be as high as 20%. On occasion, patients desire removal for cosmetic or psychological reasons.

Radial Club Hand Radial club hand is the result of congenital absence or hypoplasia of the radial structures of the forearm and hand. Associated muscular structures and the radial nerve are hypoplastic or absent. The anomaly is rare and affects more male than female subjects. Its characteristic clinical presentation is one of a small, short, bowed forearm and aplasia or hypoplasia of the thumb, and the residual hand is deviated radially (Fig. 21-83, A and B). Radiographs show absence of bones in the affected area (Fig. 21-83, C).

Figure 21-82  Congenital pseudarthrosis of the clavicle. There is a bulbous, nontender swelling in the region of the midclavicle. The medial aspect of the clavicle is prominent. This patient has associated anomalies. Radiographic appearance is shown in Chapter 6.

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A

847

C Rudimentary thumb

Angular deviation of wrist-hand Absent radius

B Figure 21-83  Radial club hand. A, The forearm is shortened with radial deviation of the hand and wrist on the ulna. B, A flexion deformity of the hand and wrist on the forearm and a hypoplastic thumb are present. C, Radiograph shows absence of the radius, dislocation of the carpus, and a rudimentary thumb, all characteristic of radial club hand. (Clinical photographs courtesy Joseph Imbriglia, MD, Allegheny General Hospital, Pittsburgh, Pittsburgh, Pa.)

Aspiration, injection, or rupture of these cysts does not eradicate them. Surgical excision with obliteration of the base of the ganglion is the most successful treatment for the occasional patient in whom treatment is indicated.

Syndactyly is a relatively common congenital anomaly involving failure of the digits of the hands or feet to separate. It is both more common and more disabling in the

upper extremity. Bilateral involvement is usual, and a positive family history is not uncommon. It may be associated with other congenital anomalies, particularly Apert syndrome and Streeter dysplasia. Great variation in the degree of fusion exists. In mild cases, only the skin is joined, making reconstructive surgery simple (Fig. 21-85). In more severe cases the nails, deeper structures, and bones may be conjoined, contributing to deformity and growth abnormalities and making reconstructive treatment more difficult.

Figure 21-84  Ganglion of the wrist. This cystic mass overlying the wrist joint and flexor tendons was asymptomatic and nontender.

Figure 21-85  Syndactyly. This child has mild syndactyly involving soft tissues of the middle and ring fingers without bony involvement. (Courtesy Joseph Imbriglia, MD, Allegheny General Hospital, Pittsburgh, Pa.)

Syndactyly

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 21-87  Boutonnière deformity of the finger. A fixed flexion contracture of the proximal interphalangeal joint exists, along with hyperextension of the distal joint secondary to volar migration of the lateral bands of the extensor mechanism. This is the result of an unrecognized or inadequately treated injury to the extensor tendon at its insertion on the middle phalanx.

Figure 21-86  Congenital trigger thumb. There is a fixed flexion deformity at the interphalangeal joint of the thumb resulting from tightness of the tendon sheath of the flexor pollicis longus. The remainder of the hand appears normal.

Congenital Trigger Thumb A congenital trigger thumb is characterized by a fixed or intermittent flexion deformity of the interphalangeal joint of the thumb that may be present at birth or may develop shortly thereafter (Fig. 21-86). It is thought to result from tightness of the tendon sheath of the flexor pollicis longus in the region of the metacarpophalangeal joint. The flexion deformity generally cannot be reduced, although in milder cases it may be passively correctable, with a snapping sensation felt as the tendon passes through the stenosed pulley mechanism. If passively correctable, splinting in extension occasionally results in correction; otherwise, surgery is required.

Boutonnière (Buttonhole) Deformity A boutonnière deformity of a finger is the end result of a traumatic avulsion of the central portion of the extensor tendon at its insertion on the middle phalanx that went unrecognized at the time of initial injury. The mechanism of injury is usually a blow to the tip of the finger that drives it into forced flexion against resistance, although a laceration over the dorsum of the finger involving the extensor tendon may produce a similar deformity if tendon involvement is not recognized and repaired at the time. Initially, there may be local tenderness over the dorsal aspect of the PIP joint without deformity. With time, however, the lateral bands of the extensor mechanism migrate volarly, producing a flexion deformity of the PIP joint with a secondary extension deformity of the distal joint (Fig. 21-87). If the injury is recognized early, healing may occur with splinting of the PIP joint in extension. Later, open surgical repair may be necessary to improve function.

is that of a “dropped finger” or flexion deformity of the distal interphalangeal joint with inability to actively extend the joint (see Fig. 21-49). If not recognized and treated at the time of the initial injury, the condition becomes chronic and contracture of the extensor mechanism may occur, with a secondary hyperextension deformity of the PIP joint producing a swanneck deformity (Fig. 21-88). Treatment consists of splinting the distal joint in an extended position, open reduction if a large fragment of bone is involved, or surgical repair in chronic cases.

DISORDERS OF THE LOWER EXTREMITY Normally developed and functional lower extremities permit locomotion with ease and a minimal amount of energy expenditure. A disability resulting from a deformed, shortened, or painful lower limb can be considerable (see Gait and Gait Disturbances, earlier). Many problems of the lower extremities occurring in childhood are congenital and, if they remain unrecognized or are unsuccessfully treated, can result in lifelong disability. Knowledge of the normal anatomy and function of the hip, knee, ankle, and foot is necessary to accurately recognize and treat abnormalities in this region (see Lower Extremity Examination, earlier).

Developmental Dislocation of the Hip Developmental dislocation of the hip, formerly referred to as congenital dislocation of the hip, consists of displacement of the femoral head from its normal relationship with the

Mallet Finger/Swan-Neck Deformity A mallet finger is the result of avulsion of the extensor tendon from its insertion at the base of the distal phalanx of a finger. It occurs as a result of a blow to the extended finger against resistance. The tendon alone, or a portion of the distal phalanx into which it inserts, may be involved. The clinical appearance

Figure 21-88  Mallet finger with secondary swan-neck deformity. This is the result of avulsion of the extensor tendon from its insertion at the base of the distal phalanx, which was not recognized at the time of injury. The patient shows a flexion deformity of the distal interphalangeal joint and secondary hyperextension of the proximal interphalangeal joint.

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acetabulum. It is a relatively frequent problem, with an incidence of 1 to 2 per 1000 births. It is generally detectable at birth or shortly thereafter. Female infants are affected significantly more frequently than male infants, and unilateral dislocation is twice as frequent as bilateral. Developmental dislocation may be divided into idiopathic and teratogenic types. Idiopathic dislocation is more frequent, and patients often have a positive family history for the defect. Its severity varies from subluxated, to dislocated and reducible, to dislocated and irreducible. This type of developmental dislocation may be related to abnormal intrauterine positioning or restriction of fetal movement in utero, which impedes adequate development and stability of the hip joint complex. The relaxing effect of hormones on soft tissue during pregnancy may also contribute, with affected infants perhaps being more sensitive to the pelvic relaxation effects of maternal estrogen. A history of breech presentation is not uncommon, and these patients often exhibit generalized ligamentous laxity. Teratogenic dislocations of the hip represent a more severe form of the disorder and are probably the result of a germ plasm defect. They occur early in fetal development and result in malformation of both the femoral head and the acetabular socket. Associated congenital anomalies are common in infants whose dislocations are teratogenic, including clubfoot deformity, congenital torticollis, metatarsus adductus, and infantile scoliosis. The importance of careful hip evaluation in the newborn and at early infant visits cannot be overemphasized. Early diagnosis enables prompt institution of treatment and results in a better outcome. A knowledge of the clinical signs and skill in techniques of examination are necessary. Typically, the infant with a dislocated hip has no noticeable difference in the position in which the leg is held, although some affected infants may hold the leg in a position of adduction and external rotation. If the dislocation is unilateral, the skin folds of the thighs and buttocks are often asymmetrical and the involved lower extremity appears shorter than the opposite side (Fig. 21-89, A). This foreshortening is accentuated by holding the hips and knees in 90 degrees of flexion (Galeazzi sign). In patients with bilateral dislocations, this asymmetry is not present. In a truly dislocated hip, the most consistent physical finding is that of limited abduction (see Fig. 21-89, B). Additional diagnostic maneuvers may assist in establishing the diagnosis. In patients with reducible dislocations, the Ortolani sign is positive when a palpable clunk is felt on abduction and internal rotation (relocation) of the hip. The Barlow test is positive if, with the knees flexed and hips flexed to 90 degrees, the hips are gently adducted with pressure applied on the lesser trochanter by the thumb. A palpable clunk indicating posterior dislocation is appreciated if the hip is unstable or dislocated. When the hip is dislocated and irreducible, only limitation of abduction is apparent. The radiographic findings of a developmental hip dislocation are characteristic. The femoral head is generally located lateral and superior to its normal position, and the acetabulum may be shallow, with lateral deficiency and a characteristic high acetabular index or slope (Fig. 21-89, C and D). Reduction of the dislocated hip is apparent if, on abduction of the hip to 45 degrees, a line drawn through the axis of the metaphysis of the neck crosses the triradiate cartilage (Fig. 21-89, diagram). Because ossification is not evident radiographically until 3 to 6 months of age, ultrasound evaluation of the hip is often helpful in determining the acetabular–femoral head relationships. Furthermore, in developmental dislocation, ossification may be delayed even longer, because normal articulation forces are absent. In teratogenic hip dislocation, there may be hypoplasia of both the acetabular and femoral sides with noncongruent

849

development of one or both of these structures. The early radiographic findings, however, are similar to those already mentioned. Successful correction of congenital hip dislocation depends on early diagnosis and institution of appropriate treatment. In the first 6 months of life, use of a Pavlik harness, which permits gentle motion of the hip in a flexed and abducted position, may achieve and maintain a satisfactory reduction. Between 6 and 18 months of age, gentle closed reduction and immobilization in a spica cast with or without surgical release of the contracted iliopsoas and adductor muscles is indicated. After the age of 18 months, reduction by manipulative measures is difficult owing to contractures of the associated soft tissues. In such instances open reduction is usually indicated. In cases of teratogenic dislocation, underlying maldevelopment makes the outcome less satisfactory, even with optimal management. With early recognition and appropriate treatment, a relatively normal hip with satisfactory function can be anticipated in cases of idiopathic hip dislocation. Failure of concentric reduction or complications such as avascular necrosis of the femoral head, resulting from overzealous attempts at closed reduction in long-standing cases, may result in a lifelong disability characterized by pain and stiffness in the hip; an ant­ algic, lurching gait; and shortening of the involved limb.

Legg-Calvé-Perthes Disease In Legg-Calvé-Perthes disease (coxa plana), impairment of the blood supply to the developing femoral head results in avascular necrosis. The etiology is unknown. Current theories implicate traumatic disruption of the blood supply and recurrent episodes of synovitis, during which increased intraarticular pressure compromises blood flow to the developing ossific nucleus, as causative. The disorder generally becomes manifest between the ages of 4 and 11 years, with a higher incidence in boys. Affected children often exhibit delayed skeletal maturation and are small for their age. Unilateral involvement is the rule, and if a bilateral case is suspected, some form of epiphyseal dysplasia must be ruled out. The severity of the disease varies greatly, depending on the extent to which the femoral head is affected. Younger children generally have milder involvement, as a larger portion of the femoral head is still cartilaginous and less dependent on vascular supply. Typically onset is insidious. The child may present with symptoms characteristic of toxic synovitis without radiographic findings. Many children present with a painless limp, and others complain of thigh or knee pain, fatigue on walking, or hip stiffness. In general, the patient bears less weight on the involved leg when standing and there is a flexion contracture of the involved hip (Fig. 21-90, A; see also Fig. 21-8, B), with the lower extremity held in a slightly externally rotated position. Pain and limitation of motion are encountered on attempts at internal rotation and abduction. The Trendelenburg sign (failure to maintain a level pelvis when standing on the involved limb) is positive. Early radiographic findings may include failure of progressive development of the femoral ossific nucleus, a subchondral radiolucent fracture line (Caffey sign), and evidence of slight subluxation. However, in early cases, radiographs may be completely normal, although a nuclear bone scan may be useful in verification of impairment of the blood supply to this region. Later, fragmentation of the femoral ossification center may be evident with flattening of the femoral head, extrusion, and frank subluxation (Fig. 21-90, B). The disease is self-limited, typically lasting for 1 to 2 years. Although revascularization and reconstitution of the femoral

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A

B

C

D Normal side Dysplastic, shallow acetabulum

Line through axis of femoral neck to triradiate cartilage (normal)

Femoral head displaced laterally

Axis line superior to and lateral to center of hip joint (abnormal)

Increased distance between femur and pelvis

Figure 21-89  Developmental dislocation of the hip. A, In cases of unilateral dislocation, the involved extremity is foreshortened and the thigh and groin creases are asymmetric. B, Limited abduction of the involved hip is seen. This is a consistent finding in infants with a dislocated and irreducible hip. C, In this anteroposterior radiograph obtained in a 3-month-old child, the proximal left femur is displaced upward and laterally, and the acetabulum is shallow. The femoral head is not visible on the radiograph because of the delayed ossification associated with developmental hip dislocation. D, In the frog-leg view, the long axis of the affected left femur is directed toward a point superior and lateral to the triradiate cartilage, in contrast with that of the right, which points directly toward this structure.

head always occur, loss of mechanical integrity of the head with flattening and fragmentation of its surface may result in an irreversible predisposition to degenerative change. Most treatments are based on the principle of “containment” and the maintenance of a normal relationship of the femoral head within the acetabulum so as to minimize permanent joint incongruity. In young children with minimal symptoms and radiographic findings, decreased activity and close observation may be all that is necessary. Antiinflammatory agents and traction are used during episodes of synovitis. In more severe cases, abduction casting, bracing, or surgical treatment with femoral or acetabular osteotomy to reposition the femoral head deeper within the acetabulum may be employed. In patients whose disease is recognized late or who fail to respond to

appropriate measures, permanent degenerative change is common and salvage-type surgery may be necessary.

Slipped Capital Femoral Epiphysis Slipped capital femoral epiphysis, a disorder seen early in puberty, involves displacement of the femoral head from the femoral neck through the epiphyseal plate. It is seen more frequently in males and occurs bilaterally in appro­ ximately 25% of cases. Most commonly, it occurs at the onset of puberty in obese children with delayed sexual maturation. Although the etiology is unclear, it is generally thought that hormonal changes at the time of puberty may result in loss of mechanical integrity of the growth

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B

A

Figure 21-90  Legg-Calvé-Perthes disease. A, This 7-year-old boy is small for his chronologic age. He is bearing less weight on the involved right leg (note the slightly flexed right knee). On examination a hip flexion contracture, detected by a positive Thomas test (see Fig. 21-8, B), and an abductor lurch gait were found. B, In this anteroposterior radiograph, the right femoral epiphysis is flattened and fragmented. The proximal femur is also displaced inferiorly and laterally.

plate, and that if the epiphysis is then subjected to excessive shear stress, slippage through this area may occur. This condition differs from traumatic epiphyseal fractures because the translational displacement occurs through a different portion of the growth plate. In some cases an underlying connective tissue disorder such as Marfan syndrome or an endocrinologic problem such as hypothyroidism can be identified. The clinical presentation is quite characteristic, although the duration of symptoms varies. The patient presents with a painful limp and may or may not have a history of recent trauma, which is usually minor, or pain may have developed after jumping. This injury may have precipitated a slip in the previously weakened epiphysis or may have increased the degree of displacement of a slip that was already in progress. The pain may be perceived as being in the hip or in the thigh or knee. The lower extremity is held in an externally rotated position secondary to deformity at the site of physeal displacement (Fig. 21-91, A and B). An antalgic and abductor lurch gait is usually apparent. A flexion contracture may be noted, and range of hip motion tends to be diminished in all planes, particularly internal rotation. Slight shortening of the involved lower extremity is observed in some patients. Radiographic findings vary from a widened and radiolucent physis (preslip) to a frank deformity with displacement of the femoral head on the proximal femur posteriorly and inferiorly in relation to its normal counterpart (Fig. 21-91, C and D). The degree of slippage and deformity correlates with the extent of incongruity of the hip joint and the later development of degenerative change and painful symptoms. Prompt intervention to prevent further displacement is an important factor in preventing lifelong problems, and awareness of the condition, a high index of suspicion, and early recognition are key factors in improving prognosis. In patients with minimally or moderately displaced slips, stabilization of the slip by in situ pin fixation is indicated. In severe slips, especially those that have slipped acutely, pinning

may be the treatment of choice initially, but development of avascular changes secondary to disruption of the blood supply to the femoral head may occur and complicate the outcome. When the disease is recognized late and deformity is severe, proximal femoral osteotomy may be necessary. Children with unilateral slipped epiphyses must be monitored closely for signs of involvement of the opposite limb.

Femoral Anteversion Femoral anteversion may be viewed as a normal variation of lower extremity positioning in the developing child. In utero and at birth, the femoral neck sits in an anteverted position relative to that of the adult. During childhood it remodels to a position of slight anteversion and normal alignment of the lower extremities. In certain children, however, delayed rotational correction may result in persistent intoeing. An unsightly gait, kicking of the heels, and tripping on walking or running are frequent related complaints. There may be a history of sitting on the floor with knees bent and the lower legs turned outward in a reversed tailor position. In general, the condition is bilateral and is not associated with other musculoskeletal problems. On examination, the child is noted to stand with the thighs, knees, and feet all turned inward. An increase in internal rotation over external rotation is apparent on assessment of range of motion of the hip (Fig. 21-92). Radiographic findings are normal. No treatment is indicated, other than reassurance that the condition will correct with growth and instructions to avoid sitting in the predisposing position.

Genu Varum (Physiologic Bowleg) Genu varum, or bowleg, is usually a normal variation of lower extremity configuration, seen in the 1- to 3-year-old age group. It is generally recognized shortly after ambulation begins and may be associated with laxity of other joints and internal tibial

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D

Normal position of epiphysis Line drawn along axis of femoral neck should touch head Slipped epiphysis

B Figure 21-91  Slipped capital femoral epiphysis. A, This obese boy presented with a painful limp during early puberty. Note his reluctance to bear weight on the involved right leg. B, When he lies supine, the affected leg is positioned in external rotation because this minimizes discomfort. Attempts at motion produce pain in the acutely slipped epiphysis. C, In the anteroposterior radiograph the right femoral head is displaced medially in relation to the femoral neck as a result of epiphyseal separation. D, In the lateral view the femoral head is seen to be displaced posteriorly in relation to the femoral neck. A line drawn along the axis of the femoral neck should normally touch the head.

torsion. Examination reveals diffuse bowing of the lower extremities with an increased distance between the knees that is accentuated on standing (Fig. 21-93). Varus positioning of the heel with pronation of the feet may be noted on weight bearing. The child may walk with a waddling gait and kick the heels on running to clear the feet from the ground and avoid hitting the contralateral limb. Laxity of joint capsular structures may be noted with application of a reduction force. Radiographs of children with physiologic bowing show normal osseous and physeal development and may reveal a gentle symmetrical bowing of the femur and tibia. Although

there may be slight beaking of the medial metaphyses of the femur and tibia adjacent to the knee joint, there is no fragmentation of the epiphyses or irregularity of the growth plate, as is seen in Blount disease (see Fig. 21-96). Treatment is rarely indicated, as this condition resolves with growth; in fact, a valgus deformity of the knees may be noted later, at approximately 4 to 5 years of age. Casting, bracing, and corrective shoes are unnecessary, and there is no indication for surgery. Less commonly, genu varum is of pathologic origin. Con­ ditions such as rickets (see Chapter 6) or other metabolic

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A Figure 21-92  Femoral anteversion. A, The condition occurs bilaterally, and in the standing view, both legs appear to turn inward from the hip down. B, On assessment of range of motion, the degree of internal rotation of the hips is found to be greater than normal. (Courtesy Michael Sherlock, MD, Lutherville, Md.)

abnormalities, epiphyseal dysplasia, various forms of dwarfism, and pathologic growth disturbances such as Blount disease may be causative and can be diagnosed on the basis of radiographic findings if the diagnosis is not obvious clinically. Unilateral bowing is not a result of intrauterine positioning and should prompt investigation for an underlying disorder (Fig. 21-94).

Genu Valgum (Physiologic Knock-Knee) Genu valgum, or knock-knee, is a normal variation of lower extremity configuration, generally noted in children between 3 and 5 years of age. The phenomenon is part of the normal process of remodeling of the lower extremities during growth and development. It is more frequently seen in females and may be associated with ligamentous laxity. While standing, the child is noted to have an increased distance between the

feet when the medial aspects of the knees touch one another (Fig. 21-95). Not uncommonly, the child will place one knee behind the other in an attempt to get the feet together. In some cases, valgus alignment of the feet and a pes planus deformity may be noted. Radiographs reveal no osseous or physeal abnormalities, but accentuation of the angular deformity of the knee secondary to ligamentous laxity is seen on weightbearing views. One must rule out the possibility of an underlying metabolic condition such as rickets or renal disease. Treatment is generally not indicated, as the condition gradually corrects with time.

Blount Disease Blount disease is an isolated growth disturbance of the medial tibial epiphysis manifested as an angular varus deformity of the proximal tibia with apparent progressive genu varum.

Figure 21-93  Physiologic genu varum. A, The mild symmetrical bowing seen in this 1-year-old boy represents a normal variation of lower extremity configuration that occurs in toddlers; correction occurs with growth and remodeling. The bowing is diffuse and involves the upper and lower portions of the legs. B, This child has more severe physiologic bowing, which resulted in frequent tripping and a waddling gait. He also had associated ligamentous laxity and intoeing on the left.

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Figure 21-94  Pathologic genu varum. A, This 11-month-old child has a unilateral, right-sided bowleg deformity. When unilateral, genu varum is not a result of  intrauterine positioning and necessitates radiographs to determine the cause of the deformity. B, In this case the bowing was caused by a congenital pseudarthrosis of the tibia, a condition frequently associated with neurofibromatosis 1 (see Chapter 15).

A

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Unilateral and bilateral involvement are seen with nearly equal frequency. The etiology of this condition is unknown, although it appears to be more common in African Americans. It may represent a compression injury to the medial growth plate of the proximal tibia. On careful examination, a localized angular deformity of the proximal tibia is apparent (Fig. 21-96, A and B), in contrast to the diffuse bowing of the lower extremities seen in patients with physiologic bowleg. In general, there is no evidence of the ligamentous laxity commonly associated with physiologic bowing. Radiographs reveal fragmentation of the medial epiphysis of the tibia associated with beaking and loss of

Figure 21-95  Genu valgum. This 3 12 -year-old girl shows moderate knock-knee. Ligamentous laxity and mild pes planus are associated problems.

height in this region, as well as the characteristic angular deformity (Fig. 21-96, C). A satisfactory response to treatment depends on accurate diagnosis and early recognition, as bracing or surgical osteotomy with realignment of the leg may prevent further progression.

Osgood-Schlatter Disease Osgood-Schlatter disease is a traction apophysitis of the tibial tubercle that tends to develop during the adolescent growth spurt. It occurs somewhat more frequently in males than in females. It is thought that differential rates of growth in the osseous and soft tissue structures and stress on the apophyses produced by vigorous physical activity are contributing factors. Bilateral involvement is usual. Patients have a history of gradually increasing pain and swelling in the region of the tibial tubercle. Discomfort is accentuated by vigorous physical activity, kneeling, or crawling and is relieved by rest. On examination, a localized tender swelling is noted in the region of the tibial tubercle and patellar tendon (Fig. 21-97, A). The knee joint is otherwise normal on examination, with the exception that some patients show limitation of knee flexion with reproduction of their pain. Radiographs may reveal only soft tissue swelling in the region of the proximal tibial apophysis or irregularity of ossification of this structure (Fig. 21-97, B). In long-standing cases, frank fragmentation of the apophysis may be seen. The problem, although self-limited, typically persists for 6 to 24 months. If the condition is only occasionally bothersome and does not limit activities, treatment is unnecessary. Use of ibuprofen, as needed, for relieving pain and curtailing activities that produce pain are sufficient treatment for most patients. If severe pain and a limp are present, a short period of immobilization in a splint or cast may be beneficial. Steroid injection is contraindicated because this may cause deterio­ ration of the tendon and provides little in the way of longterm relief.

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Figure 21-96  Blount disease. A, This patient has a unilateral angular deformity of the proximal left tibia that gives the appearance of genu varum. B, Both proximal tibias are bowed in another patient as a result of fragmentation and loss of height of the medial epiphyses. In contrast with physiologic bowing, the thighs are straight. C, This radiograph shows the typical fragmentation, loss of height, and angular deformity or beaking of the medial portion of the proximal tibia.

Popliteal (Baker) Cyst Popliteal cysts occurring in childhood are encountered most commonly in children between 5 and 10 years of age and occur significantly more frequently in boys than in girls. They are located in the posteromedial aspect of the knee joint in the region of the semimembranosus tendon and medial gastrocnemius muscle belly. Pathologically, a fibrous tissue or synovial cyst filled with synovia-like fluid is seen. In contrast to those seen in adults, popliteal cysts in childhood generally do not communicate with the joint capsule but originate

A

Collapsed medial epiphysis Normal position of proximal tibia

instead beneath the semimembranosus tendon, presumably as a result of chronic irritation. On occasion vague pain is noted, but evaluation is usually sought because of a recently noted painless mass. On examination, a soft, nontender, cystic mass is found in the described location (Fig. 21-98, A). Range of motion of the joint is normal unless the cyst is particularly large, limiting flexion. The knee is otherwise normal, and radiographs show no osseous abnormality. An MRI clearly delineates the cyst and its position in relation to nearby structures (Fig. 21-98, B

B

Figure 21-97  Osgood-Schlatter disease. A, Localized swelling is evident in the region of the tibial tubercle. This is generally tender on palpation. The knee is otherwise normal on examination, with the possible exception of mild limitation of flexion. B, Irregularity and fragmentation of the tibial tubercle are seen in this radiograph. In less severe cases of shorter duration, soft tissue swelling or irregularity of ossification may be the only finding.

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C

Figure 21-98  Popliteal (Baker) cyst. A, A localized swelling appears in the region of the semimembranosus tendon. This may arise from the synovial lining of the semimembranosus bursa. B, Sagittal plane magnetic resonance imaging (MRI) from another child with a Baker cyst shows the posterior location. C, A transverse plane MRI demonstrates the posterior and medial position of cyst and its close relation to the gastrocnemius muscle.

and C). Popliteal cysts are benign and may resolve over time, although surgical excision is reasonable if desired.

Anterior Patellar Disorders Pain located in or around the patella is a frequent complaint, especially in the adolescent. Once thought to involve irregular changes in the articular cartilage of the patella and termed chondromalacia, the true sources of pain in this region are still not completely understood. Two primary causes for this group of symptoms have been identified, however. One is mechanical malalignment of the patellofemoral mechanism, either congenital or acquired. In such cases the patella does not track congruously in the femoral groove, and subsequent alignment problems or quadriceps atrophy can lead to increased stress on the tissues, producing pain. The second cause may relate to overuse of the patellofemoral joint, leading to chronic fatigue of the tissues, intrasubstance failure, and a painful inflammatory response. Onset of symptoms may be insidious or may abruptly follow trauma. The patient complains of diffuse aching behind the patella that is exacerbated by climbing stairs, pedaling a bicycle, or prolonged sitting. On examination the patella is found to be tender, and application of pressure over the patella with the knee slightly flexed elicits pain. In the case of mechanical malalignment, tenderness may be greatest on palpation of the lateral or medial edge of the patella near the facets. In overuse problems, tenderness may be noted either at the quadriceps attachment proximally or at the inferior pole where the infrapatellar tendon attaches. In either case, when the examiner holds a hand over the patella as the patient flexes and extends the knee, a grating sensation may be felt. Treatment is aimed at the underlying cause. If malalignment is the primary source of the problem, quadriceps strengthening exercises and avoidance of high mechanical loads such as deep knee bends and weight lifting may suffice. On occasion, surgical release of the retinaculum on the lateral side may be necessary. When overuse is causative, a reduction of activities to assist initiation of healing and oral administration of antiinflammatory agents followed by a stepwise return to normal activities is effective. Evaluation of training schedule and techniques and modifications where indicated may prevent recurrence.

Internal Tibial Torsion Internal tibial torsion is a nonpathologic variation in the normal development of the lower leg in children younger than the age of 5 years. It is a rotational deformity that is thought to result from internal molding of the foot and leg in utero. The child is usually brought for evaluation because of concern about prominent intoeing on walking and frequent tripping. On examination, the hips and knees are found to be normally aligned, with the patellas facing anteriorly, but the lower legs and feet are rotated inward. The lateral malleolus, which is normally positioned slightly posterior to the medial malleolus, may be in alignment with it or even anteriorly displaced, thus causing the ankle mortise to shift to a medially directed orientation, resulting in intoeing (Fig. 21-99). The rotational deformity can be detected by having the patient lie prone on the examining table with the knees flexed (see Fig. 21-14, E). Radiographs reveal no osseous abnormalities. Treatment is seldom indicated; remodeling gradually corrects the condition as the child grows and develops. Children who have a habit of sitting on their feet on the floor may inhibit the normal remodeling process and should be discouraged from doing so. Bracing and special shoes have little effect and are not recommended.

Congenital Clubfoot Congenital clubfoot (talipes equinovarus) is a teratogenic deformity of the foot that is readily apparent at birth. It is seen more frequently in male infants than female infants and has an incidence of 1 in 1000 live births. Etiology is probably multifactorial. Findings from familial incidence studies point toward an underlying genetic predisposition. Abnormal intrauterine positioning and pressure at a critical point in development may contribute as well. Neural, muscular, and osseous abnormalities are other proposed predisposing conditions. A near equal frequency of unilateral and bilateral involvement exists. The deformity is characterized by three primary components: (1) the entire foot is positioned in plantar flexion (equinus); (2) the hindfoot is maintained in a position of fixed inversion (varus); and (3) the forefoot exhibits an adductus deformity, often combined with supination (Fig. 21-100, A-C). In the newborn period the deformity may be passively

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Figure 21-99  Internal tibial torsion. A, On weight bearing the hip, thigh, and knee are normally oriented and the patella faces anteriorly, but the lower leg and foot turn inward. The deformity results in prominent intoeing on walking, which may cause the child to trip frequently. B, In this view of the child while sitting, it is easy to appreciate that the lateral malleolus is positioned anteriorly to the medial malleolus. This shifts the ankle mortise and foot to a medially oriented position.

correctable to some extent. With time, however, deformities become more fixed as a result of contracture of soft tissue structures. The primary pathologic finding is that of a rotational deformity of the subtalar joint with the os calcis internally rotated beneath the talus, producing the characteristic varus deformity of the heel and mechanically creating a block to dorsiflexion of the foot. The navicular bone is in a medially displaced position on the head or neck of the talus, producing the characteristic adductus deformity of the forefoot (Fig. 21-100, D and E). Contractures of the Achilles and posterior tibial tendons and of the medial ankle and subtalar joint capsules appear to be secondary factors that contribute to the difficulty in obtaining anatomic reduction. Congenital absence of certain tendinous structures may be found in rare instances. A small atrophic-appearing calf is frequently noted without pathologic change in its osseous or soft tissue structures. The typical congenital clubfoot deformity must be differentiated from similar foot deformities secondary to neurologic imbalance resulting from myelodysplasia, spinal cord tethering, or degenerative neurologic conditions. On occasion, tibial hemimelia with deficiency of this bone may present a similar clinical picture. The condition should not be confused with the nonteratogenic occurrence of isolated metatarsus adductus. Its association with arthrogryposis and congenital dislocation of the hips should also be kept in mind. The roentgenographic difference between a clubfoot and a normal foot can be appreciated by comparing Figure 21-100, D and E with Figure 21-101, A and B. Early treatment consists of attempts at manipulation and serial casting or cast wedging with progressive correction. When the child is seen late or closed treatment is unsuccessful, open reduction and surgical release of the contracted soft tissues is indicated. In general, these measures should be undertaken before the age at which walking is expected in order to prevent the deformity from impeding the child’s motor and social development.

Metatarsus Adductus Metatarsus adductus (metatarsus varus) is a deformity of the forefoot in which the metatarsals are deviated medially. The condition is probably the result of intrauterine molding and is

usually bilateral. Other than the deviation, there are no pathologic changes in the structures of the foot. There is a wide spectrum of severity and resultant intoeing, but otherwise patients are asymptomatic. Clinically it should be distinguished from the more severe and complex deformity of congenital clubfoot, as it carries a more benign prognosis. Examination is best performed with the foot braced against a flat surface or with the patient standing. With the hindfoot and midfoot positioned straight, the affected forefoot assumes a medially deviated or varus position (Fig. 21-102, A and B). A skin crease may be located over the medial aspect of the longitudinal arch. When mild, the deviation may be passively correctable by the physician or actively correctable by the patient. Active correction may be demonstrated by gentle stroking of the foot, stimulating the peroneal muscles to contract. In more severe cases, the deviation may be only partially corrected by these maneuvers. Some patients have an associated internal tibial torsion deformity, but their calf muscle is normal in size. Radiographs demonstrate the abnormal deviation of the metatarsals medially without other osseous abnormalities (Fig. 21-102, C). Treatment depends on the severity of the condition. In mild cases, passive manipulation of the deformity by the mother several times a day may suffice. In moderate cases, a combination of manipulative stretching and reverse or straight-last shoes may be indicated. More severe cases, which are not passively correctable and which exhibit a prominent deformity and skin crease, necessitate serial manipulation and casting for 6 to 8 weeks. If the deformity persists despite these measures, surgical intervention may be required. Treatment should be undertaken before anticipated ambulation so as to prevent impairment of the patient’s motor and social development.

Metatarsus Primus Varus (Adductus) Metatarsus primus varus is a congenital and often hereditary foot deformity characterized by a broad forefoot with medial deviation of the first metatarsal. It is significantly more frequent in females than in males. Examination reveals a wide forefoot with medial deviation of the first metatarsal and normal orientation of the second through fifth metatarsals. Often an associated varus deviation of the great toe exists (Fig. 21-103, A). Over time, a secondary hallux valgus deformity and

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D

Line through talus should point to first metatarsal

B

Line through os calcis should point to fifth metatarsal “Stacking” of talus and os calcis

C

Talus Abnormal “parallelism” of axis lines through talus and os calcis

E

Normal position of talus Os calcis

Figure 21-100  Clubfoot. This deformity has three primary components. A, The foot is positioned in plantar flexion (equinus). Note the pathologic skin creases over the heel and arch. B, The heels or hindfeet are fixed in inversion (varus). C, The forefeet are fixed in an adducted and supinated position. D, In the anteroposterior radiograph, the talus overlies the os calcis (stacking) and the forefoot is adducted. A line drawn through the longitudinal axis of the talus normally aligns with the first metatarsal, and one drawn through the axis of the os calcis normally aligns with the fifth metatarsal. E, This lateral radiograph shows that the foot is in equinus and the axes of the talus and os calcis are nearly parallel. They normally intersect at an approximately 45-degree angle. (Compare with normal shown in Fig. 21-101.)

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Figure 21-101  Normal foot. Anteroposterior (A) and lateral (B) views of the foot of a slightly older child show the normal orientation of the tarsal bones, as compared with the findings in congenital clubfoot (shown in Fig. 21-100, D and E).

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C

Normal metatarsal orientation

B Figure 21-102  Metatarsus adductus. A, In this view from above, the forefeet are seen to be deviated medially, but otherwise the feet are normal. B, When the feet are viewed from the plantar aspect, rounding of the lateral border can be appreciated, along with a crease on the medial side. C, In the anteroposterior radiograph, all five metatarsals can be seen to be deviated medially with respect to the remainder of the foot; otherwise, the bony structures are normal. The relationship of the talus and os calcis is normal, unlike the relationship in clubfoot.

Medial deviation of metatarsals

Talus Os calcis

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Figure 21-103  Metatarsus primus varus. A, The first metatarsal and great toe are deviated medially, and the forefoot is broad. The other metatarsals are normally oriented. B, Bilateral metatarsus primus varus with hallux valgus. The forefeet are broad, and the great toes deviate laterally. (A, Courtesy Michael Sherlock, MD, Lutherville, Md.)

bunion may be produced by the abnormal forces exerted on the great toe with weight bearing and ambulation (see Fig. 21-103, B). The heel may seem narrow, but this is more apparent than real. Pronation of the forefoot may be present as well. Radiographs confirm the diagnosis by revealing an increased space between the first and second metatarsals and a large first intermetatarsal angle. The first ray through the tarsometatarsal joint may be medially oriented, forming the basis for the deformity. In mild cases no treatment may be necessary. In moderate or severe cases, foot strain symptoms, bunion pain, and shoefitting problems may necessitate treatment. Surgical osteotomy of the medial cuneiform or first metatarsal in conjunction with bunion correction can satisfactorily eliminate the deformity.

Congenital Vertical Talus Congenital vertical talus is a teratogenic anomaly of the foot noted at birth and characterized by a severe flatfoot deformity. The underlying pathology is a malorientation of the talus, which assumes a more vertical position than normal. The adjacent navicular is dorsally displaced, articulating with the superior aspect of the neck of the talus and causing the forefoot to assume a dorsiflexed and valgus orientation. In effect, these deformities are the opposite of those seen in congenital clubfoot. The etiology of this condition is unknown, although it may be associated with other musculoskeletal or organ system anomalies. Pathologic analysis reveals normal development of the bones but an abnormal relationship. As in clubfoot, associated soft tissue contractures may occur, particularly of the Achilles tendon, toe extensors, and anterior tibial tendon. Clinically the deformity is recognizable as a calcaneovalgus foot with loss of the arch or, on some occasions, a rocker bottom–type foot with a prominent heel (Fig. 21-104, A and B). The head of the talus is often palpable on the medial plantar aspect of the midfoot. The deformity is usually fixed, but passive correction may be obtainable in some instances, particularly if the talus is oriented in a less severe oblique position. Radiographs mirror the clinical appearance, showing a vertical orientation of the talus, a calcaneus deformity of the os calcis, and valgus orientation of the forefoot (Fig. 21-104, C; see also Fig. 21-101, B for a normal comparison). Initially, attempts at manipulation and serial casting are indicated. However, if this is unsuccessful, as is often the case, surgery may be necessary.

Calcaneovalgus Foot Deformity Physiologic calcaneovalgus is another deformity of the foot thought to result from intrauterine molding. It is normally a supple deformity that is passively correctable, in contrast with the rigid foot characteristic of congenital vertical talus. The condition is evident at birth and at times is associated with a contralateral metatarsus adductus. No underlying pathologic changes occur in the foot, and no osseous deformities other than the positional one exist. On examination, the foot is noted to be held in a dorsiflexed and everted position with some loss of the normal longitudinal arch (Fig. 21-105). Tightness of the anterior tibial tendon and laxity of the Achilles tendon may be noted in association with the positional deformity. Radiographs reveal no pathologic bony changes. Nonoperative treatment is usually successful and consists of serial casting to eliminate the deformity. Later, wearing shoes with inner heel wedges and longitudinal arch supports may help prevent recurrence and improve ambulation.

Pes Planus (Flatfoot) Pes planus, or physiologic flatfoot, is an extremely common condition to which there is a familial predisposition. It is characterized by laxity of the soft tissues of the foot resulting in loss of the normal longitudinal arch, with pronation or eversion of the forefoot and valgus or lateral orientation of the heel (Fig. 21-106). Secondary tightness of the Achilles tendon may exist. In general, the condition is asymptomatic in children, and evaluation is sought primarily because of parental concern about the appearance of the foot and the possibility of future problems. On occasion, affected patients report discomfort after long walks or running. On examination the characteristic appearance is easy to recognize, and laxity of other joints, particularly the thumb, elbow, and knee, may be noted. Weight-bearing radiographs reveal loss of the normal longitudinal arch without osseous abnormality. Treatment is unnecessary if the condition is asymptomatic. Corrective shoes with arch supports are of no use unless symptoms of foot strain are present.

Accessory Tarsal Navicular An accessory tarsal navicular results from formation of a separate ossification center on the medial aspect of the developing tarsal navicular at the insertion site of the posterior tibial

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C Figure 21-104  Congenital vertical talus. A, The normal longitudinal arch of the foot is absent; a rocker bottom–type deformity is present; and the forefoot is fixed in dorsiflexion, which is even more evident in (B). C, On this radiograph the talus is oriented vertically, and its position does not change with flexion or extension of the ankle. The calcaneus is also fixed in equinus position, resulting in a rigid flatfoot deformity (see Fig. 21-101, B for comparison).

tendon. The condition is not uncommon and is usually associated with a pes planus deformity. Clinically, patients exhibit a bony prominence on the medial aspect of the foot that tends to rub on the shoe, thus producing a painful bursa (Fig. 21-107, A). Radiographs reveal either a separate ossification center or bone medial to the parent navicular, or a medial projection of the navicular when fusion has occurred (Fig. 21-107, B and C). Cast immobilization may be helpful in acutely painful cases. Long-term improvement can be obtained

by wearing soft, supportive shoes with longitudinal arches and a medial heel wedge. Recalcitrant symptoms warrant surgical intervention.

Ganglion of the Foot A ganglion, or synovial cyst, may develop on the foot. These benign masses are similar to those more commonly seen on the wrist. They originate from outpouchings of a joint capsule or tendon sheath. Trauma may be a predisposing factor in their formation. They are most commonly found on the dorsal or medial aspect of the foot. The mass is soft and nontender and transilluminates. It does not produce symptoms, other than difficulty in fitting shoes (Fig. 21-108). If this occurs, surgical excision may be indicated.

Cavus Feet and Claw Toes

Figure 21-105  Calcaneovalgus foot deformity. The right foot is held in a position of eversion and dorsiflexion. This deformity is supple and thus is passively correctable. The contralateral foot exhibits a metatarsus adductus deformity, giving the feet a “windswept” appearance.

Cavus feet and claw toes are deformities produced by a muscular imbalance within the foot. Although they may occur for unknown reasons, often they are manifestations of an underlying neurologic disorder such as Charcot-Marie-Tooth disease, Friedreich ataxia, or spinal cord tethering (see Chapter 15). These conditions should be considered in evaluating each patient presenting with these deformities, particularly if the problem is unilateral. Cavus feet exhibit a high arch with a varus or inversion deformity of the heel. Usually the metatarsal heads appear prominent on the plantar aspect of the foot (Fig. 21-109). This phenomenon is accentuated by overlying callosities that develop as a result of abnormal weight bearing. With claw toes, the metatarsophalangeal joints are held in

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B

A

Figure 21-106  Pes planus (flatfoot). A, Laxity of the soft tissue structures of the foot results in a loss of the normal longitudinal arch and pronation or eversion of the forefoot. B, Viewed from behind, the characteristic eversion of the heels is appreciated more readily.

extension with the PIP joints in flexion and the distal joint in the neutral or slightly flexed position (Fig. 21-110). Calluses tend to develop over the PIP joints as the result of rubbing against shoes. Neurologic examination may reveal motor weakness, most often involving the anterior tibial, toe extensor, and peroneal muscles. Logical treatment necessitates identifying and treating the underlying pathologic condition when possible. Nonsurgical measures for managing the deformities and ameliorating the symptoms consist of the wearing of customized shoes and use of a metatarsal bar to relieve pressure on the metatarsal heads and to correct the extension deformities at the base of the toes. However, surgical correction is often necessary.

palsy, spina bifida, osteogenesis imperfecta, and arthrogryposis— are discussed in this section.

Skeletal Dysplasias Overview Skeletal dysplasias are a heterogeneous group of disorders characterized by abnormalities of bone and cartilage growth, development, and differentiation that often result in short stature (dwarfism), as well as orthopedic and medical complications. Despite the more than 300 types of identified skeletal dysplasias, many individuals with a presumed skeletal dysplasia remain unclassified. Whereas some dysplasias may be lethal at birth (e.g., type IIA osteogenesis imperfecta, thanatophoric dysplasia, and a number of short-rib syndromes), many are not and even some patients with rare, presumed lethal dysplasias may survive into adulthood. Although skeletal dysplasias comprise a heterogeneous group of disorders, two major categories exist: osteochondrodysplasia and dysostosis. The osteochondrodysplasias result from abnormal growth and development of bone and/or cartilage. These are progressive and generalized disorders and are the

GENERALIZED MUSCULOSKELETAL DISORDERS Numerous systemic disorders have significant musculoskeletal manifestations. Those relating to genetic, endocrine, collagen vascular, neurologic, and hematologic problems are discussed in their respective chapters. Five conditions with major musculoskeletal manifestations—skeletal dysplasias, cerebral

C

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Figure 21-107  Accessory tarsal navicular. A, A bony prominence produced by the formation of a separate ossification center of the tarsal navicular is present over the medial aspect of the midfoot. It is covered by a painful bursa, produced by chronic rubbing of the prominence against the medial side of the patient’s shoe. Patients with this problem usually have a pes planus deformity as well. B and C, Anteroposterior and lateral radiographs of the foot demonstrate the accessory navicular. The posterior tibialis tendon attaches to the small accessory bone and may contribute to continued irritability and tenderness in this area. Similar extra ossicles are often present asymptomatically on the opposite foot.

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Figure 21-108  Ganglion of the foot. A prominent soft tissue mass is present over the medial aspect of the midfoot. This represents a ganglion of the posterior tibial tendon sheath.

focus of this section. Dysostosis is a disorder of an individual bone, either singly or in combination (e.g., skull and fingers). Examples include poly/syndactyly and craniosynostoses. There are 33 groups of osteochondrodysplasia and 3 categories of dysostosis in the current classification system. Table 21-7 shows a list of common skeletal dysplasias, osteochondrodysplasias, and common lethal skeletal dysplasias that may be encountered. Although individual skeletal dysplasias are rare, as a group they are relatively common. The incidence of all

A

Figure 21-110  Unilateral claw toes. This child with a tethered spinal cord has unilateral claw toe deformities. The metatarsophalangeal joints are held in extension while the proximal interphalangeal joints are fixed in flexion.

skeletal dysplasia is approximately 1 case per 4000 to 5000 births. A Danish study found that skeletal dysplasias represented 9% of the Danish population and that the incidence of congenital generalized skeletal dysplasias at birth was found to be 75.7 per 100,000 births. Because a proportion of skeletal dysplasias are lethal, the prevalence in the general population in that study was found to be much lower (33 per 100,000 population). Thanatophoric dysplasia (Fig. 21-111) and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is usually regarded as the most common nonlethal skeletal dysplasia worldwide. Diagnosis Accurate diagnosis can be important for genetic counseling regarding future pregnancies and is helpful in predicting the clinical course as well as in aiding in treatment strategies for complications. Diagnosis of specific skeletal dysplasias can be challenging because of limited availability of genetic testing. Often diagnoses are made on the basis of distinctive radiographic and physical findings. In addition, when growth halts after puberty, it is difficult to distinguish radiographically between the types of skeletal dysplasias, making it important to make a diagnosis as early as possible. Because diagnosis often relies on radiographic findings, it is important to obtain a skeletal survey of any infant or child in whom a dysplasia is suspected. Prenatal detection of a skeletal dysplasia is important as it determines the obstetric and perinatal management of an affected fetus. Because up to 30% of skeletal dysplasias can

Table 21-7

B Figure 21-109  Bilateral cavus feet. A, The feet are inverted and have high arches. The deformity is often a feature of neuromuscular disorders, as in this case where it is the result of Charcot-Marie-Tooth disease. B, In addition to the high arches and varus (inverted) heels seen in the view of the plantar surface, the prominence of the metatarsal head region is apparent. Callosities have developed over the lateral borders of the feet as a result of abnormal weight bearing.

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Skeletal Dysplasias

Nonlethal Skeletal Dysplasias

Lethal Skeletal Dysplasias

Achondroplasia—most common Hypochondroplasia Pseudoachondroplasia Diastrophic dysplasia Spondyloepiphyseal dysplasia Ellis–van Creveld syndrome Cartilage hair hypoplasia Metatropic dysplasia Multiple epiphyseal dysplasia Kniest dysplasia Acromesomelic dysplasia Larson syndrome Jarcho-Levin syndrome

Thanatophoric syndrome—most common Achondrogenesis Homozygous achondroplasia Chondrodysplasia punctata (recessive form) Camptomelic dysplasia (sometimes) Congenital lethal hypophosphatasia Perinatal lethal type of osteogenesis imperfecta Short-rib polydactyly syndromes

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Figure 21-111  Thanatophoric dysplasia. A, Chest and abdomen radiograph showing newborn with lethal thanatophoric dysplasia. Note the severe pulmonary hypoplasia and spinal abnormalities. B, Postmortem photo of a newborn who died of asphyxia due to lethal pulmonary hypoplasia, in turn due to thanatophoric dysplasia.

be lethal, accurate diagnosis is imperative for decision-making regarding possible termination. Unfortunately, prenatal diagnosis of specific skeletal dysplasias can be even more challenging than postnatal diagnosis. Factors that lead to difficulty in diagnosis include the large number of skeletal dysplasias, their phenotypic variability and overlapping features, the lack of precise genetic diagnoses for many disorders, the inability of prenatal ultrasonography to provide a detailed view, and variability in the time at which findings manifest for some skeletal dysplasias. Prenatal ultrasound of a suspected skeletal dysplasia involves systematic imaging of the long bones, thorax, hands and feet, skull, spine, and pelvis. Evaluation of thoracic dimensions revealing a hypoplastic thorax is suggestive of severe or lethal skeletal dysplasias. This leads to pulmonary hypoplasia and is a frequent cause of death in patients within the first year of life. The mainstay of prenatal diagnosis remains two-dimensional ultrasound, but it has a sensitivity of only 60%. Assessment of the fetus by three-dimensional ultrasonography improves diagnostic accuracy, because additional phenotypic features may be identified. The precise diagnosis of a specific dysplasia is often difficult prenatally even with accurate imaging, because of variable phenotypic presentations; the variability in the time at which they manifest; and, often, the lack of precise molecular diagnosis. Although the radiologist plays a major role in making an accurate diagnosis, specialists in other disciplines, such as medical genetics, obstetrics, and neonatology, may make valuable contributions to the diagnosis and clinical management. After birth, a skeletal survey is imperative in the evaluation of a child with a skeletal dysplasia. Certain characteristics that are critical for diagnosis are present only in children, because of their skeletal immaturity. The epiphyseal characteristics of affected children can be pathognomonic of specific disorders, such as the anterior tongue–like protrusion of the spine in pseudoachondroplasia. However, many of these characteristics will disappear with skeletal maturity. Although specific skeletal abnormalities can be identified radiographically, most skeletal dysplasias are diagnosed by careful physical examination. Clues in the physical examination, such as abnormalities in limbs, spine, trunk, and facial features, help to differentiate types on the basis of phenotypic

features. Findings include abnormalities of the limbs, spine, and trunk. Abnormalities of the limbs include rhizomelic shortening (short proximal segments such as humerus or femur), mesomelic shortening (short middle segments such as radius, ulna, tibia, fibula), acromelic shortening (short distal segments such as metacarpals or phalanges), acro­ mesomelic shortening (short middle and distal segments such as forearms and hands), and micromelia (shortening of extremities involving entire limb). Examples of some of the skeletal dysplasias correlated with specific physical examination findings are listed in Table 21-8. Although the molecular basis is known for some dysplasias, a working diagnosis based on clinical and radiographic findings may better guide the use of existing molecular testing. Genetics There has been a recent explosion of knowledge regarding the genetic basis of many skeletal dysplasias. The need for specific genetic tests arises from the complex phenotypes and individual variations that occur according to age, treatment, and Table 21-8

Limb Abnormalities Seen in the Skeletal Dysplasias

Limb Abnormality

Examples

Rhizomelia (shortening of proximal limb)

Achondroplasia, hypochondroplasia, chondrodysplasia punctata, metaphyseal dysplasia, spondyloepiphyseal dysplasia (SED) congenita, thanatophoric dysplasia, atelosteogenesis, and diastrophic dysplasia Langer and Nievergelt types of mesomelic dysplasias, Robinow syndrome, and Reinhardt syndrome Acrodysostosis and peripheral dysostosis

Mesomelia (shortening of middle limb segments) Acromelia (shortening of distal limb segments) Acromesomelia (shortening of middle and distal limb segments) Micromelia (shortening of entire limb)

Acromesomelic dysplasia

Achondrogenesis, fibrochondrogenesis, Kniest dysplasia, dyssegmental dysplasia, and Roberts syndrome

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Table 21-9

Common Genes Associated with the Skeletal Dysplasias

Skeletal Dysplasia

Gene Mutation

Achondroplasia, thanatophoric dysplasia Pseudoachondroplasia

Fibroblast growth factor receptor gene-3 (FGFR3) Cartilage oligomeric protein gene (COMP) Diastrophic dysplasia sulfate transporter gene (DTDST) Collagen 2A (COL2A1)

Diastrophic dysplasia Spondyloepiphyseal dysplasia congenita Camptomelic dysplasia

SRY (sex-determining region Y)-box 9 protein (SOX9)

environment. The genes responsible for skeletal dysplasia have been identified in more than 150 diseases (Table 21-9 lists some common skeletal dysplasias with their respective genes). Almost all of the skeletal dysplasias are the result of single gene mutations. Up to 80% of skeletal dysplasias are the result of spontaneous mutations with no prior family history. However, almost all are subsequently inheritable in an autosomal dominant manner with few exceptions. Specific Skeletal Dysplasias Achondroplasia Achondroplasia is the most common of all the skeletal dysplasias, with an estimated incidence of 1 per 10,000 live births. It is caused by a mutation in the fibroblast growth

factor receptor-3 gene (FGFR3), found on the short arm of chromosome 4 (4p16.3). FGFR3 is one of many fibroblast growth factors involved in skeletal development. Although achondroplasia is an autosomal dominant disorder, 75% of new diagnoses are due to de novo spontaneous mutations. Physical examination findings in persons with achondroplasia include disproportionate short stature with rhizomelia (Figure 21-112). Typical facial features include a flattened nasal bridge, upturned nose, protruding jaw, deep-set eyes, frontal bossing, and midface hypoplasia. Most children with achondroplasia have macrocephaly. Because infants and children are also at risk of hydrocephalus, occipital–frontal circumference should be monitored, using American Academy of Pediatrics growth charts. Children with achondroplasia have normal intelligence and development with the exception of delayed motor milestones. They are at risk for complications including otitis media, obstructive sleep apnea, hydrocephalus due to foramen magnum stenosis, thoracolumbar kyphosis, and bowing of the lower limbs that may necessitate surgical repair. Diastrophic Dysplasia Diastrophic dysplasia is one of the few skeletal dysplasias inherited in an autosomal recessive manner. It results from a mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) located on chromosome 5. The mutation results in deficient uptake of sulfur by chondrocytes, resulting in abnormal cartilage. It is characterized by short limb dwarfism, severe joint deformities, kyphoscoliosis, clubbed feet, an abducted “hitchhiker’s” thumb, and characteristic malformed

Figure 21-112  Achondroplasia. A, Radiograph of the femur in an infant with achondroplasia. The proximal ends of the femurs are relatively clublike with metaphyseal flaring and rhizomelic shortening of the lower extremities. B, Radiograph of the hand, showing shortened metacarpals and phalanges. C, Radiograph of the spine, showing thoracic lumbar kyphoscoliosis. D, A 4-month-old female with distinctive facial features: upturned nose, flat nasal bridge, and large forehead.

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Figure 21-113  Diastrophic dysplasia. A, A 6-month-old female with diastrophic dysplasia showing characteristic facial features of a long, full face; broad forehead; and prominent cheeks and perioral fullness. B, Hand showing characteristic, abnormally positioned or “hitchhiker’s” thumb. C, Lower extremities showing bilateral clubfeet. D, Ear showing malformed pinna; this is called a “cauliflower ear” because of the blister-like sacs filled with fluid on the upper part of the ear. These swollen sacs will drain naturally, but most often leave a misshapen upper ear.

pinnae of the ears (Fig. 21-113). Persons with diastrophic dysplasia have normal intelligence, but orthopedic complications due to joint contractures and dislocations can lead to severe osteoarthritis and disability. Pseudoachondroplasia Pseudoachondroplasia is a skeletal dysplasia inherited in an autosomal dominant manner. It results from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Pseudoachondroplasia is often not discovered until a child begins to walk; difficulties with walking or a waddling gait lead to the diagnosis. Because short stature is often not detected until 2 to 3 years after birth (because initial growth velocity is within normal limits), it should be included as a potential diagnosis in the workup of the short-statured child. Children usually exhibit marked short stature and deformity of the legs, short fingers, loose joints, and significant ligamentous laxity. Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal dysplasia congenita (SEDc) is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, which is responsible for making a protein that forms type II collagen, found in cartilage and in the vitreous

humor. Persons born with SEDc have short stature from birth, with a very short trunk and neck and shortened limbs; and they sometimes have cleft palate and clubfeet. Severe orthopedic complications are common throughout childhood, including cervical spine instability necessitating surgical fusion, scoliosis, hip dysplasia, knock-knee deformity, and osteoarthritis as early as the teenage years. SEDc may also be associated with vision problems (myopia and retinal detachment) and hearing loss (sensorineural). Complications Each dysplasia has unique characteristics, making generalizations about medical and surgical complications difficult. Treatments for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, joint degenerative disease, and long bone deformity. The following sections list general types of medical and surgical complications that are experienced by children with skeletal dysplasias. Neurologic Complications Hydrocephalus is a common complication in infants and children with achondroplasia. This results from poor cerebrospinal fluid drainage, due primarily to foramen magnum stenosis.

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Screening should include careful neurologic examinations at every well-child visit, regular occipital–frontal circumference measurements based on achondroplasia growth charts, head ultrasound at birth and bimonthly until 6 months, and head CT or MRI for evaluation between 6 months and 1 year. Because an enlarged head is normal in achondroplastic children, pediatricians can use a special head circumference growth chart to distinguish between normal growth and possible hydrocephalus. Treatment for hydrocephalus is surgical, including decompression surgery and placement of a ventriculoperitoneal shunt. Clinical symptoms of hydrocephalus and foramen magnum stenosis include brisk reflexes, numbness, weakness, difficulty walking, loss of bowel and bladder control, and central sleep apnea. This complication can be a cause of sudden death in the first year of life. In the neonatal period it is important to monitor the cervical spine for C1-C2 instability due to odontoid hypoplasia and ligamentous laxity. Although common in many skeletal dysplasias such as spondyloepiphyseal dysplasia congenita and pseudoachondroplasia, it is not found in achondroplasia. All children at risk for having a skeletal dysplasia should have cervical spine x-rays and/or undergo cervical spine MRI. Screening should be performed within the first 6 months of life and then yearly as indicated. Treatment involves surgical fusion of C1-C2 to prevent slippage of vertebrae and subsequent death or paralysis. Lumbar–sacral stenosis can be a common complication for adults with achondroplasia. Progressive narrowing of the spinal canal in the lumbar and sacral regions can lead to pain, difficulty in walking, loss of bowel and bladder control, and ultimately paralysis. The risk of lumbar–sacral stenosis can be lessened by providing adequate support to infants in the first year of life who exhibit significant kyphosis. Recent evidence suggests that counseling families on selective bracing and prohibiting unsupported sitting in the first 18 months of life can prevent fixed lumbar lordosis and reduce to zero the risk for severe lumbar–sacral stenosis requiring surgery later in adulthood. This finding demonstrates the positive impact of anticipatory guidance and monitoring early in life for these patients. Orthopedic Complications There are a variety of orthopedic complications seen with skeletal dysplasias. One of the more common and more troublesome adult sequelae is premature and severe osteoarthritis that can develop as early as adolescence. Patients with dysplasias with epiphyseal involvement (e.g., spondyloepiphyseal dysplasia congenita) are especially at risk for osteoarthritis and should avoid long distance running, obesity, and highimpact activities. Another complication is scoliosis in childhood. Progression is more rapid than scoliosis in patients without skeletal dysplasia, and may result in mechanical, neurologic, and heart/lung complications that necessitate bracing or early surgical repair. Valgus and varus deformities are also common in many of the skeletal dysplasias, due to irregular bone growth. Surgical treatment may be indicated to preserve function and ameliorate pain. Other Complications Obstructive sleep apnea is common in many skeletal dysplasias, but especially achondroplasia. The condition arises from small bony air passages of the midface or a crowded hypopharynx, resulting from a tiny jaw or thickened soft tissues. Symptoms include snoring, apnea, and sweating during sleep; failure to thrive; and developmental delay. Treatment includes tonsillectomy and adenoidectomy, continuous positive airway pressure, supplemental oxygen, or a tracheostomy in severe cases. Severe cases may require oral/maxillofacial

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reconstructive surgery. Eustachian tube dysfunction due to abnormal craniofacial shape, midface hypoplasia, and shortened eustachian tubes is common in many forms of dwarfism, but most often achondroplasia, resulting in recurrent otitis media. Children should have ear examinations with every upper respiratory infection to prevent chronic otitis media, hearing loss, and speech delay. Treatment may include tympanostomy tube placement, tonsillectomy and adenoidectomy, and repair of cleft palate when present. Development for Children with Skeletal Dysplasias Growth should be monitored using specialized growth charts for height, weight, and head circumference. Special growth charts now exist for achondroplasia, spondyloepiphyseal dysplasia, diastrophic dysplasia, and pseudoachondroplasia. Children with skeletal dysplasias frequently have delayed motor milestones, but typically have normal cognitive, social, and language development.

Cerebral Palsy Cerebral palsy refers to a group of fixed, nonprogressive neurologic syndromes resulting from static lesions of the developing CNS. Depending on the timing of injury, signs may be present at birth or they may become evident in infancy or early childhood. The primary cerebral insult may be intrauterine or perinatal infection; a prenatal or perinatal vascular accident; anoxia due to placental insufficiency, difficult delivery, or neonatal pulmonary disease; hyperbilirubinemia resulting in kernicterus; or neonatal hypoglycemia. After the newborn period, CNS infections, trauma, and vascular accidents may, when severe, produce the disorder. Abnormal motor function is the most obvious result and may take the form of a spastic neuromuscular disorder (65% of cases), athetosis (25%), or rigidity and/or ataxic neuromuscular dysfunction (10%). Sensory deficits and intellectual impairment are common, and there is a significant incidence of associated seizure disorders. Because of the number and variety of possible insulting factors, each of which has its own spectrum of severity, there is a broad range in the location and extent of neural damage, and thus in the degree of functional impairment. Patients with severe afflictions generally have early evidence of gross neuromuscular dysfunction. Those with milder involvement may have subtler abnormalities and may be diagnosed only after they fail to achieve normal developmental and motor milestones. Patterns of the affliction include involvement of one or two limbs (monoplegia or hemiplegia), of both lower extremities (diplegia), of all four extremities (quadriplegia) (Fig. 21-114), or of all limbs with poor trunk and head control (pentaplegia). Those patients with a spastic disorder exhibit flexion contractures of the involved limbs, hyperreflexia, and spasticity; those with athetosis exhibit the characteristic movement disorder. Mixed involvement is apparent in some patients. Neurologic examination often reveals the persistence of primitive reflexes. Patients with severe involvement that inhibits sitting and ambulation suffer disuse atrophy of involved muscles and skeletal demineralization that increases their risk of pathologic fractures (see Chapter 6). Although cerebral palsy is by definition a nonprogressive neurologic condition, the orthopedic manifestations of the condition are frequently progressive. The progression of orthopedic problems is related to the severity and distribution of spasticity in the child. Increased spasticity in certain muscle groups leads to shortening and contractures in muscles and tendons, imbalance of mechanical forces across a joint or extremity, and eventual bone and joint deformity secondary to the Hueter-Volkmann principle. This principle states that

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nonambulatory may be significant because the spasticity of their muscles generates forces across the hip joints that are equivalent to those of ambulatory children. Treatment goals in cerebral palsy are to prevent musculoskeletal deformity, to improve function and reduce pain, and to attempt to “balance” the muscle forces across the bones and joints in those children with severe spasticity. Administration of medications that reduce muscle spasm, and carefully timed and selected surgical procedures, are helpful. Oral baclofen can also be helpful in reducing spasticity, ameliorating the pain due to associated muscle spasm, and preventing contractures and bone and joint deformity. In cases in which the maximal oral dosage is not sufficient to control spasticity or produces unwanted side effects, consideration should be given to intrathecal baclofen administration via a baclofen pump, as delivery of the drug directly to the spinal cord/CNS does not produce the systemic effects seen with the oral route. Botulinum toxin injections into spastic muscles can also be used to reduce spasm, and these injections can be given in an outpatient clinic. The effect on the muscle can last for up to 3 months. In evaluating patients with apparent cerebral palsy, one must be careful to rule out a progressive neurologic disorder such as intracranial or spinal cord neoplasia, degenerative neurologic conditions, and tethering of the spinal cord. Spasticity of the extremities can be a physical finding indicative of upper motor neuron pathology from numerous etiologies. Optimal treatment of cerebral palsy necessitates a team approach. In addition to general pediatric, neurologic/ neurosurgical, and orthopedic care, these patients often require the services of a urologist and physical, occupational, and speech therapists, and they may need to be enrolled in individualized educational programs. Family counseling is a necessity. From an orthopedic standpoint, emphasis is placed on optimizing neuromuscular function by attempting to assist the achievement of progressive motor milestones including the ability to sit, stand, walk, and perform activities of daily living. Exercises, bracing, and surgical procedures all have a role, and the institution of specific measures must be timed to fit the pace of growth and development of the individual child. Encouragement and cautious optimism are important. Surgical treatment usually takes the form of soft tissue release to relieve flexion deformities, tendon transfer to optimize functional use of the extremities, osteotomy to correct deformities, and occasionally selective neurectomy to inhibit

Figure 21-114  Cerebral palsy. Typical patient with spastic quadriplegia. Note the secondary muscle atrophy especially evident in the lower extremities. He requires crutches to ambulate, seizure medication, and a specialized educational program. His neuromuscular abnormalities are the result of a one-time central nervous system insult and are not progressive.

the growth of any bone or joint can be altered by uneven, nonphysiologic mechanical forces across the bone or joint, leading to permanent deformity. One example of this biologic response to muscle imbalance in the growing child, frequently seen in children with severe spasticity, especially with quadriplegia, is hip dislocation (Fig. 21-115). Hip deformity, dislocation, and associated arthritic changes are the result of significant and prolonged imbalance of muscle pull about the hip. It is estimated that in 50% of children with untreated hip dislocation, pain may become significant and problematic, necessitating hip resection or replacement in adolescent or adult life. The development of pain in these children who are

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Figure 21-115  Hip dislocation in cerebral palsy (CP). A, This 9-year-old with quadriplegic CP has a dislocated left hip as a result of spasticity and unbalanced muscle pull. This is a source of significant pain in about 50% of cases whether or not the child is ambulatory, and surgical treatment is indicated. Note the baclofen pump on the right.  B, This is the proximal femur removed from another child with severe spasticity and a painful dislocated hip. Note the erosion of the articular cartilage. This and disuse osteoporosis make it easy for a metal probe to perforate the femoral head.

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Figure 21-116  Pre- and postoperative spinal radiographs of a 15-year-old female with cerebral palsy and scoliosis. A, Preoperative radiograph indicating pelvic obliquity (tilt), which makes sitting in a chair difficult. The patient is nonambulatory. B, Postoperative radiograph. Note improved symmetry of chest and leveling of pelvis, which made sitting easier and more comfortable.

A

overactive muscle units. The most common orthopedic surgical procedures are directed at achieving a plantigrade foot (heel cord lengthening, split posterior tibial tendon transfer), correcting a crouch gait at the knee (hamstring lengthening), and keeping the hips in place (soft tissue release, femoral and pelvic osteotomy). The spine is one of the major areas of concern in children with significant spasticity and who are wheelchair dependent. Scoliosis develops frequently and contributes to pelvic tilt (pelvic obliquity), which impairs sitting balance (Fig. 21-116, A and B). Bracing is used for children with flexible curves to help them sit better in their chairs, but bracing does not alter the natural history of the scoliosis. The curves will progress in spite of the brace even into adult life. The decision to surgically correct the spine should be discussed with the family when the child’s curvature becomes significant enough to interfere with sitting, if there is significant back pain, or if the quality of the child’s life is adversely affected because of the magnitude of the curve. The risks of complications are higher in spinal surgery for children with cerebral palsy than in adolescent idiopathic scoliosis because of greater overall health issues and because the spinal fusion is more extensive, usually extending from the upper thoracic spine to the pelvis. The complications include excessive blood loss, increased risk of infection, pulmonary problems, failure of fusion and breakage of instrumentation, neurologic injury, and a risk of perioperative death. However, in spite of the increased risk of complications, most children do very well and although their functional limit remains, their quality of life can be significantly improved (Fig. 21-116, B). Successful surgical outcome requires a team approach in the pre- and postoperative evaluation and treatment of the child that includes general pediatrics, pulmonology, neurology, anesthesia, critical care, and on occasion hematology for assessment of coagulopathies. The final decision on spine surgery is made by the family after a thorough discussion with the surgeon concerning risks and benefits.

B

Spina Bifida Cystica (Myelomeningocele) The myelodysplasias are a group of congenital deformities that result from defective closure of the caudal portion of the neural tube during embryonic development. When the failure of closure involves only the posterior vertebral elements, it is termed a meningocele; when it involves neural and vertebral elements, it is called a myelomeningocele. In patients with myelomeningocele, the loss of neurologic function that results from abnormal cord and spinal root development has dire consequences for the developing musculoskeletal system. Affected children often require neurosurgical closure of the defect at birth to allow healing and prevent infection, and most need a ventriculoperitoneal shunt to prevent or control hydrocephalus. Because of lack of bladder innervation and control, careful urologic follow-up is necessary as well. The skeletal manifestations seen in spina bifida are the result of imbalances in muscle function of the trunk and extremities. The neurologic loss roughly corresponds to the level of the spine at which the defect lies. In those patients with thoracic myelomeningocele, complete lack of sensation and motor function is seen in the lower extremities, and ambulating and functional capacity are limited. On the other hand, in those individuals whose defect is at a low lumbar or sacral level, the weakness and subsequent deformity may be limited to the foot, or hip extensors and abductors, and to bladder dysfunction. As with cerebral palsy, treatment by a multidisciplinary team of physicians, nurses, and therapists is helpful in reducing complications and maximizing function. Physical therapy (PT) is important in helping to maintain motion and maximize strength of those muscles that are working. Bracing, in addition to PT, helps prevent secondary joint contractures, which can significantly impair function. Surgical intervention may be necessary to help rebalance unequal muscle forces and to release contractures if they occur. A kyphotic deformity

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Figure 21-117  Spina bifida. A, This child with thoracic-level spina bifida has an obvious kyphotic deformity. The scars on her back are from surgical closure of her myelomeningocele. B and C, Anteroposterior and lateral radiographs of the spine demonstrate that kyphosis is secondary to incomplete posterior osseous support.

(Fig. 21-117) of the spine can make bracing, sitting, and lying uncomfortable and may necessitate surgical correction with spinal rods and fusion.

Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a family of inherited disorders characterized most notably by brittle bones. Nearly 90% of cases have been determined to be the result of mutations in either the COL1A1 or COL1A2 gene. These genes encode production of the pro-α1 and pro-α2 polypeptide chains, which are then assembled into a triple helix composed of two pro-α1 chains and one pro-α2 to form type I collagen—the major structural protein of bone and other connective tissues. Thus far, hundreds of different mutations of these genes have been identified as causative of varying phenotypes of OI. Nearly all are autosomal dominant. Some of these mutations are characterized by production of structurally abnormal collagen. In other cases, the mutant allele is not expressed, resulting in secretion of about 50% of expected levels of structurally normal type I collagen (see also Chapter 1). Histologically, bone mass is decreased and trabeculae are reduced in both number and thickness. Ossification is decreased, and when structurally abnormal collagen is produced, osteoid is poorly organized. The end result is a significant increase in susceptibility to fractures. The most widely accepted system of classification of these disorders, developed by Sillence and colleagues (1979), uses a combination of clinical features and course, radiographic findings, and genetic factors to divide cases into four main types. In type I, nearly all cases are characterized by reduced production of structurally normal collagen, whereas in types II to IV some proportion of the type I collagen produced is structurally abnormal. Phenotypically, patients with types I and IV have mild to moderate (less often moderately severe) fragility, and those with types II and III have severe disease. Patients with the two milder forms typically experience a distinct decrease in fracture frequency with the onset of

B

C

puberty, which then reverses in the fifth or sixth decade, or after menopause in women. Considerable phenotypic variation exists between and within types, due predominantly to the large number of possible sites for mutations to occur on the COL1 genes. Some cases of intrafamilial variability are the result of genetic mosaicism within a parent. Although the causative mutations affect all connective tissues in the body, their primary clinical manifestations involve the skeleton because of the greater structural demands placed on bones. Estimates of incidence of cases of type I range from 1 in 15,000 to 30,000 live births, and for type II from 1 in 20,000 to 60,000. Type III occurs in approximately 1 in 70,000 live births. Cases of type IV are thought to be much less common, but the exact incidence of type IV is unknown because it is likely that many patients with milder disease are never diagnosed, and there is evidence that a number of other cases have been misclassified as type I in the past. The same is probably true of patients with milder forms of type I whose sclerae are not noticeably blue. Osteogenesis Imperfecta Type I OI type I is the most common form and is usually the mildest clinically. Two subtypes exist: A (the great majority), in which teeth are normal, and B (unusual), in which dentinogenesis imperfecta is a feature (see Chapter 20). All those with OI type I have blue or grayish-blue sclerae at birth (Fig. 21-118), although the degree varies and tends to lessen with age. Bony fragility ranges from mild to moderate (up to 10% have no fractures). Although an occasional patient incurs a fracture during delivery, most experience their first after they begin to cruise or walk. The most common sites are the long bones of the arms and legs. Healing is normal with good callus formation and occurs without deformity. Radiographically, bones appear normal in infancy, save for the presence of wormian bones within the sutures of the calvarium (Fig. 21-118, B; and see Chapter 15); however, over time, some degree of osteopenia becomes evident along with

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A

C B Figure 21-118  Osteogenesis imperfecta (OI) type I. A, Blue sclera. B, Wormian bones. Multiple wormy, irregular lucencies are seen over the occipitoparietal area. This finding is characteristic of all children with OI types I, II, and III and is seen in more than 50% of patients with OI type IV. C, Cortical thinning is evident, especially distal to the oblique fracture of the tibia in this child with OI type I who incurred his fractures while jumping off a chair. (A and C, Courtesy Thomas Daley, MD, St. Joseph’s Hospital, Paterson, N.J.)

thinning of the cortices (Fig. 21-118, C). In some patients vertebral flattening is noted in later childhood and adolescence. Growth is normal, with ultimate stature within the expected range or at its lower limits. Kyphoscoliosis is seen only occasionally. Other common clinical features include mild femoral bowing at birth and generalized ligamentous laxity with joint hypermobility. Easy bruisability and slight thinning of the skin are present in some patients. Approximately 50% of individuals with OI type I develop progressive hearing loss beginning in the late teens or twenties. The loss has both sensorineural and conductive components, the latter stemming from fractures and/or fusion of the ossicles of the middle ear. Osteogenesis Imperfecta Type II OI type II is the severest form and is usually lethal in the perinatal period. Most cases are the result of new mutations, although parental germ line mosaicism is occasionally causative. Intrauterine growth is severely retarded, and affected infants are born prematurely with innumerable poorly healed fractures and prominent deformities due to extreme bony fragility. The sclerae are a dark blue-black; the facies is triangular with micrognathia and a small beaked nose; and the calvarium is large in relation to the face and remarkably soft. Other clinical features include marked shortening of the extremities and severe bowing of the legs with hips flexed and thighs fixed in abduction and external rotation (Fig. 21-119). The combination of a short trunk (due to vertebral flattening) and a small chest cage predisposes to severe/progressive pulmonary insufficiency and congestive heart failure. Radiographs reveal extreme undermineralization of the entire skeleton; prominent vertebral flattening; very thin hypoplastic beaded ribs; and long bones (especially the femurs) that are broad and telescoped, resembling a concertina in appearance.

Death usually supervenes within a few days to weeks of delivery, due to cardiopulmonary complications. Osteogenesis Imperfecta Type III Like OI type II, OI type III is usually the result of new mutations, less commonly of parental germ line mosaicism. The majority are born with multiple fractures and deformities due to fractures in utero. Those who are not incur multiple fractures within the first 1 to 2 years. Birth weights are usually low, and length is short. The extremities are foreshortened, and tibial bowing is prominent (Fig. 21-120, A). Sclerae are blue to pale blue and gradually lighten with age. The calvarium is

Figure 21-119  Osteogenesis imperfecta type II. This infant was born with multiple fractures and limb deformities. The thighs are fixed in abduction and external rotation. His sclerae are a dark bluish-gray. He died of respiratory insufficiency in the first month of life as the result of his small thorax.

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A

C

B Figure 21-120  Osteogenesis imperfecta type III. A, Note the extremely small stature of this 5-year-old child and the deformities of the rib cage and lower extremities. A recent fracture has been splinted. B, In this close-up, the characteristic craniofacial features are seen, consisting of a triangular facies, a broad nose, and frontal and temporal bossing. The sclerae may be normal in color, as in this child, or light blue or gray. C, Radiograph of an affected infant shows dwarfed, deformed femurs with a new fracture in the midshaft of the right femur. Note also the thin, peculiarly shaped ribs.

relatively large in comparison with the face, which is triangular with a small chin and frontotemporal bossing (Fig. 21-120, B). Dentinogenesis imperfecta is seen in more than half of cases. Bony fragility is moderately severe to severe, and fractures occur with minimal trauma. Healing is impaired and often associated with hyperplastic callus and angulation. Repeated fractures of long bones over time result in progressive limb shortening and deformity. Radiographically severe diffuse osteopenia and thin cortices are evident, and this tends to worsen with age (Fig. 21-120, C). The calvarium is markedly undermineralized, with wormian bones seen within sutures (see Fig. 21-118). The ribs are thin and hypodense. In some patients cystic changes develop in the metaphyses of long bones between 2 and 5 years of age. These are a manifestation of severe disorganization of growth plate structure, which significantly impairs linear growth, and combined with vertebral flattening results in markedly reduced stature. Rapidly progressive kyphoscoliosis is a feature in many older patients and predisposes to cardiopulmonary complications. Other clinical features include ligamentous laxity (seen in 50%) and early-onset hearing loss. About 25% experience easy bruisability, and a number of affected children also report heat intolerance and excessive sweating. Osteogenesis Imperfecta Type IV OI type IV, generally considered the least common of the four major types of OI, is divided into two major subsets: A (a minority) with normal dentition and B (the majority) with dentinogenesis imperfecta (see Chapter 20). Sclerae are normal in color or slightly gray. The degree of bony fragility ranges widely from mild to moderately severe. Birth weight and length are normal, and mild femoral bowing is seen in most affected newborns. On occasion fractures occur in utero or at

delivery, but most do not experience their first break until after the perinatal period, usually after they begin to walk. Although most fractures heal without deformity, in some instances mild angulation and long bone shortening may occur. Radiographically, bones may appear normal early on, but with age cortical thinning and osteopenia become increasingly evident. Linear growth tends to be mildly impaired, and by age 2 to 3 years most affected children are at or below the third percentile. Generalized ligamentous laxity with joint hypermobility and bowing of the lower extremities and/or valgus knees are not uncommon. Up to one third develop scoliosis in late childhood/early adolescence. Hearing loss is unusual. Other Types of Osteogenesis Imperfecta Since the Sillence classification was formulated in the 1970s, major advances in testing for defects in type I collagen have enabled more accurate classification of cases into the four major types of OI. In addition, three other clinical types have been identified more recently (types V through VII), none of which has any detectable deficit in type I collagen. Types V and VI are autosomal dominant, and type VII is autosomal recessive. All are rare. Osteogenesis Imperfecta Type V Affected children have normal sclerae and teeth but moderate to severe fragility of long bones and vertebrae, as well as ligamentous laxity. Callus produced in the course of fracture healing is distinctly hyperplastic. Radiographically, a radiodense band is seen in the metaphyses of long bones near the epiphyses in all affected patients who are still growing. Another feature unique to this type is calcification of the interosseous

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membrane between the ulna and radius, which limits supination and pronation of the forearm. Osteogenesis Imperfecta Type VI Patients with OI type VI have normal to slightly blue sclerae and normal teeth. Mild to moderate osseous fragility is seen (often to a greater degree than in type IV), with onset of fractures occurring in the first 6 to 18 months. Vertebral compression fractures are especially common. Histologically there is evidence of defective mineralization of the bony matrix with accumulation of osteoid. Osteogenesis Imperfecta Type VII In children with OI type VII, sclerae are blue but teeth are apparently normal. Osteopenia is significant, and bony fragility is moderate to severe. Fractures are often present at the time of delivery and those involving long bones of the lower extremities often result in deformity. Both coxa vara, a downward curvature of the femoral neck causing adduction of the thigh, and rhizomelia (shortening of the proximal extremities) have been described. Diagnosis With close attention to clinical findings and course, as well as radiographic features and family history, the diagnosis of OI types II and III is relatively obvious and that of types I and IV is usually straightforward. The major exception involves the very small minority of patients with OI type IVA—with normal teeth and sclerae—and of patients with OI type IA, whose sclerae are not noticeably blue. Routine laboratory studies that reflect bone and mineral metabolism are normal and thus unhelpful. Thus far determination of standards for the normal range of bone density in growing children is in its infancy. Further, although measurements in children with mild forms of OI reveal that densities are usually somewhat low, many are still within what is currently considered the normal range. When a clinical diagnosis cannot be made with any degree of assurance and when an exact diagnosis is necessary, analysis of collagen synthesis by fibroblasts obtained via skin biopsy can be performed. However, the process takes 3 to 4 months. It must also be remembered that the results will be normal in children with OI type VI or VII. Prenatal diagnosis, for families who have had a child with OI type II or III (the genetic defect of which has been identified), involves analyzing fetal DNA obtained by chorionic villus sampling. Ultrasound is also of use in detecting these types of OI between 15 and 18 weeks of gestation. Routine specific genetic testing is as yet infeasible. Differential Diagnosis In general there is no confusion in the diagnosis of type III OI. The same is true of most type II cases, although occasionally they must be distinguished from thanatophoric dysplasia, achondrogenesis, and autosomal recessive hypophosphatasia. The major differential diagnostic considerations in cases of types I and IV are child abuse and idiopathic juvenile osteoporosis. Distinction from abuse (see Chapter 6) is usually possible clinically because infants and children with previously undiagnosed mild OI and an acute fracture are brought in for care promptly, by parents who are appropriately concerned and give a history of a mechanism of injury that fits the fracture pattern found, although the amount of force reported is somewhat less than is usually required to cause a fracture. Further, most of these fractures involve the diaphyses of the long bones of the extremities. The metaphyseal fractures seen commonly in abuse victims are exceptionally rare in children with OI, and typically one does not find multiple fractures of varying

873

ages for which no prior care has been sought. Finally, skull fractures are rare in OI and retinal hemorrhages, subdural hematomas, and visceral injuries are not seen, with the rare exception of the infant or child with OI who is also a victim of abuse. The major source of potential confusion is the infant with mild OI and normal sclerae who has incurred one or more nondisplaced fractures in utero or during delivery that were not diagnosed in the newborn period. If he or she then presents with a first symptomatic fracture within the ensuing few months, old healing fractures will be found. Again, timing of presentation, parental demeanor, consistency with mechanism, and family history and psychosocial history should all be scrutinized carefully in making the distinction. Consultation with a specialist in abuse and neglect can be very helpful. Idiopathic juvenile osteoporosis is an exceptionally rare disorder of unknown etiology. In affected children osteopenia and fractures are most evident in the vertebrae, less so in the long bones, and measurements of bone density are well below normal. This condition improves dramatically in adolescence. Family history is negative for unusually frequent fractures. Treatment Patients with OI types I and IV usually require only routine orthopedic care for their fractures and counseling regarding accident prevention and safety. Palliative supportive care and minimal handling are the only measures available for infants with OI type II. Treatment of infants and children with OI type III is geared toward minimizing the frequency of fractures and preventing deformities. In infancy this may mean limited handling of the child and use of a padded carrying device. Later, bracing and surgical treatment in the form of osteotomies and internal stabilization of long bones with intermedullary rod fixation may be necessary. Maintenance of activity and the avoidance of repeated prolonged periods of immobilization help prevent disuse atrophy. Early investigational trials of intravenous pamidronate in patients with severe fragility have shown some promise in reducing fracture frequency. However, only preliminary results on small numbers of patients are available, and data on longterm side effects do not exist. Growth hormone, which stimulates bone and collagen metabolism, has shown some promise in children with more severe forms of OI type I. It is, however, contraindicated in patients with kyphoscoliosis because it increases the rate of progression of deformity, and also in children with OI types II to IV because its stimulant effect on collagen metabolism only serves to increase secretion of abnormal collagen.

Arthrogryposis Arthrogryposis is a nonprogressive muscular disorder of unknown etiology that appears to be related to either failure of development of or degeneration of muscular structures. Neural factors have been implicated in its pathogenesis because in some instances the spinal cord has been found to be reduced in size, with a decreased number of anterior horn cells. In general, all limbs are involved. On occasion the disease may be confined to one or a few limbs only. Primary manifestations consist of joint contractures with secondary deformities and limited motion. Deformities include clubfoot; dislocated hips; and contractures of the knees, elbows, wrists, and hands (Fig. 21-121). Motion of the involved joints is severely limited, but patients can generally compensate for this functional limitation. Radiographs show relatively normal-appearing bones and joints, but fat density is noted in the areas where muscles are normally seen. On pathologic

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A

B Figure 21-121  Arthrogryposis. A, Two sisters with the generalized form of the disorder. Note the stiff posture and tubular appearance of the limbs. Motion of all joints is limited as a result of failure in the development, or the degeneration, of muscular structures. Their stature is short. B, The lateral view highlights the flexion contractures of the elbows.

analysis, there is a striking absence of muscle tissue with strands of fat permeating the area. Orthopedic treatment is aimed at providing optimal motor function. Range-of-motion exercises may maintain what motion is present but rarely result in an increase. Surgery rarely results in improved range of motion but is indicated to restore functional position in those patients with clubfoot and/ or hip dislocation. Gradual recurrence of the deformity after surgery is not uncommon, however.

SPORTS MEDICINE The benefits of physical activity and sports have been touted not only by the health care professions but also by school officials, sports enthusiasts, the media, and insurers. They include improved physical fitness and flexibility; an increased sense of physical well-being; and reduction of stress, tension, and anxiety at all ages. Further, a well-selected activity can be a source of considerable physical pleasure and enjoyment. In childhood and adolescence, physical activity and sports can increase self-confidence and self-esteem, especially when the child is able to achieve mastery of skills and, thereby, a sense of competence and accomplishment. Participation in team sports can also assist development of interactive social skills including cooperation, conflict resolution, and discipline and

give a child a sense of “fitting in.” Furthermore, when physical activity is and remains a source of fun and enjoyment from an early age, it can set the stage for a lifelong pattern or habit of being active with the attendant long-term benefits of cardiovascular health, good weight control, optimal bone density, and reduction of risk of developing type 2 diabetes. In the first half of the 20th century, sports in childhood consisted primarily of free play and “pick-up games” in yards, on streets, in alleys, and on empty lots with little or no adult supervision. Spontaneity, flexibility, and in many cases greater inclusiveness (kids of differing ages and skill levels) were typical, and although competition was a feature, it tended to be less prominent than is true of organized sports. In contrast, today greater danger in many urban neighborhoods; limited numbers of children in others; lack of access to playgrounds or other sports facilities; and competing demands of television, computers, and homework have reduced the opportunity for unstructured free play. Furthermore, with many children entering day care at an early age and progressing through preschool to elementary school and beyond, constant adult supervision of play is often the norm. These factors have contributed to the strong trend over the past few decades toward increasing organization of sports. As a result, participation of children in either formally or informally organized sports activities is nearly universal and has become part of normal childhood experience. Physical education may begin as early as age 4 and extend through adolescence and is now nearly equal for boys and girls. This trend toward increasing organization has had its pluses and minuses. It can be positive when there is good coaching and supervision that takes developmental levels and readiness into consideration, has reasonable goals for participation, and good methods for achieving them. Elements of such programs include emphasis on learning basic skills while gradually increasing level and intensity of activity; on developing the social skills necessary for good teamwork; on good sportsmanship and having fun more than winning; and use of praise, encouragement, and enthusiasm to motivate progress. Other good practices include fair processes in team selection; matching competitors by size and skill level; teaching the rules and the reasons for them; placing emphasis on safety and setting strict limits on dangerous practices; and teaching safe practice techniques with reasonable time limits on practices and games to reduce risk of overuse and other injuries. An added benefit has been a trend toward construction of better facilities and development and use of improved equipment. Conversely, when coaches and parents place unrealistic demands and expectations on children that exceed their developmental abilities and readiness to participate, when competitiveness and winning become the goals and only the best players get praise and the opportunity to play, and when criticism and demeaning remarks are used as “motivators,” then spontaneity and enjoyment are lost and sports become a source of stress. In such situations, many children lose interest and motivation and come away with a sense of frustration and failure. In fact, greater emphasis on competition from peers, coaches, and parents and higher expectations for increased performance in ever-younger children now account for a significant rise in the incidence of adult-type injuries appearing in children. This is in addition to the injury patterns that are unique to childhood. It also may be partially responsible for a significant drop-off in sports participation during the middle school teen years.

Development of Athletic Skills Having a basic understanding of child development is integral to optimal parental encouragement of physical activity and to safe and effective coaching of sports programs. Acquisition

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Table 21-10

Average Age at Acquisition of Mature Patterns of Sports-related Motor Skills

Skill

Boys (Years)

Throwing Kicking Hopping and catching Hitting balls and shooting baskets

6 7 7-8 10-14

Girls (Years) 8 8 7-8 10-14

of motor milestones during infancy and childhood follows a relatively orderly and predictable course, albeit with a wide range of normal variation in rate. This development in concert with advances in cognitive and social ability is dependent on physical growth and on myelination and neural maturation with corresponding increases in sensory/motor integration, as well as on each child’s own curiosity and desire to master new movements and activities. Although it has been demonstrated that having freedom and encouragement to explore and experiment at their own pace (without undue restriction or criticism) fosters developmental advances, there is no evidence that participation in early training programs either hastens this process or improves later performance in sports. In the early school years, further maturation assists acquisition of additional basic motor skills, development of mature patterns of sport-related skills (Table 21-10), and then the trying out of these skills in varying combinations (transitional skills). There is evidence that instruction and practice can help refine motor skills in children in this age range. Cognitively and socially, young school-age children do not have the wherewithal to make true teamwork or team play realistic, however. During later childhood and early puberty, ongoing maturation enhances the ability to further refine skills and enables understanding of strategy and practice of true teamwork. Throughout the elementary and middle school years, there is a gradual increase in cardiopulmonary endurance in

Table 21-11

875

both sexes, and this, coupled with the fact that strength is relatively comparable in boys and girls, makes coed participation and competition feasible and safe. With puberty, the growth spurt results in major increases in muscle mass and strength, as well as in exercise capacity or cardiopulmonary endurance. Girls tend to mature earlier and more gradually, while boys often enter puberty somewhat later but at a more rapid rate, ultimately ending up much larger and stronger than most of their female counterparts. This makes coed participation, especially in contact sports, less safe for girls. During the pubertal growth spurt, bones grow relatively faster than surrounding soft tissues, resulting in a temporary period of decreased flexibility or tightness, especially of the hamstring muscles and ankle dorsiflexors. This phenomenon can predispose to injury, and preparticipation stretching exercises are advisable as a preventive measure (see Fig. 21-124). Throughout childhood and well into puberty, the open epiphyses of growing bones are vulnerable to injury when subjected to shearing stresses and heavy weight loads. This necessitates care in strength training and avoidance of weight lifting and related sports until skeletal maturity is achieved. The wide range of normal variation of onset and pace of puberty results in significant differences in size and maturation of individuals of the same age and sex. This has led to the practice of matching children and teams by weight or size to reduce risk to smaller children in contact sports. Use of maturation indexing, matching by Tanner stage or maturity level, is gaining interest, and although there are no hard data yet regarding effectiveness, it does have an inherent logic and may be preferable, given the fact that a pubertal child of the same size as a prepubertal child is likely to be much stronger. To date, however, this practice has not gained wide acceptance. Table 21-11 presents in summary form the developmental progression of motor and cognitive development along with corresponding recommendations for athletic education and training. Importantly, no data currently exist regarding optimal age for beginning participation in the various organized sports.

Developmental Skills for Sports and Sports Recommendations during Childhood

Early Childhood (2 to 5 Years)

Middle Childhood (6 to 9 Years)

Late Childhood (10 to 12 Years)

Motor skills •  Limited fundamental skills •  Limited balance skills Learning •  Extremely short attention span •  Poor selective attention •  Egocentric learning—trial and error •  Visual and auditory cues are important Vision •  Not fully mature before ages 6 to 7 (farsighted) •  Difficulty tracking and judging velocity of moving objects Sports recommendations •  Emphasize fundamental skills with minimal variation and limited instruction •  Emphasize fun, playfulness, exploration, and experimentation rather than competition •  Activities: Running, swimming, tumbling, throwing, catching

Motor skills •  Continued improvement in fundamental skills •  Posture and balance become more automatic •  Improved reaction times •  Beginning transitional skills Learning •  Short attention span •  Limited development of memory and rapid decision-making Vision •  Improved tracking •  Limited directionality Sports recommendations •  Emphasize fundamental skills and beginning transitional skills •  Flexible rules of sports •  Allow free time in practices •  Short instruction time •  Minimal competition •  Activities: Entry-level soccer and baseball

Motor skills •  Improved transitional skills •  Ability to master complex motor skills •  Temporary decline in balance control at puberty Learning •  Selective attention •  Able to use memory strategies for sports such as football and basketball Vision •  Adult patterns Sports recommendations •  Emphasis on skill development •  Increasing emphasis on tactics and strategy •  Emphasize factors promoting continued participation •  Activities: Entry level for complex skill sports (football, basketball)

Modified from Nelson MA: Developmental skills and children’s sports, Phys Sportsmed 19:67-79, 1991.

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The Preparticipation Sports Physical Examination Recognition of the rise in injury incidence and of new types of injury in children, especially when participating in programs that do not adequately factor in neuromuscular and cognitive development, has led to increased interest in more formal medical monitoring of child and adolescent athletes. In an effort to foster safer participation, a task force was formed, composed of representatives from the American Academy of Family Physicians, the American Academy of Pediatrics, the American Medical Society for Sports Medicine, the American Orthopaedic Society for Sports Medicine, and the American Osteopathic Association for Sports Medicine. Their charge was to develop recommendations and standards for the format of the preparticipation evaluation (PPE) of youngsters before entry into competitive sports programs. Initial recommendations were published in 1992 and were subsequently refined and updated in 1997. The primary goals of the PPE are as follows: 1. Detection of underlying medical problems or conditions that are characterized by the following: • May predispose to injury (e.g., patellofemoral malalignment) • Are potentially disabling (e.g., prior injury) • Are potentially life-threatening (e.g., hypertrophic cardiomyopathy) Such conditions may warrant further evaluation and testing, a rehabilitation or preconditioning program, or selection of an alternative sport. 2. Assessment of the following: • General health • Physical maturation • Fitness level and proficiency for a particular sport (including strength, flexibility, and joint stability) This helps in determining whether a preconditioning program may be indicated or whether selection of an alternative sport may be advisable. 3. Compliance with insurance and legal requirements 4. Counseling regarding health-related issues • Nutrition and healthy diet • Avoidance of high-risk or unhealthy behaviors (e.g., drugs, alcohol, fighting, promiscuity) • Importance of safe training and play techniques and safety equipment • What sports are safe for the individual 5. Ideally, assessment of cognitive and social readiness; interest level, goals, and motivation; psychosocial supports at home and at school; and current life stresses The person performing the examination may be the primary care physician or, in some instances, a sports medicine physician or a physician with a specific interest in this area. It is generally recommended that an examination be done at least every 2 years, more frequently if there is a change in the physical condition of the child or a change in the sports level. However, most states and school systems require yearly examinations. The assessment is best performed at least 6 to 8 weeks before beginning participation to allow for time to correct any deficiencies that may need rehabilitation or warrant a preconditioning program. Three major formats/sites of examination may be used. • Locker room examination: Students line up and are seen one at a time by a team physician who usually has an interest in or expertise in sports medicine.

• Station method: The examination is divided into components, each with a station that may be staffed by a nurse, physician, trainer, or coach. Stations include weight/ height, vision, vital signs, and general examination. Dental and nutrition stations are optional. • Office method: The child is examined by his own primary care physician. Both the locker room and station methods tend to be performed in a noisy milieu (making auscultation difficult). They afford limited privacy and have the disadvantage of the physician’s not knowing or having an established relationship with the child or adolescent. They do, however, have the advantage of having physicians who tend to be more well versed in sports medicine, are reputed to be more efficient, and are less costly. The office method affords privacy, a quiet environment, and greater opportunity for individual attention and counseling. When there has been long-standing continuity of care, the physician knows the child’s past medical, surgical, injury, growth, developmental, family, and psychosocial histories. Furthermore, the established physician–patient relationship assists assessment of maturity, readiness, motivation, and psychosocial stressors that may affect performance, and it can enhance efficacy of counseling and compliance with recommendations. It may have the disadvantage of the physician’s having limited knowledge of the sport and its requirements. The forms designed by the PPE task force for the history, physical examination, and clearance to participate are well crafted for meeting the goals of the PPE. They are regarded by experts as the best available, and we encourage their use (especially the history form), although states and school systems often have their own, less inclusive forms. Ideally, the history form is given to the prospective athlete in advance of the examination date, with instructions to complete it together with his or her parents. (Requiring a parental signature may be advisable to ensure that the parent’s input is included.) Athletes may need to be reassured that the primary goal of the PPE is to identify potential problems that can be remedied, whenever possible, not to exclude them from play. This form is then reviewed with the athlete at the time of the examination. Questions are designed to screen for conditions most likely to result in problems or to be associated with significant risk for injury, reinjury, disability, or sudden death. Positive responses also help to highlight areas that need special attention in performing the physical examination. Particular areas of emphasis include exercise- or postexerciserelated cardiopulmonary, neurologic, and musculoskeletal symptoms; family history of early and sudden cardiac deaths; past medical, surgical, injury, and heat illness histories; and identification of chronic or recent illnesses (especially the possibility of myocarditis and mononucleosis) that may be sources of increased risk or necessitate limits on participation. The cardiovascular, pulmonary, and musculoskeletal portions of the physical examination have the highest yield in identifying potential problems. Attention is also paid to identifying visual problems that warrant protective eyewear (i.e., being functionally one-eyed), the abdominal examination for detection of visceromegaly, and genital examination (when having a single testicle warrants extra protection during contact sports). In addition to screening for hypertension, the cardiac examination should focus on findings that may suggest a previously undetected disorder that may place the athlete at risk when playing sports of high aerobic intensity. These include hypertrophic cardiomyopathy, aortic stenosis, coarctation, other cardiomyopathies, myocarditis, and certain arrhythmias. Attention is paid to pulse quality and regularity; amplitude of pulses in upper and lower extremities; precordial activity; and auscultation in supine, as well as squatting and standing, positions

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because in some (although not all) cases of hypertrophic cardiomyopathy and other sources of left ventricular outlet obstruction, a systolic murmur that increases on rising from squatting is noted. This is in contrast to the flow murmur heard in well-conditioned athletes that decreases on standing. Murmurs that increase on standing from a squat position, diastolic murmurs and those that are grade III or greater, pulse irregularities other than physiologic changes with respiration, unequal pulses in upper and lower extremities, and decreased pulse amplitude all warrant further evaluation by a cardiologist, as do any positive responses to cardiovascular questions on history. Exercise-induced asthma, the most common pulmonary problem affected by exercise, can often be identified by history

877

of cough, shortness of breath, or chest tightness with exercise. Nevertheless, in many cases the condition remains unrecognized. Although peak flow readings before and after exercise challenge done in the office (running up and down stairs or jumping rope for 3 to 5 minutes) may detect additional cases, research suggests that the best method is field testing of pulmonary function before and after a 1-mile run. Unfortunately, the latter is often impractical. The contours, symmetry, range of motion, and stability of the neck, back, shoulders, elbows, wrists, hands, hips, knees, ankles, and feet can be assessed quickly and efficiently using the 2-minute musculoskeletal screening examination (Fig. 21-122). When this is combined with additional attention to areas highlighted by the history, the vast majority of

4

3

2

1

6 5

8

7

9

10

11

12

13

6. Extension and flexion of elbow (range 1. Inspection, athlete standing, facing of motion, elbow). toward examiner (symmetry of trunk, upper extremities). 7. Pronation and supination of elbow 2. Forward flexion, extension, rotation, (range of motion, elbow and wrist). lateral flexion of neck (range of 8. Clench fist, then spread fingers motion, cervical spine). (range of motion, hand and fingers). 3. Resisted shoulder shrug (strength, 9. “Duck walk” four steps (motion of trapezius). hip, knee, and ankle; strength; balance). 10. Inspection, athlete facing away from 4. Resisted shoulder abduction examiner (symmetry of trunk, upper (strength, deltoid). 5. Internal and external rotation of extremities). shoulder (range of motion, glenohumeral joint).

14

11. Back extension, knees straight (spondylolysis/spondylolisthesis). 12. Back flexion with knees straight, facing toward and away from examiner (range of motion, thoracic and lumbosacral spine; spine curvature; hamstring flexibility). 13. Inspection of lower extremities, contraction of quadriceps muscles (alignment, symmetry). 14. Standing on toes, then on heels (symmetry, calf; strength; balance).

Figure 21-122  Two-minute musculoskeletal screening examination. (From Smith DM, editor: Preparticipation physical evaluation monograph, ed 2, Minneapolis, 1997, American Academy of Family Physicians in association with the American Academy of Pediatrics, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, and American Osteopathic Association for Sports Medicine, pp. 1-49.)

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musculoskeletal abnormalities that may benefit from preconditioning programs or rehabilitation are identified, with concomitant reduction of risk of injury and disability. Use of routine laboratory tests has been found unnecessary. Furthermore, studies of mass electrocardiographic and echocardiographic screenings have proved to have high cost and low yield in detecting potentially life-threatening cardiac abnormalities (probably because of their low incidence). Hence these studies should be reserved for cases in which results of history and physical examination indicate the need for further cardiac assessment. Although the rare case of an asymptomatic child with no findings on examination may escape detection, use of a thorough screening assessment as just described will identify the vast majority of children at risk. As noted earlier, although maturation indexing has generated interest it has not gained wide acceptance. Nevertheless, Tanner staging may have a role in selecting lower-risk activities and providing advice with regard to intensity of training. For example, a girl at Tanner stage 2 is entering a period of maximal growth velocity, during which female athletes may have limited joint flexibility and may be particularly predisposed to overuse syndromes. Strength and endurance may be other factors that are potentially helpful in the preparticipation evaluation. These include body composition (skin folds); endurance (12-minute or 1.5-mile run); flexibility (stretch, reach); agility (Illinois agility test); power (vertical jump); and balance (single-leg stance), although exact standards for many of these have yet to be defined. In addition, participation clearance for a particular level of sport must be matched with the safety of the sport. The American Academy of Pediatrics has classified sports into risk categories (Tables 21-12 and 21-13) on the basis of contact/ collision risk, degree of aerobic intensity required, and static and dynamic demands placed on the body during play. Although the categorizations are quite helpful, it is important to recognize that they do not factor in the competitiveness of a given sports program or its intensity of training, and they do not include factors that predispose to overuse injuries. Clearance for participation in organized youth sports is generally divided into three categories: (1) full, unrestricted participation is allowed; (2) approval of coach, trainer, or team physician is required, and the athlete may have defined limits on participation or require rehabilitation; and (3) clearance is deferred because of underlying disease process or the need to evaluate further for such a process before giving clearance.

Risk of Injury In early and middle childhood, risk of sports-related injury is relatively low. Being smaller and having less muscle strength than adolescents, children achieve less velocity and thus encounter less force in falls and collisions. In this age range, injuries are more likely to be incurred during recreational play and in the process of learning a new sport. With puberty, gains in size, strength, and speed combine with increased competitiveness and intensity of play to substantially increase both the incidence and severity of injuries. Even so, the majority of injuries incurred during organized sport are minor in nature; less than 10% are serious; and catastrophic spinal and head injuries and sudden cardiac, pulmonary, and heat-related deaths are rare events. Injuries are more likely to occur during practice sessions because practices outnumber formal competitions or games, although incidence of injuries per unit of time played is greater during the latter. The incidence of overuse injuries, in particular, has risen in parallel with the trend toward increasing organization of

Table 21-12

Classification of Sports by Contact/ Collision Risk

Contact or Collision

Limited Contact

Noncontact

Basketball Boxing* Diving Field hockey Football (tackle) Ice hockey† Lacrosse Martial arts Rodeo Rugby Ski jumping Soccer Team handball Water polo Wrestling

Baseball Bicycling Cheerleading Canoeing or kayaking (white water) Fencing Field events High jump Pole vault Floor hockey Football (flag) Gymnastics Handball Horseback riding Racquetball Skating   Ice   In-line   Roller Skiing   Cross-country   Downhill   Water Skateboarding Snowboarding|| Softball Squash Ultimate Frisbee Volleyball Windsurfing or surfing

Archery Badminton Body building Bowling Canoeing or kayaking (flat water) Crew or rowing Curling Dancing‡   Ballet   Modern   Jazz Field events   Discus   Javelin   Shot put Golf Orienteering§ Power lifting Race walking Riflery Rope jumping Running Sailing Scuba diving Swimming Table tennis Tennis Track Weight lifting

*Participation not recommended by the American Academy of Pediatrics. † The American Academy of Pediatrics recommends limiting the body checking allowed for hockey players 15 years and younger to reduce injuries. ‡ Dancing has been further classified into ballet, modern, and jazz since previous statement was published. § A race (contest) in which competitors use a map and compass to find their way through unfamiliar territory. || Snowboarding has been added since previous statement was published. From American Academy of Pediatrics, Committee on Sports Medicine and Fitness 2000-2001: Medical conditions affecting sports participation, Pediatrics 107:1205-1209, 2001.

sports. Children are especially prone to overuse injuries during periods of rapid growth, when the rate of bone growth exceeds that of surrounding soft tissues, resulting in decreased flexibility. Intensive training for a particular sport, especially when initiated at a low level of fitness; abrupt increases in level of activity; lack of preconditioning; and participation in multiple sports during the course of a year are other predisposing factors, as are training practices that fail to teach children proper athletic techniques and to monitor and limit repetitive motions. Youths with ligamentous laxity (up to 7% of school-age children) and joint malalignment (such as patellofemoral tracking disorder) may be injury prone without special preconditioning. Children and adolescents who resume competitive participation after a musculoskeletal injury, without full rehabilitation (return of normal strength, flexibility, and range of motion), have a significant risk for reinjury. In female athletes, especially gymnasts, dancers, and longdistance runners, undue calorie restrictions to maintain “ideal weight,” in combination with intensive training regimens, result in amenorrhea; decreased estrogen levels; and loss of bone density, which has been demonstrated to predispose to early hip and vertebral fractures. Environmental factors can also be sources of significant risk. These include weather conditions such as high heat and

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Table 21-13

Classification of Sport by Level of Aerobic Intensity and by Degree of Static and Dynamic Demands HIGH TO MODERATE INTENSITY

High to Moderate Dynamic and Static Demands

High to Moderate Dynamic and Low Static Demands

Low Dynamic and High to Moderate Static Demands

Boxing* Crew or rowing Cross-country skiing Cycling Downhill skiing Fencing Football Ice hockey Rugby Running (sprint) Speed skating Water polo Wrestling

Badminton Baseball Basketball Field hockey Lacrosse Orienteering Race walking Racquetball Soccer Squash Swimming Table tennis Tennis Volleyball

Archery Auto racing Diving Horseback riding (jumping) Field events (throwing) Gymnastics Karate or judo Motorcycling Rodeo Sailing Ski jumping Water skiing Weight lifting

LOW INTENSITY

Low Dynamic and Low Static Demands Bowling Cricket Curling Golf Riflery *Participation not recommended by the American Academy of Pediatrics. From American Academy of Pediatrics, Committee on Sports Medicine and Fitness, 2000-2001: Medical conditions affecting sports participation, Pediatrics 107:1205-1209, 2001.

humidity (with attendant risk of dehydration and heat illness) and extreme cold or swimming in cold water (frostbite, hypothermia). Children are particularly prone to hyperthermia and hypothermia because of their larger surface area–to-volume ratio. They also have a decreased rate and delay in onset of sweating, compared with adults, making it more difficult for them to dissipate heat. Finally, they have to be encouraged to drink adequate fluids, as their own thirst levels tend not to be adequate to ensure replacement of losses. Finally, uneven or unsafe field conditions or playing surfaces; improper, poorly designed, or ill-fitting equipment (including shoes); and lack of or failure to use appropriate safety gear are other significant factors. Participation in some types of organized sports carries an inherently greater risk and thus higher rates and degrees of severity of injury. This is by virtue of their requiring higher levels of aerobic intensity, their placing high static and/or dynamic stresses on the body, or because high-velocity contacts or collisions are part of the activity. Among these, competitive wrestling, football, and gymnastics are the top three, followed by cross-country skiing, soccer, basketball, track, volleyball, softball, and baseball in approximate order of frequency (see classification system of sport activities based on contact/collision risk [Table 21-12], as well as on aerobic intensity required and on static and dynamic demands encountered [Table 21-13]). Such sports may present especially high risks to children with underlying chronic health conditions (see Sport Selection and Participation for Children with Underlying Problems or Chronic Conditions, later). Two areas of sport are specifically not recommended by the American Academy of Pediatrics: boxing because of high risk

879

of eye and head injury; and weight lifting, power lifting, maximal lifts, and body building because of concerns regarding epiphyseal injuries (especially of the wrist) and apophyseal separations of the vertebrae in children and adolescents who have not reached skeletal maturity. Nonorganized recreational sports are not without their own hazards, in part because of less supervision and inconsistent compliance with recommended safety measures. Those in which high-speed or angular momentum is attained carry particularly high risks for significant trauma. These include bike riding, skateboarding, in-line skating, trampoline jumping, and riding motor bikes and all-terrain vehicles.

Risk Reduction and Injury Prevention One of the first steps in prevention is identification of children at potential risk for injury, using the PPE and referral for further evaluation, if indicated, to a preconditioning exercise program to increase strength, aerobic fitness and/or flexibility, or for preseason sport-specific training, as indicated. When children are found to have conditions that make certain activities potentially harmful, counseling by physicians and coaches regarding safe and enjoyable alternative sports that are of interest to the child can be most helpful. Coaches who are well trained in teaching and coaching their sport, as well as in health and safety issues, and who place their players’ interests first are crucial figures in promoting safety. Best practices include the following: 1. Meeting with prospective players before the preseason to do the following: • Emphasize the importance and purpose of the PPE and of honesty in completing the history form. • Outline expected skill and fitness levels for preseason tryouts. • Suggest or oversee safe, well-supervised preparticipation conditioning or sport-specific training programs. 2. During the preseason and season • Implementing graduated training regimens in which youths can improve skills at a reasonable pace. Such regimens also emphasize the following: • Warm-up and cool-down periods • Learning proper skill techniques (e.g., throwing, kicking) • Limiting the number of repetitions of a single activity (such as throws for a pitcher) • Placing appropriate limits on practice duration and time in play • Having flexibility to modify the regimens to meet individual athletic needs • Familiarizing athletes with the rules of the game and their basis in consideration for safety, along with promotion of strict officiating • Promoting, even insisting on, safe playing facilities and conditions • Ensuring appropriate use of proper equipment of good design and good fit • Insisting on use of recommended safety gear (Table 21-14) • Fostering gradual acclimatization to hot/humid weather conditions, ensuring frequent rest periods, encouraging drinking fluids, and limiting time for practice • Insisting on prompt evaluation of injuries or worrisome symptoms, as well as complete rehabilitation before return to play In Table 21-15 common injuries seen in athletes participating in a number of specific sports are enumerated along with

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Table 21-14

Safety Gear and Field Safety Modifications

Recommended/Required Devices

Specific Sport(s)

Helmets

Groin cups

Bike riding, skating, baseball (batting), football, hockey Skating, skateboarding Soccer Baseball catcher Contact sports Racquet sports, water sports, contact sports (unless incorporated into helmet) Football, hockey

Field Modifications

Sport

Breakaway bases Stationary goal cages

Baseball Soccer

Elbow/wrist/knee guards Shin guards Chest protectors Mouthguards Protective eyewear*

*Mandatory for all functionally one-eyed individuals and those who have had eye surgery or prior eye trauma per American Academy of Pediatrics, Committee on Sports Medicine and Fitness. From American Academy of Pediatrics, Committee on Sports Medicine and Fitness, 1995-96: Protective eyewear for young athletes, Pediatrics 98:311-313, 1996.

prevention strategies recommended by the American Academy of Orthopaedic Surgeons and the American Academy of Pediatrics.

Conditioning and Training The rise in participation of youth in sports activities and the ever-increasing desire to improve performance have led to new concern for understanding the physiologic responses of the growing child to regular and increasingly demanding exercise regimens. The most general of these measures is the maximal oxygen uptake (VO2max). Studies of VO2max, which includes cardiovascular, pulmonary, and musculoskeletal function, have shown that there is relatively little difference between children and adults, and only slightly less function in girls versus boys. It is of note, however, that training does not improve VO2max in children. The biggest increase seems to occur with the pubertal growth spurt. In contrast to aerobic function, children do not do as well anaerobically (as measured by the anaerobic threshold), apparently because they cannot utilize glycogen as efficiently as adults. These factors are important in considerations of the two major types of sports training programs: endurance and strength training. Endurance training consists of a long-term specific exercise program designed to increase exercise capability during prolonged sports participation; in many instances its purpose is to increase the athlete’s fatigue resistance. This is done by specifically increasing the amounts of “overload” on a graduated basis and may be sport specific, for example, running. Basic to endurance training is aerobic conditioning, which requires sustained rhythmic movement of large muscle groups at a level of intensity that results in increases in heart rate and respiratory rate. The recommended frequency is three to five times per week for approximately 15 minutes. In monitoring the training program of the pediatric athlete, it is essential to avoid overload situations that can cause tissue damage and lower performance. All programs need to take into account duration, frequency, and intensity. In young children, conditioning is often best approached through play activities that are more attractive to them with their shorter attention spans. Importantly, those devising training programs should take into consideration that children are not miniature adults. Strength training involves the use of progressive resistance exercises to increase the ability to exert force or resist force.

It is designed to enhance ability to perform a sport and to assist in injury prevention by increasing strength. This is to be distinguished from weight lifting, which is considered a sport, is not a conditioning program, and is not recommended for the immature skeleton. Experts generally agree that a carefully controlled and closely supervised progressive program in the prepubescent athlete may be effective in increasing strength, although it does not increase muscle mass before puberty. Rather, it appears to increase firing of motor neurons and synchronization of motor units. Close supervision by a knowledgeable adult, who monitors technique and the intensity and duration of sessions, is essential to ensure optimal benefit and prevent injury. Training begins with no added load until the child has developed consistently good technique. Then low weight or resistance can be added. When the child is comfortably able to do between 8 and 15 repetitions, then weight or resistance can be added in small increments. The American Orthopaedic Society for Sports Medicine (AOSSM) Workshop on Strength Training recommends two or three sessions per week of 20 to 30 minutes each, including a warm-up and cool-down period. When improved general fitness is also a goal, strength training should be combined with a tailored aerobic conditioning program. Specific strengthening exercises and their target muscle groups are presented in Table 21-16, and exercises designed to strengthen the muscles of the shoulder girdle are shown as an example in Figure 21-123. Strength training can be especially beneficial in preconditioning athletes with ligamentous laxity and in those with patellofemoral malalignment. By strengthening muscles around the involved joints, most commonly the shoulder and knee, joint stability may be improved and the risk of glenohumeral and patellar subluxations and of other injuries may be reduced. Finally, carefully supervised and graduated strength training is an important part of postinjury rehabilitation. Stretching exercises can prove valuable as part of a preconditioning program, in warm-ups before sport participation, and in rehabilitation. They are designed to enhance flexibility or ease of movement of a joint through its normal range of motion. A stretching program is particularly important for children and adolescents during growth spurts, when bone growth outstrips that of the soft tissues surrounding adjacent joints, thereby decreasing flexibility. Examples of stretching exercises are presented in Figure 21-124. Children should be supervised closely, at least initially, to ensure that their movements are slow and smooth, progressing to the point at which resistance is felt, whereupon they should hold still without bouncing for a count of 10.

Sport Selection and Participation for Children with Underlying Problems or Chronic Conditions The prevalence of children and adolescents with chronic health problems has significantly increased over the past few decades, largely due to advances in medical and surgical treatment modalities that have substantially increased life span and quality of life. With improved general health has come greater interest in participation in sports on the part of these children. This has been bolstered by increased recognition of the importance of avoiding the natural tendency to overprotect “vulnerable” children by concerned parents and subspecialists and by programs like the Special Olympics. The latter has greatly expanded opportunities for handicapped children in sports and clearly demonstrated the benefits of sport and the enjoyment that can be derived. Indeed, research and experience have shown that the majority of children with chronic health conditions can reap many of the same benefits as those

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Table 21-15

881

Sport-Specific Injury Prevention Strategies*

Common Injuries Ballet/Dance Repetitive hyperextension of the spine Sprains, tendinitis, stress fractures of the lower extremity Talar impingement Snapping hip (iliopsoas tendinitis, trochanteric bursitis)

Baseball/Softball Throat injuries (to catchers) Head and eye injuries Rotator cuff impingement/tendinitis Medial epicondylitis Ankle injuries

Prevention Strategies Initiate a program of strengthening and stabilization exercises for the trunk Initiate a stretching and strengthening program for tight hip flexors and weak abductors/external rotators; work the hip within available range of motion Treat precursor conditions (shin splints, metatarsalgia) Initiate a program of strengthening and proprioception exercises for the ankle and calf; encourage low-impact training (Pilates method, pool workouts) Avoid pointe work until strength and skill permit; ensure that pointe shoes are fitted professionally Limit pointe work and pliés if the ankle is swollen or if there is any restricted joint motion Ensure calcium intake is adequate Use proper protective equipment (helmets, throat guards for catchers, breakaway bases) Limit the number of throws and teach proper throwing technique Initiate a program of strengthening for the shoulder and a graduated preseason training program

Basketball Patellar tendinitis Ankle injuries

Initiate a program of stretching, strengthening, and overall conditioning exercises Use braces and taping for ankles

Field Hockey Ankle sprains Knee sprains Back pain (often discogenic or vertebral end plate)

Use proper protective equipment (lace-up ankle braces and/or tape) Initiate a program of strengthening exercises for the quadriceps and hamstrings Initiate a program of exercises to maintain overall flexibility and neutral spine posture

Football Concussions Neck injuries Stingers and burners Low back stress fractures Pelvic contusions Dehydration Heat-related illnesses Gymnastics Repetitive flexion, hyperextension, and compression stresses at the thoracolumbar junction and on the lumbar vertebrae Capsulitis and dorsal impingement at the wrist Radial epiphysitis Osteochondritis dissecans at the elbow Ulnar collateral sprains of the elbow Shoulder instability Tendinitis of the biceps and supraspinatus muscles Ice Hockey Concussions Lacerations about the head and face Acromioclavicular sprains

Teach proper tackling techniques Use proper protective equipment (helmets, face masks, mouthguards)

Ensure frequent water breaks are scheduled in high-temperature/high-humidity conditions Remove helmet frequently Ensure proper hydration during practice and competition Initiate a program of strengthening exercises for the abdomen and trunk and exercises to maintain the spine in a neutral position Use tape or braces to protect the wrist Limit weight bearing and impact on the upper extremities to protect the elbow and wrist Limit extreme or repetitive abduction and external rotation of the shoulder Initiate a program of strengthening exercises for the rotator cuff and scapular stabilizers Use proper protective equipment (mouthguard, well-padded full-cage helmet with good strap around the chin) (Note: Many helmets are equipped with only a strap that goes under the chin) Initiate a program of strengthening exercises for the upper body, especially the rotator cuff and scapular stabilizers, and the quadriceps and hamstrings

Glenohumeral subluxations/dislocations Ligament sprains in the knee Contusions of the quadriceps

Ensure that the net can slide out of the holes in the ice when athletes strike the pipes Increase padding in the thigh guard by using football thigh pads because these are larger and thicker

Soccer Concussion Contusions about the head Tibial shaft fractures

Teach proper “heading” techniques and avoid excessive heading Avoid heading a water-soaked ball Use shin guards

Swimming Rotator cuff impingement/tendinitis Medial patellofemoral pain (from breaststroke) Spondylolysis Tennis Rotator cuff impingement/tendinitis Medial epicondylitis Lateral epicondylitis Spondylolysis

Initiate program of strengthening, stretching, and flexibility exercises for the shoulder, rotator cuff, upper back, and scapular stabilizers Limit use of hand paddles or devices that create added resistance in the water Use fins to provide greater leg drive and reduce demands on the shoulder Initiate a program of strengthening and flexibility exercises for the back, shoulder, and abdominal muscles, especially strengthening the rotator cuff and scapular stabilizers and improving flexibility in the hamstrings and hip flexors Use proper mechanics and equipment to prevent elbow injuries

Continued

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Table 21-15

Sport-Specific Injury Prevention Strategies—cont’d

Common Injuries

Prevention Strategies

Track and Field Stress fractures of the lower extremity Sesamoiditis Shin splints Iliotibial band syndrome

Ensure proper diet and conditioning, gradually increasing speed and intensity Initiate a cross-training program Ensure good shoe fit Avoid downhill running and sudden stops

Wrestling Glenohumeral subluxation/dislocation Acromioclavicular and sternoclavicular sprains Meniscal tears Skin infections (herpesvirus, bacteria [impetigo], tinea corporis) Auricular hematomas (with resultant cartilage deformity [cauliflower ear])

Initiate a preseason program of strengthening exercises for the rotator cuff, scapular stabilizers, quadriceps mechanism, and hamstrings Avoid quick stops in dangerous positions during practice and competition Ensure that mats are cleaned daily with commercial antiseptic solution Teach athletes to seek medical attention for rapid treatment of any questionable skin lesions to prevent spread of infection Conduct skin checks before tournaments Use proper protective equipment (snug-fitting head gear with ear protectors) Drain any blood in the auricle promptly to prevent cartilage deformity

*Injuries and prevention strategies are not listed in any particular sequence. Both lists provide general examples and are not intended to represent each injury or prevention strategy. From Barfield WR, Gross RH: Injury prevention. In Sullivan JA, Anderson SJ, editors: Care of the young athlete, Elk Grove Village, Ill., 2000, American Academy of Orthopaedic Surgeons, American Academy of Pediatrics.

Position: Standing with elbow straight and thumb pointing toward floor; arm adducted 30° toward the midline. Action: Slowly raise arm to eye level and hold for a count of 2 seconds; slowly lower arm. Amount: Three sets of 10 repetitions. Options: A 1/2 -pound to 3-pound weight may be added as child gets stronger.

A

Position: Prone on table with arm hanging straight toward floor. Action: Raise arm (with thumb toward ceiling) out to the side to eye level; hold for a count of 2 seconds and slowly lower. Amount: Repeat 10 times.

B

Position: Prone on table with shoulder abducted 90° and upper arm supported on table with elbow bent. Action: Keeping shoulder and elbow fixed, raise externally rotated arm 90°; hold for 2 seconds and slowly lower. Amount: Repeat 10 times.

C Position: Lie on opposite side with involved arm at side and elbow bent 90°. Action: Keeping elbow fixed to side, raise arm into external rotation; hold for 2 seconds and slowly lower. Amount: Repeat 10 times. Options: A 1/2 -pound to 3-pound weight may be added as child gets stronger.

E

D Position: Prone with arms outstretched and palms flat on table. Action: With head remaining down, raise arms as high as possible overhead; hold for a count of 3. Amount: Repeat 10 times.

Figure 21-123  Shoulder-strengthening exercises. A, Empty can. B, Prone horizontal abduction. C, 90-degree/90-degree external rotation. D, Side-lying external rotation. E, Superman. (From Goldberg B, Pappas AM, Cummings NM: Consideration for sports selection and preparatory training. In Goldberg B, editor: Sports and exercise for children with chronic health conditions: Guidelines for participation from leading pediatric authorities. Champaign, Ill., 1995, Human Kinetics Publishers.)

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Table 21-16

Preconditioning Strengthening Exercises

Table 21-17

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Disease-Specific Benefits of Exercise

Exercise

Target Muscle(s)

Disease

Benefits

The empty can Prone horizontal abduction 90-degree/90-degree external rotation Side-lying external rotation Superman Abdominal curls Quad set Straight leg raise

Supraspinatus Deltoid, infraspinatus, teres minor Teres minor

Cardiac disorders Asthma Cystic fibrosis

Infraspinatus, teres minor Lower trapezius Rectus abdominis Quadriceps Quadriceps: May perform progressive resistance exercises with more weight on ankle Hamstrings: Progressive resistance exercises with more weight on ankle Gastrocnemius/soleus Anterior tibialis

Insulin-dependent diabetes mellitus

Improved cardiac function and aerobic capacity Possible reduced severity of EIB Improved respiratory muscle endurance Improved clearance of airway mucus Increased insulin sensitivity Increased glucose utilization Prevention of obesity Reduction in associated CAD risk factors Maintain muscle strength and endurance Prevention of disuse atrophy Maintain ambulation Prevent joint contractures Improve ambulation and other motor function Improved aerobic capacity Preserve range of motion Decreased joint stiffness Prevent disuse muscle atrophy and osteopenia Possible decreased rate of progression of joint disease Improved blood pressure Improved lipoprotein profiles Improved glucose tolerance

Knee curls Toe raises/toe-walking Heel walking

Modified from Goldberg B, Pappas AM, Cummings NM: Considerations for sports selection and preparatory training. In Goldberg B, editor: Sports and exercise for children with chronic health conditions: Guidelines for participation by leading pediatric authorities, Champaign, Ill., 1995, Human Kinetics Publishers.

noted in normal children and that the benefits well outweigh the risks when careful attention is given to safe sport selection and preconditioning. Furthermore, many such children are actually able to significantly improve their physical health and reduce risk for obesity as a result (Table 21-17). Psychosocial benefits may be even greater in terms of reducing the sense of isolation many such children feel, increasing their level of enjoyment in life and even helping them to forget their disease, for at least a time. The preparticipation evaluation of these youngsters, although similar to that for children in good general health, must focus additional attention on the following: 1. The exact nature of and current status of the child’s disease 2. The effect of the disorder on stamina and skill acquisition 3. The child’s current fitness and skill levels 4. Whether specific sports pose undue risk for injury or complications 5. Whether special considerations are necessary in terms of the following: • Therapeutic intervention • Preconditioning and training • Special protective devices • Modifications in training techniques, rules, duration of play periods, rest periods, etc. Children with PPE findings suggestive of high-risk cardiac abnormalities and children with moderate to severe pulmonary disease need referral to a subspecialist for complete evaluation including exercise stress testing. After the PPE and any necessary subspecialty or physical therapy assessment, level of clearance for participation can be determined, and the child and his or her parents can be informed of necessary limits. Suggestions can be made regarding activities that are not only safe but also at which the child has a realistic chance of success. To facilitate decision-making, the American Academy of Pediatrics, through the Committee on Sports Medicine, has recommended specific participation levels for competitive sports for children and adolescents with either chronic disease or underlying physical defects on the basis of risk (Table

Muscular dystrophy Cerebral palsy Arthritis

Renal disease

CAD, coronary artery disease; EIB, exercise-induced bronchospasm. From Nelson MA, Harris SS: The benefits and risks of sports and exercise for children with chronic health conditions. In Goldberg B, editor: Sports and exercise for children with chronic health conditions: Guidelines for participation by leading pediatric authorities, Champaign, Ill., 1995, Human Kinetics Publishers.

21-18). This classification system has a number of “Qualified yes” recommendations that indicate the need for consultation with relevant subspecialists regarding the individual child’s needs. This is necessitated by the fact that there are often significant differences in level of severity of a disorder and degree of disability, and therefore in ability to participate. Specific examples of clearance decisions might include the following: 1. No restrictions: Small ventricular septal defect or atrial septal defect 2. Clearance with recommendations • Child with exercise-induced asthma—cleared but must take bronchodilator 15 to 20 minutes before exercise; must be allowed to stop and rest if becoming short of breath or otherwise symptomatic • Girl with patellofemoral malalignment—cleared after preparticipation strengthening program 3. Qualified clearance • Down syndrome child who wants to participate in contact sport—cleared pending cervical spine x-rays to rule out atlantoaxial instability 4. Not cleared • For swimming—child with poorly controlled seizure disorder • For contact sport—child with osteogenesis imperfecta, cardiac pacemaker, hemophilia 5. No competitive sports • Child with hypertrophic cardiomyopathy • Child who has undergone open heart surgery within past 6 months • Symptomatic mitral valve prolapse The classification and clearance process is often further defined by specific organizations for the disability. For example, the National Association of Sports for Cerebral Palsy, the

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National Wheelchair Athletic Association, and the International Sports Organization for the Disabled are responsible for deciding which disabled athletes will compete in the Special Olympics, as well as in what category. The need for adaptive equipment is controlled and classified by the organizing agencies and can include such devices as wheelchairs, custom seating devices for boats, and outrigger ski poles. In helping these children with sport selection, the physician must try to achieve a balance between necessary limits and encouraging activity. This is aided by clear knowledge of the nature of the child’s problem and of the demands and risks

of specific sports, as well as information on the level of competitiveness and training demands of the proposed sports program. Although children with chronic conditions may not be able to participate in some sports, there is still a wide array of safe alternative sports available to them (see Tables 21-12 and 21-13; and Goldberg, 1995). In conferring with the child and family, it is generally possible to find one or more activities that are of interest to the child, that are safe for him or her, and at which the athlete has a reasonable chance to improve and succeed. Teaching the child to recognize when to stop and rest (e.g., starting to get short of breath or to tire)

A

B

Position: Sitting on a stool with hips extended and externally rotated. Action: Gradually bend forward toward floor until a gentle stretch is felt

in the lower back; hold for 10 seconds. Amount: Repeat 10 times.

Position: Sitting with back against a wall and soles of feet together. Action: Gently push down on the inside of thighs; hold for count of 30

and then relax.

Amount: Repeat 10 times.

Position: Supine on table. Action: Bring one knee toward chest while keeping

opposite leg straight; gently pull on knee and hold for a count of 30. Amount: Repeat 10 times each side.

C

D Position: Either standing with ipsilateral arm against wall for

support or in prone position. Action: Grab right foot with left hand and gently pull foot toward buttock. Hold for a count of 10. Amount: Repeat 20 times, alternating legs.

E Position: Supine with one leg bent to chest and hands locked behind knee. Action: Slowly straighten knee until gentle stretch is felt; hold for count of 10. Amount: Three sets of 10 repetitions on each side.

Figure 21-124  Stretching exercises to enhance flexibility. A, Lumbar stretch. B, Hip adductor stretch. C, Hip flexor stretch. D, Quadriceps stretch. E, Hamstring stretch. Note: Stretching slowly until resistance is felt and then holding still in that position for 10 seconds are important. (From Goldberg B, Pappas AM, Cummings NM: Consideration for sports selection and preparatory training. In Goldberg B, editor: Sports and exercise for children with chronic health conditions: Guidelines for participation from leading pediatric authorities. Champaign, Ill., 1995, Human Kinetics Publishers.)

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885

Position: Stand a little distance from wall, resting forearms and forehead against wall. Action: Bend one knee while keeping opposite leg straight and foot flat on the floor until

a gentle stretch is felt in calf of straight leg. Hold for a count of 10.

Amount: Three sets of 10 repetitions on each side.

F

G2 Position: Supine on table; assistant must stabilize scapula on the thoracic

wall.

Action: Slowly push arm across chest; hold for a count of 5. Amount: Repeat 10 times.

G1 Position: Sitting with elbows bent 90°. Action: Raise (abduct) arm to shoulder level; pinch shoulder blades

together; rotate arms toward ceiling, hold for a count of 5, then slowly reverse movements. Amount: 25 sets of 5 repetitions.

G3 Position: Supine with assistant stabilizing scapula on thoracic wall and

arm in neutral rotation.

Action: Slowly bring arm up overhead toward table; hold for a count

of 5.

Amount: Repeat 10 times.

Figure 21-124, cont’d F, Gastrocnemius/soleus stretch. G, Shoulder stretches: G1, standing abduction/external rotation; G2, glenohumeral adduction stretch; G3, glenohumeral forward elevation stretch. Note: Stretching slowly until resistance is felt and then holding still in that position for 10 seconds are important. (From Goldberg B, Pappas AM, Cummings NM: Consideration for sports selection and preparatory training. In Goldberg B, editor: Sports and exercise for children with chronic health conditions: Guidelines for participation from leading pediatric authorities. Champaign, Ill., 1995, Human Kinetics Publishers.)

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Table 21-18

Sport Participation Recommendations for Children with Underlying and Chronic Health Conditions*

Condition

May Participate

Atlantoaxial Instability (instability of the joint between cervical vertebrae 1 and 2)

Qualified yes

  Explanation: Athlete needs evaluation to assess risk of spinal cord injury during sports participation Bleeding Disorder   Explanation: Athlete needs evaluation Cardiovascular Disease   Carditis (inflammation of the heart)    Explanation: Carditis may result in sudden death with exertion   Hypertension (high blood pressure)    Explanation: Those with significant essential (unexplained) hypertension should avoid weight and power lifting, body building, and strength training. Those with secondary hypertension (hypertension caused by a previously identified disease) or severe essential hypertension need evaluation. The National High Blood Pressure Education Working Group defined significant and severe hypertension   Congenital heart disease (structural heart defects present at birth)    Explanation: Those with mild forms may participate fully; those with moderate or severe forms or who have undergone surgery need evaluation. The 26th Bethesda Conference defined mild, moderate, and severe disease for common cardiac lesions   Dysrhythmia (irregular heart rhythm)    Explanation: Those with symptoms (chest pain, syncope, dizziness, shortness of breath, or other symptoms of possible dysrhythmia) or evidence of mitral regurgitation (leaking) on physical examination need evaluation    All others may participate fully   Heart murmur    Explanation: If the murmur is innocent (does not indicate heart disease), full participation is permitted. Otherwise, the athlete needs evaluation (see congenital heart disease and mitral valve prolapse)

Qualified yes

No Qualified yes

Qualified yes Qualified yes

Qualified yes

Cerebral Palsy   Explanation: Athlete needs evaluation

Qualified yes

Diabetes Mellitus   Explanation: All sports can be played with proper attention to diet, blood glucose concentration, hydration, and insulin therapy. Blood glucose concentration should be monitored every 30 minutes during continuous exercise and 15 minutes after completion of exercise

Yes

Diarrhea   Explanation: Unless disease is mild, no participation is permitted because diarrhea may increase the risk of dehydration and heat illness. See Fever

Qualified no

Eating Disorders   Anorexia nervosa   Bulimia nervosa    Explanation: Patients with these disorders need medical and psychiatric assessment before participation

Qualified yes

Eyes   Functionally one-eyed athlete   Loss of an eye   Detached retina   Previous eye surgery or serious eye injury    Explanation: A functionally one-eyed athlete has a best-corrected visual acuity of less than 20/40 in the eye with worse acuity. These athletes would suffer significant disability if the better eye were seriously injured, as would those with loss of an eye. Some athletes who previously have undergone eye surgery or had a serious eye injury may have an increased risk of injury because of weakened eye tissue. Availability of eye guards approved by the American Society for Testing and Materials and other protective equipment may allow participation in most sports, but this must be judged on an individual basis

Qualified yes

Fever    Explanation: Fever can increase cardiopulmonary effort, reduce maximal exercise capacity, make heat illness more likely, and increase orthostatic hypertension during exercise. Fever may rarely accompany myocarditis or other infections that may make exercise dangerous

No

Heat Illness History    Explanation: Because of the increased likelihood of recurrence, the athlete needs individual assessment to determine the presence of predisposing conditions and to arrange a prevention strategy

Qualified yes

Hepatitis    Explanation: Because of the apparent minimal risk to others, all sports may be played that the athlete’s state of health allows. In all athletes, skin lesions should be covered properly, and athletic personnel should use universal precautions when handling blood or body fluids with visible blood

Yes

Human Immunodeficiency Virus Infection    Explanation: Because of the apparent minimal risk to others, all sports may be played that the athlete’s state of health allows. All athletes should cover their skin lesions properly, and athletic personnel should use universal health precautions when handling blood or body fluids with visible blood

Yes

Kidney, Absence of One    Explanation: Athlete needs individual assessment for contact, collision, and limited-contact sports

Qualified yes

Liver, Enlarged    Explanation: If the liver is acutely enlarged, participation should be avoided because of risk of rupture. If the liver is chronically enlarged, individual assessment is necessary before collision, contact, or limited-contact sports are played

Qualified yes

Malignant Neoplasm    Explanation: Athlete needs individual assessment

Qualified yes

Musculoskeletal Disorders    Explanation: Athlete needs individual assessment

Qualified yes

21  |  Orthopedics



Table 21-18

887

Sport Participation Recommendations for Children with Underlying and Chronic Health Conditions—cont’d

Condition

May Participate

Neurologic Disorders   History of serious head or spine trauma, severe or repeated concussions, or craniotomy    Explanation: Athlete needs individual assessment for collision, contact, or limited-contact sports and also for noncontact sports if deficits in judgment or cognition are present. Research supports a conservative approach to management of concussion   Seizure disorder, well-controlled    Explanation: Risk of seizure during participation is minimal   Seizure disorder, poorly controlled    Explanation: Athlete needs individual assessment for collision, contact, or limited-contact sports. The following noncontact sports should be avoided: archery, riflery, swimming, weight or power lifting, strength training, and sports involving heights. In these sports, occurrence of a seizure may pose a risk to self or others

Qualified yes

Obesity    Explanation: Because of the risk of heat illness, obese persons need careful acclimatization and hydration

Qualified yes

Organ Transplant Recipient    Explanation: Athlete needs individual assessment

Qualified yes

Ovary, Absence of One    Explanation: Risk of severe injury to the remaining ovary is minimal

Yes

Respiratory Conditions   Pulmonary compromise including cystic fibrosis    Explanation: Athlete needs individual assessment, but generally, all sports may be played if oxygenation remains satisfactory during a graded exercise test. Patients with cystic fibrosis need acclimatization and good hydration to reduce the risk of heat illness   Asthma    Explanation: With proper medication and education, only athletes with the most severe asthma will need to modify their participation   Acute upper respiratory infection    Explanation: Upper respiratory obstruction may affect pulmonary function. Athlete needs individual assessment for all but mild disease. See Fever

Yes Qualified yes

Qualified yes Yes Qualified yes

Sickle Cell Disease    Explanation: Athlete needs individual assessment. In general, if status of the illness permits, all but high exertion, collision, and contact sports may be played. Overheating, dehydration, and chilling must be avoided

Qualified yes

Sickle Cell Trait    Explanation: It is unlikely that persons with sickle cell trait have an increased risk of sudden death or other medical problems during athletic participation, except under the most extreme conditions of heat, humidity, and possibly increased altitude. These persons, like all athletes, should be carefully conditioned, acclimatized, and hydrated to reduce any possible risk

Yes

Skin Disorders (boils, herpes simplex, impetigo, scabies, molluscum contagiosum)    Explanation: While the patient is contagious, participation in gymnastics with mats, martial arts, wrestling, or other collision, contact, or limited-contact sports is not allowed

Qualified yes

Spleen, Enlarged    Explanation: A patient with an acutely enlarged spleen should avoid all sports because of risk of rupture. A patient with a chronically enlarged spleen needs individual assessment before playing collision, contact, or limited-contact sports

Qualified yes

Testicle, Undescended or Absence of One    Explanation: Certain sports may require a protective cup

Yes

*Table 21-18 is designed for use by medical and nonmedical personnel. “Needs evaluation” means that a physician with appropriate knowledge and experience should assess the safety of a given sport for an athlete with the listed medical condition. Unless otherwise noted, this is because of variability of the severity of the disease, the risk of injury for the specific sport, or both. From American Academy of Pediatrics, Committee on Sports Medicine and Fitness, 2000-2001: Medical conditions affecting sports participation, Pediatrics 107:12051209, 2001.

is also important. For further details on evaluation of risks, clearance considerations, and sport selection for individual disorders, see Goldberg (1995). Having helped with sport selection, the physician can also encourage and help assist in devising an individualized and graduated preparticipation conditioning or training program, which can often incorporate rehabilitative physical therapy. He or she can also help to identify sport programs that allow participation with flexibility and modifications. Monitoring the child’s progress over time is also advisable.

Rehabilitation and Return to Play Rehabilitation of the pediatric athlete after injury involves restoring the individual to normal activity so that he or she may return to sports as quickly as possible. Decisions regarding timing of return to play must be made with the athlete’s best interest and safety foremost. This necessitates monitoring of progress, assessment of readiness, and determination (in

consultation with coaches) of the usefulness of additional protective equipment and/or of the need for changes in skill technique or training regimen (especially important for children with overuse injuries). Return to Play after Musculoskeletal Injury Rehabilitation of musculoskeletal injury encompasses the reparative and healing process and assists return to prior level of activity through the use of physical modalities and therapeutic exercises. Inflammation and repair are important phases that have different interventions. In the inflammatory stages of an acute injury, tissue swelling and the inflammatory response require rest or splinting to prevent further injury and protect the injured part during the early phase of the healing process, along with application of ice packs or ice massage and judicious use of oral antiinflammatory agents. Once the acute phase of injury has passed, then protected mobility and the use of heat to mobilize the repair process are appropriate. Use of ultrasound, a high-energy source that when applied to

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the body can produce deep heat and is selectively absorbed by muscle and connective tissue (because of their high water content), can be quite helpful. Therapeutic exercises are effective after initial healing is well under way, although well-moderated early exercises may be used on occasion. These are applied in a graduated manner to bring back strength and flexibility. They fall into the categories of passive, active-assisted, active, active-resistive, isometric, and strengthening exercises. These therapeutic exercises may be viewed as a transition between the acute injury and conditioning exercises. Programs must be specific to the area of injury, goal oriented, appropriately paced, and well supervised by physical therapists or knowledgeable trainers. Return to play is safe when the athlete is symptom free with normal strength, flexibility, and range of motion. Return to Play after Concussion The issue of timing of return to play of the athlete who has incurred a concussion is one of particular importance, the reason being that suffering a second concussion while the athlete is still symptomatic from a first can result in the catastrophic phenomenon known as second impact syndrome. This is characterized by relentless cerebrovascular congestion and edema with loss of autoregulation of cerebral blood flow, usually culminating in herniation and death. Concussion is defined as a condition characterized by temporary impairment of neurologic function after a head injury. Important to remember is that loss of consciousness and amnesia, although common, are not always seen. Other acute symptoms may include dizziness, headache, drowsiness, confusion, disorientation, delayed response times, difficulty concentrating, emotional lability or inappropriateness, visual changes, and impaired coordination. These may be seen singly or in any combination. In the acute situation, obviously any athlete with prolonged loss of consciousness, abnormal neurologic findings, persistently altered mental status, or progression of acute symptoms merits prompt transfer to the hospital for further evaluation and imaging. In milder cases of head injury, a sideline assessment of mental status (orientation, ability to concentrate, and short-term memory) and of neurologic status (strength, sensation, coordination) is indicated to determine whether any signs and symptoms of concussion are present. If these are negative, provocative exertional tests that increase intracranial pressure (push-ups, sit-ups, sprints, or Valsalva maneuver) are performed. If any concussive symptoms are present on mental status or neurologic screening or are provoked by exertional tests, further participation is contraindicated. If symptoms are mild and duration is brief ( F (2 : 1) Asian > Caucasian > African (4 : 2 : 1) 15%

1 in 1500 F > M (3 : 2) No difference 50%

22  |  Pediatric Plastic Surgery



A

B

C

D

891

Figure 22-3  The spectrum of lip clefting. A, Left-sided unilateral cleft lip with minimal soft tissue involvement or “forme fruste.” B, Incomplete bilateral cleft lip. C, Complete left-sided unilateral cleft lip. Note the associated nasal deformity. D, Complete bilateral cleft lip with associated palatal clefting.

in up to one third of children with palatal clefting, under­ scoring the importance of continued audiology surveillance through adulthood. Plastic surgery reconstruction of facial clefts is a multistep endeavor, depending on the type and degree of deformity. The goals are aesthetic improvement, maintenance of normal maxillofacial growth, and restoration of palatal function in an effort to assist normal phonation. Reparative strategies continue to evolve, and controversy exists as to optimal timing and optimal procedure. Typically the cleft lip–nose deformity repair is scheduled at 3 to 6 months of age. For wide unilateral and bilateral clefts, most centers will preoperatively narrow the cleft to obtain better results. Some centers perform a lip adhesion, or simpler approximation of the defect, when the infant is less than 3 months of age; others preoperatively narrow the cleft defect by presurgical orthopedics (PSO), or customized intraoral mouth-nosepieces adjusted by pediatric orthodontists. In some centers palate repair may be combined with the initial lip repair, but in most the palate repair is performed several months later, closer to 12 months of age. Optimal hearing and speech acquisition evolve when palatal integrity is restored before the second birthday. As such, palate closure is typically performed before 2 years of age despite concerns that early surgical interventions involving the midface may

have a negative impact on maxillofacial growth and result in midface retrusion. Studies continue to try to define intervals when palatal procedures can be performed with a minimum of untoward effects. Unique errors of speech articulation are common to patients with cleft palate and are more likely to develop in children who undergo delayed palatal repair. Hypernasal speech, also called velopharyngeal insufficiency, may occur in patients in whom the soft palate is foreshortened and allows air to escape into the posterior nasal vestibule. For these patients a pharyngeal flap procedure may be performed whereby a peninsula of the posterior pharynx is attached to the soft palate. This recruited tissue serves to lengthen the palate and substantially alleviates hypernasal speech. As the child develops an awareness of self, the lip scar resulting from earlier repair often becomes an issue and revisions can be performed to improve the upper lip’s appearance. Between ages 7 and 10, during the time of mixed dentition, an alveolar bone graft is usually indicated to permit normal eruption of the canine on the affected side(s), as well as to restore the maxillary arch, provide nasal support, and close the alveolar cleft. The end of adolescence marks the completion of the child’s facial skeletal growth. At this time residual nasal deformities, which usually involve a broad and inferiorly displaced nasal

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ala, may be targeted by a formal rhinoplasty. Malalignment of the upper and lower jaws may additionally exist because of deficient maxillary growth. Once mandibular growth is complete, surgical advancement of the midface can be performed to restore normal occlusion. As this brief discussion outlines, the family of a newborn with a facial cleft can anticipate numerous procedures spanning the entire childhood of their infant before reaching the end of the restorative journey. The impact of these interventions on the child is certainly profound.

Deformational Plagiocephaly The general term plagiocephaly, derived from the Greek word plagio meaning “oblique,” describes an asymmetric cranium. Etiologies can be intrinsic, such as genetic factors causing premature suture synostosis, or extrinsic, such as mechanical factors in utero or postnatally. Deformational plagiocephaly refers to perinatal occipital flattening due to mechanical forces, with resulting changes in the malleable infant craniofacial skeleton. About 10% of cases are congenital, from pressure causes such as multiple gestations or reduced maternal pelvic volume. Postnatally, occipital flattening is acquired from persistent supine sleep positions. The high incidence (5% to 48% of healthy newborns) is because newborns cannot lift and midline their heads until 3 months of life, when neuromotor control has matured. In addition, supine positioning has become even more popular since the 1990s, when the American Academy of Pediatrics recommended supine sleeping to reduce the incidence of sudden infant death syndrome. In fact, compliance rates with the “Back to Sleep” campaign correlate with the incidence of deformational plagiocephaly, with the white population affected the most, followed by African Americans and Hispanics. Other associated factors are male gender, multiparity, and torticollis, of which the latter is associated with up to 20% of infants with deformational plagiocephaly. Right-sided deformational plagiocephaly is more common, possibly due to right-handed mothers holding infants in a right-side-down position to nurse, causing pressure and flattening of the right occiput. Regardless of the side, once a preferential supine position develops, it becomes habitual and difficult to correct. History usually confirms a normal head at birth and acquired asymmetry that worsens with time. As the occiput becomes flatter, up to 80% of infants will have anterior displacement of the ipsilateral forehead, with concomitant increase in the height of the ipsilateral palpebral fissure, anterior displacement of the ipsilateral ear, and anterior displacement of the ipsilateral cheek, which can be seen from the anterior view (Fig. 22-4). These changes are shaped like a parallelogram on vertex view (Fig. 22-5). Posteriorly, the mastoid skull bases should be symmetric, otherwise there would be suspicion for a true unilateral lambdoid synostosis, described in The Skull, later. Torticollis is often associated with deformational plagiocephaly, with patients typically having contralateral sternocleidomastoid (SCM) muscle “stiffness” rather than true muscle atrophy or fibrosis. For a given SCM, muscle contraction twists the head contralaterally but tilts the head ipsilaterally. In typical deformational plagiocephaly, the contralateral SCM is foreshortened and resists full extension, yielding a contralateral head tilt and ipsilateral head twist that makes the mandibular midline appear to be deviated ipsilaterally to the side of the occipital flattening. Physical examination can reveal tenderness of this contralateral SCM or resistance and agitation on contralateral head twist. Treatment is by careful monitoring and prevention. Whenever not sleeping, infants should be placed prone (“tummy

Figure 22-4  Infant with right-sided deformational plagiocephaly demonstrating anterior craniofacial changes: an advanced forehead, ear, and cheek.

time”) to decrease preferential supine positioning and to increase shoulder girdle strength. Parents should alternate infant supine positions during feeding and sleeping. During feeding, pressure should be avoided on the side of the flattened occiput. Changing the position of stimuli in the crib may also influence the infant to turn to a different side, and a rolled-up towel or foam pinned to the clothes on one side will prevent the infant from sleeping on that side. If there is torticollis, at each diaper change neck exercises should be performed so that the chin can touch each shoulder for at least 10 seconds. These infants are monitored monthly until 6 months of age. For infants older than 6 months or with more severe craniofacial deformities that are not improved with positioning, external cranioplasty with an orthotic device is a more intense treatment method. Before 10 months of age, an orthotic helmet worn 23 or more hours per day allows the malleable infant skull to grow into the shape of the symmetric helmet. Infants are typically monitored every 2 to 3 months for contour and neurologic development. After 10 months of age, helmet therapy has minimal effect.

The Skull Craniosynostosis is defined as premature closing of the sutures between the cranial bones during development, resulting in deformities of the skull. Primary craniosynostosis originates from pathology at the involved suture level, whereas secondary craniosynostosis results from dysgenesis of the underlying brain that then misdirects cranial expansion. The latter usually does not require plastic surgical skull reconstruction as the defect is in the brain itself. The growth of bone can be visualized as occurring at the sutures in a direction perpendicular to the suture’s axis. Therefore when a suture is fused and normal growth is interrupted, resulting compensatory growth is in the direction parallel to the suture, resulting in characteristic skull shapes with their own Greek descriptive terms. So a sagittal craniosynostosis results in abnormal growth parallel to the fused sagittal suture leading to anteroposterior elongation and temporal narrowing, resulting in a scaphocephaly, or “boat-shaped head.” Simple craniosynostosis refers to single suture fusion, whereas complex craniosynostosis is multiple suture fusion (Table 22-2).

22  |  Pediatric Plastic Surgery



Table 22-2

Skull Shape Nomenclature

Name

Suture(s) Involved

Shape

Acrocephaly

Bilateral coronal

Brachycephaly

Bilateral coronal

Oxycephaly

Bilateral coronal

Turricephaly Plagiocephaly Scaphocephaly

Bilateral coronal Unilateral coronal or unilateral lambdoidal Sagittal

Skull height greater anteriorly, slanting downward posteriorly Wide, taller skull shortened in anteroposterior dimension Taller skull, shortened width and anteroposterior dimension Tall skull Asymmetrical skull

Trigonocephaly

Metopic

Kleeblattschädel

Bilateral coronal, lambdoidal, and metopic

Anteroposterior elongation with bitemporal narrowing Narrow, triangular, ridged forehead Cloverleaf deformity

The incidence of craniosynostosis is approximately 1 in 2500 live births across ethnic populations, but varies between genders depending on the sutures involved. In simple craniosynostosis, genetics and fetal environment may both play roles, as twins and infants delivered from breech position have a higher incidence. The genes involved in many of the syndromic craniosynostoses are known and are described later. On physical examination, normal patent sutures (which may overlap slightly) move when palpated by the examiner’s thumbs. Prematurely fused sutures can have a palpable ridge. To confirm, a computed tomography (CT) scan of the face and skull with fine cuts and three-dimensional reconstructions will reveal the skeletal pathoanatomy. Increased intracranial pressure is the main concern of craniosynostosis, although its clinical significance and risk are likely low in simple craniosynostosis, and high in complex and syndromic craniosynostoses. Intracranial hypertension (ICH) could potentially lead to retardation and blindness. Therefore, along with routine neurologic and developmental examinations, at least yearly pediatric ophthalmology funduscopic

Figure 22-5  Vertex views. A, Right-sided deformational plagiocephaly exhibiting a parallelogram head shape. B, Right-sided lambdoid craniosynostosis exhibiting a trapezoid-like head shape.

examinations are mandatory, and more frequently if symptoms of ICH occur. In the syndromic craniosynostosis with midface hypoplasia, patients should also be routinely evaluated for retruded midface causing airway obstruction and obstructive sleep apnea. Treatment usually occurs before 12 months of age, while the skull is relatively malleable and the dura can stimulate osteogenesis. Surgery consists of a bicoronal scalp incision to expose the calvarium; the plastic surgeon then draws the outlines of the bony pieces to make, and the neurosurgeon then elevates the pieces off the brain. When the deformity extends to the supraorbital rim, the elevation of the frontoorbital bar for reconstruction adds considerable length to the operation as both the brain and globes must be protected. The plastic surgeon then reassembles the skull pieces with absorbable plates, screws, and sutures to reshape the head. Many centers also offer limited-incision, endoscopically assisted suturectomy, in which the fused suture is simply cut open and then the patient’s head placed postoperatively into a molding orthotic helmet to allow growth into a normal shape; but this must be done before 6 months of age. Regardless of treatment, patients need to be monitored postoperatively at least yearly, for neurologic, ophthalmologic, and developmental changes, and for recurrence of craniofacial deformities. Nonsyndromic, Simple Craniosynostoses Up to 70% of simple, isolated craniosynostoses occur sporadically. Autosomal dominant and recessive familial patterns have been identified in 8% of cases. If one parent and child are affected, subsequent pregnancies are quoted to have a 50% incidence risk. Simple sagittal synostosis is the most commonly encountered simple craniosynostosis, representing 57% of cases. Coronal synostosis can be unicoronal or bicoronal, and is less common. Metopic synostosis is still less frequent, and true lambdoid synostosis is extremely rare. Sagittal Synostosis Sagittal synostosis, the premature fusion of the sagittal suture, leads to increased anteroposterior length and biparietal narrowing, known as scaphocephaly (Fig. 22-6). Isolated non­ syndromic sagittal synostosis is the most common form of craniosynostosis. It is almost always sporadic, with only 2%

Positional molding

Contralateral occipital bossing

A

893

Unilateral lambdoid synostosis

Ipsilateral ear displaced anteriorly Flattening

Parietal bossing

B

Flattening

Ipsilateral ear displaced posteriorly (variable)

Ipsilateral occipitomastoid bossing

894

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

D

C

Figure 22-6  Sagittal synostosis. Lateral (A) and vertex (B) views of a child with sagittal synostosis. Anterior (C), lateral (D), and vertex (E) views of the craniofacial skeleton of a child with sagittal synostosis.

of patients having a genetic etiology. A 4 : 1 male predominance is recognized, with no race predilection. There is low risk for ICH and abnormal brain development, as the remaining cranial sutures allow compensatory expansion of the neurocranium. Sagittal suture synostosis can range from predominantly anterior fusion, to predominantly posterior fusion, to complete fusion, causing slightly different skull shapes. Isolated anterior sagittal suture fusion will manifest frontal bossing, whereas

E

posterior sagittal suture fusion will exhibit occipital bossing. Bossing of both the frontal and occipital domains with asso­ ciated biparietal narrowing results from complete fusion of the suture. A ridged sagittal suture may be palpable as discussed previously, but intracranial and ophthalmic risks are low. The goals of repair are therefore appearance-related, to reduce the anterior and posterior prominences while widening the biparietal dimension. Anterior and posterior vault remodeling can be

22  |  Pediatric Plastic Surgery



B

A

C

895

D

Figure 22-7  Metopic synostosis. Anterior (A) and vertex (B) views of a child with metopic synostosis. Anterior (C) and vertex (D) views of the craniofacial skeleton of a child with metopic synostosis.

staged or simultaneous. Endoscopic strip suturectomy is also frequently successful. Metopic Synostosis The metopic suture is the first cranial suture to fuse, typically at about 7 months of age. It is the only suture that disappears and is indiscernible in the adult skull. Significantly premature fusion leads to a “keel”-shaped, trigonocephalic head (Fig. 22-7). Metopic synostosis has an incidence of between 1 : 2500 and 1 : 15,000 births, accounting for 10% to 20% of isolated craniosynostoses. Males are affected more often than females at about 3 : 1. Physical examination shows the keelshaped forehead with hypotelorism, upward slanting of the eyelids laterally, and a triangular shape to the forehead and

supraorbital ridge. Although typically isolated, 8% to 15% of children affected with trigonocephaly will have associated anomalies involving the extremities or the central nervous, cardiac, or genitourinary system. A ridged metopic suture may be palpable. These patients may have higher risk of astigmatism and strabismus. Although its incidence in this population is less than 4%, the presence of intracranial hypertension must be excluded. Some literature suggests cognitive delay in these patients not attributable to the sequelae of ICH, but the data are conflicting. The severity of the deformity indicates the need for surgery. For instance, in some families the infant has slightly premature metopic fusion at 5 or 6 months of age, resulting in a prominent forehead without significant keel-shape or hypotelorism,

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occipitomastoid bossing. This view best distinguishes rare true lambdoid suture synostosis from common deformational plagiocephaly. True lambdoid craniosynostosis requires cranial vault remodeling, whereas deformational plagiocephaly is treated by positioning or helmet therapy. Coronal Synostosis The coronal sutures may be affected either unilaterally or more infrequently bilaterally, resulting in synostotic anterior plagiocephaly or anterior brachycephaly (“short skull” in the anteroposterior dimension that is wider and taller), respectively. Bicoronal synostosis is more often associated with a syndrome. Nonsyndromic unilateral coronal synostosis has an estimated incidence of 1 in 2500 live births and accounts for 15% to 30% of cases of craniosynostosis. Its etiology is unknown, but proposed causes include fetal head constraint, thyrotoxicosis, and certain vitamin deficiencies. Synostosis of a single coronal suture results in a widened ipsilateral palpebral fissure, an elevated and anteriorly positioned ipsilateral ear, nasal root deviation toward the affected suture, chin deviation away from the affected suture, and a superiorly and posteriorly displaced supraorbital rim and eyebrow known as the “harlequin eye” deformity (Fig. 22-9). Bilateral craniosynostosis restricts anteroposterior growth and causes retrusion of the fronto-orbital region, leading to compensatory widening and raised height of the anterior cranium; the result is described as brachycephaly, acrocephaly, oxycephaly, or turricephaly (Table 22-2). In bilateral craniosynostosis, there is increased incidence of ICH. Treatment of coronal synostosis includes anterior cranial expansion with vault remodeling and fronto-orbital advancement. Some centers perform suture craniectomy with helmet therapy, especially for the unicoronal coronal synostosis, where symmetry is difficult to achieve.

Figure 22-8  Lambdoid synostosis. Posterior view of the craniofacial skeleton of a child with left-sided lambdoid synostosis.

and no surgery is indicated. Severe shape changes can be corrected by anterior cranial vault remodeling with reshaping of the triangular fronto-orbital rim. Lambdoid Synostosis Lambdoid synostosis may involve one or both of the lambdoid sutures and is the rarest of the craniosynostoses. When it occurs, it is usually unilateral and causes a synostotic posterior plagiocephaly. A raised ridge may be palpable over the involved suture, and there is often a mastoid bulge of the affected side of the occiput with contralateral parietal bossing (Fig. 22-8). From the vertex view (see Fig. 22-5), a trapezoid head shape is seen, with contralateral frontal bossing, posterior displacement of the ipsilateral ear, and ipsilateral

A

Multiple Suture Synostoses The most severe skull dysmorphology and ICH result from multiple suture fusion. When the coronal and lambdoid sutures fuse bilaterally with fusion of the anterior metopic

B

Figure 22-9  Unilateral coronal synostosis. A, Photograph of a child with left-sided unilateral coronal synostosis. B, Anterior view of the craniofacial skeleton of a child with right-sided unilateral coronal synostosis.

22  |  Pediatric Plastic Surgery



Table 22-3

Gene Mutations Associated with Craniofacial Syndromes

Gene/Protein

Syndrome

FGFR1 FGFR2

Pfeiffer Apert Crouzon Pfeiffer Jackson-Weiss Beare-Stevenson Muenke Crouzon with AN Saethre-Chotzen Treacher Collins

FGFR3 TWIST Treacle

Chromosome 8 10 10 10 10 10 4 4 7 5

AN, acanthosis nigricans; FGFR, fibroblast growth factor receptor.

suture, compensatory bulging at the remaining open sagittal suture leads to a trifoliate appearance described as the cloverleaf deformity, or kleeblattschädel. Although multiple suture synostoses can be sporadic, they are much more likely to be associated with syndromes. Syndromic, Complex Craniosynostoses (Table 22-3) Craniosynostoses involving more than one suture are much rarer, tend to be syndromic, and are usually caused by sporadic mutations, although if transmitted tend to be autosomal dominant. The most characterized are the acrocephalosyndactyly syndromes, which share the features of bicoronal craniosynostosis, midface hypoplasia, abnormal facies, and limb abnormalities. The genetic defect usually inactivates fibroblast growth factor receptor (FGFR) genes that are involved in restraining bone growth, leading to hypermorphic bone development. FGFR1, -2, and -3 are differentially involved in these phenotypic syndromes. The key craniofacial issues are that all of these patients have bicoronal craniosynostoses with retruded supraorbital rims, and midface hypoplasia with weak infraorbital support, resulting in shallow orbits and high risk of exorbitism and exposure keratitis that can lead to blindness, and other ophthalmologic problems. Craniofacial anomalies such as cleft palate, mandibular growth problems, stylohyoid calcification, and other cranial suture involvement are common. There is variability in neurosurgical conditions such as ICH; hydrocephalus; neurocognitive development; and cranial base, cervical spine, and other vertebral abnormalities. Inner ear problems such as otitis media requiring myringotomy tubes; and inner nose and airway issues such as choanal, tracheal, and laryngeal abnormalities require consultation with an otolaryngologist. Cardiac, renal, and other visceral anomalies are also common. Apert Syndrome Apert syndrome is autosomal dominant with incomplete penetrance and a birth prevalence of 5.5 to 16 per 1 million live births. The majority of cases are sporadic; more than 98% of patients with Apert syndrome have identifiable mutations in the FGFR2 gene, resulting in multiple anomalies in all systems (Fig. 22-10). Two distinguishing features include symmetric complex syndactylies of the hands and feet, and cognitive defects. Their bicoronal synostosis results in brachycephaly with a high cranium that is described as turricephalic. They have delayed closure of their metopic and sagittal sutures between 2 and 4 years of age, resulting in hypertelorism. Their abnormal facies have more severe features, including ptosis and downward-slanting palpebral fissures. Their midface deficiency is often associated with hypoplastic or stenotic choanae, leading to airway obstruction requiring tracheostomy. A sleep

897

study can diagnose obstructive sleep apnea requiring treatment with a continuous positive airway pressure device. Their shallow orbits can result in proptosis, but patients with Apert syndrome also commonly have strabismus with a V-shaped pattern: exotropic upward gaze divergence with esotropic downward gaze, as well as other ophthalmic problems. Although significant hydrocephalus is not common, the risk of neurosurgical abnormality is high and therefore baseline magnetic resonance imaging (MRI) is recommended along with the usual CT scan to evaluate the bone on a regular basis. Seventy-two percent of children with Apert syndrome are noted to have brain anomalies, leading to developmental delays and cognitive deficits. Infants operated on before their first birthday but after 3 months of age are more likely to have intelligence quotients (IQs) greater than 80. Unfortunately, children who underwent similar procedures before 3 months of age trended toward lower IQs and required additional operations. A hallmark of Apert syndrome is complex symmetric syndactyly of the hands and feet, especially of the middle three digits, leaving the first and fifth digits separate; this results in a “mitten hand” appearance (Fig. 22-10, B). Plastic surgeons can separate the digits to produce a more functional hand. Finally, the skin of patients with Apert syndrome may display excessive sweating. Patients have been shown to have an increased number of sweat glands and prominent sebaceous glands. During adolescence the skin becomes oily, and in 70% of patients acne erupts on the face, chest, and back. Crouzon Syndrome Crouzon syndrome is another autosomal dominant acrocephalosyndactyly with incomplete penetrance that presents as a sporadic new mutation 60% of the time. The birth prevalence is 15 to 16 per 1 million live births and is also associated with mutations in FGFR2. Its distinguishing features include normal extremities. The heads of patients with Crouzon syndrome are overall brachycephalic from the bicoronal synostosis although other sutures can be involved, leading to other skull shapes (Fig. 22-11). Their midface hypoplasia similarly leads to proptosis, and also an illusion of mandibular prognathism with a severe underbite called class III malocclusion. Intracranially they may have anomalous venous drainage, and are more likely to have hydrocephalus than are patients with Apert syndrome. They are also more likely to have Chiari I malformations, likely due to their tendency to have early closure of the lambdoid sutures; because of this an early MRI scan is recommended. Some may also develop suture fusion postnatally, and thus early CT scans may show relatively patent coronal sutures. Some variants of Crouzon syndrome are associated with acanthosis nigricans, a verrucous hyperplasia and hypertrophy of the skin with associated hyperpigmentation and accentuated skin markings. It is distributed in the axillae, neck, chest, abdomen, breasts, perioral and periorbital regions, and nasolabial folds. Multiple melanocytic nevi are also frequently noted over the face, trunk, and extremities. Pfeiffer Syndrome Pfeiffer syndrome, a type of acrocephalosyndactyly, has the distinguishing characteristic of broadened thumbs and toes. Mutations in the FGFR1 and FGFR2 genes have been implicated. Most patients have bicoronal synostosis with brachycephaly and midface hypoplasia with associated ocular findings. The distinguishing feature is broad, symmetric thumbs that deviate radially, and great toes that deviate medially, often with phalangeal malformations and simple soft tissue syndactyly (Fig. 22-12).

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

D Apert Syndrome: Features and Findings

Apert Syndrome: Features and Findings

Craniofacial Brachycephaly due to coronal suture synostosis Hypertelorism Proptosis V-pattern exotropia Midface hypoplasia Choanal stenosis Cleft palate Stylohyoid calcification Conductive hearing deficits Extracranial Skeletal Symmetrical syndactyly of the hands Cervical spine fusion Shortened humeri

Other Cardiovascular anomalies Hydronephrosis Cryptorchidism Tracheal anomalies Obstructive sleep apnea Diffuse acne

Figure 22-10  Apert syndrome. A, Lateral view of a child with Apert syndrome. B, Syndactyly of the hand. Anterior (C) and lateral (D) views of the craniofacial skeleton of a child with Apert syndrome. Note the expansive anterior fontanelle in the anteroposterior view.

There are some subtypes with more severe symptoms, including kleeblattschädel deformity (cloverleaf skull) with hydrocephalus, and more severe midface hypoplasia with ICH, mental retardation, and a poorer prognosis. Jackson-Weiss Syndrome Jackson-Weiss syndrome is an autosomal dominant acrocephalosyndactyly that is associated with mutations in FGFR2. Patients usually have coronal synostosis with a broad or

towering forehead, hearing deficits, and foot anomalies such as short metatarsals. Their hands are usually normal. Saethre-Chotzen Syndrome Saethre-Chotzen syndrome has similar characteristics to the Jackson-Weiss syndrome but does not involve the FGFR3 gene family. The etiology involves a mutation in the TWIST gene with a pattern of autosomal dominant inheritance. Patients frequently have coronal craniosynostosis with

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Crouzon Syndrome: Features and Findings

Craniofacial Brachycephaly due to coronal suture synostosis Hydrocephaly with Chiari I malformation Hypertelorism Proptosis Midface hypoplasia “Beaked” nose

Cleft palate Stylohyoid calcification Conduction and/or neurosensory hearing deficit Extracranial Skeletal Cervical spine fusion Other Acanthosis nigricans

Figure 22-11  Crouzon syndrome. (A) Frontal view; (B) anterior skeletal view; (C) lateral skeletal view

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B Pfeiffer Syndrome: Features and Findings Type I Craniofacial Acrocephaly, or turribrachycephaly (oxycephaly), due to coronal suture synostosis Kleeblattschädel sutural deformity Hydrocephaly Midface hypoplasia “Beaked” nose Hypertelorism Proptosis Blindness Choanal atresia Mental retardation Extracranial Skeletal Broad, radially deviated thumbs Broad, medially deviated great toes Soft tissue syndactyly Elbow ankylosis

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Figure 22-12  Pfeiffer syndrome. (A) Lateral view; (B) anterior skeletal view; (C) great toe anomalies.

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brachycephaly. Their facies include abnormally downwardsloped palpebral fissures with ptosis, low forehead hairline, and ear abnormalities. They often have incomplete syndactyly of their hands.

The Midface Midface craniofacial syndromes can be quite complex because they affect many facial structures including the eyes, ears, soft tissues, and skeleton of the midface. Accordingly, the defects are among the most challenging to reconstruct, with patients requiring multiple procedures and interventions. These syndromes are often also associated with mandibular hypoplasia, which can lead to upper airway obstruction. In general, securing the airway and feeding will be priorities in the neonatal period and may necessitate a tracheostomy and gastrostomy tube placement. Early intervention with an otologist to optimize hearing is important. Although pediatric plastic surgery reconstruction of the midface and mandible is usually performed as late as possible to avoid interrupting normal skeletal growth, exposure of sclerae from midface hypoplasia or airway obstructive symptoms (such as sleep apnea) could warrant earlier augmentation of the maxilla or mandible. External ear reconstruction is usually performed at about 6 to 7 years of age, when there is enough rib cartilage for the procedure and the patient is mature enough to tolerate the three- or four-stage procedure, each stage separated by several months. Mandibulofacial Dysostosis (Treacher Collins Syndrome) Treacher Collins syndrome (TCS) affects mainly the midface and mandible, and is suspected to have an incidence of approximately 1 in 50,000 live births (Fig. 22-13). Inheritance is autosomal dominant with variable expression, but probably about half the cases are sporadic new mutations. The genetic defect is in the gene that encodes the protein Treacle, which is thought to affect the development of the first branchial arch (mandible), second branchial arch (maxilla), and nasal placode in the developing fetus. The facial dysmorphology tends to be bilateral with involvement of the mandible, malar region (cheek), eyes, and ears. There is both bony and soft tissue hypoplasia of the malar region or zygoma, resulting in a lateral facial cleft. This extends to the lateral orbit walls, leading to temporal concavity, reduced bitemporal distance, and reduced cephalic length. Thus the neurocranium may appear misshapen, although there is no craniosynostosis. Intelligence is usually average to above average. Overlying these deficient orbitozygomatic regions are, frequently, abnormalities in eyelid structure, preauricular cheek skin, temporal fossa, and external ears. The palpebral fissures are downwardly slanted and the lower eyelids can have colobomas, lack of eyelashes, or hypoplasia. External ears are often symmetrically malformed or malpositioned, with stenosis or atresia and parallel middle ear abnormalities. The latter causes a conductive hearing loss that can usually be improved by hearing aids (see Chapter 23). The mandible is usually hypoplastic, resulting in retrognathia, malocclusion, temporomandibular joint (TMJ) dysfunction, and misformed muscles of mastication, resulting in an open bite. A type I mandible refers to a retrognathic mandible with minor anterior open bite and mild glenoid fossa hypoplasia, whereas the worse grade, type III, is a free-floating severely retrognathic mandible without any articulation to the cranial base (lack of TMJ), usually requiring a postnatal tracheostomy. In between are type IIA with moderate hypoplasia but intact TMJ, and type IIB with greater hypoplasticity and a nonfunctioning TMJ.

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B Mandibulofacial Dysostosis (Treacher Collins Syndrome): Features and Findings Craniofacial (Usually Bilateral Findings) Bilateral zygoma hypoplasia Bony deficiency of lateral orbits Maxillary hypoplasia Choanal stenosis Cleft palate with or without cleft lip Downward-slanting palpebral fissures Colobomas Lower eyelid hypoplasia Absent lower eyelashes

Preauricular hair Bilateral external ear deformities Bilateral external auditory canal   stenosis or atresia Auditory ossicle hypoplasia or ankylosis Conductive hearing deficits Retrognathia due to mandibular hypoplasia Bite malocclusion Temporomandibular joint dysfunction

Figure 22-13  Mandibulofacial dysostosis. A, Photograph of a child with mandibulofacial dysostosis. B, Anterior view of the craniofacial skeleton of a child with mandibulofacial dysostosis.

Given the midface anomalies and mandibular hypoplasia, a CT scan of the head and face is usually recommended. Mandibular hypoplasia leads to glossoptosis and airway compromise, compounded by midface hypoplasia with some degree of choanal stenosis or atresia. Other early issues concern feeding and corneal exposure. Non–plastic surgery specialists can assist in tracheostomies, placement of gastrostomy tubes, ophthalmic assessment, and hearing aids. Pediatric plastic surgeons are involved in cleft palate repair if

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indicated, and reconstruction of the hard and soft external structures of the face. A cleft palate should be treated as described previously, timed around the time of developing speech. Unless corneal exposure is threatened, most reconstruction is delayed as long as possible, to avoid inevitable recurrence as the face ages. In symptomatic retrognathia where glenoid fossae are present (types I, IIA, IIB), the mandible can be lengthened by distraction osteogenesis, in which mandibular osteotomies are subsequently serially lengthened by hardware. This is usually performed at early skeletal maturity (females, ages 13 to 15; males, ages 15 to 16). Type III deformities first need TMJ reconstruction at about age 6 to 10 years, before the mandible lengthens. A rhinoplasty can improve mid-dorsal humps and wide nasal bridges, but should usually be postponed until after jaw surgery, as the latter moves the base of the nose. Eyelid defects can be repaired with skin or muscle flaps. Ear reconstruction, described below, requires an autologous rib cartilage graft and multiple surgical stages. The hollow temporal fossa and lateral cleft can be augmented, but there is a high resorption rate. In summary, TCS yields significant multiple perimaxillary and mandibular anomalies with a range of severities, and usually leads to tracheostomies and multiple reconstructive efforts. The underlying genetic anomalies make it impossible to regain a normal appearance, but improvements can usually be made. Acrofacial Dysostosis (Nager Syndrome) In 1948 Nager and de Reynier characterized a series of infants with branchial arch deformities similar to TCS but with, in addition, upper extremity anomalies (Fig. 22-14). It is, similarly, autosomal dominant and usually presents sporadically, with prevalence twice as frequent among males as females. It presents similar craniofacial abnormalities, and its distinguishing feature is the presence of preaxial (radial) abnormalities, including radioulnar synostosis (proximal fusion) and hypoplasia or aplasia of the thumbs. Other findings include toe abnormalities and visceral involvement. Patients progress developmentally, provided hearing deficits are addressed by otolaryngologists. Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome and Craniofacial or Hemifacial Microsomia) The oculo-auriculo-vertebral syndrome, or spectrum, is a collection of facial anomalies that are believed by many experts to represent a spectrum of phenotypes exhibited secondary to a heterogeneous developmental field defect (Fig. 22-15). It includes several named entities including Goldenhar syndrome, craniofacial microsomia, and hemifacial microsomia. Classically, hemifacial microsomia defined a condition that affected primarily ear, oral, and mandibular development; Goldenhar syndrome additionally included vertebral anomalies and epibulbar dermoids. They are likely variants of a common underlying developmental aberration. The findings witnessed in Goldenhar syndrome and hemifacial microsomia are referred to as the oculo-auriculo-vertebral spectrum, the incidence of which varies from 1 in 3500 to 19,500 live births. A male-to-female ratio of 3 : 2 is observed, with a similar ratio of lateralization favoring the right side of the body. Up to one third may have bilateral involvement, but still be asymmetric. Most cases are sporadic, although familial patterns have been identified. Findings may be divided into those affecting the cranio­ facial domain, the central nervous system, the skeleton, the cardiovascular system, and other systemic findings. The majority of cases have some degree of facial asymmetry that may become apparent only as the child grows. The acronym

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Acrofacial Dysostosis (Nager Acrofacial Dysostosis (Nager Acrofacial Dysostosis Syndrome): Features and Findings Syndrome): Features(Nager and Findings Syndrome): Features and Findings Craniofacial (Usually Bilateral Findings) Bilateral zygoma hypoplasia Bony deficiency of lateral orbits Maxillary hypoplasia Choanal stenosis Cleft palate with or without   cleft lip Downward-slanting palpebral   fissures Colobomas Lower eyelid hypoplasia Absent lower eyelashes Preauricular hair Bilateral external ear deformities

Bilateral external auditory canal   stenosis or atresia Auditory ossicle hypoplasia or   ankylosis Conductive hearing deficits Severe mandibular hypoplasia Bite malocclusion Temporomandibular joint   dysfunction Extracranial Skeletal Radioulnar synostosis Thumb hypoplasia or aplasia

Figure 22-14  Acrofacial dysostosis. A and B, Photographs of children with acrofacial dysostosis.

OMENS describes the major findings of hypoplasia of the orbit, mandible, external ear, nerve (facial), and soft tissue, usually asymmetrically. The maxillary, temporal, and malar bones are hypoplastic and flattened on the affected side. The mandible may be either aplastic or hypoplastic. Smooth epibulbar dermoids, often with fine hairs, are common unilateral findings inferotemporally at the limbus of the eye. Unilateral colobomas of the upper eyelids and oculomotor disorders including esotropia and exotropia are other ocular findings. The region of the ear is always involved to some degree and may exhibit preauricular appendages, pretragal blind-ended fistulae, and hypoplastic or malpositioned pinnae. The external auditory canal may be atretic or stenotic, leading to conductive hearing impairment, which is far more common than neurosensory losses. Involvement of nearly all cranial nerves has been reported, with lower facial weakness a frequent observation. There can be a lateral facial cleft at the oral commissure, also known as macrostomia. The palatal and tongue muscles may be hypoplastic and paralyzed, affecting feeding success. Furthermore, a unilateral or bilateral cleft lip and/or palate occurs in up to 15% of infants. Neurosurgical issues such as brain anomalies, spine deformities, or congenital heart disease may also be present, and thus these patients often need a complete tertiary workup.

The Mandible Isolated mandibular malformations are rarer, with the exception of Pierre Robin sequence (PRS). PRS is not a syndrome; rather, it is an original gestational event that likely leads to

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis Oculo-Auriculo-Vertebral Spectrum: Oculo-Auriculo-Vertebral Spectrum: Oculo-Auriculo-Vertebral and Findings Features and Findings Features and Findings Spectrum: Features

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Craniofacial Facial asymmetry Unilateral maxillary, temporal, and   zygomatic hypoplasia Epibulbar dermoids with fine hairs Unilateral colobomas of upper eyelids Esotropia or exotropia Preauricular appendages Pretragal fistula External ear deformities External auditory canal stenosis or atresia Conductive hearing deficits Macrostomia due to mandibular   dysgenesis Lateral facial cleft Cleft lip with or without cleft palate Central Nervous System Seventh cranial nerve palsy Microcephaly Hydrocephaly Encephaloceles

Extracranial Skeletal Cervical vertebral fusion Spina bifida Hemivertebrae Butterfly, fused, or hypoplastic vertebrae Scoliosis Rib anomalies Cardiovascular Ventricular septal defect Tetralogy of Fallot Transposition of the great vessels Coarctation of the aorta Pulmonic stenosis Dextrocardia Other Pulmonary dysplasia Tracheoesophageal fistula Renal anomalies Imperforate anus

Figure 22-15  Oculo-auriculo-vertebral (OAV) spectrum. A and B, Photographs of a child with oculo-auriculo-vertebral spectrum. C, Anterior view of the craniofacial skeleton of a child with right-sided OAV spectrum anomalies (hemifacial microsomia).

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sequential developmental sequelae. It may appear as an entity alone or in association with other syndromes. Pierre Robin Sequence PRS describes symptomatic microretrognathia (small man­ dible) that leads to glossoptosis (tongue falling posteriorly)

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resulting in airway obstruction (Fig. 22-16). The glossoptotic tongue in the developing fetus often interrupts palatal shelve fusion, typically resulting in a U-shaped cleft palate. Symptomatic airway obstruction demands close observation (pulse oximetry, blood gases, sleep studies) and possible intervention.

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Figure 22-16  Pierre Robin sequence. A, Lateral view of a child with Pierre Robin sequence, characterized by severe micrognathia and cleft palate. B, Lateral view of the craniofacial skeleton of a child with Pierre Robin sequence. Note the small, retruded mandible. (A, Courtesy Wolfgang Losken, MD.)

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PRS may occur as frequently as once in 2000 live births, with reported mortalities ranging from 19% to 65%, the result of airway issues. The mandibular hypoplasia may be due to the intrauterine environment, but coexisting malformation syndromes, such as Stickler syndrome, can play a role as well. PRS is associated with a syndrome in 25% to 40% of cases. Glossoptotic airway obstruction leads to substernal breathing, stridor, and distress. The prone position or a nasopharyngeal airway can temporize the airway obstruction. Because of respiratory insufficiency, up to 55% of infants with PRS may experience feeding difficulties, including reflux. Antireflux medication is almost always necessary, and those with significant hypoxemia during feedings or inadequate caloric intake or weight gain require gavage feeding. A swallow evaluation may reveal aspiration or worse, with the tongue likely contributing. If airway obstruction occurs at rest or with feeding, exploration under anesthesia by otolaryngology is necessary to rule out primary tracheolaryngeal pathology. Because a tracheostomy is a great social burden to caregivers and nursing resources, pediatric plastic surgeons are involved with manipulating the soft and hard tissues to restore more normal anatomy. Often mandibular growth will catch up during the temporizing stage. Tongue–lip adhesion (TLA), or glossopexy, involves layered suturing of the tongue to the lower lip to reduce glossoptosis. Earlier versions of the surgery resulted in a high dehiscence rate; at present the plastic surgeon will often include muscular sutures, bolster with “buttons” over sutures, and allow prolonged intubation to improve healing. TLA can allow transition from nasogastric tube feeding to oral feeding and hence avoid a tracheostomy. At the time of the cleft palate repair, usually at about 9 to 12 months of age, the adhesion is taken down. This coincides nicely with the amount of time necessary for infant mandibular growth to overcome its contribution to airway compromise. Should a TLA fail to alleviate airway obstruction, either distraction of the mandible or a tracheostomy is indicated. As described previously, mandibular osteotomies followed by distraction osteogenesis can lengthen the mandible. As a last resort, tracheostomy bypasses the obstructed nasopharynx. Outcomes for children with PRS vary. Advances in monitoring have led to improved outcomes, and generally children do well. Strategies for initial and long-term management continue to evolve, however. As such, care plans that foster optimal outcomes for these children should be individually developed.

External Structures of the Face Whereas other subspecialists take care of the eye (globe), the inner ear (eardrum, ossicles, cochlea), the nasal sinuses and choanae, the laryngotracheal system, and the dentition, pediatric plastic surgeons are usually consulted to repair and reconstruct the external structures of the face: eyelids, outer ears (pinnae), nose and septum, lips and tongue, nerves, and muscles. Among their other functions, these structures constitute our unique human appearance. Skeletal diagnosis and treatment are described in Craniomaxillofacial Trauma (later). As for soft tissue, we briefly discussed cheiloplasty of the lips and rhinoplasty of the nose in the previous section Cleft Lip, Nose, and Palate, but similar principles are applicable in treating acquired defects of the lips and nose, such as from trauma or lesion removal. Tongue manipulation, described previously in the section The Mandible, also includes shaping the tongue such as in macroglossia (e.g., Beckwith-Wiedemann syndrome). Although there are many specific external facial problems with well-described solutions, there are such a large variety of unique potential

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defects, especially given the random nature of trauma, that basic principles of soft tissue reconstruction (described later in this chapter) may need to be creatively put together for a customized solution. Because of space limitations, we highlight the external ear as an example of an external face defect with a well-described reconstruction. Abnormalities of the ear appear in many of the craniofacial syndromes described previously, including craniofacial microsomia and Goldenhar syndrome. Other isolated forms of microtia exist, and although there are usually lobule-like vestiges, microtia can range from hypoplastic ears to full anotia (Fig. 22-17, A). There are usually three or four stages of surgery, each separated by at least several months, to accomplish the reconstruction. The first stage is the harvest of autologous rib cartilage, which is then carved, constructed, and placed as a graft under very thin auricular skin (Fig. 22-17, B). The rest of the stages include a skin graft to elevate the construct and soft tissue rearrangements to create an earlobe and tragus to finish the details of the ear (Fig. 22-17, C and D). Other ear abnormalities include prominent ears and constricted ears. Prominent ears are usually due to a loss of the antihelical fold (Fig. 22-18, A) and an excessive conchoscaphal angle (Fig. 22-18, B), and reconstructive efforts are directed toward correcting these issues (Fig. 22-18, C and D). Constricted ears refer to the variety of helical abnormalities referred to as lop ear, cup ear, hidden ear, and others. These repairs are based on soft tissue rearrangements but may need cartilage grafts. Extremely constricted ears may also be treated as microtia, with staged reconstruction as described previously.

Craniofacial Summary Clefting and craniofacial syndromes represent a number of interesting and at times challenging medical and surgical entities that fortunately afflict a relatively small number of newborns. Medical science has only recently begun to delineate why these developmental anomalies occur and, unfortunately, may have little to offer in the way of intervention owing to the early occurrence of the developmental miscues. The impact on those affected and their families can be devastating. It is encouraging, however, that early thorough evaluations and appropriate interventions can significantly benefit the lives of these children. Many health care providers are pivotal to the success of these endeavors. Indeed, multidisciplinary teams consisting of plastic surgeons, nurse care coordinators, speech therapists, otologists and audiologists, orthodontists, occupational therapists, psychologists, and social workers convincingly optimize the outcomes for these children and should be enlisted where available.

CRANIOMAXILLOFACIAL TRAUMA Management of craniofacial trauma in children differs from that for adults in that the pediatric craniofacial skeleton is still developing and growing. Relative to adults, there is more cartilage, cancellous bone, and malleable growth centers, resulting in more absorption of energy and less likelihood of fracturing. Even when there are fractures, they are more likely to be partial (greenstick) than complete. Other major differences include the higher skull-to-face ratio, lack of pneumatized sinuses, and presence of adult tooth buds in the maxilla and mandible. Finally, children heal faster, so the decision to repair fractures needs to be made sooner, and the posttreatment immobilization period made shorter. The facial skeleton develops more slowly than the cranial skeleton, such that facial dimensions at 5 years of age are approximately 80% of an adult’s face. The growth then

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Figure 22-17  Ear reconstruction. A, Microtia; B, constructed costal cartilage framework beneath scalp skin flap; C, ear lobe transposition stage; D, completed ear reconstruction.

plateaus until the pubertal growth spurt, which lasts until about age 17, when another plateau is reached that eventually halts. Overall, the upper third grows fastest because of the development of the brain and orbits, the middle third is next, and the lower third, or mandible, is the last to finish growing after puberty. Modern methods of open reduction internal fixation with titanium plates and screws could restrict growth. In addition, pediatric maxillae and mandibles contain both pediatric and adult teeth, making it imperative to avoid hardware that could injure unerupted permanent teeth. Therefore, wires and absorbable plates are preferred whenever possible. Because of the potential growth disturbance, pediatric patients

with craniofacial fractures are monitored on a yearly basis until skeletal maturity. The evaluation of any trauma patient must still progress according to Advanced Trauma Life Support (ATLS) guidelines, including securing the airway and circulation before proceeding to the focused craniofacial examination. Brain trauma and cervical spine injury must be ruled out, as there is a high incidence of concomitant injury that may require neurosurgical consultation. Orbital examination including visual assessment and extraocular movement must be undertaken, which could lead to an ophthalmologic consultation. The nasal septum should be inspected visually to rule out a

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Figure 22-18  Prominent ear. A, Prominent ear with absence of antihelical fold. B, Prominent ear with excessive conchoscaphal angle. C, Frontal view of repaired prominent ear. D, Lateral view of repaired prominent ear: note the newly formed antihelical fold.

septal hematoma that could lead to cartilage necrosis; the dental occlusion should be examined as well, and the patient asked about symptoms of malocclusion. Although requiring more cooperation than some children can muster, facial animation should be checked for symmetry, and facial sensation can be tested in the trigeminal nerve distribution (V1, forehead; V2, cheeks; V3, chin). Palpating the facial skeleton for tenderness or bony step-offs needs to include the forehead, periorbital borders, cheeks, nasal bones, and jaws. Suspicion for fractures warrants a fine-cut noncontrast CT scan of the head and face for definitive diagnosis. Finally, preinjury photos should always be obtained if possible for comparison, as facial asymmetries and dental problems are common. Although craniofacial trauma deals with both bony and soft tissue injuries, in this section we discuss skeletal injuries only, as soft tissue principles are discussed elsewhere in this chapter. However, the facial nerve (cranial nerve VII) and parotid duct are specialized structures that must be examined if in the zone of injury. In addition, the pediatric skeleton also contains growth centers that drive the growth of the craniofacial region, with the overlying soft tissue following that growth.

Skull and Forehead Fractures The ratio of cranium to face is greater in younger patients, and thus skull fractures are more common than facial fractures at younger ages. The frontal sinus does not form until about 5 or 6 years of age, and then pneumatization continues until well past puberty. This lack of a frontal sinus allows fractures to the forehead and skull to directly transmit their forces to the skull base, orbit, and zygoma, resulting in an extended skull fracture or an “oblique craniofacial fracture.” When minimally displaced, skull fractures can be treated conservatively, but otherwise these fractures require neurosurgical repair of the dura and plastic surgical reconstruction of the bone. Another unique pediatric injury is a growing skull fracture: the “growth” likely originates from a clinically insignificant dural tear at the time of injury that stretches and allows brain herniation between the fracture edges, resulting in nonunion and expansion. If the growing skull fracture contains the supraorbital ridge, this can lead to changes in the orbit, including pulsatile exophthalmos and vertical dystopia, shifting the position of the globe.

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As in an adult, the goals of forehead reconstruction in the pediatric patient are to isolate the intracranial contents (to prevent cerebrospinal fluid leaks and communication with the nasal sinuses), restore facial contour, and avoid posttraumatic sequelae (such as mucoceles and pyoceles from an inadequately drained frontal sinus). If the patient is old enough to have a pneumatized frontal sinus, then the frontonasal ducts must be adequately draining or the mucosal lining of the sinus must be stripped away. The remaining dead space within the demucosalized frontal sinus must then be obliterated with bone graft or cranialized, that is, the posterior table (wall of the sinus) removed so that the brain can expand into the frontal sinus, with a muscle flap protecting the brain from potential communication with the frontonasal duct.

Orbital Fractures Pediatric orbital fractures differ from their adult counterparts in several ways. The lack of a frontal sinus means that impact in this area can often translate into an isolated orbital roof fracture. Blowout fractures through the orbital floor (which is anatomically the ceiling of the maxillary sinus) are less likely because the maxillary sinuses are well buttressed by being small (without a big hollow into which to collapse) and filled with tooth buds. However, when they do occur, children are much more likely than adults to have a true trapdoor-type fracture, in which the inferior eye muscles have become trapped under the fractured floor segment (Fig. 22-19, A and B). This is a surgical urgency, as the muscle becomes ischemic if not released. There will be restriction of extraocular movement (usually the affected globe is tethered inferiorly by the entrapped muscle and the patient cannot look up; Fig. 22-19, C) and often disproportionate pain and nausea on upward gaze against the tethered muscle. It is thought that true trapdoor orbital floor fractures are more common in children because their periosteum and other supporting structures are more

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elastic and snap the fractured bone back into place, entrapping the muscle. On examination, orbital fractures frequently have periorbital and subconjunctival hematomas. The clinical indications for repairing an orbital floor fracture are vertical dystopia (globe appears to be at a different height) (Fig. 22-19, D), extraocular muscle dysfunction (especially entrapment), increased orbital volume causing enophthalmos (globe looks posteriorly seated with pseudoptosis of the lids), and symptomatic diplopia. Without these abnormal findings, nonsurgical management can usually be offered to pediatric patients, regardless of the size of the fracture, as the elastic supporting structures seem to allow normal orbital support and restoration of volume. However, these findings can be difficult to assess in the immediate postinjury period because of swelling, which can mask any bony defects and cause temporary diplopia. If surgery is needed, multiple approaches (e.g., the transconjunctival, subciliary, or mid-lid approach) can be used. Regardless of exposure, the goal is to place an autologous bone graft or small implant into the floor without injuring orbital muscles, the infraorbital nerve, or the optic nerve, and to reconstruct the orbital volume so that there is almost symmetry in globe position with the contralateral, uninjured eye.

Zygomaticomaxillary Complex Fractures The zygoma, or cheek bone, articulates at five points: with the lateral maxilla along the lateral zygomaticomaxillary buttress, with the superior maxilla along the infraorbital rim, with the temporal bone forming the zygomatic arch, at the lateral orbital rim at the zygomaticofrontal suture, and along the lateral orbital wall at the zygomaticosphenoid suture. Because of underdevelopment of the maxillary sinus and resiliency of the immature bone, isolated zygomatic fractures are relatively uncommon in children, who present more often with orbital fractures.

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Figure 22-19  Orbital floor trapdoor fracture with entrapped muscle. A, Coronal CT view of left inferior rectus muscle entrapped. B, Sagittal CT view of left inferior rectus muscle entrapped. C, Left-sided limited upward gaze. D, Left-sided enophthalmos and vertical ocular dystopia.



Like orbital fractures, the functional deformities are related to changes in orbital volume that could lead to vertical globe dystopia or enophthalmos that could have an appearance deformity or lead to diplopia, which would require operative reduction. Minimally displaced fractures can be treated conservatively. If displaced enough, the cheek is usually rotated in the direction of the injury with malar flattening or blunting (although it may be difficult to clinically discern in the initial period because of swelling) and will need to be reduced and then fixed at two or three articulating points for stability.

Maxillary and Midface Fractures Isolated midface fractures in children are rare given the prominence of their cranium and mandible, which absorb the majority of forces. Therefore, a true pediatric midface fracture is highly likely to be associated with other injuries. Given the underdeveloped maxilla that is relatively solid and not pneumatized, classic pure Le Fort fracture patterns are rare (see Chapter 20, Fig. 20-68). Classic Le Fort fractures are diagnosed by grabbing the maxilla and palate and pulling anteriorly: Le Fort I fractures have a mobile maxilla; Le Fort II fractures have a mobile maxilla that pulls the nasal pyramid with it; and Le Fort III fractures present a complete craniofacial dysjunction, in which the entire midface pulls anteriorly. Transverse maxillary, or Le Fort I, fractures are extremely uncommon in children. The Le Fort II fracture presents as a naso-orbital ethmoid (NOE) fracture combined with a Le Fort I maxillary fracture. Le Fort III fractures are also rare in children, and are more likely to present as combined NOE and zygomaticomaxillary complex (ZMC) fractures. When maxillary fractures are greenstick or minimally displaced, a conservative approach with a liquid or very soft diet should be attempted, as children undergo rapid remodeling. Significant displacement may require maxillomandibular fixation with open reduction internal fixation, but injury to unerupted adult tooth buds must be avoided.

Nasal Fractures Nasal fractures are one of the most common facial fractures in children, and can include the nasal bones, cartilages, and septum. They are diagnosed by history of trauma to the nose and epistaxis that self-resolves. Often the workup will include a fine-cut face CT to rule out other injuries, although it is not absolutely necessary if clinically confident that the nasal fractures are isolated. Examination must include an intranasal examination with a speculum to rule out septal hematoma. In children, there is only a loose attachment of the upper lateral cartilages to the nasal bones, so it is possible to develop hematomas in this area as well. Untreated hematomas cause pressure necrosis to the septal cartilage, leading to a saddlenose deformity. Therefore it is recommended that cartilaginous nasal hematomas be drained urgently. The indication for surgical treatment of the fracture is clinical. Regardless of the actual fracture pattern, it is the appearance of the nose and the septum that determine the need for surgery. Like adults, closed reductions of nasal fractures have a fairly high subsequent revision rate. Most plastic surgeons will perform a closed reduction on a pediatric nasal fracture, and if a revision septorhinoplasty is needed later, will delay until closer to skeletal maturity.

Mandibular Fractures The prominent mandible is the most common site of pediatric facial fractures, and likely represents 20% to 40% of pediatric facial fractures. Before the age of 6, mandibular fractures are

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less common and concomitant injuries should be sought. The incidence of mandibular fractures increases from 6 years to about 15 years of age. The mandible is a symmetric ring with a central symphysis, and paired on either side the parasymphysis, body, angle where the body transitions to ramus, ascending ramus giving off anteriorly the coronoid process where the temporalis muscle inserts, and posteriorly the condyle that articulates with the glenoid fossa forming the temporomandibular joint (TMJ). Condylar fractures are common before age 6, but decrease from then onward. In children older than 15 years, angle and body fractures have the highest proportion. Clinically, these present with pain and malocclusion, as well as pain on opening (trismus), drooling, and decreased maximal incisal opening. Intraoral examination can show a dental step-off at the fracture site. Whereas bilateral condylar fractures often present as an anterior open bite, unilateral condylar fractures present as contralateral posterior open bites. In condylar neck fractures, the condylar head is often displaced medially out of its glenoid fossa by the strong pull of the pterygoid muscles medially. In addition to symptomatic malocclusion, the examiner can assess the TMJ by placing fingers in the external auditory canals while the patient opens and closes his or her mouth. Palpating along the edge of the entire mandible for tenderness can sometimes indicate the location of the fractures. The mandible has some ringlike structure properties, and can often break in two places. Placing the heel of the examiner’s hand against the child’s symphysis and asking the patient to protrude the chin against the hand may yield pain, indicating a mandibular fracture. The key to treatment is to restore normal occlusion. Given the remodeling ability of the pediatric mandible, minor occlusal discrepancies will improve on their own or with orthodontic manipulation later. For significant malocclusion, surgical reduction is attempted, and a stable reduction can be treated by maxillomandibular fixation (MMF) with guiding elastics (rubber-banding rather than wiring the jaws shut). Unstable or irreducible fractures need MMF, possibly with open reduction internal fixation (ORIF), but standard MMF arch bar placement can be difficult because of the shape of pediatric teeth. Primary dentition appears from 6 months to 6 years of age, and then mixed dentition is present from 6 to 12 years of age. Condylar and subcondylar fractures are difficult to approach surgically; there is also the risk of damaging the facial nerve, resulting in ipsilateral weakness or loss of facial animation. These fractures are also at risk for TMJ ankylosis, and early range-of-motion therapy is important. The infrequent indications for an open repair include displacement of the condyle into the middle cranial fossa or auditory canal, or bilateral fractures without the ability to establish occlusion and mandibular height. The side of the fracture usually results in a shorter ramus height with the teeth meeting earlier, causing a contralateral open bite or crossbite. Operative closed reduction by MMF, with contralateral elastics, can correct this defect and allow remodeling with a soft diet. In general, more seriously displaced mandibular fractures will be obvious on physical examination, with malocclusion or even gross instability of the mandible. ORIF should be performed by the most minimal fixation techniques possible to avoid damaging the tooth buds and to prevent impingement on dental growth; this can be accomplished by using only the cortex on the inferior border of the mandible. Intraoral incisions are preferred, and absorbable plates and wires are preferred over metal plates. If metal plates are used, it is preferable to remove them once bony healing is complete to reduce the risk of affecting growth.

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Panfacial Trauma Patients who have experienced trauma severe enough to cause craniofacial fractures of the upper, middle, and lower thirds of the face often have multiorgan injuries complicating their management. Physical examination usually reveals a flattened face appearance, as loss of the multiple skeletal buttresses reduces the anterior projection. There are many approaches to these reconstructions, with the overall goals of re-establishing occlusion, maintaining anterior projection, and maintaining height. Along with pediatric ophthalmology, an otolaryngologist may be consulted for securing the airway with a temporary tracheostomy, neurosurgery may be needed for intracranial access, and an anesthesia team needs to be prepared for patients requiring significant lengths of time to treat. One approach is to use the cranial base as a guide and reduce the NOE to the nasion, the mandible to the glenoid fossas, the maxilla to the occlusal surface of the mandible, the ZMC to the sphenoid and maxilla, and then adjust orbital volumes, followed by soft tissue repairs.

RECONSTRUCTIVE PEDIATRIC PLASTIC SURGERY As reviewed previously, plastic surgeons can improve congenital and acquired defects such as trauma by reshaping the tissue, based on the principles of wound healing and blood supply. These principles also apply to problems regarding soft tissue deformities and coverage of wounds. This places plastic surgeons in close contact with all of the other surgical specialties when they cannot induce a surgical wound to close, such as after debridement of devitalized tissue or tumor extirpation. Every piece of tissue in the human body is alive because the blood supplies oxygen and nutrition and carries away waste products such as carbon dioxide. Not only does the cardiovascular system need to deliver oxygenated blood and immune factors to every cell in the body, but also the capillary bed, where oxygen exchange takes place, averages a modest perfusion pressure of 20 to 30 mm Hg. This surprisingly low pressure plays an important role in pathophysiologic states such as compartment syndromes and pressure ulcers. Therefore, plastic surgeons are limited, because every incision made removes more blood supply. Chronic and complex wounds often are in areas that have decreased blood supply, such as the dependent areas of sitting and standing, which leads to infection, increased oxygen consumption, and relative ischemia, in turn leading to a downward spiral of more infection or oxygen demand and ischemia. The main tools by which a plastic surgeon moves tissue around the body to restore form and function are grafts, flaps, and molding of the tissue. A graft is tissue that is completely removed from one part of the body and placed in a new recipient site in hopes that a new blood supply will grow into it to keep the graft alive. A flap is a vascularized block of tissue that is transferred to another location with its own blood supply. Molding of tissue refers to new and developing technologies to shape tissues: two common techniques involve the use of tissue expanders and negative-pressure wound therapy devices. The main difference between a graft and a flap is that a graft has no blood supply and must gain a new blood supply at its recipient site. It takes about 48 hours before the first stages of revascularization, and therefore the graft must find other mechanisms to survive in the early period. It is thought that it survives by diffusion of nutrients and wastes across an

osmotic gradient, and therefore it must be in close contact with a moist, nonepithelialized, vascular bed such as muscle. For example, in a skin graft, if fluid gets in between the graft and its recipient bed, as with a seroma, hematoma, or pus, or if the graft shears and does not keep close contact with its vascular bed, then those areas of the skin graft will not survive or “take.” This is one of the reasons that skin grafts are often meshed, so that extra fluid can egress and improve take. Another example is autologous fat grafting that can be used to augment soft tissue. Because of their mechanism of revascularization, grafts tend to have a certain percentage take, and the rest may resorb. There are many types of grafts, including skin, fat, cartilage, bone, nerve, and composite grafts containing more than one type of tissue. Skin grafts come in split-thickness and fullthickness versions. Split-thickness grafts are thin enough that the donor site will heal on its own, and their thinness also implies that they survive more easily. However, thin skin grafts have worse cosmetic outcomes and can contract as they heal. Full-thickness skin grafts look much better and are much more pliable, but they have more difficulty surviving and create a donor site defect that needs to be repaired. The key issue to recognize is that skin grafts cannot cover nonvascularized tissue such as bone without periosteum, cartilage without perichondrium, tendon without paratenon, or exposed hardware. To cover such nonvascularized structures, a vascularized flap must be used. Flaps are thicker blocks of tissue that have a blood supply. They usually contain a mix of the following tissue types: skin, subcutaneous fat, fascia, muscle. They can be based on presumed vascular plexuses (known as random pattern flaps) or on known blood vessels by knowledge, visualization, or Doppler (known as pedicled flaps); or completely detached with a known pedicle and brought to a distant location to revascularize via microvascular anastomosis to recipient vessels (known as free flaps). Free flaps may be thought of as autologous tissue transplantation, as they can survive only on the basis of technically performed vascular anastomoses (called microsurgery because of the requirement for an operating microscope) with concomitant risks of thrombosis and flap failure that could necessitate an emergency return to the operating room to explore or re-do the anastomoses. Because a flap leaves a donor site defect when it is moved to cover another tissue, the donor site may sometimes need a skin graft to cover it if it cannot be closed primarily (Fig. 22-20, A-E). Molding describes the direct manipulation of tissue and can refer to numerous techniques that plastic surgeons have innovated to directly shape tissue. Naso-alveolar molding for the cleft lip–nose, implants, and hyaluronidase and collagen fillers are among the many technologies available. Two of the most commonly used techniques in pediatric plastic surgery are tissue expansion and negative-pressure wound therapy. Tissue expansion can potentially solve the problems of tissue mismatch of grafts and the limited availability of local flaps. It involves the placement of inflatable silicone elastomer balloons under skin, fascia, or muscle with a port to inject saline. After months of weekly saline injections into the tissue expanders, the soft tissue has grown to accommodate the expanders, and the expanders can be removed to advance these expanded local flaps. Studies have shown there is actual growth of tissue rather than mere stretching. This solution works well to produce enough specialized neighboring tissue, such as hair-bearing scalp in scalp reconstruction. The main drawbacks are related to the implantable hardware: infection, bleeding, extrusion, skin necrosis, pain, and neurapraxia. Negative-pressure wound therapy (NPWT) involves shrinking an open wound to a smaller size to allow treatment with

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E Figure 22-20  Soft tissue defect of the ankle with exposed bone. A, Ankle defect with flap designed; B, elevated flap; C, rotated flap; D, flap donor site skin grafted; E, wellhealed ankle.

a smaller, safer, simpler reconstruction such as a skin graft, rather than a larger one, such as a free flap. An air-filled substance such as a sponge or gauze is placed in the wound, covered by airtight elastic, and then connected to a vacuum suction device to create negative pressure. The force draws the wound edges toward each other, reduces edema, stimulates cell mitosis, and may also increase healing and granulation by increasing blood flow and the availability of wound-healing factors. Basic steps of wound healing, such as debridement of devitalized tissue, need to be performed to optimize the wound before sealing it shut by NPWT. The NPWT dressing is usually changed about twice per week (depending on the type of wound), and as it is a form of wound dressing, can be changed by nursing staff on an inpatient or outpatient basis.

Pressure Sores Pressure sores demonstrate the tenets of wound healing. Capillary perfusion pressure is a mere 20 to 30 mm Hg, which is easily exceeded when tissue is compressed between two unyielding surfaces: a bony prominence and a chair or bed. Although any bony surface could potentially cause a pressure sore depending on the patient’s positioning, the bony surfaces most commonly involved are the sacrum, calcaneus, ischium,

and greater trochanter. In fact, these areas are naturally subject to pressure greater than 30 mm Hg when we are sitting or lying down, but our autonomic nervous system prompts us to shift our weight frequently to avoid chronic pressure. Therefore, patients who develop pressure sores either are obtunded and hence too unaware to move or have decreased sensation, as in the case of spina bifida or spinal cord injury. As little as 1 to 2 hours of chronic pressure exceeding capillary perfusion pressure leads to compromised oxygenation, ischemia, and eventually tissue necrosis. Therefore, patients with risk factors, and their caregivers, must be taught strict pressure precautions, such as shifting the patient’s weight every 1 to 2 hours while in bed or in a wheelchair. The management goals in treating pressure sores are to identify the intrinsic and extrinsic etiologic factors in order to reduce them, and to perform wound care and debridement to prevent chronic infection from becoming acute infection. Because a postsurgical wound would break down easily if subject to pressure sore–inducing forces, and surgical wounds take at least 6 weeks to heal, patients need to demonstrate nonworsening of their pressure sores for at least 6 to 8 weeks before becoming candidates for surgical coverage of their wounds. Sacral pressure sores are the result of lying down too long in a supine position. Ischial pressure sores result from the sitting position. Greater trochanter pressure sores are caused

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by lying on the side. Extrinsic factors such as moisture and incontinence in these areas, and shearing forces from patient repositioning, add to the difficulty in treating these wounds. Intrinsic factors such as malnutrition are common and further impede wound healing. These factors can be elucidated from a detailed history and physical examination. Pressure sores are typically staged according to the National Pressure Ulcer Advisory Panel consensus development conference scale developed in 1989, which stages pressure sores according to four main layers of tissue: does not pass skin; does not pass fat; does not pass muscle; involves bone. A stage I pressure sore therefore has intact skin, but the skin stays reddened for more than 1 hour even after pressure is removed. In a stage II pressure sore there is a break in the dermis with or without infection, and subcutaneous fat may be exposed. In stage III there is subcutaneous destruction extending into the muscle layer. Stage IV pressure sores involve bone. There are also two designations for suspected deep wounds: a suspected deep tissue injury has intact skin with the purple or discolored hue suggestive of deep tissue injury, and unstageable implies full-thickness loss with eschar that hides how much deep involvement there is. It is important to note that when bone is exposed, the most superficial aspect of bone is desiccated and thus relatively devascularized and superficially colonized by bacteria. This is osteitis, or inflammation of bone, rather than osteomyelitis, or deep bone infection. If the deep bone has good blood supply, a healthy patient can tolerate osteitis for protracted periods as long as there is good wound care and pressure precautions that prevent the wound from worsening. After a pressure sore is cleaned, there are three keys to treatment: reduction of pressure and other extrinsic factors via patient education and mechanical low-pressure devices such as air mattresses and mapped wheelchair cushions (consider

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physiatrist consult), good wound care (consider wound care nurse consult), and adequate nutrition (consider nutrition or feeding consult). Only when these factors are optimized can there be healing of the wound, potentially enough either to avoid surgery or to become a candidate for surgery. Because in pressure sores undergoing surgical treatment there is usually bone exposure, a vascularized flap is used to cover the wound rather than a skin graft.

Soft Tissue Lesions Plastic surgeons deal with many soft tissue lesions, including congenital melanocytic nevi (CMNs), vascular anomalies, neurofibromas, and others. Some of these lesions are described in Chapter 8. Many physicians are comfortable treating small lesions that can be removed with local anesthetic and closed by simple primary closure, but pediatric plastic surgeons are often consulted for larger lesions, as they require general anesthesia and multiple reconstructive techniques. Some large lesions can be covered by local flaps or skin grafts, but one particularly challenging category concerns large CMNs. Large or giant CMNs have an approximately 4% to 8% risk of malignant transformation to melanoma, and thus they need to be monitored closely or excised. Given their size, local flaps often do not suffice, and skin grafts cannot match the tissue type (e.g., hair-bearing scalp would be replaced by a hairless skin graft), and thus tissue expansion is often the best type of reconstruction (Fig. 22-21, A-F). When large CMNs are near complex areas of the body such as the eyelids, a customized combination of skin grafts, flaps, and tissue expansion may be necessary. Vascular anomalies are broadly categorized into hemangiomas and vascular malformations. Hemangiomas are endothelial tumors that usually appear within the first year of life

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Figure 22-21  Giant congenital melanocytic nevus. A, Nevus; B, serial excision; C, scalp tissue expansion; D, scalp tissue expansion with planned nevus excision and flap coverage; E, after nevus excision and expanded flap coverage; F, well-healed flap.

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(infantile hemangiomas) and go through a proliferative phase (with growth in size), followed by an involution phase that usually leaves residual fibrofatty tissue. Some hemangiomas are present at birth (congenital hemangiomas); these may involute rapidly or not involute. Vascular malformations, the result of an error in development, are present at birth and grow proportionately with the child. They can be arterial, venous, capillary, lymphatic, or distinct combinations of these, and each has its own characteristics and natural history. Vascular anomalies can cause increased growth of underlying soft and bony tissues, or directly extend into or exist separately in other tissues, such as leptomeninges, viscera, and muscle. Indications for treating vascular anomalies include current or predictable future symptoms of abnormal appearance, pain, ulceration, bleeding, infection, growth, or psychosocial dysfunction. Rapid intervention must be sought for interference with airway, vision development, conductive hearing, or other organ function, with appropriate consultation with a pediatric otolaryngologist, ophthalmologist, or other subspecialists. Although the pediatric plastic surgeon can perform excisions or laser treatments, a multidisciplinary team approach is usually offered, including the dermatologist, pediatrician, and interventional radiologist, as therapies range from observation to systemic therapies (such as steroids or propranolol) to embolization.

Hand and Upper Extremity Like the face, the hand is a complex organ that is unique to humans. Its function is unsurpassed, allowing humans the gift of creation, and thus reconstructive efforts focus on its functionality. Like most aspects of plastic surgery, the function is very much based on form: the structures of the bones, tendons, and muscles, and the neurovascular conduits connecting them, act together to orchestrate hand function. In addition, the socialization aspect of the hand should not be neglected, as it plays a key role in the patient’s interaction with parents and others. Given the wide variety of potential defects, the timing of surgery must be customized: the patient needs to be old enough to observe how the abnormal hand is being used and what the functional deficits are, but also young enough that postoperative neurologic retraining will be effective. Function is usually more important than aesthetics in these cases, and sometimes surgery is not indicated at all. The overall goals are to optimize function before the patient is 4 years of age, but preferably earlier, at about 1 year of age, when the threedigit pinch is being mastered. Parents should understand that although a normal hand cannot be restored, improving function is still beneficial in the developing child. Upper limb buds emerge at 4 weeks of gestation and, via at least three distinct signaling gradients, develop along all three dimensions: the apical ectodermal ridge signals proximal-to-distal mesenchymal differentiation, the dorsal ectoderm delineates dorsal (extensor) to palmar or volar (flexor) surfaces, and the zone of polarizing activity creates a gradient in an anterior (preaxial, or toward the radius and thumb)-to-posterior (postaxial, or toward the ulna and small finger) direction. By 6 to 7 weeks, digits have fully segregated via apoptosis of the mesenchyme between the digits, and further growth and ossification of cartilage proceed. These three axes of development lead to a wide variety of congenital defects, and they are classified as (1) failure of formation, (2) failure of differentiation, (3) duplication, (4) overgrowth, (5) undergrowth, (6) congenital constriction band syndrome, and (7) generalized skeletal abnormalities. Some of these conditions may be associated with genetic syndromes. These can range from unusual conditions such as cleft hands to the more common syndactylies and polydactylies. Syndactyly

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(fusion of digits), which occurs in about 1 in 2000 births, can be simple (not involving bone) or complex (involving bone). Polydactylies, or extra digits, are most common on the radial aspect as thumb duplication, or on the ulnar aspect as a small finger accessory. Separation of digits requires flaps and grafts, and excision of digits requires attention to excise the redundant nerve to avoid neuromas, and to reconstruct tendons or ligaments. For more complex anomalies, web space reconstruction can increase the size of an object that can be held, pollicization may be needed to move a digit into the position of the absent or nonfunctioning thumb, or toe-to-hand microvascular transfer can use one or more toes to simulate the thumb or other digits.

Trunk and Lower Extremities Given that there is typically excess tissue at the trunk, local flaps can usually provide reconstructive coverage, such as for breast reconstruction, gynecomastia treatment, or abdominal reconstruction. On the other hand, the lower extremity has thin soft tissue relative to the bone, and overall a paucity of soft tissue, so local flaps are often not an option. Negativepressure wound therapy can improve wounds on both the trunk and lower extremity, as it can shrink the wounds and encourage granulation tissue, sometimes converting a large wound into a smaller one that can be covered in a simpler manner, such as with a skin graft. Similar principles therefore apply: if coverage can be delayed, a large wound can often receive NPWT to reduce its dimensions and possibly avoid surgery altogether. If there is no bone exposure, a skin graft may suffice. Otherwise a local flap or free flap is needed. For the lower extremity, the distal third of the calf near the ankle typically has the least amount of local tissue, and therefore a free flap is often needed.

CONCLUSION Plastic surgery solves problems of form and function that are exclusive to humans, such as appearance and speech, to improve quality of life. These deformities can prevent normal functional and psychological development in infants and children, given that unique human features play such an important role in socialization with caregivers and peers. Congenital and acquired deformities can be treated by similar principles of hard and soft tissue reconstruction. Parents should be educated that although pediatric plastic surgeons can often improve outcomes, they are limited by the patient’s innate wound healing and scarring, by the severity of the defect, and by changes that occur as the child grows. Bibliography Ades LC, Mulley JC, Senga LP, et al: Jackson-Weiss syndrome: Clinical and radiographical findings in a large kindred and exclusion of the gene from 7p21 and 5qter, Am J Med Genet 51:121–130, 1994. Aleck K: Craniosynostosis syndromes in the genomic era, Semin Pediatr Neurol 11:256–261, 2004. Basseri B, Kianmahd BD, Roostaeian J, et al: Current national incidence, trends, and health care resource utilization of cleft lip–cleft palate, Plast Reconstr Surg 127(3):1255–1262, 2011. Centers for Disease Control and Prevention: Birth defects 2006. Available at http://www.cdc.gov/ncbddd/birthdefects/data.html. Cohen MM, Kreiborg S: An updated pediatric perspective on the Apert syndrome, Am J Dis Child 147:989–993, 1993. Cohen MM Jr, Rollnick BR, Kaye CI: Oculoauriculovertebral spectrum: An updated critique, Cleft Palate J 26:276–286, 1989. Danziger I, Brodsky L, Perry R, et al: Nager’s acrofacial dysostosis: Case report and review of the literature, Int J Pediatr Otorhinolaryngol 20:225–240, 1990. Gorlin RJ: Fibroblast growth factors, their receptors and receptor disorders, J Cranio-Maxillofac Surg 25:69–79, 1997.

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Keating RF: Craniosynostosis: Diagnosis and management in the new millennium, Pediatr Ann 26:600–620, 1997. Losee JE, Mason AC: Deformational plagiocephaly: Diagnosis, prevention, and treatment, Clin Plastic Surg 32:53–64, 2005. National Pressure Ulcer Advisory Panel: Pressure ulcer prevalence, cost and risk assessment: Consensus development conference statement, Decubitus 2:24–28, 1989. Ocampo RV, Persing JA: Sagittal synostosis, Clin Plastic Surg 21:563–574, 1994. Parker SE, Mai CT, Canfield MA, et al: Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 88(12):1008–1016, 2010. Posnick JC: Unilateral coronal synostosis (anterior plagiocephaly): Current clinical perspectives, Ann Plast Surg 36:430–447, 1996. Posnick JC: Treacher Collins syndrome: Perspectives in evaluation and treatment, J Oral Maxillofac Surg 55:1120–1133, 1997. Prevel CD, Eppley BL, McCarty M: Acrocephalosyndactyly syndromes: A review, J Craniofac Surg 8:279–285, 1997. Singer L, Sidoti EJ: Pediatric management of Robin sequence, Cleft Palate Craniofac J 29:220–223, 1992. Wilkie AO, Wall SA: Craniosynostosis: Novel insights into pathogenesis and treatment, Curr Opin Neurol 9:146–152, 1996.

Facial Fractures Losee JE, Afifi A, Jiang S, et al: Pediatric orbital fractures: Classification, management, and early follow-up, Plast Reconstr Surg 122:886–897, 2008.

Losee JE, Jiang S, Deleyiannis FWB: Craniofacial fractures. In Bentz ML, Bauer BS, Zuker RM, editors: Principles and practice of pediatric plastic surgery, ed 2, vol 2, St. Louis, 2008, Quality Medical Publishing, Chapter 38, pp 1047–1072.

Reconstructive Pediatric Plastic Surgery Arneja JS, Gosain AK: Vascular malformations, Plast Reconstr Surg 121:195e– 206e, 2008. Arneja JS, Gosain AK: Giant congenital melanocytic nevi, Plast Reconstr Surg 124(1 Suppl):1e–13e, 2009. Beck DO, Gosain AK: The presentation and management of hemangiomas, Plast Reconstr Surg 123:181e–191e, 2009. Lin AY, McGrath MH: Pressure sores in the elderly. In Rosenthal RA, Zenilman ME, Katlic MR, editors: Principles and practice of geriatric surgery, ed 2, New York, 2011, Springer, Chapter 93, p 1257. Riddle RD, Tabin C: How limbs develop, Sci Am 280:74–79, 1999. Swanson AB. A classification for congenital limb malformations, J Hand Surg 1:8–22, 1976.

OTOLARYNGOLOGY

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he importance of pediatricians and family physicians having an understanding of and experience with otolaryngologic problems and being skilled in techniques of examination of the head and neck region cannot be overemphasized. One study revealed that more than one third of all visits to pediatricians’ offices were prompted by ear symptoms. When nasal and oral symptoms are included, ear, nose, and throat pathology accounts for more than 50% of all visits. With patience and proper equipment, pediatricians can complete a thorough examination on almost all children. If a disorder fails to respond to therapy or becomes chronic or recurrent, or if an unusual problem is encountered, then consultation with a pediatric otolaryngologist should be sought. Successful examination of the ears, nose, and oropharynx of a young child can present some challenges, especially with older infants and toddlers, who fail to appreciate the need for (and thus often vigorously resist) examination. This can be a particular problem in children who have had previous bad experiences. Patience, warmth, humor, and careful explanation on the part of the examiner help reduce fear and enhance cooperation. Whenever possible, the child should be allowed to sit on the parent’s lap. Pacifiers, puppets and other toys, and tongue blades with faces drawn on them can all serve to reduce anxiety, enlist the child’s trust, and distract attention. Gradual introduction of the equipment can also be helpful, especially if done in a playful way. The child can be asked to blow out the otoscope light while the examiner turns it off, urged to catch the light spot as the examiner moves it around, and even allowed to look in the parent’s or examiner’s ears (Fig. 23-1, A-D). Parents can also help demonstrate maneuvers for opening the mouth, panting to depress the tongue, and holding the head back. Although this may take a little additional time at the outset, it often saves considerable time in the long run and makes future follow-up examinations far easier.

EAR DISORDERS Ear pain (otalgia), discharge from the ear (otorrhea), and suspected hearing loss are three of the more common and specific otic symptoms for which parents seek medical attention for their children. Less specific symptoms such as pulling or tugging at the ears, fussiness, and fever are also frequently encountered, particularly in children younger than 2 years of age. History should center on the nature and duration of symptoms, character of the clinical course, and possible antecedent treatment. Because many infections of the ear are recurrent and/or chronic, the parent should be asked about previous

medical or surgical therapy (e.g., antibiotics, myringotomy, tube insertion). A brief review of the anatomy of the ear is helpful in developing a logical approach to any clinical abnormalities that may be encountered. The ear is conveniently divided into the following three regions (Fig. 23-2): 1. The external ear includes the pinna, or auricle, and the external auditory canal, up to and including the tympanic membrane. 2. The middle ear is made up of the middle ear space, the inner surface of the eardrum, the ossicles, and the mastoid. 3. The inner ear comprises the cochlea (hearing), the labyrinth and semicircular canals (balance), and the main nerve trunks of the seventh and eighth cranial nerves. The examination should include inspection of the auricle, periauricular tissues, and external auditory canal and visualization of the entire tympanic membrane, including assessment of its mobility in response to positive and negative pressure with pneumatic otoscopy. This necessitates clearing the canal of cerumen or discharge by using a curette, cotton wick, lavage, or suction, and presumes that the tympanic membrane is intact (Fig. 23-3, A and B). Use of a surgical otoscope head or an examining microscope assists visualization during the cleaning process. These procedures should be performed carefully and gently and attempted only after the child has been carefully immobilized to avoid trauma (Fig. 23-4). It is extraordinarily easy to injure the canal during the process of cleaning the external ear. Hence great care must be taken; otherwise bleeding from the ensuing trauma obscures the examination and upsets the patient and parent. Steadying of the examiner’s hands on the child’s head while using the otoscope and instruments is an essential skill to avoid ear trauma. Both the patient and parent should be given a clear explanation of the procedure beforehand. Allowing older children to handle and look through the equipment before cleaning the ear reduces anxiety and enhances cooperation (see Fig. 23-3, C). Because the external auditory canal is often angulated in infants and young children, gentle lateral traction on the pinna is frequently necessary to assist visualization of the eardrum itself (Fig. 23-5). In infants the tympanic membrane tends to be oriented at a greater angle (Fig. 23-6, A and B); the landmarks are less prominent; and the skin that lines the canal, being loosely attached, moves readily on insufflation of air, simulating a normally mobile eardrum. To avoid confusion, the canal should be inspected as the speculum is inserted to 913

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Figure 23-1  Techniques to assist examination of a child’s ears, nose, and oropharynx. A, Young infants often can be examined on their mother’s lap, with gentle immobilization provided by the parent and the examiner’s hand. B, Having a toddler or preschooler sit on the mother’s lap and using puppets, other toys, and tongue blades with faces drawn on them while gradually introducing the examining instruments reduces anxiety and enlists cooperation. C and D, Making a game of blowing out the otoscope light and allowing the patient to check the examiner first convey that otoscopy does not have to hurt.

Helix Antihelix

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Figure 23-2  Anatomy of the ear. A, A normal external ear (auricle or pinna) is shown, with its various landmarks labeled. It is helpful to refer to such a diagram in assessing congenital anomalies. B, This coronal section shows the various structures of the hearing and vestibular apparatus. The three main regions are the external ear, middle ear, and inner ear. The eustachian tube connects the middle ear and the nasopharynx and serves to drain and ventilate the middle ear.

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Figure 23-3  A, Equipment for cleaning the external auditory canal. The curette (1) is the implement most commonly used to remove cerumen. Use of a surgical otoscope head (2) makes the process considerably easier. Additional implements include cotton wicks (3) and a suction tip (4) for removal of discharge or moist wax, alligator forceps (5) for removing foreign bodies, and an ear syringe (6) and motorized irrigation apparatus (7) for removing firm objects or impacted cerumen. Lavage is contraindicated when there is a possible perforation of the tympanic membrane. If the motorized apparatus is used for irrigation, it must be kept on the lowest power setting to avoid traumatizing the eardrum. B, Use of suction is often necessary when there is copious exudate. C, Allowing the child to look through the examining microscope may help him or her cooperate with the examination.

ensure that the transition between canal wall and tympanic membrane is visualized. The pneumatic otoscope is the most valuable diagnostic tool when signs or symptoms of otitis media are present. Pediatricians, family practitioners, and otolaryngologists who treat children should be skilled in its use. Practical advice on the use of this instrument is as follows: 1. Use adequate light. A bright halogen lamp is better than an ordinary light bulb. Replace bulbs routinely every 4 to 6 months, and provide for routine battery charging. 2. Choose a speculum of sufficient diameter and length to allow adequate penetration (10 to 15 mm) into the external canal for good eardrum visualization and a good seal for pneumatic otoscopy. 3. Restrain the patient (on the parent’s lap or on the examining table). 4. Brace the hand holding the otoscope on the child’s head to avoid ear canal trauma. When otoscopic findings are unclear or when it is difficult to obtain a good air seal for pneumatic otoscopy, tympanometry can be highly useful in evaluating patients older than 8 months of age (Fig. 23-7). The procedure is not of value in young infants because the abundance of loose connective tissue

Figure 23-4  Method of immobilization for cleaning. An assistant holds the child’s arms and simultaneously immobilizes the child’s head with the thumbs. The parent firmly holds the hips and thighs. This critical immobilization prevents dangerous motion by the child during cleaning of the ear canal and is also useful for otoscopy in young children.

lining the ear canal and the laxity of the cartilage at the entrance increase canal wall compliance and invalidate the results. Because otitis media can be a reflection of both immunologic and anatomic abnormalities, the practitioner should be suspicious of possible underlying immune or temporal bone defects when seeing patients with chronic or frequently recurrent otitis media. The temporal bone is the bony housing for the auditory and vestibular systems. In addition, it provides bony protection for the facial nerve as it crosses from the brainstem to the facial muscles. The growth and development of this bone are affected in syndromes such as Treacher Collins that are characterized by altered midface growth (Fig. 23-8). The soft tissues attached to the temporal bone, such as the muscles controlling eustachian tube function, can be abnormal in children with cleft palates (see Palatal Disorders, later). As a result, children with these disorders tend to have an increased incidence of otitis media. Children with chronic effusions who complain of hearing loss, those whose parents complain that they do not listen, those with speech delays, or those with suspected congenital malformations must have their hearing evaluated by audiometry, evoked otoacoustic emissions, or brainstem evoked potentials. Patients with vertigo and/or problems of balance and those with facial weakness or asymmetry warrant testing of hearing, facial nerve, and vestibular function. These children, and those suffering from malformations, may require computed tomography (CT), magnetic resonance imaging

Figure 23-5  Because the external auditory canal usually is angulated in children, lateral traction on the pinna is often required to straighten the canal and improve visualization of the tympanic membrane.

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Bone

Soft tissue

A

B

Tympanic membrane

10

10

10

8

8

8

6

6

6

4

4

4

2

2

2

0

500

300

100

100

0 300

500

300

100

100

0 300

mm H2O Normal curves. The lower curve is typical of normal ears. The open top curve shows high compliance but is a normal variant in young children. With these curves there is only a 1–2 percent probability of a middle ear effusion.

mm H2O Transitional curves. These curves show compliance that is intermediate between the high peaks seen in normal ears and the flattening seen with most effusions. The lower curve has a steep gradient and a 14 percent probability of associated effusion. The upper, more gradual curve, because of its rounded peak, has an 82 percent probability of effusion.

10

10

8

8

6

6

4

4

2

2

Tympanic membrane compliance

Tympanic membrane compliance

Figure 23-6  Angulation of the tympanic membrane in infancy. A, The relationship between the ear canal and eardrum is different in the infant, with the drum being tilted at an angle of 130 degrees. B, Greater care is required in examining an infant’s eardrum because of this angulation and because the landmarks are less prominent.

0

500

300

100

100

0 300

500

300

500

300

100

100

300

mm H2O Effusion or flattened curves. These curves show decreased tympanic membrane compliance or mobility. When seen, there is an 82 percent chance that an effusion is associated. These curves are seen in patients with acute otitis, chronic otitis, or thickened or scarred tympanic membranes.

100

100

300

mm H2O

mm H2O

High negative curves. These are the curves characteristic of increased negative middle ear pressure. Otoscopy in such patients may show retraction or movement primarily on negative pressure. The lower, more gradual curve has a 67 percent probability of associated effusion, the upper peaked curve a 29 percent probability.

High positive curves. These curves reflect increased positive pressure in the middle ear. The lower curve has a 57 percent probability of effusion or ear disease and is a configuration seen commonly in early acute otitis media. The upper curve has only a 10 percent probability of effusion.

Figure 23-7  Tympanometric patterns of various conditions of the middle ear. (Courtesy Mrs. Ruth Bachman, Pittsburgh, Pa.)

23  |  Otolaryngology



A

D

917

C

B

E

F

Figure 23-8  Syndromes affecting the growth of the temporal bone and midface that predispose patients to recurrent or chronic otitis media and chronic recurrent sinus infections. A and B, Treacher Collins syndrome. Note the maxillary hypoplasia, micrognathia, and auricular deformity. C, Apert syndrome. D and E, Crouzon syndrome. Both Apert and Crouzon syndromes are characterized by severe maxillary and midfacial hypoplasia. F, Hemifacial microsomia with unilateral hypoplasia. (B-F, Courtesy Wolfgang Loskin, MD, University of North Carolina, Chapel Hill, N.C.)

(MRI), or genetic studies in select cases to clarify the nature of the problem.

DISORDERS OF THE EXTERNAL EAR The “Four D’s” Examination of each child’s ear begins with inspection of the auricle and periauricular tissues for four important signs— discharge, displacement, discoloration, and deformity (the “four D’s”). The canal is normally smooth and angulated slightly in an anterior direction. Cerumen is often present; it varies in color from yellowish-white to tan to dark brown. It is secreted from glands interspersed among the hair follicles at the entrance to the ear canal, and it may have some bacteriostatic activity. When cerumen obstructs the view, it must be removed to allow adequate visualization of the canal and tympanic membrane. When soft and moist, cerumen is easily removed with a curette. Removal may be more difficult if the cerumen is dry and flaky and may require removal with otologic forceps or, at times, instillation of drops. In some children, cerumen solidifies or has been packed in with cottontipped applicators, forming a firm plug that impedes sound conduction and requires softening for removal. Irrigation is contraindicated if there is any possibility that the eardrum may not be intact, as infection may be driven into the ear by blind irrigation.

Discharge Discharge is a common complaint with a number of possible causes. When there is thick, white discharge and erythema of the canal wall, the physician should gently pull on the pinna. If this maneuver elicits pain and the canal wall is edematous, primary otitis externa is the likely diagnosis (Fig. 23-9), although prolonged drainage from untreated otitis media with perforation may present a similar picture (see Disorders of the

Figure 23-9  External otitis. Acute bacterial external otitis is characterized by intense pain that is worsened by traction on the pinna, along with purulent exudate and intense canal wall inflammation with normal tympanic membrane mobility on pneumatic otoscopy.

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Middle Ear, later). When the middle ear is the source of otic discharge, the tympanic membrane is abnormal and should show evidence of perforation (see Fig. 23-26). The major predisposing condition to primary otitis externa is prolonged excessive moisture in the ear canal, which promotes bacterial or fungal overgrowth. Thus this is a common problem in swimmers. Another major source is the presence of a foreign body in the ear canal (see Fig. 23-19), which stimulates an intense inflammatory response and production of a foulsmelling purulent discharge. Thus when otic drainage is encountered, the discharge must be gently removed under appropriate magnification to assess the condition of the tympanic membrane and to rule out the presence of perforation and foreign objects. This can be accomplished either by gentle siphoning and wiping with cotton wicks or by careful suctioning (see Fig. 23-3). If the history indicates that the drainage is persistent or recurrent despite therapy, a culture should be obtained to determine both the causative organism and its sensitivity to antimicrobial agents. Treatment consists primarily of topical otic antimicrobial/steroid preparations. Systemic antibiotics should be given when pain is severe; when there is evidence of otitis media; or when, despite attempts at cleaning, there is still uncertainty about an infection of the middle ear. Parenteral antibiotics may be required when the process has extended, producing cellulitis of the periauricular soft tissues or frank mastoiditis. Displacement Displacement of the pinna away from the skull is a worrisome sign. The most severe condition causing displacement is mastoiditis, resulting from extension of a middle ear infection through the mastoid air cells and out to the periosteum of the skull. In addition to displacement, important clinical signs of mastoiditis include erythema and edema and possibly fluctuance of the skin overlying the mastoid, exquisite tenderness on palpation of the mastoid process, a sagging ear canal, purulent otorrhea, fever, and usually toxicity (Fig. 23-10). This condition is now considered unusual and is seen mainly in patients with long-standing, untreated, or inadequately treated otitis media. Recognition, prompt institution of parenteral antibiotic therapy, and myringotomy with culture and sensitivity testing are crucial because there is significant risk of central nervous system (CNS) extension. The use of a CT scan will delineate the extent of involvement and assist the surgical approach (Fig. 23-11). Mastoidectomy is indicated in cases complicated by bone erosion, or CNS extension, and in those in whom intravenous (IV) antibiotics and myringotomy fail to produce complete resolution. Other conditions characterized by displacement of the pinna away from the head include parotitis, primary cellulitis

A

B

Opacified mastoid

Epidural abscess

Figure 23-11  Mastoiditis. The CT image shows acute left-sided mastoiditis with the complication of an associated epidural abscess delineated in the diagram.

of the periauricular tissues, and edema secondary to insect bites or contact dermatitis. Parotitis is differentiated by finding prominent induration and enlargement of the parotid gland anterior and inferior to the external ear, together with blunting of the angle of the mandible on palpation (see Chapter 12). Primary cellulitis is characterized by erythema and tenderness but can often be distinguished clinically from mastoiditis by the presence of associated skin lesions that antecede the inflammation (Fig. 23-12). In cases secondary to untreated external otitis or otitis media with perforation, the picture may be clinically similar. Localized contact dermatitis and angioedema may be erythematous, but they are also pruritic and nontender. The former condition is characterized by microvesicular skin changes (Fig. 23-13), whereas in the latter condition, a precipitating insect bite can often be identified on inspection (Fig. 23-14).

C

Figure 23-10  Mastoiditis. A, This frontal photograph clearly shows the left auricle displaced anteriorly and inferiorly. B, In another patient, viewed from the side, erythema can be appreciated over the mastoid process. C, On otoscopy, erythema and edema of the canal wall are evident and the posterosuperior portion of the canal wall sags inferiorly. (C, Courtesy Michael Hawke, MD.)

23  |  Otolaryngology



Figure 23-12  Periauricular and auricular cellulitis. This infant had mild postauricular seborrhea and developed varicella. The vesicular varicella lesions that clustered at sites of prior skin irritation became secondarily infected with group A β-streptococci, resulting in cellulitis with intense erythema, edema, and tenderness of the auricle and periauricular tissues. In this case the external canal was normal. (Courtesy Ronald Chludzinski, MD.)

919

Figure 23-14  Angioedema. This youngster had pruritic, nonpainful, nontender erythema and swelling of his ear and infraorbital region. Close examination of  the latter revealed the punctum of an insect bite. Another punctum on his ear  was obscured by crusting following scratching. (Courtesy Michael Sherlock, MD, Lutherville, Md.)

Discoloration Discoloration is another important sign and is commonly a feature of conditions producing displacement. Erythema of the pinna is common when there is inflammation, with or without infection (see Fig. 23-10, B and Figs. 23-12 to 23-14). Ecchymotic discoloration may be encountered with trauma. When this overlies the mastoid tip, the area immediately posterior to the pinna, it is termed a Battle sign (Fig. 23-15, A) and usually reflects a basilar skull fracture. In such cases the canal wall should be checked for tears and the tympanic membrane for perforation or a hemotympanum (blood behind the tympanic membrane; Fig. 23-15, B). These findings are generally more helpful in making the diagnosis than routine skull x-rays, which are often inconclusive. CT can usually confirm the diagnosis of a basilar skull fracture. Recognition that bruising

A

B Figure 23-15  Basilar skull fracture. A, The presence of a basilar skull fracture involving the temporal bone is often signaled by postauricular ecchymotic discoloration, termed the Battle sign. B, The force of the blow may also cause tearing of the ear canal or, as shown here, middle ear hemorrhage with hemotympanum. Depending on the timing of examination, this may appear red or blue. (B, Courtesy Michael Hawke, MD.) Figure 23-13  This young girl became sensitive to the nickel posts of her earrings and developed periauricular contact dermatitis. The auricle and periauricular skin are erythematous and covered by a weeping, pruritic microvesicular eruption. (Courtesy Michael Sherlock, MD, Lutherville, Md.)

920

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 23-16  A, Grade 3 microtia and congenital aural atresia of the right external ear. In this otherwise normal child, the pinna failed to develop properly and the external canal was atretic. Audiometric testing revealed a 60-dB hearing loss. B, Grade 2 microtia. Note deficiency of superior portion of auricle. Such isolated deformities stem from abnormal development of the first and second branchial arches.

A

B

of the pinna and/or postauricular area can be a manifestation of child abuse is most important (see Chapter 6). Deformity When the external ear is grossly misshapen or microtic, associated anomalies of middle ear structures are common and hearing loss may be significant (Fig. 23-16, A and B). Severe deformities stem from developmental anomalies of the branchial arches, which contribute to both external ear and middle

ear structures. Such abnormalities warrant a thorough evaluation in infancy to ensure early recognition and treatment of hearing loss. Deformity of the pinna can be the result of hereditary factors or exposure to teratogens, but at times it is simply produced by unusual intrauterine positioning. Most deformities are minor and represent isolated malformations of mostly cosmetic significance (Fig. 23-17, D). In some instances they may be part of a picture of multiple congenital anomalies (Fig. 23-17, A-C; see also Fig. 23-8 and Chapter 1). Figure 23-17  Minor congenital auricular deformities. A, In this infant the superior portion of the helix is folded over, obscuring the triangular fossa; the antihelix is sharply angulated; and there are three preauricular skin tags. B, This neonate with orofaciodigital and Turner syndromes has a simple helix and a redundant folded lobule. The ear is low set and posteriorly rotated, and the antitragus is anteriorly displaced. C, This infant with Rubinstein-Taybi syndrome has an exaggerated elongated intertragal notch. D, Prominent ear in an otherwise normal child. The auricular cartilage is abnormally contoured, making the ear protrude forward. (C, Courtesy Michael Sherlock, MD, Lutherville, Md.)

A

B

C

D

23  |  Otolaryngology



921

Figure 23-18  Preauricular sinuses. A, These congenital remnants are located anterior to the pinna and have an overlying surface dimple. B, In this child the sinus has become infected, forming an abscess. (A, Courtesy Michael Hawke, MD.)

A

B

Trauma to the pinna may result in a hematoma between the skin and cartilage, the recognition of which requires otolaryngologic consultation. An unrecognized hematoma may result in a permanent deformity if left undrained, or if superinfection of the hematoma results. Either complication can result in permanent cosmetic damage to the pinna. Preauricular sinuses and cysts constitute two of the more common congenital abnormalities. These are congenital remnants located anterior to the pinna with an overlying surface dimple (Fig. 23-18, A). These cysts are vulnerable to infection and abscess formation (Fig. 23-18, B), which necessitate needle aspiration or incision and drainage in conjunction with antistaphylococcal antibiotics. Once infection has occurred, recurrence is common unless the entire sinus is completely excised. This procedure should be undertaken once inflammation has subsided. A preauricular sinus may also result from branchio-oto-renal syndrome (also known as Melnick-Fraser syndrome), an autosomal dominant disorder characterized by bilateral preauricular sinuses, ear anomalies, branchial cleft anomalies in the neck, and renal problems.

irrigation of the ear canal; others—particularly spherical objects—require use of a Day (right angle) hook or suction (Fig. 23-19, C; see also Fig. 23-3). Foreign objects may also be the cause of painful abrasions or lacerations of the external auditory canal or even perforation of the tympanic membrane. Insertion of pencils or sticks into the ear canal by the child and parental attempts to clean the canal with a cotton swab are the most common modes of such injury. Exposure to concussive forces such as a direct blow (which may be accidental or inflicted) or an explosion can also result in perforation (Fig. 23-20, A and B). Patients with traumatic perforations must be carefully assessed for signs of injury to deeper structures. If tympanic membrane perforation occurs as a result of penetration by a foreign object or of concussive forces, the physician must be particularly aware of the possibility of middle ear or inner ear damage. Evidence of hearing loss, vertigo, nystagmus, facial nerve injury, or cerebrospinal fluid leak should prompt urgent otolaryngologic consultation because an emergency surgical exploration may be indicated.

Foreign Objects and Secondary Trauma

DISORDERS OF THE MIDDLE EAR

It is not unusual for children to put paper, beads, and other foreign objects into their ear canals (Fig. 23-19, A). Small insects also on occasion may become trapped in the external ear (Fig. 23-19, B). In some cases small objects may be embedded in cerumen and missed on inspection. As noted earlier, if present for more than a few days, the foreign material stimulates an inflammatory response and production of a purulent discharge that is often foul-smelling and may obscure the presence of the inciting foreign body. Removal of some objects can be accomplished by use of otologic alligator forceps or by

The normal tympanic membrane is thin, translucent, neutrally positioned, and mobile. The ossicles, particularly the malleus, are generally visible through the membrane (Fig. 23-21). Adequate assessment of the tympanic membrane requires that the examiner note four major characteristics: (1) thickness, (2) degree of translucence, (3) position relative to neutral, and (4) mobility. Application of gentle positive and negative pressure, using a properly sealed pneumatic otoscope (Fig. 23-22), produces brisk movement of the eardrum when the ear is free of disease and abnormal movement when fluid is present, when

A

B

C

Figure 23-19  Otic foreign bodies. A, This child inserted a bead into her ear. The object must be removed carefully to prevent further trauma. B, This patient experienced a period of intense buzzing, pain, and itching in the ear that abated after a few hours. If the tympanic membrane is intact, olive or mineral oil may be used to drown the insect. C, A blunt-tipped, right-angled Day hook, small wire loop curette, Hartmann forceps, and an alligator forceps (and see Fig. 23-3, A) are useful instruments for removing foreign bodies from the external auditory canal.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 23-20  Traumatic perforations of the tympanic membrane. A, This 8-year-old boy’s tympanic membrane was perforated by a forceful slap on the ear. B, Even more severe damage with thickening and hemorrhage is seen in this victim of a blast injury caused by an explosion.   (A, Courtesy Michael Hawke, MD.)

A

B

the drum is thickened or scarred, or when there is an increase in either positive or negative pressure (Fig. 23-23). An abnormality in any one of the four major characteristics suggests middle ear pathology.

Acute Otitis Media Acute otitis media is the term used to describe acute infection and inflammation of the middle ear. Associated inflammation and edema of the eustachian tube mucosa appear to play key roles in the pathogenesis by impeding drainage of the middle ear fluid. In some children, anatomic or chronic physiologic abnormalities of the eustachian tube predispose to infection. The problem is commonly seen in conjunction with an acute upper respiratory tract infection, and its onset is often heralded by a secondary temperature spike one to several days after the onset of respiratory symptoms. The major offending organisms are bacterial respiratory pathogens. The most commonly isolated organisms and their relative frequency, shown in Table 23-1, demonstrate the rise of penicillin-resistant Streptococcus pneumoniae. A small proportion of cases constitute an exception to these percentages, that is, those in which otitis is accompanied by conjunctivitis. Nontypable Haemophilus influenzae is found to be causative in 70% to 75% of these cases. Increasing rates of β-lactamase positivity in these organisms, as well as the rising incidence of penicillin-resistant S. pneumoniae, has necessitated the use of high-dose amoxicillin and/or greater use of β-lactamase–resistant antibiotic regimens whenever this scenario is seen. Sulfa drugs may also be useful for therapy of community-acquired methicillin-resistant

Figure 23-21  A normal tympanic membrane. The drum is thin and translucent, and the ossicles are readily visualized. It is neutrally positioned with no evidence of bulging or retraction. (Courtesy Sylvan Stool, MD.)

Staphylococcus aureus, which is becoming increasingly common. In acute otitis media the classic findings on inspection of the tympanic membrane are erythema and injection; bulging that obscures the malleus; thickening, often with a grayishwhite or yellow hue, reflecting a purulent effusion; and reduced mobility (Fig. 23-24, A). However, crying produces erythema of the eardrum, and thus tympanic erythema in a crying child is of little diagnostic value. The patient is usually febrile and, if old enough, typically complains of otalgia. However, in many cases this “textbook picture” is not seen. This is probably due in part to time of presentation, the virulence of the particular pathogen, and host factors. Accuracy in diagnosis necessitates meticulous inspection during otoscopy and knowledge of the various modes of presentation. Children may have fever of a few hours’ duration and otalgia (or if very young, fever and irritability) yet have no abnormality on otoscopy. If re-examined the next day,

Table 23-1

Acute Otitis Media: Most Commonly Isolated Bacterial Pathogens and Their Relative Frequency

Bacterial Pathogen Streptococcus pneumoniae Haemophilus influenzae Moraxella catarrhalis Staphylococcus aureus Total

Number of Isolates (% of Total)

Number Resistant (%)

49 (44)

18 (37)

46 (41) 16 (14) 0 (0) 111 (100)

21 (46) 16 (100) 0 (0) 55 (50)

Figure 23-22  Pneumatic otoscopy. This procedure requires proper equipment including a pneumatic otoscope head and an appropriately sized speculum to achieve a good air seal. When a seal is difficult to obtain despite proper speculum size, the head and tubing should be checked for air leaks. If none is found, application of a piece of rubber tubing to the end of the speculum (shown attached to the otoscope) or use of a soft speculum (1) may solve the problem.

23  |  Otolaryngology



Figure 23-23  Technique and findings in pneumatic otoscopy. A, The speculum is inserted into the ear canal to form a tight seal. The bulb is then gently and slowly pressed and released while the mobility of the drum is assessed. Pressing on the bulb applies positive pressure; letting up applies negative pressure. B, A normal drum moves inward and then back. C, In cases of acute otitis media, in which the middle ear is filled with purulent material, the drum bulges toward the examiner and moves minimally. D, In cases of acute otitis media with an air–fluid level, mobility may be nearly normal. In some patients, however, the drum may be retracted, indicating increased negative pressure. If this is the case, mobility on positive pressure may be reduced whereas movement on negative pressure is nearly normal or only mildly decreased. E, This is the same pattern as that seen commonly in children with chronic serous otitis. F, In cases of high negative pressure and no effusion, application of positive pressure produces little or no movement, but on negative pressure the drum billows back toward the examiner.

923

Normal mobility

Pneumatic Otoscopy  Positive pressure

Ossicles 

B





Ear canal

Pressing bulb applies positive pressure

Pink mucosa Tympanic membrane

Acute purulent otitis media 

 Cloudy purulent effusion

C

 Negative pressure –

Otitis media with air-fluid level

Releasing bulb applies negative pressure





D

Cloudy fluid

A Chronic serous otitis 



E





Clear serous effusion

High negative pressure without effusion

F many of these patients have clear evidence of acute otitis media. Some have erythema and bubbles or air–fluid or air– pus levels (a result of venting by the eustachian tube) without bulging and with nearly normal mobility of the eardrum (Fig. 23-24, B). In still other cases the drum may be full and poorly mobile with cloudy fluid behind it but with minimal erythema (Fig. 23-24, C). In some patients the drum is retracted, moves primarily or only in response to negative pressure, and shows signs of inflammation and/or a cloudy effusion. On occasion the signs and symptoms of otitis media may be accompanied by formation of a bullous lesion on the

A

B

surface of the tympanic membrane, a condition termed bullous myringitis (Fig. 23-25). These children usually complain of intense pain. Whereas this phenomenon is most commonly associated with Mycoplasma infection in adults, any of the usual pediatric pathogens (see Table 23-1) can be causative in children. Finally, acute otitis media may, by virtue of increasing middle ear pressure, result in acute perforation of the tympanic membrane. On presentation the canal may be filled with purulent material; however, tugging on the pinna usually does not elicit pain, and erythema and edema of the canal wall are minimal or absent. Cleansing with a cotton wick or

C

Figure 23-24  Acute otitis media. A, This is the textbook picture: an erythematous, opaque, bulging tympanic membrane. The light reflex is reduced, and the landmarks are partially obscured. Mobility is markedly reduced. B, In this acutely febrile child who complained of otalgia, the presence of both air and fluid formed bubbles separated by grayish-yellow menisci. Even though the drum was not injected, this finding, combined with fever and otalgia, is consistent with acute infection. C, In this child the tympanic membrane was injected at the periphery, and a yellow purulent effusion caused the inferior portion to bulge outward. Mobility was markedly reduced. (A, Courtesy Michael Hawke, MD.)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 23-25  Acute otitis media with bullous myringitis. This patient was febrile and extremely uncomfortable. On otoscopy an erythematous bullous lesion is seen obscuring much of the tympanic membrane. This phenomenon, called bullous myringitis, is caused by the usual pathogens of otitis media in childhood. The bullous lesion often ruptures and drains spontaneously, providing immediate relief of pain.

Figure 23-27  Serous otitis media. This patient has a chronic serous middle ear effusion. The tympanic membrane is retracted, thickened, and shiny. Behind it is a clear yellow effusion. Mobility was decreased and primarily evident on negative pressure. The child was not acutely ill but did have decreased hearing. (Courtesy Sylvan Stool, MD.)

suction usually reveals an inflamed drum with a barely visible perforation (Fig. 23-26). Just as clinical findings of acute otitis media vary, so do symptoms. Although some patients have severe otalgia, others may complain of sore throat, mild ear discomfort, ear popping, or decreased hearing yet have floridly inflamed eardrums. Fever may be absent. As a guideline, the American Academy of Pediatrics and the American Academy of Family Physicians recommend that the diagnosis of acute otitis media be made with (1) a history of acute onset of signs and symptoms, (2) the presence of middle ear effusion, and (3) signs and symptoms of middle-ear inflammation. Radiographic studies are generally of little value in the diagnosis of acute otitis media. When a temporal bone CT scan is obtained in a patient with acute otitis media and fluid in the middle ear, fluid is often present in the mastoid cavity. This will be interpreted by a radiologist as opacification of the mastoid because it may be difficult to distinguish between the CT findings of acute otitis media and those of acute mastoiditis. In such instances it is important that the physician look at the patient’s clinical signs rather than rely on radiographic findings to make the diagnosis. Treatment for acute otitis media may include the option of observation without use of antibiotics based on diagnostic certainty, age, illness severity, and assurance of follow-up. In addition to treating patients with an appropriate antimicrobial agent and analgesics when necessary, follow-up examination is important. This is best done 2 to 3 weeks after diagnosis,

when complete resolution can be expected in more than 50% of children. The purpose of reevaluation is to identify those patients who have persistent serous effusions and require ongoing surveillance. Selected older patients with mild, uncomplicated acute otitis media may be observed without antimicrobial therapy, but follow-up examination is still necessary.

Otitis Media with Effusion (Serous Otitis Media) Serous effusion in the middle ear may result from an upper respiratory tract infection, or it may be the residual of treated acute otitis. In many instances this effusion is not spontaneously cleared but instead remains in the middle ear for weeks or months, resulting in a persistent clear gray or yellow effusion behind the eardrum (Fig. 23-27). Persistence appears to result in part from eustachian tube dysfunction with poor drainage and ventilation. Pneumatic otoscopy often reveals poor mobility of the tympanic membrane, and mobility is noted primarily on negative pressure. The latter is thought to develop as a result of absorption of middle ear gases by mucosal cells, creating a vacuum that persists with the fluid because of failure of ventilation by the eustachian tube. Such long-standing effusions impair hearing. Persistence of bilateral serous effusions for more than 3 to 4 months with hearing loss is an indication for myringotomy and insertion of tubes (see Fig. 23-29, A and B) to improve hearing.

Chronic–Recurrent Otitis Media

Figure 23-26  Acute otitis media with perforation. In this child, increased middle ear pressure with acute otitis resulted in perforation of the tympanic membrane. The drum is thickened, and the perforation is seen at the 9 o’clock position.

Chronic or chronic–recurrent otitis media with effusion (COME) is common in young children. Patients subject to this condition appear to have significant and prolonged eustachian tube dysfunction. This “otitis-prone” state may be a seemingly isolated phenomenon, or it can be a feature of a number of syndromes characterized by palatal dysfunction or malformation or by facial hypoplasia or deformity. These conditions include cleft palate, Crouzon syndrome, Down syndrome, and the mucopolysaccharidoses and mucolipidoses (see Fig. 23-8; and see Palatal Disorders, later). Chronic obstructive adenoidal hypertrophy may also be a predisposing condition. Less commonly, immunodeficiency and immotile cilia syndrome are identified as underlying etiologic conditions. Chronic otitis media is associated with significant morbidity in terms of intermittent or chronic hearing impairment, intermittent discomfort, and the sequelae of recurrent infection.

23  |  Otolaryngology



B

A

925

C

Figure 23-28  Sequelae of chronic otitis media. A, Much of this child’s tympanic membrane is scarred and thickened, and a thinned dimeric area balloons out of the inferior central portion. B, The eardrum is markedly thickened, scarred in an arc from 12 to 5 o’clock, and has a large chronic perforation. C, Severe retraction of the tympanic membrane is seen in this patient. The membrane adheres to the malleus. (A and B, Courtesy Sylvan Stool, MD; C, courtesy Alejandro Hoberman, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Over months or years, the process produces permanent myringosclerotic changes in which the tympanic membrane becomes whitened, thickened, and scarred (Fig. 23-28, A). Chronic perforations are common (Fig. 23-28, B). Patients with persistent middle ear infections despite medical therapy, those with frequent recurrences, and children with chronic severe tympanic membrane retraction (Fig. 23-28, C) appear to benefit from surgical drainage and insertion of tympanostomy tubes that vent the middle ear (Fig. 23-29). Persistence of a serous effusion for longer than 3 to 4 months with significant hearing loss is also an indication for myringotomy and insertion of tubes. Once placed, tubes should be checked at intervals for presence and patency. Spontaneous extrusion generally occurs

6 to 24 months after insertion. When tubes have been inserted, it is wise to prevent contamination of the middle ear with water. The need for earplugs in children with tubes or a perforation is the subject of some controversy, but in general their use is still recommended.

Protection of the Exposed Middle Ear with Earplugs Earplugs come in all shapes and sizes. They vary in cost from inexpensive, premolded earplugs to expensive, custom-molded devices. The general purpose of an earplug is to prevent water from entering the external ear canal and contaminating the middle ear space. “Wax” earplugs act like a putty that can be molded into the particular shape that comfortably blocks the individual’s ear canals. A preformed earplug is held in place by the conchal bowl and provides reasonable protection for children. Although custom-made earplugs are not of critical importance, they do provide a better fit and are more comfortable, and compliance with their use tends to be greater. Children have a propensity to lose or misplace these devices, and it is best to focus on obtaining functional earplugs that are easily replaceable at minimal cost.

Other Middle Ear Disorders A

B Figure 23-29  A, Tympanic membrane of patient with a history of chronic otitis media, with tympanostomy tube in place. The tube serves to vent the middle ear, improve hearing, and reduce the frequency of infection. B, The tympanic membrane is slightly smaller than the size of a dime. A typical tube takes up approximately 15% of the tympanic membrane’s surface area. There are many different types in a variety of shapes, materials, sizes, and colors. Selection is based on specific pathology and surgeon preference. (A, Courtesy Sylvan Stool, MD.)

Although considerably less common than otitis media and serous otitis media, a number of other disorders involving the tympanic membrane are important because of potential severity. Mass Lesions Involving the Tympanic Membrane The most common and one of the most serious mass lesions of the eardrum is a cholesteatoma. It can present as a defect in the tympanic membrane through which persistent drainage occurs, or it can appear as a white cystic mass behind or involving the eardrum. It consists of trapped epithelial tissue that grows beneath the surface of the membrane (Fig. 23-30). Although a few are congenital with an intact tympanic membrane, the majority are sequelae of untreated or chronic– recurrent otitis media with a tympanic membrane defect. If a cholesteatoma is not removed surgically, it continues to enlarge; becomes locally destructive; and can erode the mastoid bone, destroy the ossicles, and even invade the inner ear structures or cranium. Progressive hearing impairment is usually a feature of this condition. Congenital cholesteatoma

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A

B

C

Figure 23-30  Cholesteatomas. A, Congenital cholesteatoma noted in a young child with spontaneous ear drainage. No previous history of ear infections existed. B and C, Acquired cholesteatomas, which generally present after a long history of chronic middle ear disease.

is rare. It is seen under an intact tympanic membrane in the anterior superior quadrant of the middle ear. Granulomas or polyps of the tympanic membrane (Fig. 23-31) can also develop in children with chronic middle ear infections. The most common cause of aural polyps in children is an old, retained tympanostomy tube. Cholesteatoma is another predisposing condition. These tissues often bleed easily, which can frighten the patient, the parent, and the physician. Left untreated, polyps can enlarge to fill the canal and by expansion can progressively damage the drum and the ossicles. Therefore prompt surgical removal is indicated if therapy with topical and oral antimicrobials is unsuccessful. Distortions of the Tympanic Membrane Thin, dimeric portions of the eardrum may be observed in patients with chronic middle ear disease, or they may develop after extrusion of a tympanostomy tube (Fig. 23-32; see also Fig. 23-28, A). These thinned areas are the result of abnormal healing of perforations and are hypermobile on pneumatic otoscopy. The important points to note on examination are whether the full depth of the pocket is visible or partly hidden, its location with respect to the ossicles, and whether or not it is dry. If the ear canal and drum are not dry, an active infection and/or cholesteatoma is present. In cases of severe deformity, aggressive therapy including ventilation of the middle ear and surgical excision of the pocket may be necessary.

NASAL DISORDERS A child’s nose is examined most commonly for disturbances in external appearance, excessive drainage, or blockage of airflow and interference with breathing. Epistaxis is also frequently encountered.

Figure 23-32  Dimerism of the tympanic membrane. Otoscopy demonstrates a severely retracted atrophic segment of the eardrum that also has multiple white scars (tympanosclerosis). The thinned portions are the result of abnormal healing of perforations and tend to be hypermobile on otoscopy. (Courtesy Sylvan Stool, MD.)

Nasal Examination The nasal examination can be difficult in younger children. It is best done with the child sitting on a parent’s lap or in a chair. The child’s head is held in a neutral position, not tilted up. An otoscope with a wide speculum (≥4 mm) is the most practical instrument. The examiner should gently brace his or her free hand on the child’s upper lip to prevent sudden head movement from pushing the speculum tip into the nose, which could lead to nasal trauma, and should try to look toward the back of the nose rather than up into the nose. If the child is old enough to comply, he or she is asked to Figure 23-31  Granulomas and polyps of the tympanic membrane. A, Growth of this polypoid granuloma was stimulated by the inflammatory process of chronic middle ear infection. B, These polyps, which protrude through a tympanic membrane perforation, have enlarged to entirely fill the external ear canal. Because of the possible attachment of the polyp to the facial nerve or the ossicles of the middle ear, removal of polyps requires extreme caution. (A, Courtesy Sylvan Stool, MD.)

A

B

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A

B

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Figure 23-33  Nasal endoscopic examination. A, A child holding and feeling the endoscope. B, When he shines the light on himself, the endoscope shows his face on the monitor. C, By holding it at the entrance to his nose, he sees that the instrument is neither hot nor painful.

breathe through his or her mouth so as not to fog up the lens on the otoscope. If a nasal spreader-type speculum is used, a headlight is desirable. The septum, the anterior edges of the middle and inferior turbinates, and the nasal floor are inspected, and the quality of nasal secretions is noted. With practice and when there is minimal congestion, adenoidal size can be assessed. A more thorough examination is possible with a nasal endoscope; this enables full visualization of internal nasal structures. Before starting, the nose is sprayed with a decongestant to shrink the nasal mucosa and with a topical anesthetic. With patience, older children can be coaxed through the insertion and examination. Allowing them to hold and inspect the device, test the light, look at themselves on the monitor, and even insert the tip into their nose assists cooperation (Fig. 23-33, A-C). Most children younger than 5 years of age require immobilization, either on a papoose board or with parental and nursing assistance. The nasal endoscope is a useful tool, and this type of examination can be done readily in the otolaryngologist’s office.

Nasal Congestion and Obstruction Upper Respiratory Infections in Early Infancy In infancy and early childhood the nasal passages are small and easily obstructed by processes that produce mucosal edema and coryza, whether infectious, “allergic,” or traumatic. In the first 1 to 3 months, infants are obligate nose breathers and therefore can have significant respiratory distress from nasal congestion alone. Young infants with upper respiratory tract infections may, in addition to nasal discharge, have tachypnea and mild retractions and often have to interrupt feeding to breathe, which can result in the swallowing of significant amounts of air, leading to a secondary increase in spitting up after feeding and to intestinal gas pain. These secondary problems can be minimized by instructing parents to hold these infants up on their shoulders and burp them for 10 to 15 minutes after feedings. Instillation of saline nose drops to loosen secretions, followed by nasal suctioning before meals and naps, also provides a measure of relief. Oral decongestants are ineffective and often produce marked irritability when given to infants in the first year of life; they are no longer approved for pediatric use because of serious adverse events including deaths in children under 2 years of age. Fortunately, upper respiratory tract infections are generally brief and clear within a few days. On occasion, infants with upper respiratory tract infection go on to have persistent, purulent, or serosanguineous nasal

discharge. Culture of discharges persisting longer than 10 to 14 days may disclose heavy growth of a single pathogen. Preliminary studies of empirical antimicrobial therapy in such infants suggest that this produces rapid and effective resolution of symptoms when compared with a placebo. Thus this picture of prolonged nasal discharge probably represents a bacterial ethmoiditis, the infant equivalent of sinusitis. Nasopharyngitis Secondary to Gastroesophageal Reflux (Reflux Rhinitis) Infants with gastroesophageal reflux disease (GERD) may develop persistent nasal congestion and rhinorrhea with varying degrees of mucosal inflammation and edema in response to exposure to gastric contents. Snoring and/or coughing during sleep are common associated symptoms. Although vomiting or frequent spitting, sometimes with passage of regurgitated material through the nose, may be reported, often such symptoms are absent. The section Otolaryngologic Manifestations of Gastroesophageal Reflux Disease near the end of this chapter details the spectrum of signs and symptoms that may assist in diagnosis of GERDrelated nasal disorders. Congenital Causes of Nasal Obstruction Congenital causes of nasal obstruction include choanal atresia, choanal stenosis, and mass lesions such as tumors, cysts, and polyps. Choanal Atresia and Stenosis Choanal atresia may be bony (90%) or membranous (10%), bilateral or unilateral. Newborns with bilateral choanal atresia manifest severe respiratory distress at delivery, with cyanosis that is relieved by crying and returns with rest (paradoxic cyanosis). The true nature of the problem can elude detection if the physician relies solely on passing soft feeding catheters through the nose to determine patency, because these can buckle or curl within the nose. The correct diagnosis is best made with a van Buren urethral sound or a firm plastic suction catheter (both no. 8 French). This is passed gently along the floor of the nose, close to the septum. If bony resistance is encountered, the diagnosis of choanal atresia is suspected (Fig. 23-34, A) and can be confirmed by endoscopy or by obtaining a CT scan of the nose and nasopharynx with fine overlapping cuts (Fig. 23-34, B). Immediate relief of neonatal respiratory distress from bilateral choanal atresia may be accomplished by insertion of an oral airway (or a firm nipple from which the tip has been cut away) into the mouth. Definitive studies can then be performed to aid in planning surgical correction. Infants

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but acquisition of an upper respiratory tract infection can result in significant respiratory compromise. When either lesion is suspected, nasal endoscopy or probing with a urethral sound is indicated. If the sound meets resistance, further evaluation is required. In most cases symptomatic therapy using saline nose drops and nasal suctioning is sufficient to help the infant through the upper respiratory tract infection. With growth, the problem usually abates, but in some cases surgery may be required.

A

B Figure 23-34  Choanal atresia. A, This infant manifested severe respiratory distress at delivery, with paradoxic cyanosis. Attempts to pass a urethral sound suggested bony obstruction of the choanae bilaterally. B, A CT scan done after instillation of radiopaque dye reveals pooling of the dye within the nose anterior to the choanae, confirming complete obstruction.

with unilateral choanal atresia (Fig. 23-35) are usually asymptomatic at birth; however, with time they develop a persistent unilateral nasal discharge. Choanal stenosis or anterior nasal (piriform aperture) stenosis is also generally asymptomatic in the newborn period,

Figure 23-35  Unilateral choanal atresia. Viewed through the nasopharyngoscope, the left choana is clearly patent, whereas the right is atretic. The child had a history of unilateral nasal discharge.

Congenital Mass Lesions Congenital mass lesions are another source of nasal obstruction. These are particularly likely to become apparent during the first 2 years of life. The modes of presentation vary; some lesions are manifest primarily by symptoms of obstruction and are detected by diagnostic radiography; others become visually evident within a nostril or as a subcutaneous mass located near the root of the nose. On occasion, these patients have recurrent nasal infections and/or epistaxis. All such masses merit thorough clinical and radiographic evaluation because many have intracranial connections. An encephalocele is an outpouching of brain tissue through a congenital bony defect in the midline of the skull. Some patients have craniofacial deformities and a rounded subcutaneous swelling between the eyes or adjacent to the nose. In other instances the neural tissue prolapses into the nasal cavity or nasopharynx, resulting in signs and symptoms of nasal obstruction without obvious external anomalies (Fig. 23-36, A). On occasion, a grapelike mass may be seen within the nares or protruding into the back of the mouth. The mass is usually identified by diagnostic radiography. CT (Fig. 23-36, B) is particularly helpful in delineating the extent of the mass and the underlying bony defect. Repair requires a collaborative effort by specialists in otolaryngology, neurosurgery, and in some cases plastic surgery. Nasal dermoids are embryonic cysts containing ectodermal and mesodermal tissue. They present as round, firm subcutaneous masses located on the dorsum of the nose, close to the midline (Fig. 23-37, A). Examination of the overlying skin frequently reveals a small dimple, at times with extruding hair. Some of these cysts have deep extensions down to the nasal septum or through the cribriform plate into the cranium. Thorough evaluation by axial and coronal CT scans (Fig. 23-37, B) and MRI is necessary to determine extent and to plan repair. If such cysts are not removed, secondary infection is common and often results in fistula formation. Papillomas (Fig. 23-38) are similar growths that occur on the distal nasal mucosa near the mucocutaneous junction. These growths should be excised to improve appearance and confirm diagnosis; they do not cause obstruction. Acquired Forms of Nasal Obstruction Adenoidal and Tonsillar Hypertrophy The lymphoid tissue that constitutes the tonsils and adenoids is relatively small in infancy, gradually enlarges until 8 to 10 years of age, and then usually begins to shrink in size. In most instances this normal process of hypertrophy results in mild to moderate enlargement of these structures and does not constitute a problem. A small percentage of children, however, develop marked adenoidal and tonsillar hypertrophy, with attendant symptoms of nasal obstruction and rhinorrhea. A few even have difficulty swallowing solid foods. Recurrent infection appears to be the most common inciting factor, although atopy may play a role in some cases. On occasion, mononucleosis is the initiating event, resulting in rapid enlargement of adenoidal and tonsillar tissues that is then slow to resolve (see Tonsillitis/Pharyngitis, later; and

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Nose

Nasal encephalocele

Maxillary sinuses

A

B

Figure 23-36  Nasal encephalocele. A, This normal-appearing infant had signs of severe nasal obstruction, necessitating insertion of a nasopharyngeal airway to relieve distress. B, A CT scan shows a large nasal mass lesion that fills one nostril and pushes the nasal septum into the other. This lesion proved to be an encephalocele extruding through a bony defect in the skull base (extrusion seen on another CT cut).

see Chapter 12). In most children, progressive adenoidal enlargement appears to be the cumulative result of a series of upper respiratory tract infections. The consequent obstruction to normal flow of secretions then starts a vicious circle, making the child more vulnerable to recurrent infections of the ears, sinuses, and nasopharynx, which in turn further exacerbate the adenoidal and tonsillar hypertrophy. Regardless of the mode of origin, when adenoidal hypertrophy is marked, blockage of the nasal airway becomes severe and results in mouth breathing, chronic rhinorrhea, inability to blow the nose, and snoring during sleep (Fig. 23-39, A). Speech becomes hyponasal and muffled. The child holds his or her mouth open and has little or no airflow through the nares, and his or her tonsils may also meet at the midline (Fig. 23-39, B). A lateral neck x-ray examination reveals a large adenoidal shadow impinging on the nasal airway (Fig. 23-39, C). For many patients these features are noted primarily in the course of acute illness; however, a number of children have symptoms even when free of acute infection. When obstruction is severe, sleep disturbance may result. This is characterized by restlessness and retractions when recumbent, snoring, and frequent waking. Some patients begin to sleep sitting up, and many manifest daytime fatigue, irritability, and short attention span. Symptoms are worse during sleep because relaxation of the pharyngeal muscles further increases the degree of upper airway obstruction. In severe cases this results

A

Figure 23-38  Nasal papillomas present as warty growths at the mucocutaneous junction of the nares. (Courtesy Michael Hawke, MD.)

in periods of hypoxia and hypercarbia. Because a patient may look relatively healthy when awake (with the exception of having to breathe through the mouth), it is important to observe for retractions and to assess the pattern of breathing after the child has been recumbent for a period of time or,

B

Figure 23-37  Nasal dermoid. A, A firm, round mass with a central dimple is seen over the bridge of this infant’s nose. B, CT scan demonstrates a bony dehiscence of the nasal bridge with a nasal dermoid extending into the anterior cranial vault in the area of the foramen cecum.

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A

B

C

E

D

Figure 23-39  Adenoidal and tonsillar hypertrophy. A, External appearance of a child with marked enlargement of tonsils and adenoids. He must keep his mouth open to breathe and shows signs of fatigue as a result of sleep disturbance caused by his upper airway obstruction. B, On examination of the pharynx, his tonsils are seen meeting in the midline. C, A lateral neck radiograph shows a large adenoid shadow impinging on the nasopharyngeal airway. D, If obstruction is prolonged, as was the case in this patient, cor pulmonale, abnormal facial elongation, and widening of the nasal root may result. E, When the palate is retracted before adenoidectomy, the extent of overgrowth of adenoidal tissue is readily appreciated.

better still, during a nap. Use of polysomnography or continuous pulse oximetry may help confirm or establish the diagnosis and determine the severity of sleep apnea. Polysomnography may be useful to assess the severity of the sleep-disordered breathing. If severe obstruction persists for a prolonged period of time, cor pulmonale (with signs of right ventricular hypertrophy on electrocardiogram and chest radiograph) and abnormal facial growth may result (Fig. 23-39, D).

Management of patients with adenoidal hypertrophy depends in part on the severity and the duration of the obstruction. In milder cases of short duration or in patients with intermittent symptoms, careful monitoring; treatment of atopy with intranasal steroids, when present; or institution of a 2- to 4-week course of antimicrobial therapy with a β-lactam–stable agent may result in significant shrinkage of hypertrophied tonsillar and adenoidal tissues. Children with persistent

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symptoms despite therapy and those with sleep disturbance or cor pulmonale should undergo adenoidectomy, during which the extent of adenoidal overgrowth can be fully appreciated (Fig. 23-39, E). Children with major orthodontic abnormalities and nasal obstruction also should be considered for adenoidectomy before orthodontic correction. Nasal Foreign Bodies As with the external ear, it is not unusual for small children to put beads, paper, pieces of sponge, plastic toys, or other foreign material into their noses. Such foreign objects are irritating to the nasal mucosa and soon incite an intense inflammatory reaction with production of a thick, purulent, foul-smelling discharge that helps to hide their presence. Intermittent epistaxis may accompany the discharge. Because most children younger than 5 years of age are unable to blow their noses and are afraid or unable to tell their parents what they have done, the object is not expelled and the problem often goes unrecognized until symptoms develop and medical attention is sought. A unilateral nasal discharge and/or a foul smell are the typical chief complaints and should lead the clinician to suspect a foreign body immediately (Fig. 23-40, A). Speculum examination may readily disclose the object (Fig. 23-40, B and C), but often the purulent discharge obscures the view, necessitating removal with an absorbent swab or via gentle suction. Even when visualization is accomplished, removal can be difficult because children are easily frightened at the prospect of instrumentation, and their struggling can result in mucosal injury during attempts at removal. To minimize problems, topical anesthetic spray and a topical vasoconstrictor can be applied, and the child can be restrained with a papoose board. Older patients or calm young children may do well sitting in a parent’s lap, if the examiner is patient, reassuring, and willing to explain each step carefully. The discharge may then be removed by swab or suction. If the object is anterior to the turbinates, removal can be attempted

using suction; a small wire loop curette; a right-angled Day hook for spherical objects; or otologic forceps for material that can be grasped (Fig. 23-40, C). Consultation with an otolaryngologist should be sought for removal of objects located more posteriorly or those not readily removed on initial attempts. A major concern is that in the attempted removal, a deeply situated foreign body may be dislodged into the nasopharynx, leading to aspiration or, worse, laryngeal obstruction. In such cases the best course of action is to remove the object after the airway has been secured with an endotracheal tube in the operating room, with the patient under general anesthesia. Significant bleeding may occur during attempted removal of an intranasal foreign body, and this is another reason to strongly consider general anesthesia with an endotracheal tube to secure the airway. Small batteries such as watch batteries in the nose can cause a great deal of tissue injury from the electric current. Therefore, all batteries should be removed as quickly as possible (Fig. 23-40, D and E). Nasal Polyps Polyps are thought to be the end result of recurrent infection and/or inflammation, although in a portion of cases, atopy may play a contributing role. Polyps originate in the ethmoid or, less commonly, the maxillary sinuses and protrude through the sinus ostia into the nasal cavity. The phenomenon is unusual in children younger than 10 years of age, with the exception of patients with cystic fibrosis, 25% of whom develop polyps, some as early as infancy. Symptoms consist of those of progressive nasal obstruction, frequently with associated discharge. Recurrent sinusitis is a common complication as a result of impaired sinus drainage. In some cases chronic sinusitis may be the cause of polyp formation. Affected patients with acute infections may also have intermittent epistaxis. Involvement may be unilateral or bilateral. On examination, moist, glistening pedunculated growths that may have a smooth or a grapelike appearance are seen (Fig. 23-41).

B

A

C

931

D

E

Figure 23-40  Nasal foreign body. A, This child had a unilateral, foul-smelling nasal discharge. B, Aspiration of the discharge in this patient revealed a red bead that was removed with a Day hook. C, Hartmann forceps, a small wire loop curette, and a right-angle Day hook are the instruments used most commonly for removal of nasal foreign bodies. Nasal spreaders assist visualization and create a wider space for inserting the desired instrument. Note that bleeding or aspiration of the nasal foreign body may occur, especially with uncooperative toddlers. Thus consideration should be given for removal of nasal foreign bodies in the operating room with general anesthesia and a controlled airway. D, Severe intranasal damage resulting from a nasal foreign body: a tiny watch battery. E, The watch battery removed. (A, Courtesy Michael Hawke, MD.)

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Figure 23-41  Nasal polyp. This 2-year-old girl with cystic fibrosis was referred because of nasal obstruction and nocturnal snoring of a few months’ duration. A large grayish polyp was found in the left nostril. Any child presenting with a nasal polyp should be tested for cystic fibrosis.

Figure 23-42  Sequelae of chronic nasal polyps. This 7-year-old girl with cystic fibrosis and recurrent nasal polyps shows secondary alteration in facial growth consisting of a broadened nasal root and prominence of the malar areas. This occurred despite several resections.

Bilateral opacification of the ethmoid and maxillary sinuses is commonly found on radiography. Polyps must be distinguished from a nasal glioma or encephalocele, which may have a similar appearance and can produce identical symptoms. These neural mass lesions are more common in infancy but may present in older children. Therefore, before biopsy or removal a CT scan of the sinuses and skull base should be considered for children with polypoid nasal lesions who do not have cystic fibrosis. Surgical removal of the polyps is indicated to relieve nasal obstruction, reduce the risk of secondary sinusitis, and diminish the possibility of altered facial growth. Another problem seen in children with chronic polyps (most frequently those with cystic fibrosis) consists of widening of the nasal root and prominence of the malar areas of the face (Fig. 23-42).

incurred during delivery). However, more severe injuries do occur and have a significant potential for long-term morbidity and deformity if not identified and treated appropriately. These injuries include displaced nasal fractures (Fig. 23-43, A and B), which, if not reduced, result in permanent deformity; septal deviation or dislocation, with or without an associated fracture (Fig. 23-44), which produces unilateral impairment of airflow; and septal hematomas (Fig. 23-45, A), which, if not drained promptly, may lead to abscesses (see Chapter 6) and cause destruction of nasal cartilage, resulting in a saddle-nose deformity (Fig. 23-45, B). Finally, profuse bleeding that is difficult to stop or that recurs readily suggests trauma to deeper structures of the face or frontal bones and warrants prompt stabilization and meticulous clinical and radiographic assessment (see Chapter 20). In evaluating patients with nasal trauma, the nasal bridge should be inspected for swelling or deformity (the latter may not be apparent if swelling is marked) and the septum palpated for tenderness, crepitus, or excessive mobility. The nares should be cleared of clots, and the septum assessed for position and presence of swelling, which would suggest a hematoma. A hematoma is soft on palpation of the septum with a

Nasal Trauma Blunt nasal trauma is frequently encountered in pediatrics. In the majority of instances it results only in minor swelling and mild epistaxis, which is readily controlled by application of pressure over the nares (see Chapter 2 for nasal trauma

Frontal bone

Displaced fracture

A

B

Figure 23-43  Displaced nasal fracture. A, This teenager was hit on the nose while playing football. On external inspection there is obvious deformity, and there are ecchymoses under both eyes. Crepitus was evident on palpation. B, A lateral radiograph of another patient shows a displaced fracture of the proximal portion of the nasal bone, delineated on the diagram.

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933

A

Deviated septum Hematoma

Figure 23-44  Deviated nasal septum. This patient was punched in the nose, resulting in a leftward deviation of the cartilaginous portion of the nasal septum, which is clearly visible in the radiograph and is delineated in the diagram. The small arc of mucosal swelling along the septum proved to be a small septal hematoma that necessitated drainage. No visible fracture occurred. Septal deviation requires correction to prevent deformity and to relieve secondary nasal obstruction.

cotton-tipped applicator. Examination of the oropharynx is also helpful in determining whether blood is flowing posteriorly. When marked swelling, severe tenderness, deformity, crepitus, or septal deviation is found, radiologic evaluation may be considered. However, radiographs should be interpreted with caution because a large portion of the nasal skeleton in children is composed of cartilage rather than bone and serious nasal injuries can be present despite a seemingly normal x-ray film. Septal hematomas, displaced fractures, and bleeding that fails to cease readily with direct pressure necessitate prompt consultation with an otolaryngologist.

B Figure 23-45  Septal hematoma. This patient incurred facial trauma (A) resulting in multiple fractures of the nasal and orbital bones and submucosal bleeding along the nasal septum. Such septal hematomas must be drained promptly to reduce the risk of abscess formation and to prevent cartilage necrosis, which ultimately results in a saddle-nose deformity (B). (A, Courtesy Robert Hickey, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

1. Is the problem acute or recurrent? 2. Was external or intranasal trauma, sneezing, or blowing a triggering event? 3. What is the duration of the current bleed and the approximate volume of blood loss (handkerchiefs soaked, hemodynamic status, etc.)? 4. Is the bleeding unilateral or bilateral? 5. Are there any unilateral nasal obstructive symptoms?

Epistaxis Although often due to direct trauma, nasal bleeding in childhood has a number of other causes including infection, mucosal irritation, bleeding disorders, vascular anomalies, and hypertension. Patients with these conditions may have apparently spontaneous bleeding or epistaxis triggered by minor external trauma or by forceful sneezing and blowing. Profuse bleeding that is difficult to stop is most characteristic of acute thrombocytopenia, vascular anomalies, and severe hypertension. Mild bleeding that is readily controlled by application of pressure suggests mucosal infection or irritation that promotes bleeding from small superficial veins located on the anterior nasal septum (Fig. 23-46). In all cases the problem should be taken seriously and investigated carefully to correctly diagnose and appropriately treat the primary source of the problem. In approaching patients with epistaxis, the following historical points should be addressed:

Figure 23-46  Dilated septal vessels of Kiesselbach plexus, which tend to bleed in response to mucosal drying, cracking, infection, or irritation. (From Becker W: Atlas of ear, nose, and throat diseases, ed 2, Stuttgart, 1983, Thieme.)

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6. Has the patient been having symptoms suggestive of an upper respiratory tract infection or nasal allergy? 7. Has the child manifested other signs and symptoms of an underlying coagulopathy or of hypertension? 8. Has the patient been taking medication, especially aspirin, ibuprofen, intranasal steroid sprays, or other nonsteroidal antiinflammatory or anticoagulant agents? Physical assessment must address the patient’s general wellbeing in addition to careful examination of the nose. Hemodynamic status is of particular importance when hemorrhage has been profuse. After observation of the external appearance of the nares, the nose is cleared of clots and discharge, if present. The septum and mucosa are then inspected for possible points of hemorrhage, signs of obstruction, mass lesions, and foreign objects. The oropharynx should also be examined for posterior flow of blood, especially when no point of bleeding is evident on inspection of the nasal mucosa. Otolaryngologic consultation should be sought in cases involving profuse bleeding that does not readily cease on application of pressure and may require nasal cautery or packing or other surgical treatment. Epistaxis Caused by Infection and Mucosal Irritation In many patients with nontraumatic epistaxis, examination reveals unilateral or bilateral septal erythema and friability or excoriation (Fig. 23-47). The history given is one of intermittent bleeding, especially with sneezing, blowing the nose, or during sleep (the child’s pillow is found spotted with blood). The phenomenon is commonly attributed to digital manipulation of the nose in response to itching. However, in view of the sensitivity of the mucosa to painful stimuli, picking to the point of excoriation is rather unlikely. In many instances erythematous friable areas are impetiginous or represent the combined effects of inflammation (the result of nasopharyngitis, sinusitis, or allergic rhinitis) and trauma caused by forceful sneezing and blowing. When infection is suspected, culturing of the friable area for a predominant bacterial pathogen (especially group A β-hemolytic streptococci or coagulasepositive staphylococci) may prove rewarding. In patients with no history of or no findings consistent with upper respiratory tract infection, mucosal drying may be responsible. This occurs most commonly in winter as a result of drying of the

Figure 23-47  Excoriated nasal septum. This child presented with an upper respiratory tract infection and a history of intermittent epistaxis with nasal blowing and nocturnal epistaxis, with blood noted on his pillow in the mornings. He had a purulent nasal discharge (lower right) and a diffusely excoriated erythematous septum. Cultures of nose and throat specimens grew group A β-streptococci.

air by central heating systems. Although application of topical antibiotic ointment, water-based lubricants, humidification, and antihistamines (for atopic patients) may provide some relief, when bacterial pathogens are found, oral antimicrobial therapy is more likely to be successful. Patients with nasal polyps who have an intercurrent infection and children with nasal foreign bodies with secondary infection and inflammation are also highly prone to intermittent epistaxis and blood-tinged nasal discharge. Epistaxis Caused by Bleeding Disorders Despite application of pressure, epistaxis in patients with coagulopathies is more likely to be prolonged and carries a greater risk of significant blood loss. Although many such patients have known bleeding disorders, a few may present with prolonged or recurrent nosebleeds as one of the initial manifestations of their problem. This is most typical of idiopathic thrombocytopenia, aplastic anemia, and acute leukemia. When epistaxis arises in the context of a bleeding disorder, the personal history, family history, and/or other physical findings should point to the diagnosis (see Chapter 11), which can then be confirmed by hematologic studies (complete blood count and differential, platelet count, prothrombin time and partial thromboplastin time, and coagulation profile). Acute management depends in part on the source of the coagulopathy (e.g., factor replacement or platelet transfusion) and in part on the severity of bleeding. Topical application of a vasoconstrictor such as epinephrine and insertion of absorbable synthetic material that aids coagulation (Gelfoam or Surgicel) can be helpful in patients with thrombocytopenia and an anterior point of bleeding. The risks of secondary infection with packing must be given careful consideration in patients undergoing immunosuppressive therapy. Prophylactic antimicrobials should be administered to patients requiring packing to avoid secondary infections. Epistaxis Caused by Vascular Abnormalities In a minority of children with recurrent epistaxis, the history reveals significant bleeding that typically drains from one side of the nose. This suggests a localized vascular abnormality. The most commonly encountered problem is that of a dilated septal vessel or plexus, which may be a sequela of prior inflammation (see Fig. 23-46). This may be visible anteriorly but also can be located high on the septum, requiring nasal endoscopy for identification. Cauterization is generally curative. In children older than 7 years of age, anterior septal lesions can be cauterized in the office with silver nitrate after application of a topical anesthetic and vasoconstrictor. Younger children and many patients with posterior lesions may need general anesthesia for cauterization. Two relatively rare vascular anomalies also may be the source of recurrent nasal bleeding: telangiectasias and angiofibromas. Patients with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) have an autosomal dominant disorder characterized by formation of cutaneous and mucosal telangiectatic lesions that begin to develop in childhood and gradually increase in number with age. These lesions appear as bright red, slightly raised, star-shaped plexuses of dilated small vessels that blanch on pressure (Fig. 23-48). Mucosal telangiectasias may bleed spontaneously or in response to minor trauma. Recurrent epistaxis is a common mode of presentation in childhood. Multiple telangiectasias are evident on close examination. Hematuria and/or gastrointestinal bleeding may be seen separately or in combination with epistaxis. Juvenile nasopharyngeal angiofibroma is a rare vascular tumor seen predominantly in adolescent boys. Although benign, it is locally invasive and destructive and may involve the maxillary sinuses, palate, sphenoid sinus, and portions of

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Figure 23-48  Hereditary hemorrhagic telangiectasia. Numerous telangiectasias dot the lips and the nasal and palatal mucosa of this boy who had problems with recurrent epistaxis. (Courtesy Bernard Cohen, MD, Johns Hopkins Hospital, Baltimore, Md.)

the skull base. The most common mode of presentation is one of profuse, often recurrent epistaxis. Some patients also have symptoms of unilateral nasal obstruction with secondary rhinorrhea, and a small percentage may have visual, auditory, or other cranial nerve disturbances. On examination, a purplish soft tissue mass may be seen through the nares or on nasal endoscopy. In addition to standard radiographs, CT, MRI, and angiography may be necessary to assess the extent of the tumor (Fig. 23-49). Carefully planned excision is then the treatment of choice. Epistaxis Caused by Hypertension In contrast to the adult population, hypertension is an unusual source of epistaxis in childhood. However, it should be considered, especially in patients with antecedent headache and spontaneous, profuse bleeding that is difficult to stop. Patients with such a history may have previously undiagnosed coarctation of the aorta or chronic renal disease with severe secondary hypertension, and they should be examined with these possibilities in mind. It must be remembered that after significant blood loss, blood pressure may drop to normal levels.

DISORDERS OF THE PARANASAL SINUSES AND ADJACENT STRUCTURES The paranasal sinuses are air-filled, bony cavities that lie within the facial bones of the skull, adjacent to the nasal passages. They develop through a gradual enlargement of

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pneumatized cells that evaginate from the nasal cavity. This process occurs over the course of childhood and adolescence; there is a wide normal range in the duration of this process and in the ultimate size of the sinuses and their ostia (Fig. 23-50). In infancy the ethmoid and maxillary sinuses are partially pneumatized, but they are small and not readily demonstrable on radiographs (although they can be readily seen on a CT scan). Therefore radiographs are of little diagnostic value until after the first 2 years of life. The sphenoid sinus is not evident until about 5 to 6 years, and the frontal sinuses are not well developed until after 7 to 8 years of age (Fig. 23-51). The sinuses are lined by ciliated respiratory epithelium, which produces and transports mucous secretions. They drain into the nasal cavity through various small openings, which are located under the middle turbinate. Several points of clinical importance warrant emphasis. First, the ostia of the sinuses are small and thus easily obstructed by mucosal edema. Further, there are many important structures adjacent to the sinuses that are vulnerable to involvement if a disease process spreads beyond a sinus. These include the orbit, the brain, and the cavernous sinus. The roots of the maxillary teeth lie in the floor of the maxillary sinuses. Therefore dental infections may drain into the maxillary sinuses, resulting in recurrent or chronic sinusitis. Hence the dentition should be thoroughly inspected in evaluating any child with suspected sinus infection (see Chapter 20).

Sinusitis During the first several years of life, infection of the maxillary and/or ethmoid sinuses is more common than is generally appreciated. Frontal sinusitis becomes important after about 10 years of age. The probable pathogenesis is mucosal swelling (whether the result of upper respiratory tract infection, allergic rhinitis, or chemical irritation), resulting in obstruction of the sinus ostia. This impedes drainage of secretions; promotes mucous plugging; and, if prolonged, sets the stage for proliferation of bacterial pathogens with resultant infection. Both bacterial and viral pathogens have been isolated from pediatric patients. The most commonly identified bacteria are S. pneumoniae, nontypable H. influenzae, and Moraxella catarrhalis. The viral agents include adenoviruses and parainfluenza viruses. As in adults, no good correlation exists between results of nasopharyngeal and sinus aspirate cultures. There is, however, an approximately 80% correlation between middle meatus and sinus cultures. The middle meatus is the space between the middle and inferior turbinates where the frontal, maxillary, and ethmoid sinuses all drain. A culture of the middle meatus may be obtained by means of an otoscope and a small culture swab.

Maxillary sinuses Angiofibroma

Figure 23-49  Juvenile nasopharyngeal angiofibroma. A CT scan is helpful in assessing the extent of this locally invasive vascular tumor. In this cut, an enhancing mass (an angiofibroma, as delineated in the diagram) is seen occupying the posterior portion of the left nostril, deviating the septum and compressing the ipsilateral maxillary sinus.

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THE PARANASAL SINUSES Maxillary sinus

Ethmoid sinus

12 years

12 years Sphenoid sinus

8 years

8 years

3 years 1 years 6 months

3 years 1 years 6 months Birth 3 years 5 years 7 years 12 years

B

Adult

A Figure 23-50  Development of the paranasal sinuses. A, This schematic diagram shows the development of the maxillary and ethmoid sinuses. Note that development occurs throughout childhood and may not be complete until 12 years of age. B, The sphenoid sinus, which sits under the pituitary fossa, develops slowly and may not even be well aerated for the first 5 to 6 years of life.

As with otitis media, a number of conditions predispose children to sinus infections by virtue of alterations in anatomy and/or physiology. These conditions include midfacial anomalies or deformities, particularly when maxillary hypoplasia is part of the picture (see Fig. 23-8); cleft palate (see Palatal Disorders, later); nasal deformity and/or septal deviation, whether congenital or acquired; mass lesions including hypertrophied adenoids, nasal foreign bodies, polyps, and tumors; abnormalities of mucus production and/or ciliary action such as cystic fibrosis and ciliary dyskinesia; immunodeficiency; atopy; dental infection; and barotrauma. Clinical Presentations In young children, sinusitis is primarily a disorder of the ethmoid and maxillary sinuses, and the clinical picture differs considerably from that seen in adolescents and adults. The most common picture is one of a prolonged upper respiratory tract infection that has shown no sign of amelioration after 7 to 10 days. Cough and/or persistent nasal discharge (of any character—thin, thick; clear, cloudy; white, yellow, or green) are the major complaints. The cough is usually loose or wet; it is prominent during the day but may be worse on waking in the morning and/or on first going to bed at night. Patients tend to clear their throats and sniff or snort frequently, especially after sleep. Halitosis or “fetor oris” is commonly noted by parents. In a minority of children, periorbital swelling, most noticeable on awakening, may be reported (Fig. 23-52). A small percentage of patients have a low-grade fever, and a few may complain of headache, facial discomfort, sore throat, or abdominal pain (thought to be due to gastric irritation from swallowing the infected postnasal discharge).

Often, physical examination alone is of little help in distinguishing sinusitis from an upper respiratory tract infection. Findings may include purulent nasal and postnasal discharge with erythema of the nasal mucosa and pharynx, but, as noted previously, this is not uniformly seen. Halitosis may be pronounced and strongly suggests sinusitis in the absence of evidence of dental infection, severe pharyngitis, or nasal foreign body. Sinusitis is also probable when features of the aforementioned picture are accompanied by signs of a maxillary dental abscess (see Chapter 20). Tenderness to percussion over the sinuses suggests sinusitis but is not seen in the majority of patients with the “prolonged upper respiratory tract infection” picture. The clinical spectrum is wide; any combination of the aforementioned symptoms and signs may be present, and sinusitis should be suspected, even if the course is relatively brief, whenever clinical findings are strongly suggestive. A less frequent mode of presentation in young children is that of an acute upper respiratory tract infection that is unusually severe, which is characterized by high fever and copious purulent nasal discharge. Facial discomfort and periorbital swelling (nontender, nonindurated, and most marked on waking) are common with this picture. The edematous area may be normal in color or mildly erythematous (Fig. 23-53) and is thought to result from impairment of venous blood flow caused by increased pressure within the infected sinuses. Some of these patients also have conjunctival erythema and discharge. If periorbital erythema is intense or the area is indurated or tender, periorbital cellulitis should be suspected. On occasion a child with sinusitis has the typical findings of sympathetic edema but without high fever or the prolonged upper respiratory tract infection picture.

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C

B

A

Ethmoid sinuses Maxillary sinus

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Frontal sinuses Ethmoid sinuses Maxillary sinuses

Well-aerated maxillary sinuses

Nasal turbinates

Frontal sinus Sella turcica Sphenoid sinus Maxillary sinus Tooth buds Maxilla

D Figure 23-51  Normal radiography of the sinuses. Radiography is currently the most helpful noninvasive tool for evaluating the paranasal sinuses. Interpretation requires appreciation of the normal pattern of development and the findings in health and with disease. A, Anteroposterior, or Caldwell, view shows clear ethmoid sinuses in an 18-month-old child. The bony margins are sharp, and the sinus cavities are dark. B, The Waters view of the same child shows normal maxillary sinuses with sharply defined bony margins. The cavities appear black. C, After age 6 or 7, the Caldwell view is taken posteroanteriorly. In this 8-year-old boy, the bony margins of both the ethmoid and frontal sinuses are sharply defined. Because the calvarium is superimposed, it can be difficult to appreciate frontal sinus clouding on this view alone, particularly with bilateral disease. Therefore evaluation of the frontal sinuses requires close scrutiny of both Caldwell and lateral views. D, Lateral view of an 8-year-old child shows pneumatization of the frontal and sphenoid sinuses. Bony margins are sharply defined. The frontal sinuses appear black, but the sphenoid is somewhat gray because there are more overlying structures. Note that the roots of the maxillary teeth are embedded in the floor of the maxillary sinus. Note that plain sinus radiographs are quite inaccurate when compared with sinus CT for the diagnosis of sinusitis.

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aggravation of pain with head movement, particularly on bending down and then straightening up. Swallowed discharge may produce significant abdominal discomfort as well. Coughing is often a feature but tends to be less prominent than in younger children. Physical findings include purulent (often blood-streaked) nasal and postnasal discharge, erythema of the nasal mucosa, and halitosis. Tenderness on sinus percussion is common. As with younger children, the clinical spectrum is wide and highly variable.

Figure 23-52  Sympathetic periorbital swelling with sinusitis. This 2-year-old boy was seen late in the afternoon with fever, wet cough, decreased activity, and mild infraorbital puffiness. The swelling was neither red, indurated, nor tender and reportedly had been more marked on awakening in the morning. He also had a scant cloudy nasal discharge. His chest radiograph was normal, but sinus films showed opacification of the maxillary sinuses.

Older children and adolescents with acute maxillary and/ or ethmoid sinusitis may have either of the previously described symptom pictures but are more likely to complain specifically of headache and/or facial pain. The headache may be perceived as frontal, temporal, or even retroauricular. Facial discomfort can be described as malar pain or a sense of pressure or fullness. On occasion, patients complain that their teeth hurt (in the absence of dental pathology). When the frontal sinuses are involved, frontal or supraorbital headache is prominent, often perceived as dull or pulsating. The sphenoid sinus is rarely a site of isolated sinus infection, but it is often involved in pansinusitis, in which case occipital or vertex pain may be reported in addition to discomfort in other sites. Frequently the headache is intermittent. When constant, it varies in severity. This variability appears to be related to degree of drainage. Patients reporting copious “postnasal drip” tend to have less pain. Discomfort and congestion are often most marked on waking, probably as a result of recumbency and lack of gravity-promoted drainage. Some patients also report

Figure 23-53  This child with sinusitis had prominent erythematous periorbital edema and signs of purulent conjunctivitis. The redness raised concerns of periorbital cellulitis, but the area was nontender and not indurated. Presence of periorbital swelling is a helpful clue in diagnosing sinusitis in children with other suggestive signs and symptoms. (Courtesy Ellen Wald, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.)

Ancillary Diagnostic Methods When patients have most of the signs and symptoms of sinusitis, the diagnosis can be made on clinical grounds and treatment started empirically. This is particularly true for the younger child with the prolonged upper respiratory tract infection picture. Amoxicillin remains the drug of first choice for patients who are not allergic to penicillin. If there is no clear clinical improvement in 3 to 4 days, switching to amoxicillin/ clavulanate or a comparable antimicrobial is indicated. If this also fails to produce clinical improvement in 3 to 4 days, resistant pneumococci may be the likely culprits, and highdose amoxicillin/clavulanate, clindamycin, or an agent to which the organism is likely to be sensitive is indicated. Sulfa drugs or clindamycin often cover community-acquired methicillin-resistant Staphylococcus aureus. In less clear-cut cases, ancillary tools and tests are often necessary. The usefulness of the various diagnostic methods in evaluating suspected sinusitis is still under study. Radiography appears to be the most helpful noninvasive tool in children older than 2 years of age. Radiographs are most useful in patients in whom the clinical picture is not distinct enough to distinguish between sinusitis and allergic rhinitis and in patients who fail to respond to antimicrobial therapy as noted earlier. Findings of complete opacification, mucosal thickening greater than 4 mm, or an air–fluid level on standard radiography (Fig. 23-54) are strongly associated with positive findings on sinus aspiration. However, the wide range of variability in development and configuration of the sinuses can make interpretation difficult. Plain radiographs of the sinuses have been shown to both overestimate and underestimate the degree of sinusitis when compared with CT of the sinuses. The CT scan (Fig. 23-55) is the most sensitive modality for diagnosis and is considered the gold standard, but it can be falsely positive in patients with viral upper respiratory tract infections, is expensive, and may require sedation of the younger patient for an adequate examination. Thus it should be reserved for patients with possible complications of sinusitis, underlying anatomic abnormalities, or suspected chronic sinusitis who fail to respond to a prolonged course of antimicrobial therapy. Needle aspiration of the sinuses is conclusive but invasive and not without risk. It is, however, justified in patients with severe symptoms, patients with CNS or orbital extension, those not responding to treatment, and those who are immunocompromised or immunosuppressed. Middle meatus culture is also useful to detect the bacterial pathogen in sinusitis. Middle meatus cultures correlate with sinus cultures about 80% of the time. At minimum, therapy consists of a 10- to 14-day course (or until the patient is symptom free for 7 days) of an antimicrobial agent suitable to the likely spectrum of organisms (see preceding paragraph). It is not unusual for a 3- to 4-week course of therapy with a β-lactam–stable agent to be required. Analgesia is given as needed for discomfort and perhaps an oral antihistamine or topical intranasal steroid spray in patients known to have allergic rhinitis. Some children with intense headaches or facial pain experience symptomatic relief by using topical nasal vasoconstrictors and warm compresses during the first 1 or 2 days of therapy. Patients with sinusitis

A

B

C

D

E

F

Figure 23-54  Radiographic findings in sinusitis. A, In this Caldwell view, the right ethmoid is clouded and the bony margins are less distinct than on the left. B, In this Waters view, complete opacification of both maxillary sinuses is evident. The bony margins are visible but faint. C, This child has significant mucosal thickening of the maxillary sinuses. Thickening greater than 4 mm has a strong association with positive culture on sinus aspirate. D and E, In another patient an air–fluid level can be seen in the left maxillary sinus on both Waters and lateral views. F, Differential opacification of the right frontal sinus is evident in this child who had fever and headache. (D and E, Courtesy J. LedesmaMedina, MD; F, courtesy C.D. Bluestone, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.) Figure 23-55  CT findings in acute sinusitis. A, In the topographic view the examiner can identify the position of each slice and also has an excellent view of the adenoid bed. B, The coronal view shows the maxillary– ethmoidal relationship in conjunction with the orbit. Note that the ethmoids are clear but the right maxillary sinus is completely opacified, and the left maxillary sinus is nearly so with only a small air pocket visible. C, This axial view shows patchy ethmoidal clouding. D, Marked mucosal thickening of both maxillary sinuses is shown in this axial view.

A

B

C

D

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

should be instructed to avoid swimming underwater or diving until completion of therapy because the resultant barotrauma aggravates symptoms and may promote intracranial spread of infection.

true of the lamina papyracea, which separates the ethmoid air cells from the orbits (Fig. 23-56). Increased sinus pressure occurring as a result of ostial blockage and fluid collection can cause separation of portions of these bony structures and extension of the sinus infection into the orbit. Facial vascular anatomy also contributes to the spread of infection. The veins of the face, nose, and sinuses drain in part into the orbit and then into the ophthalmic venous system, which is in direct continuity with the cavernous sinus. The ophthalmic veins have no valves and thus may provide less defense against spread of infection. The orbit is also devoid of lymphatics, which helps explain the ease of periorbital edema formation when there is increased sinus pressure. The relative looseness

Complications of Sinusitis Infectious sinusitis is important not only because of the discomfort it causes, but also because there is a significant risk of extension of infection and secondary complications. This risk stems from several anatomic factors. First, the sinuses surround the orbits superiorly, medially, and inferiorly. The bony plates that make up the sinus walls are thin and porous, and their suture lines are open in childhood. This is especially

Frontal sinus

Superior rectus muscle

Levator muscle

Frontal bone

Orbital septum

Optic nerve Orbital septum Inferior oblique muscle Maxillary sinus Maxilla

A

Ethmoidal labyrinth

Globe

Orbital septum

Bony margins of orbit (lamina papyracea) Lens

Orbital fat

Rectus muscle

Optic nerve

Sphenoid sinus Optic foramen

Temporal lobe

B Figure 23-56  The anatomy of the orbit. A, Sagittal section shows the relationship of the orbit to the maxillary and frontal sinuses and the position of the orbital septum within the eyelid. The latter structure appears to serve as an anatomic barrier, helping to prevent the spread of infection from periorbital tissues into the orbit. B, In this horizontal section the close relationship of the orbit to the ethmoid sinuses is apparent.

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A

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B

Figure 23-57  Pott puffy tumor. A and B, This patient had fever, headache, and an erythematous swelling over the forehead that was exquisitely tender and had a doughy consistency. C, A lateral radiograph shows frontal sinus clouding, irregularity of the frontal bone, and marked soft tissue swelling that is highlighted by a wire placed over the forehead and scalp. (C, Courtesy Kenneth Grundfast, MD, Boston Medical Center, Boston, Mass.)

of the subcutaneous tissues of the face also assists edema collection and may aid in spread of infection. As a result of these factors, direct extension of infection can occur (1) into the periorbital soft tissues, producing periorbital cellulitis; (2) through the bony walls into the orbits, resulting in orbital cellulitis or a subperiosteal abscess within the bony orbit; (3) via erosion outward through the frontal bone, producing a Pott puffy tumor; or (4) via erosion inward through the frontal bone, resulting in an epidural abscess. On rare occasions, hematogenous seeding of bacteria may occur. Fortunately, improved recognition of sinus infection and early use of antimicrobial therapy, whether before or early in the course of recognized extension, have reduced the frequency, severity, and morbidity of these disorders. Pott puffy tumor and epidural abscess, being direct complications of frontal sinusitis, are discussed next. Periorbital and orbital cellulitis, stemming at times from sinusitis and at times from other predisposing conditions, are covered in the subsequent section. Pott Puffy Tumor Frontal sinusitis assumes importance after 8 to 10 years of age (once the frontal sinuses have begun to form) and has the potential for serious complications, particularly when neglected or inadequately treated. Erosion occurring anteriorly through the frontal bone results in formation of a subperiosteal abscess, classically known as a Pott puffy tumor. This is seen as an erythematous frontal swelling with a doughy consistency and exquisite tenderness (Fig. 23-57). Affected patients tend to be toxic, febrile, and extremely uncomfortable. Prompt surgical drainage is of utmost importance. A CT scan should be obtained before surgical drainage to evaluate the extent of the abscess and to identify other sites of spread. Osteomyelitis of the frontal bone is present, and long-term IV antimicrobials are required for Pott puffy tumor. Epidural Abscess Another potential complication of frontal sinusitis is the formation of an epidural abscess as the result of erosion through the posterior wall of the frontal bone. This should be suspected in patients with frontal sinusitis who have unusually high temperature, unusually severe headache, signs of toxicity, or altered sensorium. Diagnosis is best confirmed by CT scan (Fig. 23-58) and MRI. Although IV antimicrobial therapy and careful monitoring may suffice in the management of

C

small lesions, larger abscesses necessitate neurosurgical consultation and surgical intervention. Further extension of these infections may result in brain abscess (see Chapter 15).

Periorbital and Orbital Infections Periorbital Cellulitis Caused by Spread from Adjacent Sinusitis Periorbital cellulitis is the mildest of the complications of infectious sinusitis. The cellulitis is confined to tissues outside the orbit, with spread blocked in part by the orbital septum (see Fig. 23-56). When sinusitis is the underlying condition, the ethmoid or maxillary sinuses are the structures primarily affected. Typically, patients are younger than 4 or 5 years of age and have an antecedent history of upper respiratory tract infection with or without conjunctivitis, otitis, or sinusitis. This is superseded by the sudden appearance of lid and periorbital swelling. In contrast to the uncomplicated sympathetic edema seen in some patients with sinusitis, the swelling in

Figure 23-58  Epidural abscess. This patient had lethargy, high fever, left eye pain, and periorbital swelling after 1 week of severe nasal congestion. A CT scan, obtained to rule out orbital involvement, revealed a small epidural abscess behind the left frontal bone. Note the small central air pocket.

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Figure 23-59  Periorbital cellulitis. Intense erythema and edema of the lids are evident. The swollen tissues were indurated and tender on palpation. Ocular motion was normal. Underlying ethmoid sinusitis was confirmed by CT scan.

children with periorbital cellulitis is usually unilateral and is erythematous, indurated, and tender (Fig. 23-59). Conjunctival injection and discharge may also be seen. In many patients a secondary increase in temperature accompanies the onset of swelling, but although most patients appear uncomfortable, toxicity is unusual. The course of periorbital cellulitis resulting from extension of sinus infection is milder and characterized by much slower progression than is true of cases resulting from hematogenous spread. Periorbital Cellulitis Caused by Hematogenous Spread When periorbital cellulitis is the result of hematogenous seeding, the organisms tend to be more virulent, the onset more explosive, and the course more fulminant. Typically the patient experiences sudden onset of high fever (often after a mild upper respiratory tract infection) accompanied by the appearance of erythematous, indurated, and tender periorbital swelling, which progresses rapidly and is accompanied by signs of systemic toxicity. The majority of these patients are younger than 1 year of age or only slightly older, and bacteremia with S. pneumoniae or H. influenzae type B is usual. Widespread use of the H. influenzae type B vaccine has dramatically reduced the incidence of H. influenzae B–induced cellulitis. Periorbital Cellulitis Caused by Spread from Adjacent Facial Infection More than 50% of children with periorbital cellulitis have neither sinusitis nor bacteremia as a predisposing condition. Rather, the patients appear to suffer from extension of nearby facial infection to periorbital tissues. They may have a history of antecedent trauma to the orbit or nearby facial structures, often with a break in the skin (Fig. 23-60) or one of a primary skin infection (impetigo, a pustule, a chalazion, infected dermatitis, or insect bite). They subsequently experience a temperature spike and evolution of periorbital and eyelid edema. This group tends to be somewhat older, generally older than 5 years of age. Staphylococcus aureus and group A β-hemolytic streptococci are the predominant offending organisms. Diagnostic Studies A number of cultures are often obtained in an attempt to isolate the causative pathogen in cases of periorbital cellulitis. Needle aspiration of the leading edge of the cellulitis has perhaps the highest yield but requires caution. It is perhaps best avoided when the inflamed area does not extend well beyond the orbital rim because of the risk of eye injury if the patient moves suddenly, despite efforts to immobilize his or her head.

Cultures of adjacent skin wounds, when present, are also commonly positive. Nasopharyngeal and conjunctival drainage reveals the offending organism in about one half to two thirds of cases, respectively. Blood cultures are positive in about one third of patients overall, with the highest incidence found in cases caused by hematogenous spread. Sinus radiographs show opacification in more than two thirds of patients without antecedent trauma or skin lesions and in about 40% to 50% of patients with such a history. Ethmoid opacification is the predominant finding. Middle meatus culture, but not nasal culture, may be useful for detection of the sinus pathogen. Radiographic interpretation can be difficult, however, because overlying edema may give a false impression of clouding. In addition, standard radiographs are relatively useless in most cases of hematogenous origin because the patients are typically younger than 1 year of age. CT, however, is an excellent tool for assessing the extent of infection and the presence or absence of sinus opacification, as well as for detecting evidence of early orbital involvement. Because of the severity and the potential for further extension and hematogenous spread, aggressive IV antimicrobial therapy is urgently required. This necessitates empirical selection of agents to cover likely pathogens, pending culture results. Patients also require close monitoring for signs of complications. Orbital Cellulitis In orbital cellulitis, infection extends into the orbit itself. It may take the form of undifferentiated cellulitis, or it may later evolve into a subperiosteal or orbital abscess. Patients tend to have a history similar to that of patients with periorbital cellulitis but are generally more ill, toxic, and lethargic. The most common source of spread is from an adjacent infected ethmoid sinus, although extension from nearby frontal sinusitis or a facial or dental infection occasionally occurs. Causative organisms are the same as those in periorbital cellulitis. Patients old enough to be articulate describe intense, deep retro-orbital pain aggravated by ocular movement. Edema and erythema of the lid and periorbital tissues are often so marked that it is impossible to open the eye without the use of lid retractors (Fig. 23-61, A and B). Tenderness is exquisite. If the lid can be retracted, the clinician may find proptosis, conjunctival inflammation with chemosis and purulent discharge, decreased extraocular motion, and some loss of visual acuity. Ophthalmologic consultation is required. Aggressive IV antimicrobial therapy and close monitoring for evolution and CNS complications are vital in the

Figure 23-60  Periorbital cellulitis caused by spread of an adjacent facial infection. This child developed fever and erythematous, tender periorbital swelling a few days after incurring an abrasion as a result of a fall.

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A

B

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C

Figure 23-61  Orbital subperiosteal abscess. A and B, This child had a fever, severe toxicity, and marked lethargy. He experienced intense orbital and retro-orbital pain and showed a limited range of ocular motion with associated exacerbation of pain. C, This CT scan shows preseptal swelling, proptosis, and lateral displacement of the globe and orbital contents by a subperiosteal abscess.

management of orbital cellulitis. CT is exceptionally useful for determining the presence or absence of abscesses (Fig. 23-61, C). When a subperiosteal abscess is present or the clinical ocular examination shows deterioration, surgical drainage combined with an ethmoidectomy are indicated. It is now possible to perform the ethmoidectomy and abscess drainage endoscopically in most patients. Optimal management necessitates a team approach involving pediatrics, otolaryngology, ophthalmology, and at times neurosurgery. Local complications of orbital cellulitis include abscess formation, optic neuritis, retinal vein thrombosis, and panophthalmitis. CNS complications may result from direct extension or spread of septic thrombophlebitis. Meningitis, epidural and subdural abscesses, and cavernous sinus thrombosis have been described. All are characterized by marked toxicity and alteration in level of consciousness. Cavernous sinus thrombosis is heralded by sudden, bilateral, pulsating proptosis and chemosis in association with increased toxicity and obtundation.

Atopic Disorders Allergic Rhinitis with Postnasal Discharge Patients with allergic rhinitis appear to be more susceptible to infectious sinusitis than nonatopic individuals, probably as a result of mucosal swelling in response to allergen exposure and alterations in ciliary action. They can also have symptoms mimicking sinusitis in the absence of infection, and this can be a source of confusion. Two major clinical pictures are seen. In the first, nasal congestion, nighttime cough, and morning throat clearing are prominent. Some patients may complain of morning nausea, and a few may have morning emesis with vomitus containing large amounts of clear mucus. Fever is absent, and in contrast to infectious sinusitis, nasal discharge is never purulent, there is no halitosis, and daytime cough is not prominent. Patients may complain of itching of the nose and eyes, and some have frequent sneezing. On examination, the nasal mucosa is edematous but does not appear erythematous. Discharge, if present, is clear. Patients also tend to have the typical allergic facies (see Chapter 4) with Dennie lines, allergic shiners, and cobblestoning of the conjunctivae. Environmental control and antihistamines provide symptomatic relief for most of these children. Vacuum Headache The second potentially confusing clinical picture is that of the allergic sinus headache, or vacuum headache. In this condition, older atopic individuals complain of intense facial or frontal headache, without fever or other evidence of infection. This occurs during periods in which patients are having

exacerbation of allergic symptoms, after swimming in chlorinated pools, or while flying on an airplane. The phenomenon appears to be caused by acute blockage of sinus ostia by mucosal edema, with subsequent creation of a vacuum within the sinus as a result of resorption of sinus gases by mucosa. The resultant negative pressure pulls the mucosa away from the walls of the sinus, producing the pain. In these patients the nasal mucosa tends to be pale and swollen but without discharge. Sinuses may be tender to percussion but are clear radiographically. Symptoms respond promptly to application of a topical vasoconstrictor and warm compresses over the face. Improvement is maintained by antihistamines and decongestants.

OROPHARYNGEAL DISORDERS Oropharyngeal Examination Adequate examination of the pharynx is important in pediatrics because of the frequency of pharyngeal infections. However, the procedure can be challenging at times. The small size of the mouth and difficulty in depressing the tongue in infancy; lack of cooperativeness in toddlers; and the fear of causing older children to gag when using tongue blades can impede efforts. These problems can be minimized by a few simple techniques. Infants and young children, when placed supine with the head hyperextended on the neck, tend to open their mouths spontaneously, enabling visualization of the anterior oral cavity and assisting insertion of a tongue blade to depress the tongue and inspect the posterior palate and pharynx. When examining older children, asking them to open their mouths as wide as possible and pant “like a puppy dog” or say “ha ha” usually results in lowering of the posterior portion of the tongue, revealing the posterior palatal and pharyngeal structures. Because conditions involving the lips, mucosa, and dentition are presented in Chapter 20, this section concentrates on palatal and pharyngeal disorders.

Palatal Disorders Palatal malformations range widely in severity and can significantly affect feeding, swallowing, and speech. In addition, by altering normal nasal and oropharyngeal physiology, they place affected patients at increased risk for chronic recurrent ear and sinus infections. Cleft Palate Palatal clefts are among the most severe abnormalities encountered. They stem from a failure of fusion during the second month of gestation and have an incidence of about 1 in every

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Figure 23-63  Cleft palate. This child has a midline cleft of the soft palate. The hard palate, alveolar ridge, and lip are spared. (Courtesy Ms. Barbara Elster, Cleft Palate Center, Pittsburgh, Pa.)

Figure 23-62  Pierre Robin sequence, characterized by severe retromicrognathia and cleft palate. In this infant the micrognathia produced posterior displacement of the tongue, resulting in airway obstruction that necessitated a tracheotomy. (Courtesy Wolfgang Loskin, MD, University of North Carolina, Chapel Hill, N.C.)

2000 to 2500 births. They are usually but not always associated with a cleft lip. The defect is often isolated in an otherwise normal child. In many cases there is a positive family history for the anomaly. A number of teratogens have also been linked to the malformation. In a small percentage of cases the cleft palate is one of multiple congenital anomalies in the context of a major genetic syndrome such as the Pierre Robin sequence (Fig. 23-62) and trisomies 13 and 18 (see Chapter 1). The extent of the cleft varies: Some involve only the soft palate (Fig. 23-63); others extend through the hard palate but spare the alveolar ridge (Fig. 23-64, A). Still others are complete (Fig. 23-64, B and C). The defect may be unilateral or bilateral. The four major types of congenital cleft palate are as follows: Type I: Soft palate only (see Fig. 23-63) Type II: Unilateral cleft of soft and hard palate (see Fig. 23-64, A) Type III: Unilateral cleft of soft and hard palate, extending through the alveolar ridge (see Fig. 23-64, B) Type IV: Bilateral cleft of soft and hard palate, extending through the alveolar ridge (see Fig. 23-64, C)

A

B

These anomalies create a number of problems beyond the obvious cosmetic deformity. In infancy, a cleft palate prevents the child from creating an effective seal when nursing and hampers feeding. In addition, formula tends to reflux into the nasopharynx with resultant choking. This necessitates patience during feeding, use of palatal obturators or specially designed nipples or feeding devices, and careful training of parents in feeding techniques that facilitate nursing and prevent failure to thrive. Eustachian tube function is uniformly abnormal, and before palate repair, all patients have chronic middle ear effusions that are frequently infected. Even after repair, recurrent middle ear disease (characterized by negative pressure and effusions, and possibly cholesteatomas) remains a problem. Hearing loss, with its potential for hampering language acquisition, ultimately occurs in more than 50% of patients. Despite corrective surgery, palatal function is never totally normal, and many patients continue to have hypernasal speech and difficulties in articulation, necessitating long-term speech therapy. Secondary dental and orthodontic problems are routine as well. The multitude of problems and the need for frequent medical visits and multiple operations, in combination with the often-associated cosmetic deformity, can have a significant psychological impact on the child and family. Optimal management necessitates a multidisciplinary team, preferably coordinated by a primary care physician who is aware of the patient’s individual needs and those of his or her family.

C

Figure 23-64  Cleft palate. A, Cleft of the hard and soft palate, sparing the alveolar ridge. Complete clefts of the palate, alveolar ridge, and lip may be unilateral (B) or bilateral (C). (A and C, Courtesy William Garrett, MD; B, courtesy Michael Sherlock, MD, Lutherville, Md.)

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Figure 23-65  Submucous cleft of the palate. A, This girl shows failure of normal midline fusion of the palatal muscles, resulting in midline thinning of the soft palate. Palpation confirms the area of weakness. A U-shaped notch can also be felt in the midline at the junction of the hard and soft palate. She also has a bifid uvula. B, This child was found to have a notched uvula on pharyngeal examination. This may serve as a clue to the presence of a submucous palatal cleft, or it may be an isolated anomaly.

Timing of corrective surgery remains somewhat controversial. Cleft lips are repaired at about 3 months, but scheduling of palatal repair must be individualized depending on the size and extent of the cleft. Defects of the soft palate are generally repaired at about 8 months, and the hard palate is closed either surgically or by use of a prosthetic plate. Most patients also require early myringotomy with insertion of tubes at the time of lip repair to help manage the chronic middle ear disease. Adenoidectomy is contraindicated because of adverse effects on palatal function, unless airway obstruction is severe and resistant to antimicrobial therapy. Upper (partial) adenoidectomy may be required in selected patients with severe airway obstruction. Another disorder of clinical importance, submucous cleft of the palate, is often overlooked in infancy. The condition is characterized by a bony U-shaped notch, palpable in the midline, at the juncture of the hard and soft portions of the palate (Fig. 23-65, A). There also may be palpable midline thinning of the soft palate. The anomaly results from a failure of the tensor veli palatini muscle to insert properly in the midline. Some children have an associated double or notched (bifid) uvula that, when present, serves as a clue to the existence of the palatal abnormality (Fig. 23-65, A and B). The bifid uvula may be an isolated asymptomatic anomaly, however. Although not subject to the feeding difficulties seen in children with overt clefts, children with submucous clefts have similar problems with eustachian tube dysfunction and chronic middle ear disease. Speech is often mildly hypernasal, because the soft palate is of inadequate length or cannot elevate sufficiently to separate the nasopharynx from the oropharynx. Problems therefore occur with the sounds of “f,” “b,” and “p.” Recognition is particularly important when considering tonsillectomy and adenoidectomy for recurrent tonsillitis and otitis because surgical removal of the adenoids in these children can result in severe speech and swallowing dysfunction; hence these procedures may be contraindicated. In selected cases of severe adenoidal hypertrophy or severe adenotonsillitis, upper (partial) adenoidectomy may be an option. High-arched Palate High-arched palate, a minor anomaly, is a common clinical finding (Fig. 23-66). Although usually an isolated variant of palatal configuration, it occasionally occurs in association with congenital syndromes. Long-term orotracheal intubation of premature infants creates an iatrogenic form of the problem. Although generally clinically insignificant, the high arch can be associated with increased frequency of ear and sinus infections and hyponasal speech in severe cases.

Tonsillar and Peritonsillar Disorders Tonsillitis/Pharyngitis As noted earlier, the tonsils and adenoids are quite small in infancy, gradually enlarge over the first 8 to 10 years of life, and then start to regress in size. When evaluating the tonsils, particularly during the course of an acute infection, or when monitoring patients for chronic enlargement, it is helpful to use a standardized size-grading system, as shown in Figure 23-67. Inspection of the palate is also important in assessing patients with tonsillopharyngitis because lesions characteristic of particular pathogens are often present on the soft palate and tonsillar pillars (see Chapter 12). The tonsils appear to serve as a first line of immunologic defense against respiratory pathogens and are frequently infected by viral and bacterial agents. The most commonly identified organisms are group A β-hemolytic streptococci, adenoviruses, coxsackieviruses, and the Epstein-Barr (EB) virus. There is a wide range of severity in symptoms and signs, regardless of the pathogenic organism. Sore throat is the major symptom, and it may be mild, moderate, or severe. When severe, it is typically associated with dysphagia. Erythema is the most common physical finding and varies from slightly to intensely red (Fig. 23-68). Additional findings may include acute tonsillar enlargement, formation of exudates over the tonsillar surfaces, and cervical adenopathy. In a small percentage of cases the findings suggest a given pathogen. Patients with fever, headache, bright red and enlarged tonsils (with or without exudate), palatal petechiae (Fig. 23-68, B), tender and

Figure 23-66  High-arched palate. This is a common minor anomaly, usually isolated, but occasionally associated with genetic syndromes.

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1

2

3

4

Figure 23-67  Grading of tonsillar size for children with acute tonsillopharyngitis and those with chronic tonsillar enlargement. This grading system is particularly useful in serial examinations of a given patient. (Modified from Feinstein AR, Levitt M: Role of tonsils, N Engl J Med 282:285-291, 1970. Copyright © 1970 Massachusetts Medical Society. All rights reserved.)

enlarged anterior cervical nodes, and perhaps abdominal pain are likely to have streptococcal infection. Patients with marked malaise, fever, exudative tonsillitis, generalized adenopathy, and splenomegaly are probably suffering from Epstein-Barr virus mononucleosis (Fig. 23-68, C; and see Chapter 12). Those with conjunctivitis, nonexudative tonsillar inflammation, and cervical adenopathy may have adenovirus. Yellow ulcerations with red halos on the tonsillar pillars strongly suggest coxsackievirus infection, whether or not other oral, palmar, or plantar lesions are present (see Chapter 12). Unfortunately, the majority of patients with tonsillopharyngitis do not have such clearcut clinical syndromes. Patients with streptococcal infection may have only minimal erythema; in its early stages, mononucleosis may consist of fever, malaise, and nonexudative pharyngitis without other signs; and although streptococci and EB virus are the most common sources of exudative tonsillitis and palatal petechiae, other pathogens produce these findings as well. Because of the variability in the clinical picture and the importance of identifying and treating group A β-hemolytic

A

B

streptococcal infection to prevent both pyogenic (e.g., cervical adenitis, peritonsillar, retropharyngeal, and parapharyngeal abscesses) and nonpyogenic (e.g., rheumatic fever) complications, a screening throat culture is advisable for patients with even mild signs or symptoms of tonsillopharyngitis. In obtaining this culture, the clinician swabs both tonsils and the posterior pharyngeal wall to maximize the chance of obtaining the organism. In the first 3 years of life, when streptococcal infection is suspected (because of history of exposure, signs of pharyngitis, or scarlatiniform rash), it is helpful to obtain a nasopharyngeal culture as well. For reasons as yet unclear, the nasopharyngeal culture is often positive when the throat culture is negative in this age group. Treatment is symptomatic for all forms of tonsillopharyngitis except that caused by group A β-hemolytic streptococci, which requires a 10-day course of penicillin, amoxicillin, or erythromycin. As the secondary attack rate of group A β-hemolytic streptococci within families is 50%, parents should be instructed to notify the physician if other family members develop symptoms of upper respiratory or pharyngeal infection within the ensuing few weeks. If so, they can then be examined and specimens obtained for culture, or they can be treated empirically. Follow-up is also important. As noted earlier, the tonsillitis of mononucleosis may appear mild early in the course of the illness, yet tonsillar inflammation and enlargement may progress over a few to several days to produce severe dysphagia and even airway obstruction. Thus parents should be instructed to notify the physician if such signs develop. Follow-up is also important in monitoring for other complications and for frequent recurrences. Recurrent Tonsillitis Frequent recurrences of tonsillitis, despite antibiotic therapy when indicated, must be handled on an individual basis. In some cases frequent recurrences of streptococcal infection can be traced to other family members. When they are treated along with the patient, the cycle of recurrences often ends. In other instances frequent recurrent tonsillar infections have no traceable source within the family, and they are significantly debilitating. In children with six or more episodes in any one year, five episodes per year for two consecutive years, or three episodes per year for three consecutive years, tonsillectomy has a favorable outcome in reducing both frequency and severity of sore throats. Tonsillar hypertrophy with obstructive sleep apnea is also an indication for tonsillectomy. Uvulitis Uvulitis is characterized by inflammation and edema of the uvula. In addition to throat pain and dysphagia, affected patients commonly complain of a sense of having “something in their throat” or a gagging sensation. The phenomenon has

C

Figure 23-68  Tonsillopharyngitis. This common entity has a number of causative pathogens and a wide spectrum of severity. A, The diffuse tonsillar and pharyngeal erythema seen here is a nonspecific finding that can be produced by a variety of pathogens. B, This intense erythema, seen in association with acute tonsillar enlargement and palatal petechiae, is highly suggestive of group A β-streptococcal infection, although other pathogens can produce these findings. C, This picture of exudative tonsillitis is most commonly seen with either group A streptococcal or Epstein-Barr virus infection. (B, Courtesy Michael Sherlock, MD, Lutherville, Md.)

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A

B

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Figure 23-69  Uvulitis. A, The uvula appears markedly erythematous and edematous, with pinpoint hemorrhages, in this case caused by β-streptococci. B, In this child with mononucleosis the tonsils are enlarged and covered with a gray membrane, and the uvula is edematous and erythematous. The patient had respiratory compromise because of the severity of his tonsillar and adenoidal hypertrophy. C, The vesicular lesions on the swollen, painful uvula of this patient suggest a viral etiology, probably involving an enterovirus.

been reported in association with pharyngitis caused by group A β-hemolytic streptococci, in which cases the uvula is bright red and often hemorrhagic (Fig. 23-69, A). The condition has also been noted in association with mononucleosis, both in the presence and the absence of exudative tonsillitis (Fig. 23-69, B), and with other viral agents as well (Fig. 23-69, C). Uvulitis has also been reported in a patient with concurrent epiglottitis. In this case the child was anxious, toxic, febrile, and drooling, with a more severe clinical picture than that seen with streptococcal or EB virus infection. Culture of the uvular surface grew H. influenzae type B. Peritonsillar Abscess or Cellulitis A peritonsillar abscess is one that forms between the tonsil and constrictor muscle and extends into the soft palate. Patients are usually school age or older, and they typically have a history of having developed an antecedent sore throat a week or two earlier, which was not cultured or treated, or for which the child was given an incomplete course of antimicrobial therapy. The patient may experience initial improvement but then has a sudden onset of high fever and severe throat pain, which is worse on one side. The pain usually radiates to the ipsilateral ear and is associated with marked dysphagia, such that the patient spits out saliva to avoid swallowing. On examination, the child often appears toxic and has obvious enlargement of the ipsilateral tonsillar lymph node, which is exquisitely tender. Many patients have torticollis, tilting the head toward the involved side to minimize pressure of the sternocleidomastoid muscle on the adjacent tonsillar lymph node (Fig. 23-70A). Speech is thick and muffled because

A

B

of splinting of the tongue and pharyngeal muscles. Trismus, or limitation of mouth opening, is often noted as a result of inflammation of the internal pterygoid muscles (Fig. 23-70, B). If visualization of the pharynx is possible (despite the trismus), a bright red, smooth bulge is seen in the supratonsillar area projecting forward and medially, obscuring the tonsil, and deviating the uvula to the opposite side (Fig. 23-70, C). Group A β-hemolytic streptococci and S. aureus are the most common pathogens. Mixed infections with gram-positive and gramnegative aerobic, as well as anaerobic, pathogens are common. Patients with mononucleosis, concurrently infected with group A streptococci and treated with steroids, are reportedly at risk for developing a rapidly evolving peritonsillar abscess and complications. On the basis of the age and level of cooperation from the child, the otolaryngologist may drain peritonsillar abscesses transorally in the office. If examination and cooperation are limited, the abscess may require incision and drainage in the operating room. Tonsillar Lymphoma The majority of children, whether well or acutely ill with tonsillitis, have tonsils that are symmetrical in size. When a child has an asymmetrically enlarged tonsil without evidence of infection, the possibility of a lymphoma should be considered (Fig. 23-71). Thorough history of recent health status and meticulous regional and general examination are in order. Particular attention should be paid to cervical and other nodes and to the size and consistency of abdominal viscera. Hematologic studies may also be helpful. In the absence of other

C

Figure 23-70  Peritonsillar abscess. A, This patient demonstrates the torticollis often seen with a peritonsillar abscess in an effort to minimize pressure on the adjacent inflamed tonsillar node. B, Sympathetic inflammation of the pterygoid muscles causes trismus, limiting the patient’s ability to open the mouth. C, This photograph, taken in the operating room, shows an intensely inflamed soft palatal mass that obscures the tonsil and bulges forward and toward the midline, deviating the uvula.

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Figure 23-71  Tonsillar lymphoma. This adolescent had painless dysphagia. Examination revealed marked unilateral tonsillar enlargement. The asymmetry and degree of enlargement prompted tonsillectomy. Pathologic examination confirmed a tonsillar lymphoma.

evidence, a brief period of observation may be justified. If other findings are suggestive or enlargement continues during observation, excisional biopsy is indicated.

Penetrating Oropharyngeal Trauma Penetrating oral injuries are fairly common in childhood and are usually the result of falling with a stick, pencil, straw, or lollipop in the mouth. Gunshot wounds and external stab wounds are unusual occurrences in the pediatric population, but their incidence begins to increase in adolescents. Prophylactic antimicrobial therapy is indicated for all penetrating injuries because of the high risk of secondary infection. The majority of intraoral injuries involve the palate and consist of simple lacerations. Many of these injuries heal spontaneously and require no repair. Large lacerations producing excessive bleeding or mucosal flaps must be sutured (Fig. 23-72). Penetration of the posterior pharyngeal wall may result in a number of complications. These patients merit careful clinical evaluation of the oropharynx and neck; neck radiographs

Figure 23-72  Palatal laceration. This large, complex laceration occurred when this boy fell with a piece of metal tubing in his mouth. A flap of palatal tissue has retracted away from the tear, warranting surgical approximation.

Figure 23-73  Retropharyngeal air dissection. This lateral neck radiograph of a child with a puncture wound of the posterior pharyngeal wall reveals extensive air dissection through the retropharyngeal soft tissues. Subcutaneous air has tracked anteriorly as well.

should also be obtained. Whenever an object penetrates the pharyngeal wall, it introduces oral flora into the retropharyngeal soft tissues, setting the stage for development of infection and abscess formation (see Retropharyngeal Abscess, later; and Fig. 23-75). This complication is seen predominantly in patients who fail to seek care immediately after the injury. However, it can develop even in treated patients. Symptoms generally begin a few to several days after the initial trauma. Fever, pain, dysphagia, and signs of airway compromise predominate. In a number of patients with posterior pharyngeal tears, penetration results in dissection of air through the retropharyngeal soft tissues (Fig. 23-73). Such children may complain of throat and neck pain. Subcutaneous emphysema may be noted clinically. On occasion, signs of airway compromise develop with this complication. Therefore hospitalization for observation is advisable when this sequela is encountered. Serial plain radiographs should document resolution of subcutaneous emphysema before discharge. When penetration involves posterolateral structures (e.g., the tear is located near the tonsil or tonsillar pillar), the possibility of vascular injury must be considered. Deep penetration in this area can puncture or nick the internal carotid artery or nearby vessels, resulting in hemorrhage or, more commonly, gradual hematoma formation. Clues to vascular injury are lateral pharyngeal or peritonsillar swelling and fullness or tenderness on palpation of the neck on the side of the wound. Radiographs should confirm soft tissue swelling. Patients with peritonsillar tears should be admitted for observation even in the absence of these signs. Findings that suggest vascular involvement warrant magnetic resonance or CT angiography or, more rarely, formal angiography. Thrombosis and embolic stroke are possible.

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UPPER AIRWAY OBSTRUCTION

Table 23-3

Acute Upper Airway Obstruction

Clinical Finding Mild

Moderate

Severe

Color

Normal

Normal

Retractions

Absent to mild

Moderate

Pale, dusky, or cyanotic Severe and generalized with use of accessory muscles ↓ (severe) Lethargic, depressed

Few conditions in pediatrics are as urgent and potentially lifethreatening as those causing acute upper airway obstruction. In these conditions, expeditious assessment and appropriate stabilization are often life-saving. In contrast, underestimation of the severity of distress, overzealous attempts at examination or invasive procedures, and efforts by the unskilled to intervene may have catastrophic results. The major causes are severe tonsillitis with adenoidal enlargement (see Tonsillar and Peritonsillar Disorders, earlier; and Fig. 23-69, B), retropharyngeal abscess, epiglottitis, croup or laryngotracheobronchitis, foreign body aspiration, and angioedema (see Chapter 4). All are characterized by stridor, retractions that are primarily suprasternal and subcostal (unless distress becomes severe and retractions generalize), and mild to moderate increases in heart and respiratory rates. For purposes of assessment, it is helpful to classify the disorders into two categories—supraglottic and subglottic—on the basis of major signs and symptoms listed in Table 23-2. The key to appropriate management is a brief history detailing the course and associated symptoms, followed by rapid assessment of clinical signs to determine the approximate level of airway involvement and the degree of respiratory distress (Table 23-3). This can be done for the most part through visual inspection, without ever touching the patient. It is particularly important to avoid upsetting a child with upper airway obstruction who shows signs of fatigue or cyanosis or meets any of the other criteria for severe respiratory distress. Such disturbances can serve only to worsen distress and may precipitate complete obstruction. Therefore when a child has signs of moderately severe or severe obstruction, his or her parents should be allowed to remain with him or her; any positional preference (if manifested) should be honored; and oral examination, venipuncture, IV line placement, and radiographs should be deferred until the airway is secure. Once the initial assessment is done, the most skilled personnel available are assembled to stabilize the airway. This procedure is best accomplished under controlled conditions in the operating room, or if necessary in the emergency department. Supraglottic Disorders See also “Tonsillar and Peritonsillar Disorders,” earlier.

Table 23-2

Clinical Features of Acute Upper Airway Disorders

Clinical Finding

Supraglottic Disorders

Subglottic Disorders

Stridor Voice alteration Dysphagia Postural preference* Barky cough Fever Toxicity Trismus

Quiet and wet Muffled + + – + + + Usually with peritonsillar abscess –

Loud Hoarse – – + Especially with croup + Usually with croup – –

Facial edema

+ Usually with angioedema

*Epiglottitis—patient characteristically sits bolt upright, with neck extended and head held forward; retropharyngeal abscess—child often adopts opisthotonic posture; peritonsillar abscess—patient may tilt head toward affected side. From Davis HW, Gartner JC, Galvis AG, et al: Acute upper airway obstruction: Croup and epiglottitis, Pediatr Clin North Am 28:859-880, 1981.

Estimation of Severity of Respiratory Distress

Air entry ↓ (mild) ↓ (moderate) Level of Normal or restless Anxious, restless consciousness when disturbed when undisturbed

↓, decreased. From Davis HW, Gartner JC, Galvis AG, et al: Acute upper airway obstruction: Croup and epiglottitis, Pediatr Clin North Am 28:859-880, 1981.

Retropharyngeal Abscess A retropharyngeal abscess usually involves one of the retropharyngeal lymph nodes that run in chains through the retropharyngeal tissues on either side of the midline. Because these nodes tend to atrophy after 4 years of age, the disorder is seen primarily in children younger than 3 or 4 years old. The major causative organisms are group A β-hemolytic streptococci, although S. aureus is found in some cases. Mixed infections with gram-positive and gram-negative aerobes, as well as anaerobes, are common as well. The child with a retropharyngeal abscess generally has a history of an acute, febrile upper respiratory tract infection or pharyngitis beginning several days earlier, which may have improved transiently. Suddenly, the child’s condition worsens with development of a high spiking fever, toxicity, anorexia, drooling, and dyspnea. On examination, the patient is irritable and tends to lie with the head in a neutral position, as neck movement exacerbates neck tenderness. Quiet gurgling and stertor are often heard. If respiratory distress is not severe, the pharynx can be examined, and asymmetrical swelling of the posterior pharyngeal wall may be observed pushing the uvula and ipsilateral tonsil forward (Fig. 23-74, A). Even with direct examination, this swelling can be difficult to appreciate at times. A portable lateral neck radiograph taken on inspiration and with the neck in extension (with a physician in attendance) shows marked widening of the prevertebral soft tissues (Fig. 23-74, B), which are normally no wider than a vertebral body. It should be noted that false-positive radiographic findings of prevertebral soft tissue swelling, in the absence of retropharyngeal pathologic findings, are common when lateral neck radiographs are not taken on inspiration and with the neck extended. When a retropharyngeal abscess is diagnosed, prompt otolaryngologic consultation should be sought to determine whether the mass is fluctuant, necessitating surgical drainage, or if it is in an early cellulitic phase, requiring serial re-examination. A CT scan can be helpful in this regard (Fig. 23-74, C). High-dose parenteral antimicrobial therapy is necessary whether or not drainage is required. As noted earlier, a retropharyngeal abscess may occasionally form in an older child after a puncture wound of the posterior pharyngeal wall (Fig. 23-75). Signs of infection develop acutely a few days later. In these cases oral flora are found on culture. Parapharyngeal Abscess Lateral neck space abscesses can also occur in infants and young children. Most patients are toxic with high spiking fevers. The history and clinical picture are nearly identical to those of children with retropharyngeal abscess. However,

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B

C

Abscess

Thick-walled abscess cavity

Airway

Figure 23-74  Retropharyngeal abscess. A young child presented with high fever, drooling, quiet stridor, and an opisthotonic postural preference. A, Pharyngeal examination in the operating room revealed an intensely erythematous, unilateral swelling of the posterior pharyngeal wall. B, A lateral neck radiograph shows prominent prevertebral soft tissue swelling that displaces the trachea forward. C, On CT scan, a thick-walled abscess cavity is evident in the retropharyngeal space. The highly vascular wall enhanced with contrast injection.

these patients have torticollis, bending toward the affected side, and examination of the neck reveals diffuse anterolateral swelling that is exquisitely tender (Fig. 23-76, A). Oral inspection may reveal medial displacement of the tonsil or lateral pharyngeal wall. A CT scan is essential to confirm the diagnosis (Fig. 23-76, B). Parapharyngeal cellulitis is treated with IV antimicrobials. Abscesses are treated by prompt drainage to prevent rupture with aspiration of purulent material, erosion into vascular structures, and extension to adjacent sites or into the mediastinum.

Figure 23-75  Retropharyngeal abscess after a puncture wound. This child tried to swallow a tack that punctured and became lodged in the posterior pharyngeal wall. The incident was unwitnessed, and he came to medical attention only when he developed fever and began drooling. (Courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

Epiglottitis (Supraglottitis) Epiglottitis, a now uncommon but life-threatening form of acute upper airway obstruction, is an infection caused most often by H. influenzae type B. Its incidence has dropped precipitously since introduction of the H. influenzae B vaccine. Hence many younger practitioners have never seen a case, increasing the risk of delayed diagnosis. Epiglottitis is characterized by marked inflammation and edema of the pharynx, epiglottis, aryepiglottic folds, and ventricular bands. The peak age range is 1 to 7 years, but infants and older children may be affected. Onset is sudden and progression rapid; most patients are brought to medical attention within 12 hours of the first appearance of symptoms. In general, the child is entirely well until several hours before presentation, when he or she abruptly spikes a high fever. This is rapidly followed by progressive quiet stridor, severe throat pain with dysphagia and drooling, and soon thereafter by dyspnea and anxiety. On examination, the child is usually toxic, anxious, and remarkably still, sitting bolt upright with neck extended and head held forward (unless obstruction is mild or fatigue has supervened) (Fig. 23-77, A-C). Quiet gurgling, stridor, and

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Figure 23-76  Parapharyngeal abscess. A, This infant had high fever, toxicity, and marked, exquisitely tender anterolateral neck swelling with overlying erythema. These manifestations followed a week of upper respiratory tract symptoms and decreased feeding. B, His CT scan reveals an encapsulated abscess in the right parapharyngeal area.

A

drooling are evident, along with dyspnea and retractions. If the child will talk, which is unusual, the voice is muffled. This clinical picture is so typical that, when seen, the best course of action after initial assessment is prompt airway stabilization, usually intubation under controlled conditions by experienced personnel in the operating room. At this time the epiglottis/supraglottis is found to be markedly swollen and erythematous (Fig. 23-77, D and E). After airway stabilization, cultures can be obtained and parenteral antimicrobial therapy initiated. Obtaining a radiograph or repeating oral physical examinations before transfer to the operating room is contraindicated; it adds nothing and may precipitate total airway obstruction.

A

B

C

D

B

On occasion, children present with a similar history but milder symptoms and signs. In these cases, presentation is early or the child is older than average. Respiratory distress is minimal, and visualization of the pharynx can be attempted (without use of a tongue blade) if the child will voluntarily open his or her mouth. In some instances a swollen epiglottis is seen projecting above the tongue. When the history suggests epiglottitis/supraglottitis but clinical findings are mild and the diagnosis is not confirmed by attempted noninvasive visualization, a portable lateral neck x-ray examination (done in the emergency department with a physician in attendance) can be useful. It may reveal mild epiglottic enlargement (“thumbprint sign”; Fig. 23-78) or merely swelling of the aryepiglottic folds

E

Figure 23-77  Epiglottitis. A-C, These three patients with acute epiglottitis demonstrate the varying degrees of distress that may be seen, depending on age and time of presentation. A, This 3-year-old seen a few hours after onset of symptoms was anxious and still but had no positional preference or drooling. B, This 5-year-old, who had been symptomatic for several hours, holds his neck extended with head held forward, is mouth breathing and drooling, and shows signs of tiring. C, This 2-year-old was in severe distress and was too exhausted to hold his head up. D and E, In the operating room the epiglottis can be visualized and appears intensely red and swollen. It may retain its omega shape or resemble a cherry.

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Figure 23-78  Mild epiglottitis or supraglottitis. This lateral neck radiograph demonstrates mild epiglottic swelling and thickening of the aryepiglottic folds.

and ventricular bands. If either is found, the diagnosis is confirmed. Hypopharyngeal dilatation may also be seen. Intubation is generally advisable in the former instance despite mild symptoms, but close observation in the intensive care unit on intravenous antibiotic therapy (covering for H. influenzae type B) may suffice when mild supraglottitis is the only finding. Subglottic Disorders Croup or Laryngotracheobronchitis Croup, an acute respiratory illness, is characterized by inflammation and edema of the pharynx and upper airways, with maximal narrowing in the immediate subglottic region. There is probably a component of laryngospasm as well. The majority of cases are caused by viral pathogens, with parainfluenza, respiratory syncytial virus, adenoviruses, influenza viruses, and echoviruses being the agents most commonly identified. The peak season is between October and April in the northern hemisphere. The disorder primarily affects children between the ages of 6 months and 3 years. This is probably because their airways are narrower, and the mucosa is both more vascular and more loosely attached than in older children, enabling greater ease of edema collection. Older children can be affected, however. Typically the child has had symptoms of a mild upper respiratory tract infection with rhinorrhea, cough, low-grade fever, and perhaps a sore throat for 1 to 5 days before developing symptoms of croup. The change is generally sudden and usually occurs at night or during a nap. The child awakens with fever, loud inspiratory stridor, a loud “barky” or “seallike” cough, and hoarseness. The severity of symptoms and the course vary widely and are highly unpredictable. Duration averages 3 days but can be as brief as 1 day or as long as 1 week. Most patients have a waxing and waning course, with symptoms more severe at night, but it is impossible to predict which night will be the worst. Some patients remain relatively mildly affected throughout the course, whereas others progress either slowly or rapidly to severe distress. Airway drying, probably in part as a result of mouth breathing necessitated by nasal congestion (especially while sleeping), appears to aggravate the cough and possibly the element of laryngospasm. Physical findings are highly variable, depending on degree of distress at the time of presentation. Most affected children are moderately febrile but not toxic and have a loud barky

cough and loud inspiratory stridor, with suprasternal and subcostal retractions (Fig. 23-79) and a mild decrease in air entry. A small percentage of patients with more extensive airway inflammation may have wheezing on auscultation. Distinguishing the stridor of croup from the wheezing of asthma is most important. Many patients improve substantially as a result of exposure to cool night air during the trip to the emergency department. Some have restlessness or agitation reflecting hypoxia, and a few have severe distress. In these more severely affected patients, stridor may be both inspiratory and expiratory, with generalized retractions. If impairment of airflow is extreme, fatigue supervenes, stridor abates, and retractions diminish. This must not be mistaken for clinical improvement. A clinical scoring system that helps in grading severity of distress is presented in Table 23-4. In mild to moderate cases the pharynx can be visualized and reveals only mild erythema. Oral examination should be deferred in severe cases until the airway is secure. Radiography can be helpful in demonstrating subglottic narrowing—the “steeple sign” (Fig. 23-80, A). However, this is not necessary for patients with mild disease, and it is contraindicated for those with severe distress. Gastroesophageal reflux disease is commonly associated with recurrent croup. Thus, management with medication; a low-fat, low-acid, low-spice diet; and avoidance of overeating and excessive drinking can be helpful. Management depends largely on severity of distress when the child is seen and on clinical response to mist therapy. Most patients have mild disease, improve considerably on mist alone, and can be managed at home with humidification. Parents must, however, be instructed to watch for signs of increasing distress, which would warrant return to the hospital. Aerosolized racemic epinephrine is effective in reducing airway obstruction caused by croup. It is particularly useful for children with moderate obstruction who do not show marked improvement on mist alone, and it can provide significant relief for children with severe distress. This agent, although effective, is short-acting, and rebound airway edema tends to occur. Thus patients requiring racemic epinephrine should generally be admitted for further observation.

Figure 23-79  Croup. This toddler with moderate upper airway obstruction caused by croup had suprasternal and subcostal retractions. Her anxious expression was the result of mild hypoxia confirmed by pulse oximetry.

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Table 23-4

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Croup Scoring System

Clinical Finding

0

1

2

3

Stridor

None

Mild

Retractions Air entry Color Level of consciousness

None Normal Normal Normal

Mild Mild decrease Normal (0 score) Restless when disturbed

Moderate inspiratory at rest Moderate Moderate decrease Normal (0 score) Anxious, agitated when undisturbed

Severe, on inspiration and expiration, or none with markedly decreased air entry Severe, marked use of accessory muscles Marked decrease Dusky or cyanotic Lethargic, depressed

Modified from Taussig LM, Castro O, Beaudry PH, et al: Treatment of laryngotracheobronchitis (croup): Use of intermittent positive-pressure breathing and racemic epinephrine, Am J Dis Child 129:790-793, 1975.

Administration of intramuscular dexamethasone (sometimes followed by a 2- to 3-day course of oral prednisone) appears to reduce the severity of symptoms and thus the need for hospitalization. Patients in severe distress who do not improve dramatically after treatment with racemic epinephrine, as well as those who steadily worsen in the hospital despite mist and aerosol treatments, merit airway endoscopy and stabilization, via intubation or tracheotomy under controlled conditions in the operating room. The choice of procedure remains controversial and is perhaps best made in accordance with the skills of the personnel and facilities available at the individual institution. In some instances, subglottic narrowing is so severe as to necessitate tracheotomy (Fig. 23-80, B). Attempts at emergency tracheotomy in the emergency department are fraught with hazard and should be avoided at all costs. Bacterial Tracheitis In a small percentage of cases, children with a crouplike picture are atypically toxic, markedly febrile, and have rapidly progressive airway obstruction necessitating urgent intubation and occasionally tracheotomy. Bronchoscopy before airway stabilization reveals severe inflammation; edema; and a

copious, purulent subglottic exudate that contains large numbers of bacteria. Most of these patients appear to have a history of viral croup with sudden worsening. It is thus thought that the disorder may represent secondary bacterial infection, and staphylococci including methicillin-resistant strains are often isolated. Foreign Body Aspiration Foreign body aspiration is seen for the most part in older infants and toddlers. The story is usually one of a sudden choking episode while the child was eating material that the immature dentition is ill equipped to chew. Such foods include nuts, seeds, popcorn, raw vegetables such as carrots and celery, and hot dogs. On occasion, the episode occurs when the child is chewing on a small object, a toy, or a detachable portion of a toy. If the object lodges in the larynx, asphyxiation results unless the Heimlich maneuver or back blows are performed promptly. In the majority of cases the foreign material clears the larynx and lodges in the trachea or a bronchus (more commonly, the right mainstem because of its more vertical orientation). After the choking spell, there is a silent period usually lasting up to several hours (occasionally days or weeks), after which the child develops cough, stridor (if

Figure 23-80  Croup. A, This radiograph reveals a long area of narrowing extending well below the normally narrowed area at the level of the vocal cords. The finding is often termed the steeple sign. B, In this patient, direct visualization revealed subglottic narrowing so severe that only tracheotomy would enable establishment of an adequate airway. (A, Courtesy Sylvan Stool, MD.)

A

B

Steeple sign Subglottic narrowing

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B

C

Figure 23-81  Foreign body aspiration. Radiopaque objects and those well outlined by air are readily visualized on radiographs. A, A piece of eggshell is seen in the subglottic portion of the trachea, clearly outlined by the air column. B, An earring lies in the entrance of the right mainstem bronchus. C, A screw is seen lodged in the right mainstem bronchus and projecting into the trachea. (A, Courtesy Mananda Bhende, MD, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.; B and C, courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

the object is lodged in the trachea) or wheezing (if it is lodged in a bronchus), and respiratory distress. In this acute phase, when the object is situated in a bronchus, wheezing may be unilateral and associated with decreased breath sounds. Later, diffuse wheezing may be heard, simulating asthma or bronchiolitis. Lateral neck and chest radiographs may reveal aspirated objects that are radiopaque or outlined by the air column (Fig. 23-81, A-C), enabling localization before endoscopy. However, most cases involve materials not visible on radiographs, although other radiographic clues may be present. Partial obstruction of a bronchus creates a ball-valve effect, allowing air in during inspiration but preventing its egress on expiration. This produces hyperinflation of one or more lobes of the lung on the same side as the foreign body (Fig. 23-82), which may be evident on the plain chest film. In subtler cases, chest fluoroscopy may highlight the differential inflation and

deflation, showing mediastinal shift away from the side of the foreign body on exhalation (Fig. 23-83). These findings are particularly likely if the patient is seen fairly soon after the aspiration episode. When there is a delay in seeking medical attention (usually because the aspiration episode was unwitnessed and onset of symptoms insidious), the patient may have cough and fever. In these instances, atelectasis and a mediastinal shift toward the side of the foreign body may be found on the chest radiograph (Fig. 23-84). This finding also may be seen acutely when the bronchus is totally obstructed. Many patients presenting acutely have no detectable radiographic abnormality after foreign body aspiration. Hence when clinical suspicion is high, given the history and physical findings, rigid endoscopic examination (with forceps for foreign body removal available) is indicated despite normal plain films. Conversely, when physical findings and x-ray films are normal and the history is questionable, a period of close observation may be indicated. Unfortunately, in up to 50% of cases, the aspiration episode is not reported because the parent does not relate it to the child’s symptoms or did not witness the choking spell. For this reason, this diagnosis should be considered and specific questions asked regarding possible aspiration whenever a young child has acute onset of cough and stridor, develops asymmetric breath sounds, or experiences a first episode of wheezing. Persistent cough or wheezing after a choking episode warrants endoscopic evaluation for possible foreign body removal. A missed retained foreign body may lead to total airway obstruction if the foreign body lodges in the larynx, or it may chronically obstruct a bronchus leading to lung abscess and the need for lobectomy.

Chronic Upper Airway Obstruction Figure 23-82  Foreign body aspiration with ipsilateral hyperinflation. This 18-monthold child was eating popcorn when he suddenly began choking. Within a few hours, he developed significant respiratory distress and his chest radiograph revealed massive hyperinflation of the right lung caused by the ball-valve effect of a piece of popcorn lodged in the right mainstem bronchus. (Courtesy Department of Radiology, Uniontown Hospital, Uniontown, Pa.)

Laryngeal Examination In children with a subacute or chronic airway disorder, a laryngeal examination is necessary to arrive at a definitive diagnosis. If a child is in distress or has acutely decompensated, this examination should be done in an operating room where rigid

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A

955

B

Figure 23-83  Foreign body aspiration, inspiratory and expiratory radiographs. A, This inspiratory film taken during fluoroscopy suggests hyperinflation of the right lower and middle lobes. B, This becomes much more evident on exhalation, when the hyperinflation persists and the mediastinum shifts to the opposite side. (Courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

ventilating bronchoscopes and an anesthesiologist are available as backup. When the child is not in significant distress and the airway has been stable, laryngoscopy can be performed by an otolaryngologist in the office or emergency department, using a flexible fiberoptic nasopharyngolaryngoscope (Fig. 23-85, A). These are now available in a range of diameters suitable for pediatric patients. Letting the older child handle the scope (with close supervision) and look through the lens assists cooperation. The child is then prepared by spraying the nasal mucosa with a decongestant and topical lidocaine. With careful preparation, most patients can be examined in the parent’s lap or an examination chair, but the toddler usually requires immobilization on a papoose board. The fiberoptic tube is then gently inserted into the nose and guided through past the palate (Fig. 23-85, B). If the child is exclusively mouth breathing, the soft palate may be apposed to the posterior pharyngeal wall. Asking the child to try to breathe through the nose a few times moves the palate forward, assisting passage. Anatomic abnormalities and dynamic motion of the supraglottic and glottic structures are easily seen with this device. Asking the child to phonate by saying the letter e enables observation of cord movement. In infants, cord movement is generally observed with crying. Although less well seen, the subglottic space can generally be viewed as well.

A

Subglottic Stenosis Subglottic stenosis is a disorder in which the subglottic region of the trachea is unusually narrow in the absence of infection. In some instances the stenosis is the result of abnormal cricoid development and is therefore congenital. In other cases narrowing is the long-term result of injury and scarring from prior intubation. Regardless of the source, these children tend to develop stridor and respiratory distress with each upper respiratory tract infection. A few are identified by virtue of having an atypically prolonged episode of croup. Some also have stridor with crying, even when well. Neck x-rays may present a similar appearance to that seen with croup (steeple sign; see Fig. 23-80, A). The problem generally improves with growth, but up to 40% of these children develop such severe distress with colds that tracheotomy and reconstruction are required. Figure 23-86, A shows laryngeal findings resulting from endotracheal tube trauma with formation of obstructing granulation tissue that later developed into severe glottic and subglottic stenosis requiring tracheotomy (Fig. 23-86, B). Figure 23-87 shows the endoscopic view of a child with a laryngeal laceration and fracture due to blunt neck trauma who required tracheotomy and later developed subglottic stenosis.

B

Figure 23-84  Foreign body aspiration—delayed presentation. A, With delay in presentation of partial obstruction or with complete obstruction of a bronchus, radiographic findings consist of atelectasis and a mediastinal shift toward the side of the foreign body. B, In this case a peanut was found completely obstructing the bronchus. (Courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

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Because the stridor is inspiratory, it does not represent true wheezing and bronchodilators should not be used. Clinically these infants tend to have mild inspiratory stridor that is worse when they are lying supine and tends to improve when they are placed in the prone position or when their necks are slightly hyperextended. The condition is usually benign and rarely interferes with feeding or respiration. The diagnosis can be confirmed only by visualization of the larynx during active respiration. This is important in that it is necessary to document that the stridor is not the result of a more dangerous condition. Once the examination has been completed, the parents can be reassured that the condition is usually benign and that with growth the stridor typically abates by the end of the first year and a half of life. Management consists of observation, with particularly close monitoring during upper respiratory tract infections. GERD often occurs concomitantly with laryngomalacia, and empirical treatment of GERD often results in reduction of stridor. The occasional infant with unusually severe obstruction must be managed surgically with supraglottoplasty. Even though a child has the classic presentation of laryngomalacia, other significant airway problems may mimic this disorder, and thus endoscopy in the office or operating room to confirm the diagnosis is always required. For example, Figure 23-89, A shows an endoscopic view of a vallecular cyst that displaced the epiglottis in a posterior direction, creating airway obstruction that mimicked laryngomalacia. Cyst excision was curative (Fig. 23-89, B).

A

Vocal Cord Paralysis Paralysis of the vocal cords may be present at birth, or it may develop in the first 2 months of life. It may be bilateral or unilateral. The underlying problem is generally located somewhere along the vagus nerve and may be found in the central nervous system or in the periphery. Even though many cases are idiopathic, a thorough evaluation must be done in an effort to locate the lesion and identify its source. Ten percent of chronic stridor cases in neonates are thought to be due to this condition. Infants with unilateral cord paralysis have stridor, hoarseness, and a weakened voice or cry. The airway diameter is generally adequate for respiration, and unless a secondary lesion is present, it is rarely necessary to perform a tracheo­ tomy. This problem is most often caused by a cardiac abnormality or cardiovascular surgery because the recurrent

B Figure 23-85  Fiberoptic laryngoscopy. A, The flexible fiberoptic laryngoscope. B, With careful preparation the patient can tolerate insertion of the flexible fiberoptic scope and the examination.

Laryngomalacia Laryngomalacia, a congenital condition, accounts for greater than 70% of cases of persistent inspiratory stridor in infants. The problem is the result of unusual flaccidity of the laryngeal structures, especially the epiglottis and the arytenoid cartilages. The etiology is uncertain, but it is thought to be caused by lack of neural coordination of the laryngeal muscles, with the result that supraglottic structures hang over the airway entrance like a set of loose sails over a sailboat (Fig. 23-88).

A

B

Figure 23-86  A, Glottic granulation tissue from prolonged intubation. B, Severe posterior glottic and subglottic stenosis. The granulation tissue and mucosal injury in (B) are organized into a severe scar with a pinhole airway necessitating chronic tracheotomy.

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957

underlying problem because each causes compression of the vagus nerves as they leave the brainstem. Neurosurgical intervention may correct the problem and allow eventual decannulation.

Figure 23-87  Laryngeal trauma. This child sustained a fracture of the thyroid cartilage from blunt neck trauma. This is the endoscopic view of the laceration to the right side of the right true vocal cord. This child required open repair and tracheotomy for airway stabilization.

laryngeal nerve is looped around these structures as it passes through the chest. In contrast, bilateral vocal cord paralysis is a life-threatening condition that presents with stridor and cyanosis because the vocal cords are unable to abduct on inspiration with consequent severe narrowing of the aperture between the cords (Fig. 23-90). As the problem is usually associated with a depressed laryngeal cough reflex, aspiration is common. A tracheotomy may be essential to secure the airway. Hydrocephalus or an Arnold-Chiari malformation is often the

Juvenile Laryngeal Papillomatosis Juvenile laryngeal papillomatosis is a condition in which multiple benign papillomas develop and grow on the vocal cords and supraglottic structures. In a few patients they may extend to involve the pharyngeal walls or tracheal mucosa. They are of viral (human papillomavirus) origin, and there is some evidence of transmission during delivery to children born to mothers with condylomata acuminata. The main symptom is hoarseness, but stridor may develop in children with large lesions or tracheal extension. Radiographs are usually normal. The diagnosis should be considered in patients with chronic hoarseness and in those with atypically prolonged croup. On laryngoscopy, irregular warty masses are seen (Fig. 23-91). Biopsy is required to confirm the diagnosis. Excision can be performed with forceps, a laser, or a powered microdebrider, but it is often followed by regrowth. Tracheotomy should be avoided if at all possible because this may promote seeding farther down the tracheobronchial tree. Vascular Compression of the Trachea Persistent expiratory wheezing or stridor that is unresponsive to bronchodilators may result from vascular compression of the trachea (Fig. 23-92) or tracheobronchomalacia. Symptoms are exacerbated by infections with increased respiratory requirements and increased secretions. Importantly, vascular compression of the trachea and tracheomalacia produce expiratory stridor. This is in sharp contrast to laryngomalacia, which produces inspiratory stridor.

Figure 23-88  Laryngomalacia. A, Note the omega shape of the epiglottis and the elongation of the arytenoid cartilages. B, This is the larynx during inspiration. Note that the forces of the inspired air lead to collapse of the laryngeal inlet. Infolding of the epiglottic surfaces and the arytenoid cartilages causes partial airway obstruction.

A

B

Figure 23-89  A, Vallecular cyst. Large mucous retention cyst in the vallecula, displacing the epiglottis in a posterior direction and leading to severe airway obstruction and stridor that mimicked laryngomalacia. B, Endoscopic excision of the superior cyst wall was curative.

A

B

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

Figure 23-90  Bilateral vocal cord paralysis. A, The marked narrowing of the aperture between the cords stems from loss of ability to abduct on inspiration. The voice may be normal in some cases because the vocal cords can adduct. This is in contrast to normal opening and closing on inspiration and expiration as seen in (B) and (C).

ESOPHAGEAL FOREIGN BODIES Ingestion of foreign objects is relatively common in older infants and toddlers, who are prone to putting almost anything they can pick up into their mouths. Coins, small toys, and pieces of toys are the objects most frequently found. Most traverse the esophagus, stomach, and intestines without incident and are of little concern. A small percentage of swallowed foreign bodies, being too large to pass through to the stomach, become lodged in the esophagus (usually at the level of the cricopharyngeus [C6] and less commonly at the level of the aorta [T4] or the diaphragmatic inlet [T11 to T12]). With mild obstruction, the child may refuse solid foods (although 17% of patients are asymptomatic); with moderate obstruction, liquids often are refused as well, or the child may appear to choke with drinking. When obstruction is nearly complete, the child may begin drooling. If the object is particularly large or produces an inflammatory mass over time, it may compress the trachea as well, producing signs of airway obstruction. Older patients may complain of neck or substernal pain or discomfort, especially with swallowing. Patients who have significant symptoms of esophageal or respiratory obstruction and those who have ingested sharp, potentially toxic, or caustic objects should undergo prompt endoscopic removal. Those who have ingested smooth objects and have mild symptoms can be observed for 12 hours and then have a repeat x-ray examination. If the object has passed into the stomach, endoscopy can be avoided. Otherwise, endoscopic removal is indicated. Although in many cases there is a clear history of ingestion, in a significant percentage the ingestion was not witnessed. A high level of suspicion is often required to make the diagnosis,

Figure 23-91  Laryngeal papillomas. Multiple smooth, warty growths are seen nearly occluding the larynx in this child who had a history of chronic hoarseness.

and the possibility of an esophageal foreign body should be considered in evaluating any young child for a sudden change in eating pattern. Plain radiographs detect metallic and other radiopaque objects (Fig. 23-93). Most ingested objects are plastic, however, and require barium swallow or in some cases endoscopy for detection. Delays in diagnosis can result in stricture formation or, more rarely, esophageal perforation with secondary pneumomediastinum, mediastinitis, pneumonia (Fig. 23-94), and/or large vessel hemorrhage. Similar to the concerns for button battery foreign bodies in the nose, special comment is necessary for button battery esophageal foreign bodies. When a button battery is suspected on the basis of history or radiographic imaging, prompt removal is warranted. The button battery is extremely destructive and may lead to esophageal perforation or tracheoesophageal fistula if it is not removed immediately.

OTOLARYNGOLOGIC MANIFESTATIONS OF GASTROESOPHAGEAL REFLUX DISEASE Over the past two decades, increased recognition and study of gastroesophageal reflux disease (GERD) have led to greater understanding of the disorder and its protean manifestations. As noted earlier, infants with GERD may develop nasopharyngeal congestion with varying degrees of mucosal inflammation, edema, and rhinorrhea. This is the result of exposure of

Figure 23-92  Vascular compression of the trachea. Anomalous innominate artery compression of the distal anterior tracheal wall. The presentation of this child was that of intractable wheezing during expiration that did not respond to bronchodilators. The child improved after thoracotomy for lifting (pexy) of the innominate artery off the trachea by sewing it to the inner surface of the sternum.

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Figure 23-93  Esophageal foreign bodies. A, This youngster accidentally swallowed a coin. He complained of throat pain and refused oral intake. When initially seen, the coin was lodged high in the esophagus. B, After observation overnight, repeat radiography revealed that the coin had moved down but was still lodged in the esophagus. The patient underwent endoscopic removal. Note that asymmetrical objects in the esophagus are oriented in the coronal plane, whereas in the larynx, they lie in the sagittal plane (see Fig. 23-81, A). (Courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

A

Figure 23-94  Esophageal foreign body. An unwitnessed ingestion of this safety pin led to a period of anorexia followed by fever and respiratory distress. The point of the pin had perforated the esophageal wall and pleura, causing a secondary right upper lobe pneumonia. (Courtesy Robert Gochman, MD, Schneider Children’s Hospital, Long Island Jewish Medical Center, New Hyde Park, N.Y.)

mucosal surfaces to gastric juices. Affected infants who are still obligate nose breathers may have respiratory distress with feeding (sucking) and are often reported to snore during sleep. Some, but by no means all, have a history of vomiting and/ or frequent spitting up, and parents may report that at times some of the regurgitated material comes out the nose.

A

B

Reflux has also been associated with cough and wheezing, especially during sleep. In most cases this reflects a reflex bronchospastic response to esophageal mucosal irritation, whereas in others, more severe reflux into the posterior pharynx with aspiration may be causative. In the latter, severe bouts of coughing and bronchospasm with patchy infiltrates on chest radiograph may be seen. Infants who aspirate repeatedly may be noted on bronchoscopy to have cobblestoning of the posterior tracheal mucosa (Fig. 23-95, A) and may also have prominent edema and inflammation of glottic structures (Fig. 23-95, B). Chronic or intermittent hoarseness can be an associated feature. GERD has also been found to be causative in cases of recurrent croup and contributes to laryngeal edema in laryngomalacia. In still other infants, reflux of even a minute amount of gastric contents onto the vocal cords can precipitate intense laryngospasm with attendant apnea. This tends to occur when the baby is laid down shortly after a feeding. If the apnea is unwitnessed and laryngospasm is prolonged, this can prove fatal. As noted earlier, subclinical GERD is common in infants with laryngomalacia and it is also present in the majority of infants with acquired subglottic stenosis. In addition to vomiting or spitting up, infants with GERD may have a range of symptoms of esophagitis. These may include crying after every few swallows with feeding (as reflux is induced by swallowing); refusal to feed; and arching and writhing movements of the neck and back, which constitute Sandifer syndrome. It is important to recognize that Sandifer movements; other symptoms of esophagitis; and snoring,

B

Figure 23-95  Airway manifestations of gastroesophageal reflux. A, This cobblestoned appearance of the posterior tracheal mucosa is the result of chronic inflammation in an infant with severe gastroesophageal reflux and recurrent aspiration. B, In this infant there is so much edema of the arytenoid mucosa that the arytenoids obscure the view of the posterior portion of the vocal cords. (A, Courtesy Anil Gungor, MD, Anadolu Foundation Healthcare System, Cayirova Mevkii, Gebze, Turkey.)

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cough, and bronchospasm that are worse during sleep can all occur in isolation or in any combination, and that they are often seen in the absence of overt vomiting and spitting. Hence when infants have these symptoms persistently, evaluation for GERD and/or empirical therapy should be instituted.

NECK DISORDERS Neck disorders including adenitis, congenital cysts, and vascular and lymphatic masses and tumors are commonly managed by otolaryngologists. Limitations of space have required us to be selective in presenting disorders in this chapter. The reader is referred to Chapter 12 for a discussion of cervical adenitis and to Chapter 17 for a description of mass lesions.

ACKNOWLEDGMENTS The authors acknowledge and thank Children’s Hospital of Pittsburgh, Department of Radiology, and University of Pittsburgh School of Medicine, Department of Neuroradiology, for providing many of the radiographs and CT scans in this chapter. Bibliography American Academy of Pediatrics, Subcommittee on Management of Acute Otitis Media: Diagnosis and management of acute otitis media, Pediatrics 113:1451–1465, 2004. Bluestone CD, Stool SE, editors: Pediatric otolaryngology, ed 4, Philadelphia, 2002, WB Saunders.

Bluestone CD, Wald ER, Shapiro GC: The diagnosis and management of sinusitis in children: Proceedings of a closed conference, Pediatr Infect Dis J 4:549–555, 1985. Bowen AD, Ledesma-Medina J, Fujioka M, et al: Radiologic imaging in otorhinolaryngology, Pediatr Clin North Am 28:905–939, 1981. Casey J, Adlowitz D, Pichichero M: New patterns in the otopathogens causing acute otitis media six to eight years after introduction of pneumococcal conjugate vaccine, Pediatr Infect Dis J 29:304–309, 2010. Davis HW, Gartner JC, Galvis AG, et al: Acute upper airway obstruction: Croup and epiglottitis, Pediatr Clin North Am 28:859–880, 1981. Gellady AM, Shulman ST, Ayoub EM: Periorbital and orbital cellulitis in children, Pediatrics 61:272–277, 1978. Gwaltney JM Jr, Phillips CD, Miller RD, et al: Computed tomographic study of the common cold, N Engl J Med 330:25–30, 1994. McAlister WH, Lusk R, Muntz HR: Comparison of plain radiographs and coronal CT scans in infants and children with recurrent sinusitis, Am J Roentgenol 153:1259–1264, 1989. Melnick M, Bixler D, Nance WE, et al: Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes, Clin Genet 9:25, 1976. Orobello P, Park R, Belcher L, et al: Microbiology of chronic rhinosinusitis in children, Arch Otolaryngol Head Neck Surg 117:980–983, 1991. Rosenfeld R, Bluestone CD, editors: Evidence-based otitis media, Hamilton, ON, Canada, 1999, BC Decker. Rowland PS, Smith TL, Schwartz SR, et al: Clinical practice guideline: Cerumen impaction, Otolaryngol Head Neck Surg 139(3 Suppl 2):S1–S21, 2008. Ungkanont K, Yellon R, Weissman J, et al: Head and neck space infections in infants and children, Otolaryngol Head Neck Surg 112:375–382, 1995. Wald ER: Acute sinusitis in children, Pediatr Infect Dis J 2:61–68, 1983. Wald ER, Milmoe GJ, Bowen A, et al: Acute maxillary sinusitis in children, N Engl J Med 304:749–754, 1981. Zhang L, Mendosa-Sassi R, Cesar J, et al: Intranasal corticosteroids for nasal airway obstruction in children with moderate to severe adenoidal hypertrophy, Otolaryngol Head Neck Surg 140:451–454, 2009.

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Sameh Tadros  |  Vera Sperling  |  Sunhee Kim

T

he last three decades have produced an enormous era of technical advance, data acquisition, and data transfer espe­ cially pertaining to imaging. This has resulted in significant changes in protocols for imaging of various symptom com­ plexes. New imaging modalities such as computed tomo­ graphy (CT), magnetic resonance (MR), and positron emission tomography (PET) have expanded our ability to diagnose previously hidden conditions and also our knowledge of these conditions. The goal of this chapter is to highlight pediatric imaging and to review the imaging issues faced in routine pediatric practice. This chapter is not meant to be a comprehensive review of the subject because many well-selected radiology images and related discussions have been included in the other chapters. The first section includes an introduction to pediatric radiology and radiation safety, and conveys concise, up-to-date information on imaging modalities as they are applied to each body part. The second section describes the various CT and MR applications in neuroimaging. The last section covers key concepts on how and why nuclear medicine and PET procedures are performed.

INTRODUCTION Children have special needs and different disease processes, and thus the diagnostic imaging approaches are also different. Pediatric imaging should be problem oriented. Communica­ tion between the referring physician and the pediatric radio­ logist is encouraged (e-Table 24-1). The essential components of a pediatric imaging facility are listed in Table 24-1.

Imaging Modalities Pediatric diagnostic imaging can be achieved by various modalities (Table 24-2). X-rays are used in conventional radio­ graphy, computed radiography (CR), fluoroscopy, angiogra­ phy, and computed tomography (CT). Gamma rays are used in nuclear scintigraphy and positron emission tomography (PET). Ultrasonography uses inaudible sound waves ranging in frequency from 1 to 20 MHz to produce images, whereas magnetic resonance (MR) images are generated with a strong magnetic field and radiofrequency (RF) pulse. The digital age has provided us with picture archiving and communication systems (PACS). A PACS eliminates the use of films, permits rapid retrieval of images and remote viewing, and compacts storage.

Child-friendly Atmosphere A few simple techniques can help create a positive hospital experience for the child. Distraction in the waiting room may be beneficial for children of all ages, and can be achieved with

posters, pictures, and toys. Effective distraction for toddlers includes interactive toys, pinwheels, blowing bubbles, and singing. School-age children enjoy blowing bubbles, TV/video games, books, counting, and deep breathing. Teenagers may prefer deep breathing, stress balls, TV/video games, books, and music. The well-trained imaging staff can relieve the patient’s apprehension and decrease time and effort to obtain the optimal examination. Technologists should have a gentle demeanor and wear child-friendly, cheerful uniforms. Child life specialists are specially trained to help children prepare for health care experiences and enable them to cope with imaging or invasive procedures. If aspects of a procedure are painful or uncomfortable, any child older than age 2 is prepared in advance with truthful information, using words that can be understood. The child life specialist is especially useful in some situations, such as (1) a child whose injuries have resulted from suspected child abuse; (2) a child admitted with accidental injuries (e.g., a motor vehicle accident); (3) a child newly diagnosed with chronic illness; (4) a child who recently experienced traumatic loss or has a chronic illness (developmental delay); (5) a child who exhibits oppositional behavior; (6) a child having difficulty coping with a necessary procedure, that is, crying, fighting or hiding; and (7) a child who needs preparation for an invasive procedure. Environment The imaging room’s environment is modified to reduce a child’s anxiety. Smaller equipment can be hidden or concealed with covers and images. Large equipment such as CT scanners can be decorated to give a sense of adventure (Fig. 24-1), and allow study acquisition without sedation. Other distraction techniques include lamps placed in the line of vision of the patient and displaying entertaining images on the ceiling (Fig. 24-2), or the release of piquant aromas in the imaging room (e.g., coconut). Movie goggles allow the child to watch a favorite movie while undergoing magnetic resonance imaging (MRI) or a nuclear medicine scan. Positioning The technologist usually allows parents to be present in the examining rooms and even to assist with some studies. This decreases the repeat rate and so decreases the radiation dose to the child. When a child lies supine, he or she may feel vulnerable. Comfort positions can give children a sense of control and help them feel more relaxed, that is, sitting on a chair or in a parent’s lap, hand-holding with a parent, or hugging. The child is encouraged to participate in producing the best possible examination by being permitted to make individual choices (e.g., placement of a toy or blanket, the position of a parent, the flavor of oral contrast material, or the selection of a bandage). 961

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Figure 24-1  PET/CT suite known as “Camp Cozy.”

Language The radiology team should always remember to use simple language for child-friendly explanations. For children of any age, the wrong choice of words can have a negative impact and potentially long-lasting effects. Avoid saying “dye/ contrast”; say instead, “a drink/sticky water that helps the doctor see the inside of your belly clearer in your pictures.” Also, describe the imaging room environment in ways that

Table 24-1

Essential Components of Pediatric Imaging

• Communication and consultation between practitioners and radiologists • Patient and parent preparation • Child-friendly atmosphere • Safe patient immobilization and sedation • Radiation protection • Age-appropriate imaging techniques From Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics, Philadelphia, 2005, Mosby Elsevier.

Table 24-2

Figure 24-2  Child-friendly light display that shines on the walls and ceiling of the ultrasound examination room.

can be related to the child’s home, for example, the noise of a CT scanner can be described to be like that of a “washing machine,” or a urinary catheter can be described as a “tiny straw that takes out pee-pee and puts in the x-ray water.” Young children have little sense of time; the radiology team should always prepare them to know when they will be done with their examination. For example, if a child is undergoing a voiding cystourethrogram (VCUG), avoid saying, “this will only take 15 minutes”; instead, say “you’ll be all finished and get up after you potty on the table for us.”

Advantages and Disadvantages of Imaging Modalities

Modality

Advantages

Disadvantages

X-ray film Fluoroscopy

Fast; relatively inexpensive; available Real-time imaging; relatively inexpensive; available; useful in operating room; can be portable Readily available; excellent delineation of bones, soft tissues, and calcification; multiplanar and 3D reconstruction; minimally invasive (CT angiography); assists in interventions Excellent soft tissue characterization; no ionizing radiation; multiplanar imaging; minimally invasive (MR angiography); functional imaging; assists in interventions

Uses radiation; poor soft tissue contrast; two-dimensional imaging only Uses radiation; no cross-sectional imaging

CT MRI

Ultrasound

Nuclear medicine

Portable; inexpensive machine; real time; least expensive cross-sectional imaging modality; no radiation; differentiates cystic vs. solid masses; multiplanar imaging; Doppler evaluation of blood flow; assists in interventional procedures Readily available; functional/molecular imaging

Intermediate to high radiation dose; relatively expensive; IV contrast side effects (nephrotoxicity and anaphylaxis); weight limit Less readily available; expensive; claustrophobia often a problem; lengthy exams; limited use in unstable patients; may need sedation/ GA; metal artifact; contraindicated with cardiac pacemakers and some devices; gadolinium-induced nephrogenic systemic fibrosis (NSF) in patients with renal impairment; weight limit Difficult with obese and immobile patients; highly operator dependent; bone and gas obscure anatomy

Intermediate to high radiation dose; weak anatomic analysis; may need sedation; radioactive urine and body fluids; expensive

3D, three-dimensional; CT, computed tomography; GA, general anesthetic; IV, intravenous; MRI, magnetic resonance imaging.

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Table 24-3

Estimated Medical Radiation Doses for a 5-Year-Old Child

Imaging Area Three-view ankle Two-view chest Anteroposterior and lateral abdomen Tc-99 m radionuclide cystogram Tc-99 m radionuclide bone scan FDG PET scan Fluoroscopic cystogram Head CT Chest CT Abdomen CT

Effective Dose (mSv) 0.0015 0.02 0.05 0.18

Equivalent No. of CXRs 1/14th 1 2 12 9

6.2

310

15.3 0.33

765 16

4 3 5

200 150 250

CT, computed tomography; CXRs, chest x-rays; FDG PET, fluorodeoxyglucose positron emission tomography; Tc-99 m, technetium-99 m. Data provided by R. Reiman, MD (Occupational and Environmental   Safety Office, Radiation Safety Division [www.safety.duke.edu/RadSafety], written communication, 2006). From Brody AS, Frush DP, Huda W, et al: Radiation risk to children from computed tomography, Pediatrics 120:677-682, 2007.

Effective Radiation Dose Effective dose is expressed as an SI unit, the millisievert (mSv) (Table 24-3). A major benefit of the effective dose is that it permits all radiologic examinations that use ionizing radiation to be directly compared, using a simple common scale. Note that the effective radiation dose of one adult chest radiograph (0.1 mSv) is comparable to natural background radiation for 10 days (background radiation is 3 mSv/year in the United States; people living in Colorado or New Mexico receive about 1.5 mSv more per year than those living near sea level, that is, 4 to 5 mSv/year).

Radiation Safety The radiologist as “consultant” can triage imaging examina­ tions to eliminate inappropriate referrals or to use procedures with less or no ionizing radiation. Imaging protocols must be as evidence-based as possible and the American College of Radiology (ACR) and the Society of Pediatric Radiology (SPR) guidelines should be implemented. Americans were exposed to more than seven times as much ionizing radiation from diagnostic medical procedures in 2006 than they were in the early 1980s. The increase over the past quarter century puts the cumulative national medical expo­ sures on a level with natural background radiation exposure (Fig. 24-3). The estimated cumulative individual dose from all sources in the early 1980s was 3.6 mSv and in 2006 was 6.2 mSv, almost double the previously reported value. The increase in medical exposure was the only significant change in the two estimates. The largest part of the increase in medical exposure was from CT scans, amounting to almost one half of the imaging exposure, and nuclear cardiac scans, amount­ ing to one fourth of the current total (Fig. 24-4). In 2006 alone, more than 63 million CT scans were performed in the United States. Approximately 7 million CT scans were obtained in children in 2007. Children are at increased risk from radiation because of their greater sensitivity to radiation and a longer lifetime to manifest those changes. To be safe, we should act as if low doses of radiation cause harm using the ALARA (as low as reasonably achievable) principle routinely.

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The exact radiation risk in CT examinations, and even whether a risk absolutely exists, are controversial topics. However, most scientific and medical organizations support the concept of the linear, no-threshold model for ionizing radiation risk of cancer induction, and believe that radiation even at low levels (doses below 100 mSv) may have a harmful effect. This assumption, however, overlooks cellular repair mechanisms. Some researchers estimate the increased risk that a young child might develop cancer related to an abdomi­ nal CT scan is in the magnitude of 1 : 4000. This is based on the most widely used estimate of risk of cancer from ionizing radiation at 5% per sievert (Sv), and the diagnostic imaging doses are in the millisievert (mSv) range (5 mSv for abdomi­ nal CT). One should also note that the background lifetime risk of fatal cancer is 20% to 25% (1 in 4 or 5). The benefits of CT are real and known, and the risks are tiny and unknown. Conservative estimations of potential risk (i.e., any required assumptions are made toward the direction of overestimating risk rather than underestimating it) show that the potential risk of dying from undergoing a CT examination is less than that of drowning or of a pedestrian dying from being struck by any form of ground transportation, both of which most Americans consider to be extremely unlikely events (e-Table 24-2); this provides a comparison of the statistical odds of dying from an abdominopelvic CT examination rela­ tive to other causes of death. It can be seen that the lifetime risk of a fatal cancer from all causes is 22.8%, and the lifetime potential risk of a fatal cancer from the radiation associated with a body CT examination is approximately 0.05%. The ordering physician needs to ensure that a CT scan is justified, and the radiologist needs to optimize the scan. Because children are smaller than adults and need less radia­ tion to create the same signal-to-noise ratios, the tube current (milliamperes, or mA) can be greatly reduced when imaging a small child. Other techniques include reducing the peak kilovoltage (kVp); using in-plane shielding for areas such as the eye, thyroid, and breasts; increasing beam pitch; and picking a CT manufacturer that has put effort into dosereducing technology (e.g., adaptive statistical iterative recon­ struction, or ASIR) (Fig. 24-5).

The “Image Gently” Campaign The Alliance for Radiation Safety in Pediatric Imaging has created resources to address the relative risk of CT for chil­ dren, including parent information pamphlets and a conve­ nient medical imaging record card, similar to the familiar immunization card, for parents to track their child’s imaging history. This card may be distributed by pediatricians or downloaded by parents from the Image Gently website (e-Fig. 24-1). This card alerts families and their doctors to the frequency of patient imaging examinations. With relocation of families and the use of different hospital centers in the same community, this card may help decrease the number of repeat examinations performed.

RADIOGRAPHY Introduction Advantages of Radiography in Pediatric Imaging The advantages of radiography in pediatric imaging include the following: 1. Fast 2. Relatively inexpensive 3. Available

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2006

Early 1980s Background (50%)

Background (83%) Occupational/industrial (0.1%)

Occupational/ industrial (0.3%) Consumer (2%)

Consumer (2%)

Medical (15%) Medical (48%)

Collective effective dose (person-Sv) Effective dose per individual in the U.S. population (mSv)

Early 1980s

2006

835,000

1,870,000

3.6

6.2

Figure 24-3  Exposure of the population of the United States to ionizing radiation in the early 1980s and in 2006, according to National Council on Radiation Protection and Measurements (NCRP) report no. 160 (Ionizing radiation exposure of the population of the United States). (From Schauer DA, Linton OW: National Council on Radiation Protection and Measurements report shows substantial medical exposure increase, Radiology 253:293-296, 2009.)

4. No need for sedation

1. Uses ionizing radiation

5. Portable

2. Poor soft tissue contrast

6. Plain films of the chest and skeletal system are important (about 50% of all pediatric imaging consists of chest radiographs)

3. Two-dimensional imaging only

Disadvantages The disadvantages of radiography in pediatric imaging include the following:

Physics X-rays are a form of short electromagnetic radiation produced by energy conversion when fast-moving electrons from the cathode filament of the x-ray tube interact with the tungsten anode (target) (Fig. 24-6). The amplitude of the tube current

Space (background) Internal (5%) (background) (5%) Terrestrial (background) (3%) Radon & thoron (background) (37%)

Computed tomography (medical) (24%)

Industrial (0.1%) Occupational (0.1%) Consumer (2%) Nuclear medicine (medical) (12%)

Conventional radiography/fluoroscopy (medical) (5%) Interventional fluoroscopy (medical) (7%)

Figure 24-4  Collective effective dose as a percentage for all exposure categories in 2006, according to National Council on Radiation Protection and Measurements (NCRP) report no. 160 (Ionizing radiation exposure of the population of the United States). (From Schauer DA, Linton OW: National Council on Radiation Protection and Measurements report shows substantial medical exposure increase, Radiology 253:293-296, 2009.)

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B

A Figure 24-5  Targeted low-dose CT of the upper chest of a 12-year-old for follow-up of left upper lobe cavity (arrow); effective dose, 0.5 mSv. A, Axial image; B, coronal reformatted image.

(expressed as milliamperes, or mA) depends on the emission rate of electrons from the cathode, which is determined by the cathode temperature. The speed of the electrons as they are propelled from the cathode to the anode is determined by the x-ray tube potential (kilovoltage peak, or kVp). When an x-ray beam is directed toward the examined part of the body, an image is formed. The resultant image is a recording of internal body structures in which the black areas represent the least dense body structures that have allowed the x-rays to pass through (i.e., lungs) and the more dense structures (i.e., bone), which have absorbed the x-rays, appear white (e-Fig. 24-2). Computed radiography (CR) has replaced conventional film-based radiography. The acquired image is displayed instantly on the high-resolution monitor of the PACS. e-Table 24-3 lists common indications for plain radiography.

Radiography of the Airway The anteroposterior (AP) and lateral views of the neck are useful in assessing the trachea, pharynx, retropharynx, epi­ glottis, tonsils, adenoids, and bony skeleton. Stridor is one of the most common indications for imaging the neck. Other indications include snoring, hoarseness, abnormal cry, neck mass, suspected foreign body, epistaxis, trauma, and caustic ingestion.

Rotating anode

Tube current (electrons)

X-ray photons Figure 24-6  X-ray production.

Cathode filament

Lateral Soft Tissues of the Neck The retropharyngeal soft tissues extend from the adenoids, which are visible by 3 to 6 months of age, to the origin of the esophagus at the level of C4 to C5. A useful ratio is the width of the retropharyngeal soft tissue to that of the C2 vertebral body. The ratio varies in inspiration from almost 1.0 before 1 year of age to 0.5 by 6 years of age. The soft tissue width should not exceed 50% of the accompanying vertebral body to C4 (Fig. 24-7). Expiratory tracheal buckling can create buckling of the trachea anteriorly, causing an apparent increase in retropharyngeal soft tissues and creating a “pseudoretropharyngeal abscess” (Fig. 24-8). Pseudo-retropharyngeal abscess can be differentiated from a true abscess when the appropriate inspiratory film demonstrates supraglottic airway and hypopharyngeal distention with air (Fig. 24-9). Appropri­ ate patient positioning is critical. The examination of the lateral view of the soft tissues of the neck must be performed in slight extension and during inspiration (Fig. 24-10). The most common cause of a pseudo-retropharyngeal abscess is a film taken during expiration or swallowing, or with an improp­ erly positioned child. The lateral view of the neck is optimal for evaluating the supraglottic airway (see Fig. 24-7). The lower border of the nasopharynx is the hard palate, soft palate, and uvula. The oropharynx (below the hard and soft palate) leads to the air spaces at the base of the tongue, which are the valleculae. Immediately behind the valleculae is the epiglottis. The hyoid bone is inferior and anterior to the valleculae. The oropharynx also merges posteriorly with the nasopharynx to form the hypopharynx. The tonsils are seen in the lateral walls of the hypopharynx. Anteriorly, the hypopharynx leads to the larynx and becomes the esophagus. The pyriform sinuses are the most lateral and inferior margins and provide a landmark for the level of the vocal cords. The lateral film is important in the assessment of (1) the encroachment of adenoidal tissue on the nasopharyngeal airway; (2) retropharyngeal swelling/abscess (air in the retro­ pharyngeal space); (3) the degree of hypopharyngeal airway distention as a measure for airway encroachment (croup); and (4) identification of a radiopaque foreign body. Calcification in respiratory cartilage, although very rare in children, is pathologic; it is seen in chondrodysplasia punctata and relaps­ ing polychondritis. The hyoid bone may be ossified at birth. Anteroposterior Film of the Neck The frontal radiograph is best for evaluation of tracheal posi­ tion. Normally, the trachea is slightly deviated to the right by the aortic arch (deviation to the left is always abnormal). A normal thymus will not affect the trachea. Expiration causes

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Nasopharynx

Uvula

Oropharynx

Epiglottis

Aryepiglottic folds Base of tongue

Hypopharynx

Vallecula Pyriform sinus

Laryngeal ventricle

A

B

Esophagus

Subglottic trachea

Figure 24-7  A, Lateral radiograph of a normal airway. The cornua of the hyoid (arrowhead) point to the epiglottis. a, adenoids; t, tonsil. B, Diagrammatic representation of the normal anatomy of the upper airway. (B, From Blickman JG, Parker BR, Barnes PD: Pediatric radiology: The requisites, ed 3, Philadelphia, 2009, Mosby Elsevier.)

buckling of the trachea to the right (see Fig. 24-8). Note that the airway is a dynamic system and changes in caliber and position so that an isolated, single film may be quite mislead­ ing. Nonetheless, an abnormal configuration of the airway should be pursued in light of the clinical history.

Chest Radiograph Interpretation of the Chest Film: 1. The Radiologist’s Circle A systematic approach to the radiographic evaluation is crucial for anyone dealing with children. Comparison with previous imaging studies is mandatory and is facilitated by the use of

A

a PACS. A chest film is always examined for information about the heart and lungs, but radiologists look first at the nonpul­ monary areas, that is, the abdomen, bones, soft tissues, and airway, to be sure that they do not miss any abnormality. Only then should one progress to the mediastinum. A good habit to develop is to imagine a circle on the film so as to dispense with all the noncardiopulmonary areas. Begin at the corners, where the patient information is. Check the name, date, and especially the left and right markers. An easy way to complete the circle is to progress from the name tag to the markers to the ABCS of the film: A, abdomen; B, bones; C, chest (airway, mediastinum, lungs, and diaphragm); and S, soft tissues. Carefully observe the easily missed areas: under the

B

Figure 24-8  Normal tracheal buckling. Chest radiographs of a 4-month-old infant demonstrate tracheal buckling, a normal occurrence when the film is exposed during flexion and/or expiration. A, In the frontal projection, normal tracheal buckling occurs rightward, away from the aortic arch. B, Anterior buckling is evident on the lateral projection. This normal anterior tracheal displacement frequently causes confusion because it simulates a retropharyngeal mass. Note that the airway should be visible on all normal chest films.

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A

967

B

Figure 24-9  Effect of phase of respiration on the prevertebral soft tissue space. Arrow in A demonstrates the prevertebral soft tissue widening on expiration that disappears on inspiration (B). (From Blickman JG, Parker BR, Barnes PD: Pediatric radiology: The requisites, ed 3, Philadelphia, 2009, Mosby Elsevier.)

diaphragm, through the heart, paraspinal lines, lung apices, shoulders, and soft tissues of the neck. On every chest film, read the abdominal portion as you would read an abdominal film. Evaluate the abdomen (regard­ less of how little of it can be seen) on every chest film, and note whether the stomach bubble is on the left and the liver on the right. Is it an erect film? If so, examine it specifically for calcifications, gallstones, or pancreatic calcification. Determine the presence of bowel distention, air–fluid levels, and free intraperitoneal air. The heart and liver are transparent organs; one can see opacities or bronchial markings projecting

A

over their shadows. Then look at bones and soft tissues; one can often see portions of the arms, shoulders, ribs, sternum, and mandible, as well as cervical, thoracic, and lumbar ver­ tebrae. Be alert for fractures (Fig. 24-11), congenital abnor­ malities (e.g., absent clavicles), bone destruction, or other signs of disease. Examine the soft tissues of the neck, thorax, and abdomen to detect any swelling, foreign body, calcifica­ tions, and so on. The soft tissues may reveal multiple artifacts, such as hair braids, buttons, bandages, electrocardiogram (ECG) electrodes, or redundant skin folds. Soft tissue swelling or subcutaneous calcifications can be clues to systemic disease.

B

Figure 24-10  False-positive identification of a retropharyngeal mass. A, An examination with poor head extension suggests a retropharyngeal mass. B, A repeat examination with better head extension and pressure applied to the anterior neck with a lead-gloved finger; the retropharyngeal soft tissues are normal. Intervention with a gloved finger is seldom necessary if the film is repeated in full extension and inspiration. (From Hilton SvW, Edwards DK III: Practical pediatric radiology, ed 3, Philadelphia, 2006, Saunders Elsevier.)

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magnification. Routinely, portable films are exposed 40 inches (1 m) from the tube, adding to the magnification. This is compared to 6 feet (1.8 m) used in the erect patient, which causes less magnification. When the patient is supine, the vascular supply to the upper and lower lobes of the lungs is equal because gravity has no effect. When sitting or standing, gravity plays a signifi­ cant role, and the upper lobe vessels are less distended than the lower lobe vessels and consequently smaller (one third to two thirds size). One can determine that a film was produced with the patient in the erect position by looking at the air–fluid level in the stomach and by comparing the relative sizes of the upper and lower pulmonary vasculature. Figure 24-11  Supine chest radiograph of a 3-day-old newborn with surfactant deficiency. A radiologist interpreting this chest film systematically, that is, by examining the ABCS (A, abdomen; B, bones; C, chest [airway, mediastinum, lungs, and diaphragm]; and S, soft tissues), shouldn’t miss the fracture involving the right humerus at the edge of the image. Note that the patient is rotated to the left with the heart appearing prominent, likely due to rotation.

Interpretation of the Chest Film: 2. Technical Factors Degree of Inspiration: Lung Volumes On an adequate film obtained during deep inspiration, nine posterior ribs and five anterior ribs should be seen above the diaphragm. If the child is too young to cooperate, expose on full inspiration, during normal respiration. Babies’ and tod­ dlers’ breathing is abdominal: watch for an expanded abdomen in the AP position. The child/baby must not be crying during exposure. If so, inspiration will be too deep, and the overin­ flated lungs may create a misleading appearance that can be mistaken for pathology. The differences in appearance on inspiration and expiration are more marked than in adults. With a good inspiratory effort on the frontal view, less than one third of the heart projects below the dome of the dia­ phragm; the domes of the diaphragm are rounded (if very domed, the film is expiratory). If the child has taken a shallow breath, the heart may appear enlarged; the vessels may coalesce to give a false impression of an opacity, especially in the region of the bases and hila. On the lateral view, obliquely oriented hemidiaphragms are seen in good or possibly increased lung volume (if horizontally oriented, the film is expiratory). The vertebral bodies become blacker as we prog­ ress from superior to inferior on the lateral view. Position of the Patient Conventional radiographs of the chest are frequently produced with a portable machine and with the younger patient (less than 2 years of age) placed supine. Upright films can be obtained after age 2; until 3 or 4 years old the patient is usually sitting for an AP projection. Children aged 5 years and over can stand for a posteroanterior (PA) projection. Proper immo­ bilization and positioning are mandatory. For radiation protec­ tion purposes, the primary beam must be collimated within the area of the cassette, and pediatric lead rubber aprons, obtainable in several sizes, should be used for gonadal protec­ tion. Frontal views are often the only ones necessary, but lateral views can be obtained as indicated. When the x-ray passes through the patient from back to front (a PA projection), the heart is closer to the film and is less magnified. Conversely, if the x-ray beam enters the front of the patient’s chest, passes through the back and onto the film (an AP projection), the magnified heart and great vessels may give the impression of cardiomegaly. This is a common problem with portable chest films, which are taken in the AP projection. Also, the closer the tube to the film, the more the

Determining Rotation If the patient is well centered on the frontal view: (1) the medial aspects of the clavicles are symmetrical in relation to the midline; (2) the anterior ribs are equidistant from ipsilat­ eral pedicles; (3) the position of the carina approximates the right pedicles; and (4) the two lungs are symmetrical in density. The signs of rotation include asymmetrical clavicles, a difference in lung aeration, heart projected over one hemi­ thorax and not the other, and asymmetrical ribs when relating the anterior rib to the pedicles (see Fig. 24-11). On the lateral view, the ribs are not seen posteriorly in the straight (unro­ tated) patient. If the patient is slightly rotated, the ribs are shown on each side posterior to the spine. Adequacy of Exposure Adequacy of exposure can be assessed on the frontal film by examining the vertebral column behind the heart. The expo­ sure is correct when we can see (1) the detailed spine and pedicles behind the heart, and (2) the pulmonary vessels in the peripheral lung. If we can see only the spine but not the pulmonary vessels, the film is too dark (overexposed). Mediastinum The mediastinum is composed of the thymus, trachea, heart, great vessels, esophagus, lymph nodes, and neural elements. The mediastinum is divided on the lateral radiograph into (1) the anterior portion, including the space in front of the heart and great vessels; (2) the middle portion, that is, the space between the anterior and posterior mediastinal compo­ nents, including the heart, airway, esophagus, and lymph nodes; and (3) the posterior portion, including everything behind a line connecting the mid-portion aspects of the verte­ brae, including the vertebrae, neural elements, and paraspinal lymph tissue. In some classifications the posterior mediasti­ num begins with the anterior aspect of the vertebral body. Thymus The thymus may make interpreting pediatric chest radiographs difficult. It can simulate cardiac enlargement, lobar collapse, pulmonary infiltrates, and mediastinal masses. The thymus constitutes the major portion of the mediastinal silhouette in a normal newborn. It may extend from the lung apex to the diaphragmatic surfaces; be insinuated into the minor fissure on the right, giving a “sail sign” (see e-Fig. 24-2); and may be bilaterally symmetrical or predominantly one-sided (Fig. 24-12). The normal thymus is a “soft” organ situated in the anterior mediastinum and never “pushes” on the airway or any other intrathoracic structure. The thymus appears smaller as the child becomes older, but the thymus weighs most in adolescents. It is prominent in some children until 4 to 5 years of age, and may persist beyond 5 years, confounding interpretation. Thymic remnants can remain in adults and will be gradually replaced by fat. In an unwell child the thymus can decrease in size and is often not seen. The contour of the

24  |  Fundamentals of Pediatric Radiology



969

Figure 24-12  Coronal MRI of the chest (short tau inversion recovery [STIR] sequence) demonstrates a left-sided normal thymus in a 7-month-old infant. An anterior cut shows the “wavy thymus sign” (arrows) as the thymus insinuates itself between the anterior ribs (r).

thymus is “wavy” because it insinuates itself between the anterior ribs (Fig. 24-13; and see Fig. 24-12). Effect of Age on the Normal Appearance of the Heart The shape of the heart on plain radiographs changes with the patient’s age. The heart in younger individuals appears more globular in shape, making analysis of specific chamber abnor­ mality difficult. The newborn right heart chambers are larger than the left, and before closure of the patent ductus arterio­ sus, right-sided cardiac output is greater than left-sided output. This makes identification of the aortic arch difficult or impos­ sible. The right atrial contour in the frontal view and the right ventricular contour in the lateral view will appear abnormally enlarged in these patients. Furthermore, the transverse diam­ eter of the heart is increased, thus increasing the normal cardiothoracic ratio. The thymic shadow regresses by the end of the first year of life, and the heart appears to rotate and descend into the chest. The typical “normal” appearance of the heart does not begin to become apparent until 6 to 8 years of life. However, through adolescence, the apparent size of the

A

Figure 24-13  Chest radiograph of a 1-day-old newborn shows the wavy thymus contour.

main pulmonary artery segment remains increased. Through the teens and early twenties, the size of the main pulmonary artery and base of heart continue to decrease, and the size of the aortic arch increases in caliber, so that by the mid-twenties, the appearance of a “normal” heart may be characterized (Fig. 24-14). Neonatal Chest Radiograph Manipulating preterm infants for radiographs must be done with care. Attention must be directed to maintaining oxygen levels, preventing cardiorespiratory complications, preventing heat loss, warming cassettes, and paying attention to good hand washing. Gonad/thyroid shielding is placed on top of

B

Figure 24-14  A, Posteroanterior radiograph of a 30-year-old woman is shown. The lateral border of the left-sided aortic arch (Ao) and proximal descending aorta (short arrows) are clearly seen. The main (MP) and proximal left (L) pulmonary artery are seen cephalad to the left bronchus (long arrow). The left atrial appendage section (small arrowhead) is inferior to the crossing of the left bronchus and cephalad to the left ventricular contour (curved arrows) of the left heart border. The superior vena cava is not seen on this examination. However, the ascending aorta (small open arrow) is seen barely over the hilar right pulmonary artery (R). The right atrial contour (large arrowheads) extends just to the right of the spine. B, Spin-echo MRI obtained from a different 30-year-old woman is shown. The left heart border–forming structures are the aortic arch (Ao), which is to the left of the trachea (T), the distal main pulmonary artery (PA), left atrial appendage (aa), and anterolateral portion of the left ventricle (LV). The transverse right pulmonary artery (RP) passes over the left atrium (LA). Notice that the Ao and PA are equal in caliber. The mitral valve (small arrows) and coronary sinus (large arrow) are shown. (From Boxt LM: Plain-film examination of the normal heart, Semin Roentgenol 34:169-180, 1999.)

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the incubator rather than inside it. The cross-table lateral film is used when there is a possibility of free air (pneumothorax or pneumomediastinum). Because the infant is supine, and air rises to the most nondependent location, air can be seen under the sternum. The airway should be visible on all chest films. The trachea is not a midline structure (the carina projects adjacent to the right pedicles). Buckling of the trachea is normal. The airway is a dynamic structure that changes in caliber; however, if on all views the airway is persistently small, further investigation is necessary. It is normal for neonates and young infants to occasionally have some air in the esophagus (not so in older children). The ideal position of the endotracheal tube is at the level of the inferior margins of the clavicles, or about 1.5 vertebral bodies above the carina. The aortic arch frequently cannot be seen in a neonate, and its position must be inferred from the position of the carina. If the carina overlies the right pedicles, the aortic arch is leftsided. A right-sided aortic arch may be inferred if the position of the carina is at the midline or to the left. A right aortic arch should alert the physician to the possibility of congenital heart disease and/or a vascular ring. In neonates and infants the cardiothoracic ratio can be up to 60% (the adult dimension is 50%). Measuring the heart size on an AP film is accurate in this age group as there is minimal magnification of the heart (unlike in adult AP chest radiographs). If the heart is large, it should appear so in both frontal and lateral views. On the lateral radiograph, the retrocardiac air space should be seen in a normal-sized heart, and the carinal line (a perpendicular line drawn from the carina to the diaphragm) should not intersect the heart. A second method to evaluate heart size on the lateral film is the anterior tracheal line (a line parallel to the anterior wall of the trachea that extends inferiorly to the diaphragm). This line should not intersect the heart, nor should the line be pushed back to “hit” the spine above the diaphragm. Both methods work best on nonrotated lateral films. If a frontal film shows questionable cardiac enlarge­ ment, look at the lateral film. If the lateral film is normal, the heart size is normal. In infants and older children, pulmonary vascular changes may help in detecting a left-to-right shunt circulation. In the newborn, however, the pulmonary vessels can be seen at the hila and only in the medial third of the lungs. When there is vascular congestion secondary to congestive heart failure or overcirculation from a left-to-right shunt, the vascularity becomes much easier to see in the lateral two thirds of the lung. It is much more difficult to detect decreased pulmo­ nary vascularity (as found in severe pulmonary stenosis or atresia). Categorization of Congenital Heart Disease on the Basis of Pulmonary Blood Flow Cyanotic Heart Disease Cyanotic heart disease may involve the following: • Increased pulmonary blood flow: Truncus arteriosus and total anomalous pulmonary venous return • Decreased pulmonary blood flow: Tetralogy of Fallot, Ebstein anomaly, and pulmonary atresia with intact ven­ tricular septum • Variable flow: D-transposition of the great arteries and tricuspid atresia Acyanotic Heart Disease Acyanotic heart disease may involve the following: • Normal pulmonary blood flow (obstructive lesions): Coarctation of the aorta, aortic stenosis, and pulmonary artery stenosis

• Increased pulmonary blood flow (left-to-right shunt): Ventricular septal defect, atrial septal defect, atrioven­ tricular septal defect, and patent ductus arteriosus Congestive Heart Failure of the Newborn (Increased Pulmonary Venous Flow) Left-sided Anatomic Obstruction Left-sided anatomic obstruction may involve the following: • Coarctation of the aorta • Aortic stenosis Left Ventricular Dysfunction Left ventricular dysfunction may involve the following: • Abnormal origin of the left coronary artery • Myocarditis • Shock • Birth asphyxia • Hypoplastic left heart • Pulmonary venous atresia/stenosis General Systemic Illness General systemic illness may involve the following: • Anemia • Polycythemia • Hypoglycemia • Sepsis • Atrioventricular malformations such as hemangioendo­ thelioma of the liver and vein of Galen malformation (e-Fig. 24-3, A and B). Diffuse Pulmonary Disease in the Newborn The differential diagnosis of the various diffuse pulmonary conditions is described in Table 24-4. Premature infants are prone to complications related to therapy, such as: • Air leak secondary to barotrauma: pulmonary interstitial emphysema, pneumomediastinum, pneumopericardium, pneumothorax, pneumoperitoneum, and air embolism • Misplaced or perforated tubes: If the infant who is intu­ bated is having unexplained respiratory distress, two views (frontal and lateral) may help define tube position • Stone formation: gallstones (secondary to hyperalimenta­ tion), and renal stones (secondary to diuretic therapy, e.g., furosemide) • Central nervous system hemorrhage • Oxygen toxicity (retinopathy of prematurity) • Line infection and vascular thrombosis Focal Lung Lesions in Neonates on Chest Radiography Lucent Lesions Lucent lesions may involve the following: • Congenital lobar emphysema • Congenital cystic adenomatoid malformation • Persistent pulmonary interstitial emphysema • Congenital diaphragmatic hernia Solid Lesions Solid lesions may involve the following: • Sequestration • Bronchogenic cyst • Congenital cystic adenomatoid malformation Mediastinal Masses The following outline is a useful summary of the etiology of mediastinal masses:

24  |  Fundamentals of Pediatric Radiology



Table 24-4

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Neonatal Chest Vignettes Hyaline Membrane Disease

Transient Tachypnea of the Newborn

Meconium Aspiration

Neonatal Pneumonia

Typical patient

Premature

Time course Lung volume Radiographic characteristics Effusions Complications and possible therapy

Within hours Decreased Ground-glass granular

Term Cesarean section 24-48 h Increased Interstitial edema

Post-term meconium-stained fluid below the vocal cords 12-24 h Increased Coarse, nodular, asymmetrical

Premature rupture of membranes Onset < 6 h Increased Perihilar “streaking”

Yes None

No Persistent fetal circulation, extracorporeal membrane oxygenation (ECMO)

Maybe Sepsis, ECMO

No Pulmonary interstitial emphysema or pneumothorax, respiratory distress syndrome, patent ductus arteriosus

From Blickman JG, Parker BR, Barnes PD: Pediatric radiology: the requisites, ed 3, Philadelphia, 2009, Mosby Elsevier.

• Anterior mediastinum (the four T’s and a C) • Thyroid (ectopic thyroid) • “Terrible” lymph node enlargement by either infection or malignancy • Teratoma • Thymoma • Cystic hygroma (lymphatic malformation) • Middle mediastinum (an abnormality for each organ) • Esophagus: Duplication cysts • Great vessels: Aneurysmal dilatation • Hila: Enlarged lymph nodes (leukemia, lymphoma, tuberculosis, etc.) • Trachea: Bronchogenic cysts • Pericardium: Cyst • Posterior mediastinum • Tuberculosis (Pott disease) or any spinal infection • Extramedullary hematopoiesis (almost always in adults) • Neural tumors: Neuroblastoma, ganglioneuroma, neu­ rofibroma, neurenteric cyst Tips when viewing mediastinal masses include the following: (1) middle mediastinal masses silhouette the heart border and aorta; and (2) posterior mediastinal masses may spread the ribs or cause vertebral changes.

Abdominal Radiograph The abdominal x-ray is the initial examination in the workup of abdominal and pelvic symptoms, and may provide useful information for tailoring the examination to the individual patient’s problem. Supine and upright radiographs are obtained, although left lateral decubitus views are used in newborns and in ill or uncooperative patients. Single supine examinations may be obtained when the clinical suspicion is constipation or foreign body ingestion or if the examination is being performed for tube or catheter localization. On a cross-table lateral view it may be difficult to differentiate intraluminal air from extraluminal air, and decubitus or upright views are more useful in that context. Abdominal Radiograph: Child versus Adult The liver takes up a relatively larger space in the peritoneal cavity of a child. The spleen may not be visible and usually does not displace the gastric contour in a child. Likewise, retroperitoneal fat “stripes” (psoas shadows) are frequently not seen on a child’s radiograph because of the relative paucity of fat in the infant’s and small child’s retroperitoneum. The lack of fat in the capsules of the solid organs makes evaluation of their size nearly impossible on radiographs. In contrast,

properitoneal fat stripes are visible from infancy. A soft tissue pseudomass in the abdomen may be the urinary bladder, the fluid-filled stomach or intestine, or an umbilical hernia. Child­ ren up to the toddler age group typically have air throughout the entire gastrointestinal (GI) tract. Bowel Gas after Birth Newborns should have air in the stomach at birth, consisting mainly of swallowed air. The small bowel should be filled with air by 6 hours at the latest; the colon by 12 hours; and by 24 hours of life air should appear in the rectum, although rectal air is typically present much earlier (by 12 hours). A prone film is frequently helpful because air rises into the rectum when obstruction is not present. The normal newborn abdomen demonstrates monotonous polygons of gas. In neo­ nates and infants it is often impossible to reliably differentiate small from large bowel except for stomach and rectum, espe­ cially if the bowel becomes dilated. Absence of air in the stomach at 1 hour of life should raise the possibility of esophageal obstruction: esophageal atresia (EA) without tracheoesophageal fistula, or EA with fistula between proximal esophagus and trachea. A gasless abdomen in an infant for more than 12 hours indi­ cates a serious disease. The most common cause of a lack of intestinal air in the newborn is depression of crying and swal­ lowing in ill babies, especially those with newborn lung disease. Other causes of a gasless abdomen are vomiting, medication that decreases peristalsis, obstruction of a fluidfilled bowel, peritonitis, ascites, and congenital diaphragmatic hernia (a chest radiograph is diagnostic). Other causes of disturbed swallowing and/or diminished peristalsis include septicemia, metabolic disorders, and fatigue. The neonate in whom an orogastric or nasogastric tube has been placed may have a relatively gasless abdomen without other underlying pathology. Absence of meconium passage by 24 hours is abnormal, and abdominal distention or marked dilatation of any viscus in the first day of life should lead to further imaging evaluation. Umbilical Venous and Arterial Lines The ideal location for the tip of the umbilical venous line is in the right atrium. The umbilical arterial line tip may be at L4 to L5 (bifurcation of the aorta) or at T8 above the dia­ phragm (Fig. 24-15, C). The course of the umbilical venous line is as follows: umbilical vein → umbilical recess → left portal vein → ductus venosus → inferior vena cava → right atrium (Fig. 24-15, A). The umbilical arterial line dips inferi­ orly in the umbilical artery to join the internal iliac artery (creating a deep loop in the pelvis) and then rises posteriorly in the abdominal aorta (Fig. 24-15, B). The lateral view (not

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Cranial portion of the inferior vena cava

Right hepatic vein Ductus venosus

Inferior vena cava

Left portal vein

Right portal vein Umbilical recess Portal vein

A

Umbilical vein Ascending aorta Right coronary artery Thoracic aorta (T9 level) Splenic artery Inferior phrenic artery Proper hepatic artery Celiac trunk Gastroduodenal artery

Superior mesenteric artery Inferior mesenteric artery Level of aortic bifurcation Common iliac arteries

Umbilical arteries External iliac arteries

B

Internal iliac arteries

C

Figure 24-15  A, Postmortem demonstration of the umbilical recess with its junction to the ductus venosus and the left portal vein. Twin premature, 27 weeks of gestation, deceased on the first day of life. B, Male term newborn. Postmortem normal angiography. The angle between the umbilical arteries and the internal iliac arteries may make catheterization via the umbilical artery more difficult. C, Supine radiograph of the abdomen of a 3-day-old newborn shows the umbilical venous line (blue arrow) with the tip in the right atrium, and the umbilical arterial line (red arrow) with the tip in the aorta at T8. Arrowhead, nasogastric tube. (A and B, From Hilton SvW, Edwards DK III: Practical pediatric radiology, ed 3, Philadelphia, 2006, Elsevier Saunders.)



shown) confirms which catheter is arterial (equivalent to pos­ terior) and which is venous (equivalent to anterior). Adynamic Ileus Ileus should be suggested only when loops of intestine are dilated. The presence of air in normal-caliber large and small bowel is a common and normal finding in newborns and infants. In adynamic (without peristalsis) ileus (distention), the small bowel is less distended than the colon, and there is gas in the rectum. In infants and older children, adynamic ileus occurs (1) after surgery, (2) with sepsis, (3) with gastro­ enteritis, (4) subsequent to electrolyte disturbances such as dehydration and hypokalemia, and (5) after administration of drugs such as opiates and anticholinergics. Dynamic (Mechanical) Ileus A more uniform, generalized increase in all or parts of the small or large bowel along with multiple air–fluid levels and no air in the rectum denotes mechanical bowel obstruction. The prone film is helpful in directing gas to the rectum for assessment of its caliber when bowel obstruction is a concern; a prone horizontal-beam (cross-table lateral) film of the rectum is helpful in these cases. The most common causes of mecha­ nical obstruction in the neonate are as follows: (1) duodenal atresia or stenosis, (2) malrotation with midgut volvulus, and (3) obstructing peritoneal bands (Ladd bands). Beyond the neonatal period, the most common causes in descending order of frequency consist of (1) appendicitis, (2) intussusception, (3) inguinal hernia, (4) postoperative adhesions, (5) post– necrotizing enterocolitis strictures, and (6) midgut volvulus. In older children, valvulae conniventes and haustral markings may distinguish dilated small bowel and large bowel, respec­ tively, and the distended colon is more peripheral in location than the more centrally located distended small bowel. These findings may not be applicable in the neonate or the child with malrotation and midgut volvulus. Pneumoperitoneum Free air in the peritoneal cavity most commonly results from perforation of a hollow viscus. Large amounts of free air are readily identifiable on supine abdominal radiographs, which may show the presence of the Rigler sign (where both sides of the bowel wall can be visualized), the football sign (where the liver is blacker than the adjacent soft tissues), and visua­lization of the falciform ligament. Small amounts of free air typically require a lateral decubitus or upright view. A cross-table lateral supine view may show a long colonic collection of air mimicking pneumoperitoneum. Perforation of a hollow viscus typically leads to intraperito­ neal air–fluid levels as intraluminal fluid as well as air leaks into the peritoneal cavity. Other causes of pneumoperito­ neum include (1) postoperative air and (2) tracking of air from pneumomediastinum, usually in children undergoing pressure ventilation and in asthmatic patients. The latter condition results when mediastinal air extends into the ret­ roperitoneum and then along the course of the mesenteric vessels, resulting in subserosal air, which can rupture into the peritoneal cavity. It can be differentiated from visceral perforation by the lack of intraperitoneal air–fluid levels on horizontal-beam radiographs. Calcifications The abdominal radiograph can be used to assess calcifications, which may be present in meconium peritonitis; abdominal masses such as hepatoblastoma; and stones in the gallbladder, urinary tract, pancreas, or appendix. A phlebolith in an infant is definitely abnormal; it occurs far more often in adults.

24  |  Fundamentals of Pediatric Radiology

973

Musculoskeletal System Radiography remains the primary method of detecting and analyzing skeletal abnormalities. Most fractures and congeni­ tal deformities are sufficiently imaged by radiography without the need for additional imaging. The spatial resolution of radiography is superior to that of all other modalities. Radiog­ raphy is cost-effective and radiation exposure to the patient is minimal. Radiographs often guide the selection of additional imaging modalities. Adequate radiography must include imaging in at least two perpendicular directions. The skeletal survey remains an important component in the evaluation of many patients with a skeletal dysplasia or syn­ drome and in suspected victims of child abuse. However, these surveys have largely been replaced by technetium-99m methy­ lene diphosphonate (MDP) nuclear scintigraphy for the detec­ tion of metastatic disease to the skeleton. Positron emission tomography (PET) and/or whole body MRI may soon supplant scintigraphy for this function. Surveys for malignant disease are particularly useful in Langerhans cell histiocytosis when the isotope scan may be unremarkable. Radiographs are less relevant to the study of soft tissues because of their narrow contrast range, but plain films can depict calcifications, fat, gas, or foreign material within a soft tissue lesion, and can show the effect of the lesion on the adjacent bone. Anatomy Bone develops by intramembranous (flat bones) and endo­ chondral (long bones) ossification. The long bone of a child is made up of four parts: the physis, or growth plate, and the epiphysis, metaphysis, and diaphysis. Each long bone (humerus, tibia) has a physis, and thus metaphyses and epiph­ yses, on either end. A secondary ossification center appears in the epiphysis after birth. Some long bones (e.g., the femur) have a nonarticulating apophysis, which is similar to the epiphysis but does not contribute to the length of the bone (e.g., the greater trochanter of the femur). In the growing child’s skeleton, blood supply is primarily to the metaphysis, and many of the disease processes and imaging findings are seen in this region. For example, hematogenous osteomyelitis is visible most often in the metaphysis; similarly, metastases travel hematogenously to the metaphysis. The child’s bones are still growing, developing, and model­ ing; therefore, many ossification centers are constantly appear­ ing and fusing with the main skeleton. For example, the mnemonic “CRITOE” refers to the approximate age of ossifica­ tion of secondary centers in the elbow: capitellum (1 year), radial head (4 years), inner (medial) epicondyle (7 years), trochlea (10 years), olecranon (10 years), and external (lateral) epicondyle (11 years). In children the periosteum is less firmly attached to the diaphysis (or shaft) of the long bone and is more likely to tear and thus be elevated by trauma or hematoma formation. The periosteum reacts by laying down a thick layer of new bone. In contrast, the periosteum at the ends of the long bones is not loosely attached but rather firmly adherent to the meta­ physeal regions. Shaking injuries here cause avulsion of a piece of bone from the metaphysis. This type of “buckethandle” injury or avulsion “corner fracture” is commonly found in cases of child abuse (see Chapter 6). Trauma The commonest indication for radiography is the assessment of trauma. As a general rule, two orthogonal views are obtained to assess for fracture. When imaging a long bone, both the

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

proximal and distal joints must be included so that the entirety of the bone is imaged. Contralateral comparison views are not routinely obtained, but frequently aid in differentiating normal developmental variation from pathology. Comparison views are most helpful in areas of complex anatomy, such as the elbow with its six ossification centers. Normal variants are common and may mimic a fracture. The child’s bones are more plastic and less brittle than adults and so pediatric fractures differ from adult fractures. The greenstick fracture is characterized by a bowed long bone with a break on the convex surface but apparent cortical con­ tinuity on the concave surface. In the torus fracture there is buckling on one side of the cortex. Some fractures are more prevalent in different age groups. For example, infants previously able to walk may suddenly limp because of a subtle spiral fracture of the tibia (a toddler’s fracture). This fracture can be difficult to see on initial films. If there is suspicion that a fracture has occurred but none is definitely identified, repeat films in 7 to 10 days, or a bone scan may help. Periosteal reaction around a fracture indicates healing, and means that the injury is certainly more than several days old. Periosteal reaction, with the exception of so-called physi­ ologic appositional new bone found symmetrically in infants 2 to 6 months of age, should be regarded as abnormal. The normal physiologic periosteal bone deposition is bilaterally symmetrical and found in the humeri, femora, and tibias and extends to the metaphysis but no further. The periosteum is normally not seen. Causes of periosteal reaction include (1) infection; (2) trauma; (3) metabolic origin (rickets, scurvy); (4) tumors (osteosarcoma, Ewing sarcoma, histiocytosis); (5) idiopathic origin (Caffey disease); and (6) iatrogenic/toxic origin (pros­ taglandin, hypervitaminosis A). If a fracture involves a joint then a joint effusion (particu­ larly in the knee or elbow) is a useful sign indicating that a fracture may have occurred. At the elbow a joint effusion most likely indicates that a supracondylar fracture (younger child) or radial neck fracture (older child) has occurred. Fractures involving the growth plate are called Salter-Harris fractures and carry a prognostic rating according to the sever­ ity of the growth plate injury (types I to V, with type V being the worst; see Chapter 21, Fig. 21-37). Severe length discrepan­ cies and other growth disturbances can occur from fractures in these regions. The skeleton of children is unique in that it has a low inci­ dence of dislocations of otherwise normal joints as compared with the adult skeleton. Because children’s capsular and liga­ mentous structures are two to five times stronger than the weakest part of the growth plate, the growth plate fractures first, and dislocation occurs less frequently. The zone of cal­ cifying cartilage is the weakest portion of the growth plate. Nonaccidental Trauma (Child Abuse) If the imaging findings are suspicious, it is the radiologist’s legal obligation to report these findings as compatible with child abuse. Usually, reporting the findings to the referring (pediatric) clinician, either in the report or via telephone (preferable), is sufficient. See Chapter 6 for an in-depth discus­ sion of nonaccidental trauma. Skeletal Dysplasia With the short stature of the pediatric age group, it is crucial to clinically determine whether the skeletal dysplasia involves proportionate or disproportionate short stature. The differen­ tial diagnosis of proportionate short stature consists of

constitutional delay, familial short stature, a small group of endocrinopathies, and some dysmorphology syndromes. A left hand-and-wrist radiograph for bone age determination is required. For the bone age to be considered normal, it should lie within 2 standard deviations of the patient’s chronologic age. Most of the bone dysplasias result in clinically dispropor­ tionate short stature. The skeletal survey for dysplasia need only include the limbs on one side of the body. See Chapter 21 for an in-depth discussion of skeletal dysplasias. Bone Tumors Clear radiographic signs of a benign lesion include sharp demarcation between the lesion and the normal bone, a scle­ rotic margin around the lesion, and a nonaggressive pattern of growth. The characteristics most often associated with a malignancy include an accompanying soft tissue mass; peri­ osteal reaction; an indistinct zone of demarcation between the normal and abnormal bone; and permeative, destructive changes in the bone. Plain film radiography is usually ade­ quate to diagnose most benign tumors. MRI is the modality of choice to define the extent of the abnormality once a malig­ nant bone lesion has been suggested. Bone Infection The clinical symptoms of osteomyelitis precede the radio­ graphic findings by 7 to 14 days. For this reason a radioisotope study or MRI is frequently more helpful in the early diagnosis of acute osteomyelitis. The radiographic findings of acute osteomyelitis (0 to 2 weeks) include (1) soft tissue swelling initially; (2) loss of cortical margin; (3) focal demineralization of bone; and (4) faint periosteal new bone formation (7 to 14 days after onset). The radiographic findings of the healing phase (>4 weeks) include (1) destroyed bone with irregular areas of sclerosis and lysis; (2) sequestrum, that is, a dense devascularized bone fragment within an area of pus and granulation tissue; and (3) involucrum, that is, a peripheral shell of supporting bone laid down by the periosteum around the old disease. Chronic osteomyelitis (either unusual localized osteo­ myelitis or improperly treated) appears as (1) diffuse bone production with little or no destruction, and (2) an occasional draining sinus or lucent area in the midst of the sclerotic bone.

FLUOROSCOPY Introduction Indications, Contraindications, Advantages, and Disadvantages of Fluoroscopy in Pediatric Imaging For a summary of the indications, contraindications, advan­ tages, and disadvantages of fluoroscopy in pediatric imaging, see Table 24-5. Fluoroscopic Contrast Agents For a summary of fluoroscopic contrast agents, see e-Table 24-4.

Clinical Applications Diaphragm Paralysis In diaphragm paralysis, fluoroscopy is reserved for patients in whom ultrasound (US) has been unsuccessful or has given results contrary to the clinical impression, such as when the

Laryngomalacia Tracheomalacia Vocal cord paralysis Diaphragm paralysis

Airway/chest (noncontrast)

Acute UTI Prophylactic antibiotics warranted in patients with congenital heart disease Latex avoidance in patients at risk for latex allergy

Contrast allergy Renal insufficiency or failure

To avoid perforation, contrast enemas are relatively contraindicated in patients with necrotic bowel, toxic megacolon, pneumatosis intestinalis, or peritonitis In patients with known bowel perforation or recent surgery, water-soluble contrast is preferred over barium In neonates and infants at risk for dehydration, iso-osmolar water-soluble contrast or barium is preferred over hyperosmolar water-soluble contrast Bowel perforation

Allows dynamic assessment of oropharyngeal motility (not included in standard UGI series) Noninvasive Requires no sedation

Examination should be terminated if severe aspiration occurs Because of a high risk of aspiration in population studied, barium is the contrast agent of choice Hyperosmolar water-soluble contrast is contraindicated Same as for UGI series

Minimally invasive More sensitive to grade 1 vesicoureteral reflux than nuclear cystography Provides better anatomic resolution than nuclear cystography

Minimally invasive

Advantage over contrast enema: Smaller tears and reduced fecal spillage when bowel perforation occurs

Allows assessment of small bowel distal to duodenal–jejunal junction (not included in UGI series) Noninvasive (or minimally if feeding required) Requires no sedation Minimally invasive Requires no sedation

Noninvasive (or minimally invasive if feeding tube required) Widely available Dynamic Requires no sedation

Noninvasive

Advantages

Hyperosmolar water-soluble contrast is contraindicated in patients with reflux or tracheoesophageal fistula Barium is contraindicated in patients with perforation or leak

None Widely available Dynamic Requires no contrast or sedation

Contraindications/Precautions

Results in radiation exposure Requires intravenous contrast Less sensitive than CT for calculi Results in more radiation exposure than nuclear cystography

Disadvantage over contrast enema: Slightly higher rate of bowel perforation

Requires radiation exposure (often more than for UGI series) Requires contrast/food ingestion and patient cooperation Must be scheduled in advance to ensure simultaneous radiologist and speech pathologist availability Requires radiation exposure (more than for UGI series alone) Requires ingestion of contrast or tube feeding Requires brief immobilization of uncooperative children May take several hours to complete Requires radiation exposure Requires rectal tube Requires brief immobilization of uncooperative children

Radiation exposure Requires ingestion of contrast or tube feeding Requires brief immobilization of uncooperative children

Radiation exposure Requires brief immobilization of uncooperative children

Disadvantages

24  |  Fundamentals of Pediatric Radiology

CT, computed tomography; UTI, urinary tract infection. *Precaution: A manometer and pop-off valve must be used to keep intraluminal pressure below 120 mm Hg; intravenous access and surgical back-up must be secured before the procedure is begun. From Osborn LM, DeWitt TG, First LR, et al, editors: Diagnostic imaging (CD-ROM, T 272-1: Indications, contraindications, advantages and disadvantages of fluoroscopy). In Pediatrics, Philadelphia, 2005, Mosby Elsevier.

Urinary tract infection Hydronephrosis or hydroureter Vesicoureteral reflux Enuresis Cloacal and/or anorectal malformations Ambiguous genitalia Neurogenic bladder Posterior urethral valve Other urethral anomalies (i.e., stricture, polyp)

Urinary calculi

Contrast Urography Intravenous urography

Voiding cystourethrography

Intussusception

Small bowel obstruction, pseudo-obstruction, or atresia Malabsorption or immune deficiency Inflammatory bowel disease Mass Short-gut syndrome Distal small bowel obstruction Colonic atresia Microcolon Meconium plug Meconium ileus or equivalent Hirschsprung disease Assessment of postoperative anatomy Inflammatory bowel disease Polyposis or colonic mass

Air enema

Air-contrast enema

Contrast enema* (single contrast)

Small bowel series

Gastrointestinal Tract (Contrast-Enhanced) Upper gastrointestinal Vascular ring or pulmonary sling (UGI) series Tracheoesophageal fistula Esophageal stricture Hiatal hernia Gastroesophageal reflux Gastritis Peptic ulcer disease Gastric outlet obstruction (sonography favored for hypertrophic pyloric stenosis) Duodenal stenosis or atresia Malrotation/midgut volvulus Oropharyngeal Swallowing dysfunction motility examination

Common Indications

Indications, Contraindications, and Advantages/Disadvantages of Fluoroscopy

Organ System

Table 24-5



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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

US results are normal but the patient cannot be weaned from the ventilator. The movement of the hemidiaphragm is complex. The left hemidiaphragm may occasionally be higher than the right, and inequality of movement is common. The anterior part (dome) is the only part of the hemidiaphragm routinely visua­ lized on frontal fluoroscopy. Lateral or oblique fluoroscopy is often useful but occasionally may be difficult to interpret and can be hazardous to a sick child. Tracheomalacia/Laryngomalacia In the right lateral position the airway is observed for back­ ward bowing of the epiglottis or fluttering of the aryepiglottic folds (laryngomalacia) and tracheal caliber change (tracheo­ malacia) or deviation. Laryngomalacia is noisier on quiet breathing, whereas tracheomalacia is noisier with crying. Upper Gastrointestinal Series and Esophagography For an upper gastrointestinal (UGI) series or esophagography, the patient should have nothing by mouth for 3 to 4 hours (infants) or 6 to 8 hours (older children). Observe swallowing while the child is in the right lateral position. Note sucking, swallowing coordination, nasopharyngeal reflux, vocal cord penetration, or tracheal aspiration. Examine the esophagus for stricture, indentation, fistula, and peristalsis. The aortic arch

and left atrium are often seen as normal indentations. Anterior indentation of the esophagus with soft tissue structure inter­ posed between esophagus and trachea represents a pulmonary artery sling (Fig. 24-16). Posterior vascular indentation repre­ sents an aberrant subclavian artery (see Fig. 24-16). With the child in the right lateral position, the partially filled stomach should be observed until it empties into the duodenum. Gastric size, shape, and emptying should be noted. Duration of gastric emptying is variable in normal infants and children. Elongation of the pylorus combined with the “string sign” indicates pyloric stenosis. Identify the duodeno–jejunal junction (DJJ) position to exclude or confirm malrotation. The normal position of the DJJ is to the left of the spine and at the level of the bulb/pylorus (Fig. 24-17, A). On the lateral view, both the descending (D2) and ascending (D4) segments of the duodenum are retroperitoneal structures (i.e., close to the spine) (Fig. 24-17, B). The DJJ is also pos­ terior in location on the lateral view. Evaluate for gastro­ esophageal reflux (GER). The UGI series has an overall lower sensitivity for reflux (38%, compared with 88% with a radio­ nuclide study). Proximal neonatal bowel obstruction (occurring proximal to the mid-jejunum) includes midgut volvulus (Fig. 24-18), duodenal atresia, duodenal stenosis, duodenal web, annular pancreas, and proximal jejunal atresia. Patients usually present with vomiting. Abdominal radiographs demonstrate a few dilated small bowel loops.

Figure 24-16  Four patterns of vascular compression anomalies on the trachea and esophagus. Lateral projections are shown. A, Double aortic arch or right aortic arch with aberrant left subclavian artery. B, Innominate artery compression. C, Left aortic arch with aberrant right subclavian artery. D, Pulmonary sling. (Modified from Berdon WE, Baker DH: Vascular anomalies and the infant lung: Rings, slings, and other things, Semin Roentgenol 7:39-64, 1972.)

Trachea Esophagus

A

B

C

D

24  |  Fundamentals of Pediatric Radiology



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Figure 24-17  Upper gastrointestinal (UGI) study demonstrating normal duodenal course in a 3-year-old. A, Anteroposterior projection: the duodeno–jejunal junction (arrow) is at the level of the duodenal bulb and to the left of the left spinal pedicle. 1, duodenal bulb; A, antrum; B, body; F, fundus. B, Lateral projection: Note the four portions of the duodenum (1, 2, 3, 4). The second, third, and fourth portions of the duodenum are posterior, within the retroperitoneum. Slight obliquity allows visualization of both the descending (2) and ascending (4) duodenum. A, antrum.

Diagnostic Contrast Enema Diagnostic contrast enema is performed to identify causes of lower GI bleeding (i.e., polyps), small bowel obstruction (i.e., intussusception or distal bowel atresia), and complica­ tions of inflammatory disease (i.e., post–necrotizing enteroco­

Figure 24-18  Upper gastrointestinal (UGI) study in a 6-day-old showing malrotation with midgut volvulus. The duodenal sweep fails to cross the midline and assumes a corkscrew appearance (arrow) projecting on the right side of the spine.

litis strictures), and to evaluate functional abnormality (i.e., Hirschsprung disease) or colonic anomaly (i.e., imperfo­ rate anus before complete repair). A UGI study is preferred for evaluation for malrotation because contrast enema will miss the diagnosis in 20% of cases (because the cecum is malpositioned in 80% of patients with malrotation and is normally located in the right lower quadrant in the remainder of patients). Low neonatal bowel obstruction (involving the distal jejunum, ileum, or colon) includes meconium ileus, ileal atresia, Hirschsprung disease, and meconium plug syndrome (Fig. 24-19). Patients present with abdominal distention and failure to pass meconium. Barium or water-soluble contrast (osmolality, 600 mOsm/kg; diluted 1 : 1 in water) is used. Mucosal detail depicted with barium is better than that shown by water-soluble contrast. In the setting of Hirschsprung disease, barium can harden and remain in the colon as a barium ball. Barium can cause scarring when extravasated into the peritoneal cavity; there­ fore it is contraindicated in potential GI leak and after recent GI surgery. Water-soluble contrast material can soften meco­ nium plugs and can be used to treat meconium ileus. Admin­ istration of barium into the GI tract can interfere with subsequent CT scans of the abdomen or with nuclear studies of the genitourinary (GU) or GI system, such as a Meckel scan. If an abdominal CT scan is contemplated, a barium swallow or UGI series should follow the CT scan, rather than vice versa. The caliber of the rectum should be compared with that of the sigmoid colon. Normally, the rectum is larger than the sigmoid colon, for a rectosigmoid ratio greater than 1

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A Normal neonatal colon

B

Hirschsprung disease

D Neonatal small left colon syndrome

C

Microcolon

E Meconium plug syndrome

Figure 24-19  A-E, Schematic representation of mechanical and functional obstruction in the neonatal period. (From Hilton SvW, Edwards DK III: Practical pediatric radiology, ed 3, Philadelphia, 2006, Elsevier Saunders.)

(in Hirschsprung disease, the rectum typically is smaller than the sigmoid). Reduction of Intussusception Fluoroscopy-guided air or water-soluble contrast reduction of intussusception is the treatment of choice after sonographic confirmation (see Ultrasound, later). Contraindications to reduction include peritonitis, pneumoperitoneum, shock, and sepsis. The choice of enema medium depends on the radio­ logist’s preference. At present, an air enema is considered superior at reduction, cleaner (based on the appearance of the peritoneal cavity at surgery when perforation occurs), faster, with less radiation when compared with a liquid enema. A water-soluble enema is recommended for infants less than 6 months of age. Barium is no longer the liquid contrast medium of choice for intussusception reduction because of the risk of barium peritonitis, infection, and adhesions if perforation occurs during the enema. Radiologists should strive for enema reduction rates of 80%, but it will depend on their patient population. Neither sedation nor medications increase the enema success rate. Predictors of failure of pneumatic reduction include ileoileocolic intussusception (27%), long duration of symptoms (>2 days), and performance following failed hydrostatic reduction. The perforation rate is about 0.8% and will require immediate surgical intervention. Reduction should not be attempted without surgical back-up, and all children should have surgical consultation before enema. Some reports estimate that the rate of spontaneous reduction based on sonographic and/or enema diagnosis before surgery is 10%.

Insufflated air rapidly fills the colon and outlines the head of the intussusception. Air pressure should be kept below 120 mm Hg to avoid the risk of perforation. Reduction is defined as complete elimination of the intussusceptum through the ileocecal valve and free reflux of air into the distal small bowel (Fig. 24-20). Perforation complicating air enema may cause tension pneumope­ ritoneum; some centers advise having an 18-gauge needle readily available in the fluoroscopy room for emergency decompression. The recurrence rate is 10% postreduction. There is no contraindication to again reducing the intussusception by an enema procedure. Many centers refer patients to surgery after more than three recurrences in order to evaluate for underlying pathologic lead points (PLPs). Approximately 5% to 6% of intussusceptions in children are caused by PLPs, which are due to either focal masses or diffuse bowel wall abnormality. The most common focal PLPs are (in decreasing order of incidence) Meckel diverticulum, duplication cyst, polyp, and lymphoma. Diffuse PLPs are most commonly asso­ ciated with cystic fibrosis or Henoch-Schönlein purpura. The rate of detection of PLPs by US, liquid enema, and air enema is 66%, 40% and 11%, respectively. Contrast Enema Reduction of Meconium Ileus Uncomplicated by Bowel Atresia, Perforation, or Volvulus Contrast enemas may be used for reduction of uncomplicated meconium ileus (see Fig. 24-19, C). The study should be per­ formed in conjunction with a pediatric surgeon.

24  |  Fundamentals of Pediatric Radiology



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Figure 24-20  Ileocolic intussusception in the proximal transverse colon of a 2-year-old. A, Ultrasound shows the characteristic “target sign” on transverse section (hypoechoic ring with an echogenic center). B-D, Air enema reduction: B, Intussusception (*) is initially located in the right upper quadrant; C, intussusception (*) has moved retrograde and is now in the region of the ileocecal valve; D, successful reduction with resolution of the soft tissue mass and reflux of air into the terminal ileum.

Contrast Enema for Hirschsprung Disease No preparation of the colon is necessary when performing contrast enema for Hirschsprung disease. Recent manipulation including rectal examination or rectal thermometry shortly before contrast enema can make diagnosis more difficult by decompressing the distended colon. Normally, the rectum is larger than the sigmoid colon (in Hirschsprung disease, the rectum typically is smaller than the sigmoid). Identify a transi­ tion zone between the narrowed distal aganglionic segment and the dilated proximal, normal colon. Although contrast enema remains a useful test, suction biopsy provides defini­ tive diagnosis. Voiding Cystourethrography Wash the external genitalia with antiseptic solution. For male patients, squirt lidocaine (Xylocaine viscous 2%) into the penile meatus to locally anesthetize the urethra and make

catheterization less painful. Catheterize the urethra with an appropriately sized catheter (5-French feeding tube for new­ borns and young infants or girls less than 2 to 4 years of age, 8-French feeding tube for older children, 10- to 12-French rubber catheter for teenagers). Under fluoroscopic guidance, the bladder is filled with iodinated contrast. The size, shape, and capacity of the bladder are noted, and the dome of the bladder is examined for irregularities, the presence of filling defects (mass or ureterocele), or sinus tract (urachal remnant). While on the fluoroscopy table, the patient is asked to void (Fig. 24-21). As the child voids, the caliber of the urethra and dilatation of the posterior urethra are noted (Fig. 24-22), as well as caliber change and completeness of voiding. The pre­ dicted bladder capacity (in milliliters) for children younger than 1 year is the child’s weight in kilograms multiplied by 7. In children older than 1 year, the predicted capacity is the child’s age in years plus 2, multiplied by 30.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Ureter Ductus deferens Seminal vesicle

Bladder

Membranous urethra

Prostatic utricle Prostate Opening of ejaculatory duct

Bulbous urethra

Opening of prostatic ducts

Corpus cavernosum Penile urethra

Cowper’s gland

Urogenital diaphragm

Corpus spongiosum

Ductus deferens

is

ym

did

Epi

Glands of Littrè

Testis Opening of Cowper’s glands

Fossa navicularis Figure 24-21  Normal anatomy of the male urethra. A schematic drawing demonstrates the anatomy of the male urethra and its relationship with periurethral structures. (From Kim B, Kawashima A, LeRoy AJ: Imaging of the male urethra, Semin Ultrasound CT MR 28:258-273, 2007.)

In patients with neurogenic bladder and myelomeningo­ cele, voiding is usually impossible, and detecting reflux is the most important part of the study. In these cases, the bladder is filled to a volume appropriate for age or corresponding to typical volumes obtained during catheterization, with images obtained over the kidneys and ureters to evaluate for reflux. The bladder is then emptied through the catheter.

ULTRASOUND Introduction Advantages of Ultrasound in Pediatric Imaging Ultrasound presents the following advantages in pediatric imaging: 1. No ionizing radiation is used Figure 24-22  Voiding cystourethrogram (VCUG) in a 1-day-old boy. Lateral view during voiding after catheter removal demonstrates the posterior urethral valve as a lucent line (arrow) separating the dilated posterior urethra (P) from the distal urethra. Note the trabeculated thick-walled bladder (B).

2. Real-time image acquisition is possible, allowing a study to be performed in uncooperative or crying patients without the need for sedation 3. Small patient size results in improved image quality

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Figure 24-23  Ultrasound image orientation of the right kidney of a 2-day-old male in the supine position. A, Sagittal plane. B, Transverse plane. D, diaphragm; L, liver; RA, right adrenal; RK, right kidney; S, spine; T, transducer. Note the normal undulating contour of the right kidney secondary to fetal lobulation and the corticomedullary differentiation with hypoechoic renal pyramids. The right adrenal gland is Y-shaped with a bright (echogenic) center and dark (hypoechoic) cortex. The diaphragm appears as a curvilinear echogenic structure.

4. Imaging can be performed in any plane 5. The equipment is portable, allowing the study to be per­ formed at the bedside or in the operating room 6. It is relatively inexpensive compared with CT and MRI and therefore can be used in screening and in multiple follow-up studies Disadvantages Ultrasound presents the following disadvantages in pediatric imaging: 1. Ultrasound is operator dependent and therefore should be performed by a well-trained technologist (sonographer) and reviewed by a radiologist (sonologist) before the study is terminated 2. Deep structures are poorly visualized in obese patients 3. Sound penetrates poorly in air-filled viscera and bones Image Orientation By convention, when images are acquired in the supine posi­ tion, the US transducer (or probe) should be held such that the right or cranial portion of the body is viewed on the left side of the image (Fig. 24-23). Physics Ultrasound is sound above the audible range, that is, greater than 20 kilohertz (kHz). Diagnostic US frequency ranges between 1 and 20 megahertz (MHz). The speed of sound in soft tissue is 1540 m/second. Various frequency probes are available: the higher the frequency of the probe the better the resolution, but the less the depth of tissue that can be imaged. Depth indicates the distance from the transducer surface to the body part of interest. The transmitted sound wave is reflected at interfaces of different acoustic impedance. The reflected sound creates a structure and contrast between different tissues and allows a

two-dimensional image to be formed. Three-dimensional US is available and is useful in echocardiography and fetal imaging. Dense structures such as bone, calcifications, and surgical clips/vascular coils within organs will not allow sound to pass through them (absorb sound totally) and appear bright (hyper­ echoic) with an acoustic shadow behind them (Fig. 24-24, A). Cystic structures are dark with no internal echoes (anechoic); very little sound is absorbed, leading to the opposite effect with increased through-transmission of the sound waves, that is, increased signal behind them (Fig. 24-24, B). Solid struc­ tures produce internal echoes of variable intensity (ranging from hypoechoic to echogenic). An interface between soft tissue and air will cause total reflection of sound so that the deeper structures cannot be imaged, resulting in an acoustic shadow (Fig. 24-24, C). Good transducer–skin contact, using a US coupling gel, is necessary to generate an image. Doppler imaging: The Doppler technique relies on fre­ quency data. Sound reflected from a moving target (e.g., red cells in a blood vessel) undergoes a change in frequency. The difference between the transmitted and the received frequen­ cies is the Doppler shift. If the US beam strikes a reflector moving toward it, the reflected sound will have a higher fre­ quency and shorter wavelength than the original beam. If the US beam strikes a reflector moving away from it, the reflected sound will have a lower frequency and longer wavelength than the original beam. Duplex Doppler ultrasonography uses the gray-scale image as a road map; Doppler interrogation of a blood vessel in the image can then be performed by positioning a cursor within the vessel. The Doppler waveform depicts the relationship between velocity and time and is unique to the flow pattern within the vessel. Color flow Doppler assigns red and blue colors to vessels according to their flow toward or away from the transducer, respectively (Fig. 24-25). Arterial flow indexes: The resistive index (RI; or Pourcelot index) is a popular parameter that is altered by vascular resis­ tance and vascular compliance. The pulsatility index (PI) is a measure of the variability of blood velocity in a vessel (e-Fig. 24-4).

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A

C

B

Figure 24-24  Ultrasound image characterization. A, Gallstone (s) in the neck of the gallbladder (GB) with “acoustic shadowing” posterior to it (arrows). B, Liver cyst (C) reveals “increased through-transmission” of the sound waves as a bright band posterior to the cyst (arrows). C, Bowel gas (BG) in a right upper quadrant bowel loop causing “dirty” acoustic shadowing (arrows); this explains why excessive bowel gas can limit the quality of the study by obscuring the deep structures. L, liver.

Figure 24-25  Direction of blood flow in the left kidney as indicated by color Doppler imaging. Flow in the main renal artery (A) is directed toward the transducer (T) and is thus red. Color flow is blue in the main renal vein (V), as it is directed away from the transducer. AO, abdominal aorta; IVC, inferior vena cava.

24  |  Fundamentals of Pediatric Radiology



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Figure 24-26  Acute bacterial pyelonephritis. A, Ultrasound (US) scan shows a wedge-shaped hyperechoic focus (arrowhead) in the upper pole of the right kidney related to acute bacterial pyelonephritis. B, Color flow US image demonstrates diminished flow through the involved area. (From Craig WD, Wagner BJ, Travis MD: Pyelonephritis: Radiologic–pathologic review, Radiographics 28:255-276, 2008.)

Power Doppler: The power Doppler technique measures the density rather than the velocity of the red blood cells in the sample area. The amplitude of the signal depends on the blood within the sample volume. Large-amplitude signals appear as a bright color and weak signals as a dim color. The tech­ nique is also called US angiography, as it gives a detailed road map to blood flow in an organ. The technique is three times more sensitive than conventional Doppler and shows smaller blood vessels at deeper depths. It also provides better edge enhancement of blood vessels. The main disadvantage is the inability to provide functional information such as direc­ tion of flow and flow velocity measurements. In acute bacte­ rial pyelonephritis, a positive power Doppler US finding (area of hypoperfusion) can obviate the need for further imaging, that is, 99mTc-dimercaptosuccinic acid (DMSA) scintigraphy (Fig. 24-26). Selected topics of pediatric US are described later (e-Table 24-5).

Chest Ultrasound Thymus Ultrasound is useful to confirm that a widened mediastinum is due to a normal thymus, particularly when the child pre­ sents with stridor thought to be due to airway obstruction. The thymus has a homogeneous fine granular echo texture that is slightly more echogenic than the liver, and less echo­ genic than the thyroid. It passes from right to left across the anterior mediastinum in front of the great vessels, which are not compressed. Neck and Superior Mediastinal Masses Ultrasound can assess the consistency of neck and superior mediastinal masses, whether cystic or solid. Pleural Effusion Ultrasound is useful in the assessment of the radiopaque hemithorax. A peripheral pneumonia may appear as a hypoechoic area in the air-filled lung. A parapneumonic effu­ sion appears as anechoic fluid in the costophrenic recess (eFig. 24-5). A complicated effusion and/or empyema shows pleural thickening, septations, fibrin strands, and hyperechoic debris. Diaphragmatic Motion In unilateral diaphragmatic elevation, US can differentiate between a subphrenic mass or fluid collection, subpulmonary pleural effusion, or impaired diaphragmatic excursion.

Diaphragmatic paralysis may be due to damage to the phrenic nerve during a difficult delivery or after a surgical procedure. US can assess paradoxic or asymmetrical diaphragmatic move­ ment with respiration. This is best evaluated in the transverse plane, which allows simultaneous visualization of both hemidiaphragms. Neck Vessels Venous duplex US is performed to assess vascular access before major surgeries. It can also detect venous clots, particu­ larly in the presence of central lines. Echocardiography Cardiac US is performed in the pediatric cardiology echocar­ diography laboratory and is useful in the assessment of cardiac morphology and function in congenital and acquired heart disease. It is the first-line modality before cardiac catheteriza­ tion, CT, or MRI.

Abdominal and Retroperitoneal Ultrasound Abdominal Mass Ultrasound will characterize an abdominal mass whether it is cystic or solid. US has high sensitivity for the detection of a primary abdominal mass in patients with neuroblastoma, given the large mean diameter of the tumor (6 to 8 cm). US cannot reliably identify local tumor extent; it has limited value in demonstrating the extent of vessel encasement, involve­ ment of the retroperitoneal and retrocrural nodes, and intra­ spinal tumor extension compared with CT and MRI. Ultrasound is the initial imaging modality in the evaluation of suspected Wilms tumor; US confirms the renal origin of the mass (mean diameter, 5 to 10 cm) and evaluates patency of the renal vessels and inferior vena cava. CT is the next imaging study of choice, as it can also demonstrate small lesions in the opposite kidney and liver metastases that may be missed by US as well as pulmonary metastases. Ultrasound is the initial examination of choice in confirm­ ing the presence and character of a suspected hepatic mass. This is followed by CT or MRI to further characterize the lesion and determine its extent and resectability. Ascites Ultrasound of the four quadrants of the abdomen and pelvis is sensitive for localizing peritoneal fluid. Uncomplicated ascites is anechoic. Internal echoes can indicate the presence of blood, exudates, chyle, or neoplastic cells.

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approaching 100% in experienced hands. If positive, a surgical consult should be obtained before the air enema reduction. Risk factors for reduction include free intraperitoneal fluid, bowel obstruction, loss of Doppler flow in the intussusception, and fluid trapped within the colon due to incarceration. US can also assess the presence of a pathologic lead point (PLP) mass and intussusception limited to the small bowel, and can be used to diagnose or exclude residual intussusception after enema.

Figure 24-27  Hypertrophic pyloric stenosis. Longitudinal image shows the thickened pyloric muscle measuring 5.7 mm (yellow arrows) and the elongated pyloric channel measuring 22 mm (red arrows). The redundant pyloric mucosa (blue arrow) protrudes into the gastric antrum (A), forming the antral nipple sign. The arrowheads show the double-track sign.

Abscess In experienced hands and using meticulous technique, US can localize an intraabdominal abscess. There are both more false negatives (due to overlying bowel gas) and more false posi­ tives (fluid-filled bowel loops) with US, and it requires more time and experience than contrast-enhanced CT. Hypertrophic Pyloric Stenosis Ultrasound is the diagnostic study of choice to confirm the diagnosis of hypertrophic pyloric stenosis (HPS). Images are acquired in the right posterior oblique position, which allows fluid in the gastric fundus to flow into the antropyloric area, distending this region. The stomach should not be emptied before the examination, because this makes identification of the antropyloric region difficult. If the antrum does not contain adequate fluid, a glucose solution or water can be given orally or via a nasogastric tube. The sonographic hallmark of HPS is the thickened pyloric muscle, defined as wall thickness equal to or greater than 3 mm, and an elongated pyloric channel, defined as a length equal to or greater than 17 mm as measured on the longitudinal images (Fig. 24-27). Intussusception Intussusception is an invagination of proximal bowel into its distal lumen. The invaginating portion is termed the intus­ susceptum, and the recipient bowel is called the intussus­ cipiens. Approximately 90% of intussusceptions are ileocolic, with the remaining 10% being ileoileal and colocolic (Fig. 24-28). The diagnostic approach should include (1) abdominal radiographs if concern for other diagnoses or for perforation; (2) sonography for diagnosis or exclusion of intussusception. US shows the intussusception as a “donut,” “target,” or “pseudo-kidney” sign, and has high accuracy,

Appendicitis Obstruction of the appendiceal lumen results in distention of the appendix, superimposed infection, ischemia, and eventu­ ally perforation. There is much debate about appropriate imaging algorithms for suspected appendicitis. Some investi­ gators have advocated primary use of US, with CT being performed in equivocal cases. US is much more useful in girls and in patients of thin body habitus than in boys and patients who are obese. In girls, in whom ovarian causes of right lower quadrant pain such as hemorrhagic cyst or torsion are not uncommon, US may be the first test of choice. CT is favored when perforated appendicitis is highly suspected, in evalua­ tion for abscess, in postoperative evaluation, and in obese patients. Technically adequate examinations are achieved in about 95% of patients. Technical failures are caused by the presence of severe pain, marked ascites, or obesity. In the longitudinal plane, the inflamed appendix is a fluid-filled, noncompress­ ible, blind-ending tubular structure with a diameter of 6 mm or more. Other findings include the presence of a shad­ owing echogenic appendicolith; pericecal or periappendiceal fluid (Fig. 24-29); enlarged mesenteric nodes; increased peri­ appendiceal echogenicity representing inflamed fat (termed “phlegmon”); abscess; and wall thickening of the cecum or terminal ileum. In the axial plane, the inflamed appendix has a target appearance. Perforation occurs in 20% to 30% of children with appen­ dicitis. The appendix may disintegrate and hence not be iden­ tifiable on US. In general, the appendix is visible in 40% to 60% of children with perforation. Peritonitis is characterized by dilated bowel loops with thick echogenic walls and ascites, and increased blood flow in the bowel wall as demonstrated by color Doppler imaging. Midgut Malrotation The upper gastrointestinal examination is the imaging study of choice to diagnose malrotation. US is not needed for the diagnosis, but the findings need to be recognized because they may be encountered on examinations performed for other clinical indications. The sonographic diagnosis of midgut mal­ rotation is predicated on identifying the relative positions of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) (anterior and to the right of the artery). Reversal of this relationship, with the SMV positioned to the left of the SMA, suggests midgut malrotation. However, some patients with malrotation have a normal position of the artery and vein, and some patients with reversal of the vessels do not have malrotation. Approximately 15% to 28% of patients with midgut malrotation will have a ventral position of the SMV relative to the SMA (described as an indeterminate pattern). Gastrointestinal Duplication Cysts Duplication cysts are uncommon congenital anomalies result­ ing from abnormal canalization of the GI tract. The most common locations are the terminal ileum, where they lie along the mesenteric border, and the distal esophagus. They are usually round and attached to the GI tract, and the majority of the cysts do not communicate with the GI lumen. They

24  |  Fundamentals of Pediatric Radiology



Normal

985

Ileoileal

Ileoileocolic

Ileocolic

Colocolic

Figure 24-28  Diagrammatic representation of intussusception. (From Hilton SvW, Edwards DK III: Practical pediatric radiology, ed 3, Philadelphia, 2006, Elsevier Saunders.)

have a mucosal lining and about 43% contain ectopic gastric mucosa. A duplication cyst may act as a lead point of an intussusception. US will demonstrate a cystic mass with the typical “bowel wall signature.” It will have an inner echogenic mucosal layer and an outer hypoechoic muscular layer. This is contrasted with the mesenteric cyst wall, which consists of a single layer. Hepatic Vascular Assessment Color Doppler ultrasound is useful in the assessment of liver cirrhosis, portal hypertension, and liver transplantation for intraoperative ultrasound guidance and postoperative

Figure 24-29  Acute appendicitis. A small fluid collection (arrow) is surrounding the tip of the inflamed appendix (asterisk), consistent with perforation.

follow-up. US will assess vascular patency and the direction of flow in the hepatic artery, portal vein, hepatic veins, and inferior vena cava. The normal portal venous flow is hepa­ topetal (i.e., toward the liver) on Doppler US, whereas hepa­ tofugal flow (i.e., away from the liver or reversed flow) is suggestive of portal hypertension. Gallbladder Disease The patient should fast for 6 hours before US examination to allow adequate demonstration of the bile-filled gallbladder. The sensitivity of US for detecting gallstones is greater than 95%. The demonstration of posterior acoustic shadowing cor­ related with cholelithiasis in virtually all patients (see Fig. 24-24, A), whereas nonshadowing echogenic foci may repre­ sent stone disease, polyps, or other masses. US has a sensitivity greater than 90% for the diagnosis of acute cholecystitis. The most common sonographic findings of acute calculus chole­ cystitis include cholelithiasis, an enlarged gallbladder, a thick­ ened gallbladder wall (thickness > 3 mm), localized tenderness (sonographic Murphy sign), sludge, and pericholecystic fluid. The most sensitive criteria for diagnosing acute cholecystitis are gallbladder tenderness in association with stones. Biliary Tree Because of their small size, normal intrahepatic bile ducts and the cystic duct are not routinely seen at sonography. The intrahepatic ducts are considered dilated if their diameter exceeds 2 mm or is more than 40% of the diameter of the adjacent portal vein. The use of Doppler techniques allows a more confident diagnosis of intrahepatic ductal dilatation. The main right and left hepatic ducts join to form the common hepatic duct. The common bile duct extends from the junction of the cystic duct and common hepatic duct to the level of the ampulla of Vater, where it joins the main pan­ creatic duct in 60% to 70% of individuals. In the remainder of individuals, the ducts enter the duodenum separately.

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The upper limits of the common duct should not exceed 1 mm in neonates, 2 mm in infants up to 1 year of age, 4 mm in children 1 to 10 years of age, and 6 mm in adolescents and young adults. The distal portion of the common duct is usually larger than the proximal portion. Ductal size may increase by 1 mm or more during deep inspiration and the Valsalva maneuver. An increase in ductal diameter also occurs after cholecystectomy. About 70% to 80% of cases of neonatal jaundice result from biliary atresia, neonatal hepatitis syndrome, and chole­ dochal cyst. Other biliary abnormalities include bile duct paucity (Alagille syndrome), inspissated bile syndrome, and spontaneous perforation of the extrahepatic bile duct. In older children jaundice is most often due to hepatocellular disease, such as hepatitis and cirrhosis, and less often due to biliary tract inflammation (cholangitis) or obstruction. The causes of obstructive jaundice include choledochal cyst; neoplasms, particularly rhabdomyosarcoma, lymphoma, or neuroblas­ toma; cholelithiasis; and, rarely, stricture. Pancreatitis and Pseudocysts In most patients with mild pancreatitis, the pancreas appears normal on sonography. With more severe disease, a focally or diffusely enlarged pancreas with irregular margins and hypoechoic parenchyma is seen. Pancreatic and common bile duct dilatation are other signs of acute pancreatitis. Pancreatic ducts greater than 1.5 mm in diameter in children between 1 and 6 years of age, greater than 1.9 mm in children aged 7 to 12 years, or greater than 2.2 mm in children aged 13 to 18 years are often associated with acute pancreatitis. Approxi­ mately 50% of children with acute pancreatitis have extrapan­ creatic fluid collections. Pseudocyst formation is the most common complication of acute pancreatitis, requiring 4 to 6 weeks to develop. Cysts are surrounded by thick-walled capsules of fibrous and granu­ lation tissues and lack epithelial lining (hence, they are called pseudocysts rather than true cysts). Unlike acute fluid collec­ tions, which resolve spontaneously, resolution of a pseudocyst is less likely. At sonography, pseudocysts are usually wellcircumscribed, anechoic or hypoechoic masses with throughtransmission. The fluid often contains septations or internal echoes due to debris or hemorrhage. Blunt Trauma Both US and CT are useful in assessing abdominal trauma. The “FAST” (focused assessment with sonography for trauma) technique determines the presence of free intraperitoneal or pericardial fluid in the setting of trauma. The following regions are scanned: (1) the right and left upper quadrants; (2) the right and left paracolic gutters; (3) the pelvis; and (4) the pericardium, using the subxiphoid window. Congenital Hydronephrosis When intrauterine hydronephrosis is diagnosed, postpartum US is indicated to confirm the diagnosis. It is recommended that sonography not be performed until 4 to 5 days after delivery. A sonogram performed earlier may be falsely nega­ tive or may underestimate the severity of hydronephrosis, because of a relative state of dehydration and decreased glo­ merular filtration rate (GFR) immediately after delivery. After rehydration in the first few days of life, the GFR increases, thereby increasing urine flow. Pelvicaliceal dilatation second­ ary to an obstructing lesion then becomes more apparent. If the postnatal sonogram shows moderate to severe hydrone­ phrosis, a VCUG and diuretic scintigraphy are performed. A VCUG assesses the presence of reflux and diuretic scintigraphy assesses differential renal function. When the initial postnatal US is normal or shows mild dilatation, it is generally repeated

at 6 weeks of age. If follow-up sonography shows mild hydro­ nephrosis, a VCUG is performed. Ureteral Duplication Complete ureteropelvic duplication has two separate pelvicali­ ceal systems and two ureters. The upper pole ureter often has an ectopic insertion and is prone to obstruction. It typically inserts medial and inferior to the trigone (Weigert-Meyer rule). The lower pole moiety ureter is orthotopic and inserts into the trigone. It lies lateral and superior to the upper moiety ureter and often has a perpendicular course entering the bladder (rather than the normal oblique course), predisposing it to reflux. The termination of the ureter from the upper pole can end as an ectopic ureter or ectopic ureterocele (Fig. 24-30; e-Fig. 24-6, A and B). Urinary Tract Calcifications Nephrocalcinosis refers to a pathologic deposition of calcium in the renal parenchyma. Calcification is more common in the medulla than in the cortex. Urolithiasis refers to the presence of stones in the renal collecting system or in the ureter. Neph­ rocalcinosis and urolithiasis appear as areas of increased echo­ genicity. Acoustic shadowing can usually be seen if the stone is 5 mm or greater in size. Nonopaque stones, such as uric acid calculi, can produce as much acoustic shadowing as opaque or calcium-containing renal calculi. Renal Artery Stenosis Peak systolic velocity (PSV) is measured in the aorta at the level of the origins of the renal arteries and is also measured in the main renal artery at the origin, mid-hilum, and hilum, and at any area of focal color aliasing. Waveforms from the interlobar or segmental intraparenchymal renal arteries at the upper and lower poles should be obtained to measure the acceleration index (AI), acceleration time (AT), and resistive index (RI). Optimally, three Doppler waveforms of the intra­ parenchymal renal arteries should be obtained at each pole. The AI is derived by calculating the slope of the line from the onset of systole to the early systolic peak complex, and the AT is the length of time from the onset of systole to the early systolic peak complex. A schematic demonstrating how to measure the AI and AT is presented in e-Figure 24-7. On pulse Doppler examination, the renal arteries normally have a low resistance waveform with continuous forward diastolic flow and a sharp systolic upstroke (e-Fig. 24-8). PSV typically is less than 100 cm/second in the main renal artery and decreases as the arterial tree is traced distally. The RI should be less than 0.7 in the intraparenchymal renal arteries, and the AT is normally less than 70 milliseconds. Diagnostic Criteria for Renal Artery Stenosis Anatomic evaluation of the main renal arteries on the basis of gray-scale images will identify areas of stenosis. Post–stenotic dilatation may also be observed. On color Doppler interroga­ tion, focal color aliasing or a “soft-tissue color bruit” (color artifact in the surrounding soft tissues) suggests an underlying stenosis with increased PSV. Asymmetry of renal length (>1.5 cm) and asymmetry of cortical thickness or echogenicity are also suggestive of underlying renal vascular pathology.

Acute Scrotal Ultrasound See Table 24-6 for a summary of color Doppler ultrasound findings in acute scrotal conditions. Acute Epididymitis/Orchitis Sonographic findings of acute epididymitis include a focally or diffusely enlarged epididymis, with the epididymal head being

24  |  Fundamentals of Pediatric Radiology



Anatomic

987

Urographic

Figure 24-30  Ectopic ureterocele. Diagrammatic representation of the anatomic and urographic appearances of an ectopic ureterocele of the left kidney upper moiety without function. Diagnosis of this entity on a urogram depends on recognition of indirect signs: 1, increased distance from the top of the visualized collecting system to the upper border of the nephrogram; 2, abnormal axis of the collecting system; 3, impression on the upper border of the renal pelvis; 4, decreased number of calices compared with the contralateral kidney; 5, lateral displacement of the kidney and ureter; 6, lateral course of the visualized ureter; and 7, filling defect in the bladder. (From Adam A, Dixon AK: Grainger & Allison’s diagnostic radiology, ed 5, Philadelphia, 2008, Elsevier Churchill Livingstone.)

most commonly involved. Adjacent scrotal skin thickening and a reactive hydrocele are also seen. Spread of inflammation occurs in 20% to 40% of postpubertal males with acute epi­ didymitis, producing epididymo-orchitis. Conversely, 85% of boys with orchitis have signs of epididymitis as well. Color Doppler shows increased blood flow in the inflamed epididy­ mis and/or testis compared with the asymptomatic side. Testicular Torsion Torsion of the testis results when the testis and spermatic cord twist one or more times, obstructing blood flow. With testicu­ lar torsion the testis usually is enlarged and loses its normal echotexture. On color flow Doppler there will be absence of blood flow to the center of the testicle (Fig. 24-31, A and B). With torsion and detorsion, one can be led astray by the fact that after detorsion blood returns to the testicle. In these cases the clinical history is exceptionally important because there will be an abrupt cessation of pain with detorsion. Table 24-6

Color Doppler Ultrasound Findings in Acute Scrotal Conditions

Diagnosis

Intratesticular Flow

Peritesticular Flow

Acute torsion Missed torsion Spontaneous detorsion Orchitis Epididymitis

Absent Absent Normal or increased Increased Normal

Normal Increased Increased Normal Increased

From Feld R, Middleton WD: Recent advances in sonography of the testis and scrotum, Radiol Clin North Am 30:1033-1051, 1992.

Nonetheless, even with this history, the patient should be surgically explored and the problem corrected.

Hip Ultrasound Hip Effusion Ultrasound is useful for delineating fluid in the hip joint (Fig. 24-32, A and B). At this site the two conditions most commonly encountered are transient synovitis and septic arthritis. Developmental Dysplasia of the Hip Breech presentation at birth increases the risk for develop­ mental dysplasia of the hip (DDH) by a factor of 5.5, with the frank breech (hips held in adduction and knees extended) representing the greatest risk. DDH is almost nonexistent in African children as the mothers tend to hold their children against their waist, which holds the hips in flexion and abduction, a position leading to proper acetabular–femoral development. Sonography is well suited to evaluation of the infant hip (Fig. 24-33). The patient must be quiet and relaxed for successful US examination. Ossification of the femoral head interferes with US examination beyond 4 to 6 months of age. Thus, radiography may be useful after about 3 months of age. Manipulation of the hip for dynamic examination may be impossible in the older, stronger infant.

Neonatal Spine Ultrasound Tethered Cord Tethered cord, or low-lying conus medullaris, may occur as a primary problem or in association with other components of

988

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 24-31  Testicular torsion. A, The left testis (T) is enlarged and hypoechoic. B, Color flow Doppler fails to demonstrate flow to the center of the testis. Exuberant flow is present around the testis (arrows) and the epididymis (E).

spinal dysraphism, such as lipomyelomeningocele, heman­ gioma, or a dermoid tract. The filum terminale may be short and abnormally thick (>2 mm). Sonographically, tethered cord is diagnosed in neonates by the presence of low-lying conus (below the L2-L3 disk space). The conus and nerve roots do not move freely in the cerebrospinal fluid (CSF) space and may be positioned posteriorly (Fig. 24-34).

Neonatal Head Ultrasound Germinal Matrix Hemorrhage The germinal matrix develops deep to the ependyma and consists of proliferating cells that give rise to neurons and glia

of the cerebral cortex and basal ganglia. The germinal matrix vascular bed consists of immature fine capillaries and extremely thin-walled veins. By 24 weeks of gestation the germinal matrix persists only in the caudothalamic groove and is not visualized on US; it is the anatomic site where hemor­ rhage occurs in premature infants (Fig. 24-35, A and B). By 40 weeks the germinal matrix has disappeared completely. On US, germinal matrix hemorrhage is seen as an ovoid echogenic mass within the caudothalamic groove. The normal choroid plexus, which is also echogenic, does not extend anterior to the caudothalamic groove into the frontal horn or into the occipital horn. Echogenic material in these segments of the lateral ventricle is consistent with blood. There are four grades of intraventricular hemorrhage (IVH): grade 1, hemorrhage confined to the germinal matrix (Fig. 24-35, B); grade 2, germinal matrix and IVH without ventricular dilatation; grade 3, germinal matrix and IVH with ventricular dilatation; and grade 4, germinal matrix, IVH with or without ventricular dilatation, and intraparenchymal hemorrhage.

COMPUTED TOMOGRAPHY Introduction A

B Figure 24-32  Left hip fluid; ultrasound detection. A, Plain film demonstrates widening of the left hip joint (arrow). B, Ultrasound study of the left hip (LT) in the sagittal plane demonstrates fluid in the bursal extension (arrows) over the femoral neck. Also note that the overlying capsule is slightly thickened. Normal side (RT) is shown for comparison. Note that there is no fluid and that the potential bursal joint space over the femoral neck is collapsed (arrow).

In 1917 Austrian mathematician Johann Radon presented an algorithm for creating an image from a set of measured data. After further theoretical work by Allan Cormack between 1950 and 1970, the British engineer Sir Godfrey Hounsfield built the first CT scanner in 1972 while working for the Electric and Musical Industries (EMI) group, the Beatles’ record company, with funding from the Beatles’ string of massive successes in the 1960s. Hounsfield and Cormack were awarded the 1979 Nobel Prize in Medicine for their work. Indeed, CT imaging, along with magnetic resonance imaging, was rated the first of 30 major medical innovations in the last three decades of the twentieth century by leading internists. CT relies on measuring and displaying the varying x-ray attenuations (absorption) of the tissues in a section of the body during the simultaneous rotation of the x-ray tube and detectors around the patient while passing x-rays through this section from different angles (Fig. 24-36). It then uses recon­ struction algorithms to display the differing densities in a

24  |  Fundamentals of Pediatric Radiology



989

transducer

A

B

Figure 24-33  The coronal flexion sonogram of the normal left hip (A) is oriented vertically to match the anteroposterior radiograph (B). The femoral head (FH) is well seated within a nicely rounded acetabulum. The triradiate (T) cartilage, also known as the Y cartilage, is clearly seen between the iliac (IL), pubic (P), and ischial (IS) bones. The arrow on the sonogram points to the fibrous tip of the cartilaginous labrum. G1 refers to the gluteus minimus muscle, G2 to the gluteus medius muscle, and G3 to the gluteus maximus muscle. (Modified from Smergel E, Losik SB, Rosenberg HK: Sonography of hip dysplasia, Ultrasound Q 20:201-216, 2004.)

gray-scale image. It is the contrast resolution of CT that dis­ tinguishes the modality: CT has, by far, the best contrast resolution of any clinical x-ray modality, allowing small dif­ ferences in x-ray attenuation values to be visualized. CT can detect lesions that differ approximately 0.5% from the sur­ rounding tissues, whereas conventional (screen-film) radiog­ raphy requires the lesion to differ by about 5% for detection (i.e., the range of densities recorded is increased 10-fold by CT). To improve lesion conspicuity on CT scans, contrast material may be injected intravenously. In conventional (serial) CT scanning, the x-ray tube/ detector array rotates 360 degrees around the patient to acquire a slice with the patient stationary (see Fig. 24-36). Typically an examination consists of several successive slices of the patient’s volume of interest, and the table is incremented and the process repeated for each slice. In helical CT, developed by Willi Kalender in 1989, the x-ray tube/detector array rotates continuously about the patient, and the patient is moved at a constant speed. The x-ray tube focal spot locus defines a spiral or helix (Fig. 24-37). The four Cs of spiral CT consist of (1) Continuously rotating tube/detector system, (2) Continuous radiation, (3) Continuous data acquisition, and (4) Continu­ ous table feed (i.e., each acquisition provides a complete volu­ metric data set). This single-row detector helical CT scanner (SDCT) is generally much faster than a serial scanner. In the second half of 1998, the major CT manufacturers launched

Figure 24-34  Tethered cord. Longitudinal sonogram shows low-lying conus (arrow) at the L5 vertebra. Note that the cord and nerve roots are positioned posteriorly.

the multiple-row detector helical CT (MDCT) scanner, capable of acquiring four CT slices in one x-ray tube rotation. In 2004, the 64-slice CT scanner became available. More detectors (currently 64 or more) means that fewer x-ray tube rotations are required to cover the same volume of the patient and therefore data can be acquired more quickly. A short scan time in the pediatric age group may allow more examinations to be performed without sedation. The reduced scanning time sig­ nificantly decreases the respiratory artifact, affecting the lungs in particular. High-speed imaging also allows high-quality CT angiography and cardiac imaging. On MDCT scanners, thin (submillimeter) slices can be obtained, allowing reconstruc­ tion in multiple planes and generation of three-dimensional (3D) images (Fig. 24-38). CT dose reduction in pediatric imaging requires a combina­ tion of different approaches to achieve the goals of ALARA and Image Gently. These include the optimization of scanning protocols for children according to weight-based adjustments, the limitation of unnecessary multiphase contrast studies, replacement of nonessential CT examinations by ultrasonog­ raphy or magnetic resonance imaging, and development of automatic exposure control devices and dose reduction soft­ ware by CT manufacturers.

Applications for Pediatric MDCT CT is useful in imaging many disorders of the brain and spine (see Imaging of the Central Nervous System, later). Common nonneurologic indications for CT are listed in Table 24-7. Noncontrast CT studies are useful for detecting calcification (e.g., renal stone). Nonionic intravenous contrast is uni­versally used and has significantly reduced the incidence of contrast reactions. In the setting of trauma, intravenous contrast is indicated for CT of the neck, chest, abdomen, and pelvis but not for the head, face, spine, or extremities. For CT of the abdomen and pelvis, enteric contrast medium may be given by mouth or rectum in conjunction with intravenous contrast. The intraluminal gastrointestinal opacification helps to dif­ ferentiate normal bowel from abnormal bowel, abscesses, and masses. Administration of oral contrast is contraindicated when a patient lacks a gag reflex or might require general anesthesia. Oral contrast should be drunk in small proportions over a period of about 60 minutes before the CT examination starts so that the entire gastrointestinal tract is completely opacified. The patient should therefore arrive at least 1 hour before an abdominal CT examination.

990

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 24-35  A, Normal germinal matrix–caudothalamic groove. A paramedian sagittal plane shows the caudate nucleus (C), thalamus (T), caudothalamic groove (CTG), and choroid plexus (CP). FL, frontal lobe; PL, parietal lobe. B, Acute subependymal hemorrhage (grade 1 intraventricular hemorrhage). Left parasagittal image shows increased echogenicity in the caudothalamic groove (arrow).

Chest Regions and structures evaluated include the lung paren­ chyma, airway, mediastinum, cardiovascular structures, and chest wall. Lung Parenchyma CT is useful to evaluate infection and can differentiate between pulmonary consolidation, abscess formation, and empyema.

Contrast enhancement will outline the vascular pleura, leaving the contents of an empyema unopacified. CT is invaluable in pulmonary metastatic disease detection and surveillance. Multiplanar and 3D depictions of parenchymal abnormali­ ties can improve the display of bronchopulmonary foregut malformations for surgical intervention (e-Fig. 24-9). CT has advantages over MR imaging for evaluation of sequestration, Figure 24-36  Diagram of a modern third-generation computed tomography (CT) scanner, which acquires data by rotating both the x-ray tube with wide fan beam geometry and the detector array around the patient.

tion Rota X-ray tube

Rot ati on

3rd generation CT scanner

Detector array

24  |  Fundamentals of Pediatric Radiology



Start of spiral scan

Direction of continuous patient transport

Path of continuously rotating x-ray tube and detector

0

z, mm

0

t,s

Figure 24-37  Sketch of the scanning geometry in spiral volumetric CT. t, s, time in seconds; z, mm, section position in millimeters. (Modified from Kalender WA, Seissler W, Klotz E, et al: Spiral volumetric CT with single-breath-hold technique, continuous transport, and continuous scanner rotation, Radiology 176:181-183, 1990.)

including a superior depiction of lung parenchyma and improved spatial resolution (e-Fig. 24-10). CT demonstrates primary pulmonary diseases such as cystic fibrosis, bronchi­ ectasis (Fig. 24-39), and interstitial lung disease. In suspected air trapping, sections on inspiration and expiration are evaluated. Airway Airway evaluation includes assessment of congenital abnor­ malities, endobronchial or extrinsic processes with airway effects (Fig. 24-40), postoperative stenosis, and trauma. Virtual CT bronchoscopy can be obtained in children to evaluate endoluminal lesions.

Table 24-7

991

Nonneurologic Indications for Computed Tomography

Organ

Indications

Chest

Trauma Mass Metastatic disease Infection Acute or chronic lung disease Pleural disease Congenital anomalies, including vascular ring, pulmonary sling, cystic lesions of lung or mediastinum, and sequestration Pulmonary embolus Pulmonary embolus Trauma Mass Infection/abscess Unexplained pain Inflammatory bowel disease Portal hypertension Pancreatitis Urinary calculi (CT preferred over intravenous urography) Congenital anomalies Soft tissue or bone mass Osteoid osteoma Developmental or acquired dysplasia of the hip Femoral anteversion Leg length discrepancy Tarsal coalition Fracture

Abdomen/pelvis

Extremities

CT, computed tomography. Modified from Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics, Philadelphia, 2005, Mosby Elsevier.

Mediastinum Most mediastinal masses are initially identified on chest radio­ graphy and then further evaluated by CT, which confirms the presence of a mediastinal mass, evaluates its relation to the contrast-enhanced adjacent structures, demonstrates potentially characteristic enhancement of the lesion, and eval­ uates for potential complications. Depiction of these abnor­ malities in multiplanar and 3D reconstructions is useful.

Figure 24-38  Three-dimensional volume-rendering reconstruction of the heart in a pediatric patient, showing normal coronary arteries as demonstrated with a 64-slice multidetector spiral CT scanner. A, Anterior; I, inferior; L, left; LAD, left anterior descending artery; P, posterior; R, right; RCA, right coronary artery; S, superior.

Figure 24-39  Coronal reformatted image of the chest (lung window) demonstrates cystic bronchiectasis.

992

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Abdomen and Pelvis

Figure 24-40  Axial image produced by enhanced 64-slice multiple-row detector helical CT (MDCT) reveals separate right and left aortic arches with right dominance. The trachea and esophagus are surrounded by a vascular ring made by the double aortic arches and are moderately compressed.

Cardiovascular Structures Cardiovascular evaluation by MDCT has been an important advancement. Assessment of cardiovascular structures includes evaluation of the aorta (e.g., for aneurysm, dissec­ tion, vascular rings, and postoperative changes); pulmonary arteries (e.g., for congenital or postoperative stenosis and pulmonary embolism) and veins; congenital anomalies of the coronary arteries (Fig. 24-41); and complex cardiovascular assessment that may not be rendered sufficiently by echocardiography. Chest Wall Metastatic involvement of the chest wall by neuroblastoma, lymphoma, or leukemia is more common than are primary tumors (e.g., Ewing sarcoma). MDCT is valuable in the proper depiction of the involved structures and surgical plan­ ning. One of the most common abnormalities in chest wall configuration is pectus excavatum. Before surgical repair by the Nuss procedure, a CT examination using low tube current is obtained through the level of the greatest degree of pectus deformity.

Figure 24-41  Axial maximal intensity projection image of a gated cardiac CT reveals a malignant course of the right coronary artery, taking origin from the left coronary artery and coursing between the aorta and pulmonary trunk.

MDCT is a valuable modality for evaluation of the abdomen and pelvis in children. In contrast to the chest, however, there are multiple imaging modalities that are suitable options for evaluation of multiple processes of the abdomen. This includes ultrasound and MR imaging. For many disease processes, there is marked debate concerning which imaging modalities are the primary choice for imaging in the diagnostic workup. Imaging algorithms vary from nation to nation and from insti­ tution to institution. CT is the imaging study of choice for pediatric trauma, evaluation of suspected pediatric tumors, anatomic evaluation of solid abdominal parenchymal organ masses, and evaluation of suspected abscess or inflammatory disorders. The increased use of CT over the past several years in the evaluation of children with abdominal pain, suspected appendicitis, or sus­ pected urolithiasis is related mostly to CT being considered more routine, the increased speed of MDCT, and changes in the patient population. As obesity becomes an increasing pediatric problem, other imaging modalities, such as ultra­ sound, are less well suited to evaluate pediatric patients for certain abdominal problems, such as appendicitis. The spe­ cific areas in which MDCT has been used with increased frequency to evaluate abdominal disorders include appendi­ citis and abdominal pain, urolithiasis, and inflammatory bowel disease. Appendicitis and Abdominal Pain Appendicitis is one of the more common surgical disorders of the abdomen. Between 7% and 9% of the general popula­ tion develops appendicitis at some time during their life. Clinical examination is somewhat insensitive to appendicitis. Approximately one fourth to half of children with appendici­ tis are missed at initial clinical examination. This number is even greater for those children less than 2 years of age, of whom nearly 100% are missed at initial clinical examina­ tion. In addition, other clinical evaluators, such as the white blood count, are nonspecific and may be normal in cases of appendicitis and elevated in association with many nonsur­ gical causes of abdominal pain. Because of these reasons, imaging plays a critical role in the evaluation of children with appendicitis. The reported sensitivity of CT for appendicitis ranges from 95% to 100%. The specificity ranges from 93% to 100%. Direct signs of acute appendicitis include enlarged appendix (greater than 7 mm in transverse diameter); a nonopacified appendiceal lumen; enhancement of the appendiceal wall; or an appendicolith within the appendix (Fig. 24-42). Secondary signs include stranding of the fat surrounding the appendix, associated free fluid, or thickening of the cecal wall and ter­ minal ileum. Small bowel obstruction or abscess may be associated. In one study, the frequency of appendicitis in a population of patients evaluated by CT for abdominal pain was 38%. Sagittal and coronal reconstructed images may be helpful in identifying the appendix. Identification of alternative diagnoses is another impor­ tant role of CT in the evaluation of patients with abdominal pain and possible appendicitis. Alternative diagnoses revealed by CT scan in patients with suspected appendicitis included those involving the peribowel (46%); ovaries (16%); bowel (13%); urinary tract (8%); and other (17%). “Peribowel” refers to the mesentery and tissues associated with the bowel. Urolithiasis MDCT has gained acceptance as a primary modality for the evaluation of children with abdominal pain and hematuria in the search for urolithiasis. No oral or intravenous contrast is

24  |  Fundamentals of Pediatric Radiology



993

MAGNETIC RESONANCE IMAGING Introduction

Figure 24-42  Coronal reformatted CT image produced after the administration of oral, rectal, and intravenous contrast shows dilated appendix (arrows) with a thickened enhancing wall and stranding of the surrounding fat. Note the round calcified appendicolith located near the orifice of the appendix.

administered. In one reported series, approximately 40% of patients evaluated with CT for suspected stones demonstrated urolithiasis. In addition, alternative diagnoses were suggested in 17% of patients. CT findings in urolithiasis include visual­ ization of the radiodense stone, dilatation of the ureter or collecting system, asymmetrical enlargement of the kidneys, and perinephric stranding. Inflammatory Bowel Disease MDCT is being used in the evaluation of children in adoles­ cence with inflammatory bowel disease, such as Crohn disease or ulcerative colitis. The technique, termed “CT enterogra­ phy,” uses neutral oral contrast and intravenous contrast and is useful in the evaluation of patients with suspected active inflammatory processes, abdominal abscesses, or a fistula. CT enterography is becoming increasingly used, in contrast to various fluoroscopic studies such as small bowel followthrough. CT is superior to fluoroscopy in the demonstration of inflammatory changes within the bowel, and in particular extraluminal manifestations, such as peribowel inflammatory change or abscess. At present, MR enterography is being used at increased frequency, with images comparable to those of CT enterography without exposing patients to ionizing radiation. Skeletal System MDCT is indicated to better delineate the extent of a bony lesion (e.g., stress or comminuted fractures, metastatic and primary bone lesions) and in preoperative and postoperative imaging. The role of CT in tumor staging has been largely replaced by MR imaging. The reformatting and 3D reconstruc­ tion capabilities (Fig. 24-43) and the superior visualization of trauma, the casted skeleton, and complex osseous structures are the most useful features of CT imaging. CT measurement of leg lengths and femoral anteversion can be performed by a low-dose technique.

Magnetic resonance imaging is based on the electromagnetic activity of atomic nuclei. Nuclei are made up of protons and neutrons, both of which spin about their own axes. The direc­ tion of spin is random so that some particles spin clockwise, and others counterclockwise. When a nucleus has an even mass number the spins cancel each other out, and therefore the nucleus has no net spin. When a nucleus has an odd mass number, the spins do not cancel each other out and the nucleus spins. As protons have a charge, a nucleus with an odd mass number has a net charge as well as net spin. Owing to the laws of electromagnetic induction, a moving unbalanced charge induces a magnetic field around itself. The direction and size of the magnetic field are denoted by a magnetic moment or arrow (Fig. 24-44, A). Nuclei with an odd number of protons are said to be MR active. They act like tiny bar magnets. The hydrogen nucleus is the MR active nucleus used in clinical MRI. This nucleus consists of a single proton (atomic number 1; 1H). It is used for MR imaging because it is abun­ dant in the human body (e.g., in fat and water), and its solitary proton gives it a large magnetic moment. Each cubic millime­ ter of tissue contains about 1018 protons (1H). When the hydrogen nuclei (1H) are exposed to an external magnetic field (B0), they produce a secondary spin or spin wobble. This wobble is called precession and causes the mag­ netic moments of the hydrogen nuclei to describe a circular path around B0. The speed at which the magnetic moments wobble about the external magnetic field is called the preces­ sional or resonance frequency. The precessional frequency becomes higher when the magnetic field strength increases. The precessional frequency corresponds to the range of fre­ quencies in the electromagnetic spectrum of radiowaves. The precessional frequency of 1H at 1.5 tesla (T) is 63 megahertz (MHz). Until the 1H nuclei are exposed to B0 magnetization, their axes are randomly aligned. However, when B0 magnetization is applied, the magnetic axes of the nuclei align with the

Figure 24-43  Three-dimensional volume-rendering reconstruction of a displaced comminuted fracture involving the distal humerus.

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Precession

H1

Spin

Bo H1

Bo

H1

H1

H H1

Magnetic axis

A

H1

H1

H1

1

H1

H1

994

NMV MR signal

RF

Mz

Faraday i

RF



on

B

off Mxy

time

Mz

Fat

Mxy H2O

H2O time T1 recovery

time T2 decay

Fat

Figure 24-44  Basic physics of the magnetic resonance (MR) signal. A, As 1H nuclei spin, they induce their own magnetic field (tan), the direction (magnetic axis) of which is depicted by an arrow (orange). The 1H nuclei initially spin at various angles, but when they are exposed to an external magnetic field (B0), they precess with a wobble and align with it. The sum of all magnetic moments is called the net magnetization vector (NMV). B, When a radiofrequency (RF) pulse is applied, the net magnetization vector is flipped at an angle (α), which produces two magnetization components: longitudinal magnetization (Mz) and transverse magnetization (Mxy). As the transverse magnetization precesses around a receiver coil, it induces a current (i). When the RF generator is turned off, T1 recovery and T2 decay occur. (Modified from Bitar R, Leung G, Perng R, et al: MR pulse sequences: What every radiologist wants to know but is afraid to ask, Radiographics 26:513-537, 2006.)

magnetic axis of B0, some in parallel and others in opposition to it (Fig. 24-44, A). The cumulative effect of all the magnetic moments of the nuclei is the net magnetization vector (NMV). When a radiofrequency (RF) pulse at an appropriate frequency (resonant frequency) is applied, the absorbed RF energy causes the net magnetization vector to momentarily flip by a certain angle to a higher energy state, and this produces two magnetization vector components: longitudinal magnetization and transverse magnetization. As the transverse magnetiza­ tion precesses around an RF receiver coil, a current is captured in accordance with the Faraday law of induction. This current becomes the MR signal. When the RF energy source is turned off, the net magneti­ zation vector realigns with the axis of B0 through the process of T1 recovery, during which the longitudinal magnetization increases in magnitude. At the same time, the transverse mag­ netization decreases (decays) through a mechanism known as T2 decay. Different tissues have different T1 and T2 values. Fat has a shorter T1 (i.e., recovers faster) and a shorter T2 (i.e., decays faster) than water, which has a relatively long T1 (i.e., dark) and long T2 (i.e., bright) (Fig. 24-44, B). MRI has superior soft tissue contrast resolution compared with other imaging modalities. T1-weighted images best depict the anatomy, and, if contrast material is used, they also may show pathologic entities; however, T2-weighted images provide the best depiction of disease, because most tissues that are involved in a pathologic process have higher water content than is normal, and the fluid causes the affected areas to appear bright on T2-weighted images. The levels of signal intensity that characterize various tissues on T1- and T2-weighted images are shown in Figure 24-45. Air is black because of its extremely low concentration of hydrogen, and cortical bone is black because of its lack of mobile protons. Flowing blood is black on spin-echo images because of the flow of protons away from the area before the signal can be received. An MRI scanner consists of a large circular magnet. The magnetic resonance signal from the body is detected from fixed receiver coil arrays that are built into the patient table and from flexible arrays that can be placed on top of the patient. MRI scanners use magnetic fields that are about 30,000 to 60,000 times stronger than the earth’s magnetic field. Magnetic fields are measured in teslas (T); 1 T = 10,000 gauss (G). The earth’s magnetic field is weak (50 µT or

0.5 G). No adverse biologic effects from diagnostic MRI have been demonstrated. The strong magnetic field, however, means that it is at present contraindicated in patients with cardiac pacemakers, internal ferromagnetic objects such as surgical aneurysm clips, and intraocular metal shards. Elec­ tronic monitoring equipment cannot be used while the patient is scanned. Thus, for most traumas, CT is preferred. One advantage of MRI over CT is that it can acquire images in any plane and without the need of ionizing radiation. However, acquisition of the highest quality images by MRI requires tens of minutes, whereas a CT scan of most body parts requires only a few seconds. Thus, for patients in whose motion cannot be controlled (i.e., uncooperative, disoriented or claustrophobic patients, and infants/young children), CT is often used or MRI can be performed under sedation. Unavoid­ able movements from breathing, cardiac pulsation, and peri­ stalsis often degrade the image. Fast image acquisition techniques using special coils, and motion-limiting techniques using gating devices, have made it possible to produce imaging of the motion-prone thorax and abdomen. Gadolinium-based paramagnetic contrast agents increase the signal intensity of tissues on T1-weighted images with fat saturation. Pathologic processes such as tumors and inflam­ mation tend to show greater enhancement than normal tissues. Accumulated experience has shown that gadolinium is very safe for administration in children. Contrast-enhanced mag­ netic resonance angiography (CE-MRA) provides highresolution imaging of the vasculature and may eventually replace conventional angiography (Fig. 24-46).

Nephrogenic Systemic Fibrosis in Children Nephrogenic systemic fibrosis (NSF, or nephrogenic fibrosing dermopathy) is a recently defined disease with a potentially deleterious outcome and not yet completely clarified etiology. A common factor in many patients is underlying kidney disease (with renal insufficiency, often requiring dialysis). Another commonly observed factor is repeated gadolinium administration, although there are patients with NSF without previous known gadolinium exposure. Additional independent risk factors are metabolic acidosis and inflammatory and post­ operative conditions. Although only a few reports have described a partial linkage between children with NSF and

24  |  Fundamentals of Pediatric Radiology



995

Air, mineral-rich tissue (cortical bone, stones), fast-flowing blood Dark

T1WI

Low

Intermediate

Bright

Collagenous tissue (ligaments, tendons, scars), high free water tissue (kidneys, gonads, edema, fluids [urine, bile], simple cysts, bladder, gallbladder, spleen, CSF), high bound water tissues (liver, pancreas, adrenals, hyaline cartilage, muscle) Proteinaceous tissue (abscess, complex cysts, synovial fluid) Fat, fatty bone marrow, blood products (methemoglobin [metHB]), slow-flowing blood, radiation change, paramagnetic contrast agents

Air, mineral-rich tissue (cortical bone, stones), fast-flowing blood Dark

T2WI

Low

Intermediate

Bright

Collagenous tissue (ligaments, tendons, scars), bone islands High bound water tissue (liver, pancreas, adrenals, hyaline cartilage, muscle) Fat, fatty bone marrow High free water tissue (kidneys, gonads, edema, fluids [urine, bile], simple cysts, bladder, gallbladder, spleen, CSF), proteinaceous tissue, blood products (oxyhemoglobin, extracellular metHb)

Figure 24-45  Diagram showing the signal intensity of various tissues at T1- and T2-weighted imaging. However, note that the signal characteristics of proteinaceous tissues vary according to the amount of protein content: Tissues with high concentrations of protein may have high signal intensity on T1-weighted images (T1WI) and low signal intensity on T2-weighted images (T2WI). CSF = cerebrospinal fluid. (Modified from Bitar R, Leung G, Perng R, et al: MR pulse sequences: What every radiologist wants to know but is afraid to ask, Radiographics 26:513-537, 2006.)

gadolinium exposure, the pediatric radiology community is urged to consider NSF when performing MRI (e-Table 24-6).

Applications for Pediatric MRI MRI is the imaging modality of choice for many disorders of the brain and spine (see Imaging of the Central Nervous System, later).

Figure 24-46  Contrast-enhanced magnetic resonance angiography. Time-resolved imaging of contrast kinetics (TRICKS) MR angiogram in a 7-month-old.

Chest Regions and structures evaluated include airway, mediasti­ num, cardiovascular structures, and chest wall. MRI has become an important modality for the evaluation of medias­ tinal lesions. MRI is ideal for characterizing posterior medias­ tinal masses such as neuroblastoma because it better defines their intraspinal extension. MRI is useful in characterizing the tissue nature of mediastinal masses. Fat-containing masses in children usually are teratomas. Lymphatic malformations and other cystic lesions usually present as water signal. MRI is useful in the diagnosis of congenital anomalies such as vas­ cular ring and pulmonary sling, and MR angiography may show the systemic vascular supply to the bronchopulmonary malformation and its relationship to the solid or solid compo­ nent of the lung lesion. Pulmonary metastases can be reliably diagnosed from 5 mm in size, using MRI (Fig. 24-47); however, because of the clinical relevance of early identification of pulmonary metastases, CT is the established gold standard for initial diagnosis. Therefore, MRI of the lung in children has so far been performed solely to monitor the regression of known pulmonary metastases under therapy. Calcifications are readily seen on CT but cast no signals on MR. Cardiac Magnetic Resonance Echocardiography is the first-line modality of cardiac imaging. It is portable, noninvasive, and provides immediate highresolution anatomic and physiologic information. But echocar­ diography does have several limitations. The quality of images can be compromised in those who are noncooperative or if there are poor acoustic windows. Echocardiography is also limited in providing the position and course of extracardiac vascular structures (e.g., vascular rings, collateral vessels). Cardiac magnetic resonance (CMR) is gaining increasing importance in the management of pediatric congenital heart disease (CHD). It is a powerful tool, giving anatomic and hemodynamic information that echocardiography and

996

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 24-47  Eleven-year-old with metastatic rhabdomyosarcoma. A, Coronal CT image of the chest (lung window) demonstrates a 5.2-mm right upper lobe metastatic nodule (arrow). B, The same nodule (arrow) is hyperintense on a coronal short tau inversion recovery (STIR) image obtained 3 weeks later.

catheterization alone do not provide. Extracardiac anatomy can be delineated with high spatial resolution, intracardiac anatomy can be imaged in multiple planes, and functional assessment can be made accurately and with high reproduc­ ibility. CMR is the gold standard for the quantification of ventricular volume, mass, and ejection fraction. Finally, CMR surpasses both catheterization and echocardiography in its ability to create high-resolution 3D reconstructions of complex CHD, without the use of ionizing radiation. Common Indications for the Use of CMR 1. Shunts (atrial septal defect, ventricular septal defect, and partial anomalous pulmonary venous drainage [PAPVD] and associated sinus venosus defects): CMR can accu­ rately identify the location of the shunt and characterizes its hemodynamics by measuring flow through the pulmo­ nary artery and ascending aorta (Qp:Qs), using throughplane phase-contrast flow sequences. 2. Quantification of valve regurgitation: Through-plane phase-contrast flow sequences give forward and reverse flow volumes through a vessel, allowing the regurgitant fraction to be calculated (RF% = reverse flow/forward flow × 100). Examples of regurgitant valves that require accurate serial imaging to guide management include bicuspid aortic valves and pulmonary regurgitation in patients after tetralogy of Fallot (TOF) repair (Fig. 24-48). 3. Determination of the extracardiac anatomy in patients with complex CHD such as relationship of great vessels, major aortopulmonary collateral arteries (MAPCAs), airway branching pattern, and abdominal situs. 4. Aortic root/arch abnormalities: Assessment of the extent and severity of aortic coarctation (Fig. 24-49). CMR is useful in patients who have undergone coarctation repair in whom echocardiography does not sensitively demon­ strate aneurysmal formation or restenosis. Patients with suspected vascular rings benefit from 3D evaluation. CMR is performed in patients with a dilated aortic root, such as a bicuspid aortic valve and Marfan syndrome, to

assess morphology and competency/patency of the aortic valve. 5. Evaluation of size and patency of pulmonary arteries: CMR provides detailed anatomy of the branch pulmonary arteries and the main pulmonary trunk in postoperative patients who have had pulmonary arteries mobilized and/ or reconstructed (e.g., arterial switch operation, after repair of TOF). Patients with inherently abnormal pulmo­ nary arteries due to syndromes such as Noonan and Ala­ gille may also require CMR. 6. Evaluation of pulmonary venous anatomy/stenosis and systemic veins. 7. Assessment of anomalous coronary arteries, coronary aneurysms in Kawasaki disease, and coronary anatomy after arterial switch operation. 8. T2* (pronounced “T2 star”) CMR is an accurate, noninva­ sive method for the diagnosis and monitoring of patients at risk for iron deposition cardiomyopathy. 9. Evaluation of arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, and myocarditis. 10. Assessment of intracardiac masses/thrombi and pericar­ dial masses. 11. Takayasu arteritis: MRI can detect arterial wall thickening, edema, and late gadolinium enhancement (LGE) consis­ tent with active disease; and can also assess complications such as vascular narrowing and/or dilation. 12. CMR tissue tagging: This noninvasive tool quantifies 3D intramural myocardial function and provides detailed data on contraction/relaxation of the heart. Role of CT Imaging CT imaging is useful for patients who are unable to cooperate with CMR, have contraindications to MRI, or who are too clinically unstable. In addition, when CMR provides inade­ quate images for clinical decision-making (e.g., small

24  |  Fundamentals of Pediatric Radiology



A

B

997

C

500 400 Flow (mL/s)

300 200

Systolic forward flow

100 0

Diastolic reverse flow

100 200

D

0

250

500 750 Time (msec)

1000

Figure 24-48  Assessment of pulmonary regurgitation in a 20-year-old with repaired tetralogy of Fallot. A, Localizer sagittal spin-echo MR image indicates the imaging plane of the flow images (white line) perpendicular to the main pulmonary artery (PA). RV, right ventricle. B, Phase-velocity image obtained during systole reveals low signal intensity within the pulmonary artery (PA), indicating antegrade flow. C, Phase-velocity image obtained during diastole demonstrates high signal intensity within the pulmonary artery (PA), indicating retrograde flow. D, Graph depicts the flow profile in the main pulmonary artery. A pulmonary regurgitant fraction of 55% was calculated (RF% = reverse flow/ forward flow × 100).

A

B

Figure 24-49  Coarctation of the aorta in an 18-year-old. Sagittal maximal intensity projection (A) and volume-rendering (B) reconstruction images from magnetic resonance angiography show a three-vessel aortic arch with severe narrowing of the aorta just distal to the origin of the left subclavian artery. There are prominent collateral vessels feeding the proximal descending aorta just beyond the coarctation.

998

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

Figure 24-50  Undifferentiated (embryonal) sarcoma in a 14-year-old. A, Axial T2-weighted image shows a well-circumscribed hyperintense mass, in the right lobe of the liver, containing hypointense septa. B, Magnetic resonance cholangiopancreatography image demonstrates obstruction of the intrahepatic bile ducts caused by the tumor.

structures such as coronary arteries), ECG-gated CT angiogra­ phy is the modality of choice. Abdomen Abdominal Masses MRI is increasingly advocated for initial diagnosis of various abdominal masses as well as for preoperative imaging, assess­ ment of complications, and follow-up. Abdominal masses in the pediatric population are predo­ minantly retroperitoneal in location, with the kidney being the source in more than half of the cases. In neonates, most abdominal masses are benign; beyond the neonatal period, the percentage of malignant neoplasms increases. Retroperitoneal tumors encompass the neonatal mesoblastic nephroma, neuroblastoma, ganglioneuroma, ganglioneuro­ blastoma, Wilms tumor, rhabdoid renal tumor, renal cell car­ cinoma (in older children), and pheochromocytoma. Liver tumors in the pediatric population frequently include hemangioma and hemangiomatosis, hepatoblastoma, embryo­ nal hepatocellular sarcoma (Fig. 24-50), rhabdomyosarcoma, and hepatocellular carcinoma (in cirrhotic liver diseases). Par­ ticularly in patients after chemotherapy, liver adenoma and focal nodular hyperplasia may be seen and—in early stages— can be challenging to differentiate from metastasis or recurrent disease. Choledochal cyst is the most common mass arising in the biliary tree. Rhabdomyosarcoma of the biliary tract is rare, but it is the most common malignancy of the biliary tract in children. Focal pancreatic lesions in children are usually exocrine neoplasms or cystic lesions. Pancreatoblastoma is the most common exocrine pancreatic neoplasm in young children. Cystic pancreatic lesions are usually associated with inherited disorders such as cystic fibrosis, von Hippel-Lindau disease, and autosomal dominant polycystic disease. Focal splenic lesions in children include abscesses, neo­ plasms (most commonly lymphoma), vascular malformations (lymphatic malformation and hemangioma), and cysts. Mesenteric masses include lymphatic malformation, mes­ enteric cyst, and teratoma. Lymphoma is the most common malignant neoplasm of the bowel and mesentery. Genital tumors may be encountered; the most common are ovarian teratoma and various ovarian and testicular stromal tumors. Congenital uterine malformations are easily assessed by MRI.

Magnetic Resonance Cholangiopancreatography Magnetic resonance cholangiopancreatography with heavily T2-weighted sequences has been shown to be safe and accurate in depicting pancreatobiliary anatomy and can be applied to evaluate pancreatitis, choledochal cysts, choledocholit­hiasis, primary sclerosing cholangitis, masses, and trauma. It is also useful for evaluation before and after liver transplantation. Magnetic Resonance Enterography Magnetic resonance enterography is reliable to assess the degree of disease activity, the severity and extent of bowel involvement, and the presence of extraintestinal compli­ cations, including abscesses, fistulas, and sinus tracts (Fig. 24-51).

Figure 24-51  Magnetic resonance enterography. Coronal T2 single-shot fast spin echo image in a 14-year-old with Crohn disease shows two segments of small bowel wall thickening and luminal narrowing consistent with strictures (arrows). Note the dilation of the ileal loops proximal to the strictures.



Magnetic Resonance Urography Pediatric magnetic resonance urography has gained impor­ tance for assessment of complex GU tract anomalies and severely hydronephrotic kidneys; to a large extent (if avail­ able) it has replaced intravenous urography. Quantification of Iron Accumulation in the Liver MR imaging does not image iron directly but instead detects the effect of iron on water protons in the tissue of interest. The distribution of iron overload is usually diffuse and homo­ geneous, but it may be heterogeneous. In patients with cir­ rhosis, the accumulation also may be focal, reflecting selective accumulation of iron in siderotic nodules. The pattern of organ involvement reflects the etiology. In patients with hereditary hemochromatosis, there is preferen­ tial involvement of the liver, pancreas, and heart, with sparing of extrahepatic reticuloendothelial (RE) organs (spleen, bone marrow, lymph nodes). By comparison, in thalassemia and other transfusion-dependent anemias, preferential involve­ ment of the RE system (liver, spleen, bone marrow, lymph nodes) is characteristic. Involvement of the pancreas and heart suggests the storage capacity of the RE system has been exceeded. In sickle cell disease (SCD), the renal cortex may show iron accumulation related to intravascular hemolysis. The liver in SCD is usually spared in the absence of transfu­ sion therapy; involvement of the liver in nontransfused patients with SCD suggests a coexisting cause for hepatic iron overload such as hereditary hemochromatosis. Musculoskeletal System MRI has had a major impact on musculoskeletal imaging because of its ability to produce high-contrast images of struc­ tures that are invisible or that are poorly visualized by x-ray– based modalities. This feature is especially important in children, because the immature skeleton contains a high pro­ portion of radiolucent cartilage. Radiographs obtained before MRI guide the selection of the proper MRI protocol (imaging planes and pulse sequences) to fully delineate and character­ ize anatomy and pathology; and can improve the diagnostic specificity of soft tissue lesions by depicting calcifications, fat, gas, or foreign material within the lesion. Imaging protocols should include T1-weighted, T2-weighted, proton density (PD) sequences (with at least one of these combined with fat saturation); a short tau inversion recovery (STIR) sequence; and, when indicated, T1-weighted images with fat saturation after intravenous application of gadolinium in two planes. T2-weighted images with fat saturation and STIR images are used to diminish signal from fat and to increase the conspicuity of pathologic processes. Proton density and gradi­ ent echo sequences with fat saturation are useful for displaying cartilage, which appears intense on these images. On MRI, bone and other dense tissues, including intact ligaments and tendons, show a lack of signal. This character­ istic absence of signal provides negative contrast in compari­ son with muscle, which is of intermediate intensity, and yellow marrow, which is hyperintense on T1-weighted images. Accumulations of fluid within joints and bursae are hyperin­ tense on T2-weighted images, as are fluid-containing lesions such as abscesses and cysts. Intravenous gadolinium is useful for the delineation of areas of inflammation, ischemia, and revascularization in patients with avascular necrosis and in patients with tumors. Gadolinium enhancement helps to dem­ onstrate acute inflammatory changes in the joints, especially in the hypertrophied synovium in children with arthritis, and is also helpful in distinguishing the various types of vascular malformations. MR arthrography with dilute gadolinium is now commonly used in the diagnosis of some joint disorders, most notably labral abnormalities in the shoulder and hip.

24  |  Fundamentals of Pediatric Radiology

999

Bone marrow edema, indicated by alterations in marrow signal (dark on T1-weighted images, bright on T2-weighted images with fat suppression and on STIR images), may indi­ cate the presence of subtle or radiographically undetectable microfractures. MRI has proved sensitive to injuries and mal­ formations involving the physis and epiphysis. This permits diagnosis of radiographically occult fractures and allows for early detection of posttraumatic bony physeal bridges. Osteo­ chondritis dissecans involves most often the epiphyseal carti­ lage of the femoral condyles, talus, and the capitellum. A T2-weighted sequence is able to demonstrate the grade and stability of the lesions, and visualize the cartilage, thus con­ tributing to treatment planning. MRI is also useful during the course of inflammatory conditions such as juvenile rheuma­ toid arthritis, hemarthroses associated with blood coagulation disorders, and internal articular derangements from trauma or sports injury. MRI is the method of choice to detect meniscal injuries, ligamentous tears, patellar dislocation, cartilaginous injury, and avulsion fractures. Congenital abnormalities, such as discoid meniscus and tarsal coalition, are also easily rec­ ognizable on MRI. MRI is of extreme value in the imaging of osteomyelitis. Acute inflammation manifests as signal loss on T1-weighted images and elevated signal on T2-weighted fat-saturated and STIR images, as early as 24 to 48 hours after the onset of symptoms, allowing early diagnosis. Adjacent soft tissue changes demonstrate similar signal intensity changes. Abscess formation is characterized by a central hypointensity and peripheral enhancement on T1-weighted images after gado­ linium administration (Fig. 24-52). MRI is the modality of choice in the initial staging of primary malignant bone tumors. First, the entire affected bone and neighboring joint should be scanned in order to determine the exact tumor extension, skip lesions, and joint involvement. Then, high-resolution images of the tumor itself should be obtained. MRI plays a major role in demonstrating the intraand extramedullary tumor components, and involvement of the growth plate, surrounding muscle components, neurovas­ cular structures, and joints. MRI alone cannot reliably distin­ guish between benign and malignant tumors, and even

Figure 24-52  Acute hematogenous osteomyelitis in an 8-month-old. Coronal T1-weighted fat-saturated image with contrast demonstrates bone marrow infection with cortical breakthrough and associated subperiosteal abscess (arrow) in the proximal right tibial metaphysis.

1000

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

associated bone marrow and soft tissue edema or enhance­ ment gadolinium administration are not reliable criteria of malignancy; in many instances only biopsy can establish the definite diagnosis. MRI remains the only modality that permits direct visual­ ization of normal bone marrow. The amount and distribution of red (hematopoietic) and yellow (fatty) marrow change with age. At birth, nearly the entire skeleton is composed of red marrow. Normal conversion from red to yellow marrow occurs in a predictable manner and is completed by the time an individual has reached the mid-20s (e-Fig. 24-11). Conversion from red to yellow marrow proceeds from the extremities to the axial skeleton, occurring in the distal bones of the extremi­ ties (feet and hands) first, and progressing finally to the proxi­ mal bones (humeri and femora). Whole body MRI (WBMRI) is a novel technique that is targeted for maximal coverage of the body within the shortest possible time, using the minimal number of sequences. The common scan plane is coronal with additional planes being added depending on the indication. Evaluation of the bone marrow has been the primary indica­ tion and thus a STIR sequence is typically used, with the T1-weighted sequence being added variably. For correct evalu­ ation of the bone marrow in the pediatric age group, under­ standing the normal pattern of marrow transformation is essential. The primary role of WBMRI has been in oncology for the detection of tumor spread and also for follow-up and the evaluation of complications. The initial comparative studies of WBMRI with scintigraphy and PET in children have shown the high diagnostic potential of WBMRI. Emerging potential applications of WBMRI include evaluation for osteo­ necrosis, chronic multifocal recurrent osteomyelitis, myopa­ thies, and generalized vascular malformations.

CURRENT ROLE OF CT IN CNS IMAGING

IMAGING OF THE CENTRAL NERVOUS SYSTEM

Unenhanced CT of the Brain

Introduction Advances in CT and MRI have vastly improved the delineation of central nervous system (CNS) anatomy and the diagnosis and extent of CNS pathology. In CT imaging, the development of multidetector CT (MDCT) scanners has resulted in greater resolution, faster imaging and reconstruction times, and reduction of the radia­ tion dose due to focused collimation. All the images acquired can be displayed according to various algorithms and the scout views obtained for each examination may also provide additional information, not unlike that of a plain radiograph. The incredible speed of multidetector CT has also minimized the need for sedation. Safety issues with CT pertain primarily to the radiation exposure. The American College of Radiology (ACR) is com­ mitted to radiation safety and has implemented practice guide­ lines, technical standards and accreditation programs, as well as Appropriateness Criteria (e-Table 24-7). MRI is noninvasive and does not involve ionizing radiation. MRI defines CNS anatomy in exquisite detail. Physiology and function can also now be evaluated and assessed by MRI. New sequences such as DWI/DTI (diffusion-weighted imaging and diffusion tensor imaging), MRS (MR spectroscopy), PMRI (perfusion MRI), and fMRI (functional MRI) provide informa­ tion complementary to that obtained by anatomic imaging and provide additional characterization of disease pathophysiol­ ogy, response to therapy, and/or disease progression. Faster sequences and MR-compatible goggles (which permit the patient to watch videos/movies and listen to music) have reduced the need for sedation although it remains a significant factor in pediatric MRI examinations (e-Table 24-8).

CT of the brain, head and neck, and spine is often used as a first-line screening modality because of its availability. CT is the modality of choice in the setting of trauma. It may also suffice as the expedient or screening examination in patients with uncomplicated headaches, macrocephaly, or hydrocephalus, particularly in younger patients who may require sedation for an MRI examination. In the elective setting, balancing the availability of CT and concern about the ionizing radiation involved versus the risks of possible seda­ tion are often the determining factors. In acute situations, such as acute mental status change, signs of increased intracranial pressure or acute onset of neurologic symptoms, or in the unstable patient, CT is often the primary imaging modality, again because of its availability and ability to rapidly exclude or provide information related to life-threatening intracranial hemorrhage, edema, hydrocephalus, mass, or mass effect (Table 24-8). CT still provides the most sensitive detection of subarach­ noid hemorrhage and calcifications. The latter may provide added diagnostic specificity for CNS tumors, the sequelae of congenital infections/TORCH, and in the diagnosis of certain phakomatoses such as Sturge-Weber syndrome and tuberous sclerosis. Osseous lesions or lesions with a chondroid matrix are also exquisitely detailed by CT. The CT density characteristics of many entities can be characterized by their Hounsfield unit (HU) values. The scale defines the density of water as 0 HU, and the density of air as –1000 HU. A change of 1 HU represents a change of 0.1% in density related to the attenuation coefficient of water. The scale defines the calibration for CT scanners (Table 24-9).

Indications for various CT imaging modalities depend on the clinical scenario. Use of unenhanced CT of the brain is useful in acute stroke if MRI is not available and excluding hemor­ rhage and/or large territorial infarction, which may preclude thrombolytic therapy (Fig. 24-53). In patients with acute mental status changes, unenhanced CT scan can evaluate for

Figure 24-53  Unenhanced axial CT image of a patient with a stroke at the level of the basal ganglia delineates hypodense right caudate and putamen (arrow). The left caudate and putamen are hyperdense, as are the thalami; the central and peripheral gray matter appear normal. Right basal ganglia show ischemic changes and infarction.

24  |  Fundamentals of Pediatric Radiology



Table 24-8 Brain

Table of Clinical Symptoms and Suggested Diagnostic Modalities: A Guideline Symptom(s)

Clinical Presentation

U/E

Modality

Headache

No ND or signs of ↑ICP ND and/or signs of ↑ICP

E U

Macrocephaly Hydrocephalus

Without ND, HA, irritability, seizures, or signs of ↑ICP With ND, HA, irritability, seizures, signs of ↑ICP Regardless of presentation Without persistent ND, fever, or signs of ↑ICP Fever, AMS, ND, or signs of ↑ICP ND, HA, seizures

E

E E

MRI MRI ± MRA/MRV; if unavailable, CT to exclude mass effect, hemorrhage, or hydrocephalus CT or MRI: Balance concern for radiation versus possible need for sedation MRI; if unavailable, CT to exclude hydrocephalus, hemorrhage, or mass effect MRI (and CT if congenital infection is suspected, to detect calcifications) MRI ± contrast

U U U

MRI, MRA, MRV, ± MRS; if not available, CT ± contrast MRI, MRA, MRV, ± MRS and PMRI; if not available, CT MRI/MRA/MRV/MRS; if not available, CT

E U

MRI CT for initial evaluation; and MRI in severe trauma to assess full extent of brain injury Plain films and MRI Plain films and MRI Plain films and MRI with contrast Plain films ± MRI Plain films ± MRI MRI and plain films, and/or CT if complex spinal dysraphism is present Plain films ± CT MRI in severe trauma for assessment of cord and ligamentous injury and possible intraspinal hematoma CT or MRI with contrast; balance consideration of ionizing radiation with possible need for sedation with MRI

Microcephaly Seizures Stroke Perinatal HIE, seizures, ↑bilirubin Congenital anomalies Trauma Spine

Pain Scoliosis Congenital anomalies Trauma

Neck

Mass

Pain/infection Orbits, head, and skull base

1001

Metastases Skin lesion Hemangioma Infection Cranial nerve deficit Trauma Anomalies Leukocoria Strabismus

U

Without ND or systemic signs With radiculopathy Malignancy, fever, systemic signs Without ND or pain With ND and/or pain Lesion on back, ND

U/E U/E U/E E E E U

Without fever, erythema, dysphagia, or airway compromise With fever, erythema, dysphagia, and/or airway compromise With fever, swelling, dysphagia, and/or airway compromise

E

No pain or erythema Pain, fever, swelling, or cranial nerve deficit Without pain or fever

U

CT with contrast

U

CT with contrast

E E E U

CT or MRI with contrast; if perineural spread of concern, MRI MRI with contrast MRI with contrast CT with contrast; MRI if perineural spread or intracranial extension is suspected MRI; MRI if perineural spread or intracranial extension is suspected CT High-resolution CT with 3D reconstruction MRI (and CT to assess for calcifications) MRI

U U E U/E E

AMS, altered mental status; CT, computed tomography; E, elective; HA, headache; HIE, hypoxic ischemic injury; ICP, intracranial pressure; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging; MRS, magnetic resonance spectroscopy; MRV, magnetic resonance venography; PMRI, perfusion magnetic resonance imaging; ND, neurologic deficits; U, urgent.

edema, hemorrhage, and/or mass effect, which may preclude safe lumbar puncture (Fig. 24-54). CT is valuable for evalu­ ation of intracranial fluid collections, and bone windows may reveal abnormalities of the calvarium (Fig. 24-55). In the setting of macrocephaly, ventricular size and extra-axial fluid or mass can be determined and bone windows allow assess­ ment of the calvarium and sutures (Fig. 24-56). In addition to changes in ventricular size, shunt position or edema or hemorrhage can aid in evaluation of shunt function (Fig. 24-57). High-resolution images of the cranial vault and brain with 2D and 3D reconstructions allow detailed analysis of cra­niosynostosis or other cranial anomalies (see Chapter 22).

Contrast-enhanced CT of the Brain Contrast-enhanced (CE) CT of the brain is becoming a rela­ tively rare examination, as an unenhanced CT scan that is positive is usually followed by an MRI examination. And an unenhanced CT that is negative, but does not answer the clinical question, is also usually followed by an MRI examination. In ordering a contrast-enhanced examination the patient’s clinical history, history of allergies, renal function, hydration status, and medications should be known and reviewed. Aller­ gic reactions to iodinated contrast are rare, but do occur, in the pediatric population.

Table 24-9  Density Characteristics of CNS Structures on Computed Tomography DENSITY (HU)

Gray Matter 30 to 40

White Matter

CSF

Acute Blood

Calcification

Bone

Air

Fat

20 to 30

0

55 to 75

100 to 400

1000

–1000

–100 to –40

CNS, central nervous system; CSF, cerebrospinal fluid; HU, Hounsfield unit.

1002

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

D

Figure 24-54  Near drowning/cardiac arrest; diffuse cerebral edema. Unenhanced axial CT images of a patient after cardiac arrest from near drowning delineate effacement of the fourth ventricle (A, arrow), effacement of the perimesencephalic cisterns (B, arrow), ischemic changes in the basal ganglia (C, arrow), and partially effaced lateral ventricles (D, arrow). On each of the images there is loss of gray/white matter differentiation and sulcal effacement.

Systemic factors that may lead to nephrotoxicity from iodin­ ated contrast include the following: dehydration, anuria, cre­ atinine greater than 3 mg/dL, diabetes, hepatorenal syndrome, multiple myeloma, metformin (Glucophage) use. If MRI is not readily available or feasible in a reasonable period of time, CE-CT imaging should be considered if infec­ tion or tumor is suspected. It is also an adjunct to PET imaging if concern for tumor exists. When a CSF leak is suspected, in complicated hydrocephalus, or in the presence of intracranial cysts concerning which questions of communication arise, the examination may require subarachnoid or intraventricular contrast for diagnosis. Contraindications to CE-CT imaging include the following: allergy to iodinated contrast material, acute renal failure (chronic renal dysfunction may be a relative contraindication), and trauma with vascular injury. If vascular injury is sus­ pected, an unenhanced CT scan should first be obtained because contrast may obscure hemorrhage (Fig. 24-58).

Intracranial and Extracranial CT Angiography and CT Venography Computed tomography angiography (CTA) and computed tomography venography (CTV) provide detailed anatomic information about the cranial vasculature. This is particularly

valuable in trauma to assess arterial and/or venous injury, and in evaluating acute neurologic deficits by examining the vas­ culature for stenosis, dissection, or vascular malformation (Fig. 24-59). Tumors involving intra- or extracranial sites or the skull base can be evaluated for their vascularity or their relationship to adjacent structures (Fig. 24-60). In patients with subarachnoid hemorrhage due to aneurysms, CT angiog­ raphy may delineate aneurysms in patients who are poor candidates for traditional angiography or digital subtraction angiography (DSA), or direct the focus of subsequent DSA. Postoperative evaluation of patients with aneurysms or arterial venous malformations by CTA or CTV may be better than by MRI. CTA is also valuable in assessing intracranial infection with possible venous thrombosis (Fig. 24-61).

CT of the Paranasal Sinuses, Facial Bones, Skull Base, Orbits, Temporal Bones, Neck, and Spine CT imaging of the skull and facial bones includes evaluation of the paranasal sinuses, particularly with acute or chronic sinus disease and in preparation for surgery with medically refractive sinus disease. Imaging usually does not include Text continued on page 1007

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Figure 24-55  A, Accidental head trauma. Left: Unenhanced axial CT image at the level of the lateral ventricles delineates a large right hyperdense epidural hematoma (arrow), with midline shift/subfalcine herniation, right to left (double-headed arrow), effacement of right lateral and third ventricles, and early obstruction of the left lateral ventricle. Right: Axial image at the same level on the bone window setting delineates a nondisplaced fracture of the right frontal bone (arrow). B, Nonaccidental trauma. Top left: Unenhanced axial CT image at the level of the lateral ventricles delineates a left subdural hematoma (top arrow), effacement of the left lateral ventricle, and superficial scalp hematoma (bottom arrow). Top right: Axial CT image at the same level on the bone window setting delineates a nondisplaced right parietal fracture (arrow). Bottom left: Three-dimensional reconstruction of the calvarium, viewed from the vertex, with the extent of the fracture well delineated. Bottom right: Three-dimensional reconstruction of the calvarium, viewed from the left lateral projection with delineation of the full extent of the fracture from the coronal to lambdoid suture. Double-headed crooked arrow, coronal suture; straight arrow, sagittal suture; Z line, lambdoid suture.

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Figure 24-56  Macrocephaly noted at well-baby visit. Axial CT image at the level of the lateral ventricles delineates prominent lateral ventricles (bold arrow) and prominent anterior extraaxial spaces (thin arrow). Typical appearance for benign extraaxial collections of infancy, a benign self-limiting process.

Figure 24-57  Patient with shunted hydrocephalus: Progressive hydrocephalus, probable shunt malfunction. A, Axial CT image at the level of the lateral ventricles delineates dilated lateral ventricles with shunt in the frontal horn of the left lateral ventricle (short thick arrow). Sulci are visualized (dashed arrows). B, Axial CT image at the same level several days later, showing enlarged lateral ventricles with shunt position unchanged (short thick arrow), and effacement of sulci (dashed arrows).

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B Figure 24-58  Patient presenting with seizure. A, Unenhanced CT at the level of the temporal horns of the lateral ventricles delineates a large, hyperdense, left frontal lobe intraparenchymal hematoma. Significant mass effect and dilatation of the right temporal horn/obstructive hydrocephalus are visible. B, Contrastenhanced examination performed on the same day shows marked relative hypoattenuation of the hematoma.

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Figure 24-59  Patient presenting with left upper extremity weakness, left facial droop, and difficulty speaking. A, Axial CT source image from computed tomography angiography (CTA); arrow points to flap/dissection (thin gray line) in the lumen of the right internal carotid artery. B, Axial image just below the dissection shows a relatively narrow caliber of the right internal carotid artery (arrow) when compared with the left internal carotid artery. C, Coronal reconstruction of CTA delineates flap/dissection (arrow) in right internal carotid artery. D, Coronal reconstruction indicating normal appearance of the left internal carotid artery.

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Figure 24-60  Patient presenting with nasal speech and cranial nerve deficits. A, Axial contrast-enhanced CT on the soft tissue window setting, at the level of the skull base, delineates a large soft tissue mass (arrows) centered at the clivus and both anterior and posterior to it (i.e., intracranial extension). B, Axial image on the bone window setting delineates associated bone erosion (solid arrows) and invasion of the left jugular foramen (dashed arrow). C, Sagittal soft tissue reconstruction delineates extent of the mass both into the naso- and oropharynx as well as its intracranial extension (arrows). D, Sagittal reconstruction on the bone window setting delineates the extent of clival erosion (arrows).

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Figure 24-61  Patient presenting with change in mental status with sinus thrombosis. A, Unenhanced CT delineates a hyperdense anterior portion of the superior sagittal sinus (arrow), suggesting venous sinus thrombosis. B, Contrast-enhanced CT confirms lack of opacification of the anterior portion of the superior sagittal sinus (arrow) and associated areas of cortical hypodensity/ischemia (diverging dotted arrows).

intravenous contrast. However, if intracranial or intraorbital extension is suspected, then a contrast-enhanced scan is indi­ cated (see Chapter 23, Fig. 23-62). CT imaging is indicated for examination of the facial bones and skull base after trauma (Fig. 24-62), suspected infection (CE examination indicated), and facial anomalies (reconstruction with high-resolution 2D and 3D images) (Fig. 24-63). In the setting of a suspected mass, a CE examination should be performed. If a vascular or primary dental lesion is suspected, a targeted unenhanced image in the area of interest before intravenous contrast is recommended to assess for calcifications and/or bone matrix because prior administration of contrast may obscure these findings (e-Fig. 24-12). Imaging of the orbits is indicated in trauma, congenital anomalies (Fig. 24-64), and infection (CE examination is indi­ cated; see Chapter 23, Fig. 23-62). In the setting of leukocoria or suspected tumor, imaging before and after contrast to deter­ mine the presence of calcifications is important, particularly if retinoblastoma is suspected (Fig. 24-65). Proptosis, with or without possible infection, warrants CT imaging. CT images of the temporal bones may be diagnostic after trauma (Fig. 24-66), infection (e-Fig. 24-13), hearing loss (e-Fig. 24-14), cranial nerve deficits, or if a temporal bone tumor is suspected (Fig. 24-67). CE examinations are indicated in infection and suspected tumor. When swelling of the soft tissues of the neck is evaluated, a CE examination is indicated to examine for infection, lymph­ adenopathy, masses, or metastases (Fig. 24-68). Indications for CT examination of the spine include trauma (e-Fig. 24-15) and complex spinal anomalies. CT imaging may be used as a complementary examination to MRI in evaluating anomalies (e-Fig. 24-16) and infection, to assess bone erosion and destruction, and posttreatment healing (Fig. 24-69). These studies of the spine are generally done without intravenous or intrathecal contrast. When MRI is not available, the only clini­ cal indications for contrast-enhanced CT of the cervical spine are for suspected infarction, diskitis, abscess, or tumor (Fig. 24-70).

Intrathecal contrast imaging of the spine is indicated to evaluate the position and integrity of an intraspinal catheter, delineation and localization of a suspected thecal sac arach­ noid cyst (complementary examination to MRI), and in patients in whom MRI studies are suboptimal with possible disk her­ niation or canal stenosis associated with radicular pain or who may have suspected arachnoiditis.

CURRENT ROLE OF MRI IN CNS IMAGING MRI of the brain is now the modality of choice in almost all suspected nontraumatic intracranial pathology. In evaluation of the spine, head, and neck, it is equal to and often superior to CT in imaging many disease entities. In certain cases, a supplementary CT examination may be required for evalua­ tion of the presence of calcifications, bone matrix, and bone remodeling or destruction, the appearance of which may allow a more definitive preoperative or pretreatment differential and/or diagnosis. In ordering a contrast-enhanced MRI the patient’s clinical history, history of allergies, renal function, hydration status, and medications should be known and reviewed. Allergic reactions to gadolinium-based contrast agents (GBCAs) are rare in the pediatric population. However, in patients with renal dysfunction or acute renal failure, contrast enhancement may place them at risk for the development of nephrogenic systemic fibrosis (NSF; see Nephrogenic Systemic Fibrosis in Children, earlier, and see e-Table 24-6). Metallic objects often produce signal distortion and field distortion artifacts. This may render an examination subopti­ mal or possibly nondiagnostic. In the pediatric population the most common cause of suboptimal or nondiagnostic MRI examinations is dental braces and retainers; a diagnostic examination of the orbits, face, and sinuses or skull base is not possible in their presence. Intra- and extracranial MRA and MRV are also markedly degraded and often nondiagnostic. Routine sequences of the brain are variably compromised but

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Figure 24-62  Trauma to the face: Naso-orbital ethmoidal complex fractures. A, Axial CT image on soft tissue window delineates extent of soft tissue injury to the orbit. Arrow points to a hematoma and displacement of the medial rectus muscle. B, Axial image on the bone window setting delineates complex, comminuted, and displaced fractures of the medial orbital walls/lamina papyracea (posterior arrows) and cribriform plate (anterior arrows). C, Coronal reconstruction delineates the complex comminuted fractures, which also include the frontal sinuses and fovea ethmoidalis (diverging arrows) and left orbital roof (upper arrow), and redemonstrates the extensive fracture of the medial orbital wall/lamina papyracea (lower arrow). D, Lateral view of the 3D reconstruction demonstrates the marked posterior displacement of the nasoethmoidal complex (long arrow) in relation to the frontal sinus/frontal bone (short arrow).

Figure 24-63  Newborn presenting with fusion of gums: Syngnathia. Threedimensional reconstruction of the calvarium and face demonstrates lower facial hypoplasia due to maxillary and mandibular hypoplasia (long arrows) and their midline fusion (short midline arrow).

Figure 24-64  Infant with right proptosis: Bilateral colobomas. Axial image through the orbits delineates a large right orbital cyst (arrow) with connection to a hypoplastic proptotic globe. On the left there is a small orbital cyst with a relatively normalappearing globe (arrow).

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Figure 24-65  Patient with leukocoria/white eye reflex: Retinoblastoma. A, Unenhanced axial CT of the orbits demonstrates a calcified mass in the posterior aspect of the right globe (arrow). B, Contrast-enhanced CT of the orbits demonstrates an enhancing soft tissue component to the mass.

Figure 24-66  Head injury with hemotympanum. Axial unenhanced CT image through the left temporal bone demonstrates a transverse fracture (arrows) with ossicular dislocation (note separation of the malleus and incus on the left in comparison with the right “ice cream scoop separated from cone”); fracture traverses through the expected tympanic course of the facial nerve (dotted line) and through the internal auditory canal/inner ear. Associated opacification of the left middle ear and mastoid and pneumocephalus are also seen.

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Figure 24-67  Patient presenting with left facial palsy: Hemangioendothelioma at surgical resection. A, Axial CT through the temporal bone set on the bone window setting demonstrates a large destructive mass of the left petrous bone at the level of the geniculate ganglion/first turn of the facial nerve (arrow). Opacification of the left middle ear and mastoid is related to extension of the mass into the eustachian tube. B, Contrast-enhanced CT on the soft tissue window setting at the same level delineates heterogeneous enhancement of the mass (arrow).

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Figure 24-68  Patient presenting with new neck mass: Thyroglossal duct cyst. A, Axial contrast-enhanced image through the neck just below the level of the hyoid demonstrates a discrete cystic mass, just to the right of midline, without a discernible wall or enhancement (solid arrow). The mass is intimately associated with the adjacent strap muscles (dotted arrow). B, Sagittal reconstruction delineates the mass at the level of the fiducial placed to localize the mass (arrow).

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usually diagnostic. Gradient echo and diffusion images are usually severely compromised. In addition, there are metallic objects/implants that may pose a hazard either to the patient (e.g., aneurysm clips) or to the function of the implant (e.g., pacemakers or cochlear implants). MRI safety screening is performed on all patients and accompanying parents/family. It is imperative that in cases of prior surgery or interventional procedures and the possible presence of implants, information about the implants be available at the time of scheduling of the MRI examination. The prospective MRI compatibility and clearance of any implants can then be determined, and will preclude the MRI

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examination from being deferred or canceled on the patient’s arrival.

Newer MRI Sequences and Their Utility New, improved, and faster magnetic resonance imaging sequences and modalities have been developed for assessing anatomy, pathology, and function. FLAIR—fluid attenuation inversion recovery sequence: By attenuating signal from CSF, sensitive delineation of foci of signal abnormality adjacent to the ventricles and sub­ arachnoid space are better defined.

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Figure 24-69  Patient presenting with back pain and neurologic deficits. At resection: Aneurysmal bone cyst. A, Axial contrast-enhanced image on a soft tissue window setting through the lower thoracic spine delineates a heterogeneous expansile destructive mass (solid arrows) involving the vertebral body and more extensively the posterior elements with intraspinal encroachment. Fluid–fluid levels (dotted arrows) are suggested within the mass. B, Same axial image on a bone window setting delineates bone expansion/remodeling and destruction. C, Sagittal reconstruction on a soft tissue window setting delineates the marked narrowing of the spinal canal and thecal sac (arrows) by the mass.

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Figure 24-70  Patient, presenting with neck pain, Fusobacterium necrophorum–induced sepsis. A, Contrast-enhanced axial CT through the upper neck delineates a clot (arrow) in the right jugular vein. B, Axial contrast-enhanced image just below delineates right anterior rim, enhancing epidural fluid collection. The diagnosis was Lemierre disease with epidural abscess.

GRE (T2*)—gradient echo sequence: By enhancing mag­ netic susceptibility, sensitive delineation of hemorrhage and vascular malformations, calcifications, and iron deposition is possible. DWI/DTI—diffusion-weighted imaging and diffusion tensor imaging sequences: By using differences in the rates and direction of diffusion of water molecules in normal and abnormal tissues, diffusion imaging allows sensitive detection and evaluation of acute cerebral injury in ischemia/hypoxia, trauma, metabolic disorders, and infection. It allows more sensitive monitoring of markers of brain maturation in the neonatal period. It may also suggest the grade of intracranial tumors. Tensor imaging uses anisotropy/direction to map axonal tracts, allowing evaluation of their course; caliber; and assessment of possible disruption, displacement, or anomalous path­ ways. This supplementary information to anatomic MRI results in more sensitive and sophisticated assessment of neurologic deficits, and the preoperative localization of “eloquent” tracts, that is, important functional regions, in relation to tumors and other brain lesions. 3D GRE—high-resolution T1-weighted gradient echo sequence: This technique provides sensitive delineation of brain injury in neonates, brain lesions and cortical dysplasias, and preoperative localization of tumors. STIR—fat-suppressed short T1 inversion recovery sequence: By suppressing the signal of fat, sensitive delineation of lesions in areas where fat/lipomatous tissue is present, such as in the orbits, face, skull base, neck, and spine, becomes possible. MRA/MRV—magnetic resonance angiography and veno­ graphy; examples include 3D and 2D time-of-flight (TOF) and phase-contrast (PC) angiography and 2D TOF and PC venography: These methods may be used to delineate areas of stenosis, luminal irregularity or occlusion, direc­ tion of flow, vascular malformations, and aneurysms. MRS—magnetic resonance spectroscopy: MRS may be used to assess the distribution and quantification of naturally occurring molecules within the CNS. Various techniques are available. The most commonly used is the pointresolved spectroscopy sequence (PRESS). Both short TE

(echo time) and long TE acquisitions can be obtained. All provide sensitive noninvasive analysis of brain metabo­ lites and cellular biochemical changes, used in assessing brain maturation, brain ischemia, injury, and encepha­ lopathy. In these entities it may also provide prognostic information. In the diagnosis and characterization of inborn errors of metabolism, it may not be specific but may help to narrow the entities to be considered. Another indication is preoperative characterization and possible diagnosis of brain tumors as well as their postoperative and posttherapeutic assessment (Fig. 24-71). PMRI—perfusion magnetic resonance imaging: Dynamic contrast-enhanced T2* or unenhanced techniques such as arterial spin labeling (ASL) and blood oxygen level– dependent (BOLD) sequences are used. Sensitive delinea­ tion of relative cerebral blood flow with evaluation of cerebral blood volume (CBV), cerebral blood flow (CBF), and mean transit time (MTT) in targeted areas of the brain is possible. PMRI is used primarily in assessing ischemic areas of the brain. It can also be used in dif­ ferentiating tumor progression from posttreatment changes. fMRI—functional magnetic resonance imaging: fMRI local­ izes function to anatomic areas. The most widely used technique is the BOLD sequence. This relies on local changes in cerebral blood flow and changes in oxyhemo­ globin and deoxyhemoglobin with targeted brain activa­ tion. Cortical activation by a focal task, or by a visual or auditory stimulus, results in local increased metabolic demand and hence an increase in local blood flow, which raises the concentration of oxyhemoglobin and decreases the concentration of deoxyhemoglobin. The decrease in deoxyhemoglobin results in an increase in signal inten­ sity. Subtraction of pre- and postactivation images results in localization of the area of the brain activated by the task or stimulus. It can be used in preoperative delinea­ tion of “eloquent” areas before resection of brain tumors or vascular malformations as well as cortical dysplasias and other seizure foci. It is also used in assessing cogni­ tion, language, and motor skill acquisition and behav­ ioral dysfunction.

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Normal Brain Spectra Occipital Gray Matter

Parietal White Matter NAA

NAA Spectrum LCModel fit

tCho Cr

tCho Cr

ml Cr

4

Cr

Glu/Gln

3

2 Frequency (ppm)

1

ml

4

Glu/Gln

3

2 Frequency (ppm)

1

Figure 24-71  Normal brain spectra. Cr, creatine; Glu/Gln, glutamate/glutamine; mI, myo-inositol; LCModel, a program for the automatic quantitation of in vivo proton MR spectra; NAA, N-acetylaspartate; tCho, total choline.

RARE—rapid acquisition relaxation-enhanced technique, such as single-shot fast spin-echo (SSFSE) and halfFourier acquired single-shot turbo spin-echo (HASTE), as well as other fast and ultrafast techniques: These allow rapid scanning of the entire pediatric brain. They are adequate for assessing ventricular size and shunt posi­ tion in patients with shunted hydrocephalus. These sequences do not allow adequate delineation and diag­ nosis of other brain pathology. Table 24-10 shows signal characteristics of CNS tissues on various MRI sequences. e-Table 24-9 delineates the appearance of blood at various stages of hemorrhage. e-Table 24-10 lists metabolites detected in the brain by MR spectroscopy.

In patients with stroke, MRI along with MRA, MRV, and PMRI can assess location/territory, size, area at risk, and underlying vascular disease or anomalies (Fig. 24-73). Addi­ tion of MRS to MRI may provide information as to the etiol­ ogy of perinatal ischemia or seizures (Fig. 24-74) or prognostic information in severe traumatic brain injury (eFig. 24-17). Adrenoleukodystrophy (ALD) is one of the few entities for which a contrast examination may provide impor­ tant information. Although MRS often is not specific, the pattern may be suggestive of a distinct group of entities (Fig. 24-75).

Contrast-enhanced MRI of the Brain

CLINICAL INDICATIONS FOR MRI IN CNS IMAGING Unenhanced MRI of the Brain Ultrafast, multiplanar targeted MRI can be used as an alter­ native to CT for routine follow-up of hydrocephalus, and evaluation of ventricular size and shunt position (Fig. 24-72).

Contrast-enhanced magnetic resonance imaging (CE-MRI) can provide anatomic detail in a variety of disorders including phakomatoses such as neurofibromatosis, Sturge-Weber syn­ drome, tuberous sclerosis, and others (e-Fig. 24-18). CE-MRI can depict associated cerebritis or abscess, empyema, or parenchymal ischemia related to vascular involvement (e-Fig. 24-19). MRA and MRS may augment CE-MRI in the setting of vascular malformation (Fig. 24-76), brain tumors (particularly

Table 24-10 Signal Characteristics of CNS Tissues Examined by Various Magnetic Resonance Imaging Sequences CSF

Gray Matter

White Matter

Fat

Lesions

T1 T2 FLAIR DWI ADC

Dark-hypointense Bright-hyperintense Dark-hypointense Dark-hypointense Bright-hyperintense

Rel dark-hypointense Rel bright-hyperintense Rel bright-hyperintense Rel bright-hyperintense Rel bright-hyperintense

Rel bright-hyperintense Rel dark-hypointense Rel dark-hypointense Rel dark-hypointense Dark-hypointense

Bright-hyperintense Bright-hyperintense Bright-hyperintense Dark-hypointense Bright-hyperintense

GRE

Bright-hyperintense

Rel bright-hyperintense

Rel dark-hypointense

Rel dark-hypointense

STIR

Bright-hyperintense

Rel bright-hyperintense

Rel dark-hypointense

Dark-hypointense

Variable; majority dark-hypointense Variable; majority bright-hyperintense Variable; majority bright-hyperintense Variable; majority bright-hyperintense Variable Bright-hyperintense: Vasogenic edema, low-grade tumor Dark-hypointense: Cytotoxic edema/ischemia and high-grade tumors Variable Bright-hyperintense: Majority Dark-hypointense: If blood, fat, or calcium present Variable; majority bright-hyperintense

ADC, apparent diffusion coefficient mapping; CSF, cerebrospinal fluid; DWI, diffusion-weighted imaging; FLAIR, fluid attenuation inversion recovery; GRE, gradient echo; Rel, relatively; STIR, short tau inversion recovery.

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Figure 24-72  Patient presenting with possible shunt malfunction. A, Axial, and B, T2 single-shot fast spin-echo (SSFSE) acquisitions, each taking less than 1 minute to run, suffice for assessing ventricular size and shunt position (arrows) without radiation.

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B Figure 24-73  Patient presenting with new-onset neurologic symptoms; rule out stroke. A, Left: Axial fluid attenuation inversion recovery (FLAIR) image at the level of the basal ganglia delineates relative hyperintensity in and swelling of the left basal ganglia and adjacent insular cortex (arrows). Right, top and bottom: Diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) images at the same level demonstrate hyper- and hypointensity, that is, restricted diffusion. Acute stroke. B, Two maps: Time to peak (left) and cerebral blood flow (right), from the perfusion study obtained. Note the asymmetry between the two cerebral hemispheres.

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Figure 24-74  Patient presenting after profound perinatal hypoxia. A, Axial T2 image at the level of the basal ganglia. Extensive hyper- and hypointensity in the basal ganglia and thalami are compatible with the clinical history and represent profound hypoxic ischemic injury. B, Magnetic resonance spectroscopy (MRS) delineating decreased N-acetylaspartate (solid arrow), elevated lactate (dotted arrow), and elevated lipid (dash-dotted arrow) compatible with cell death/apoptosis. C, Axial T1 image with corresponding diffuse hyperintensity in the basal ganglia and thalami.

primary brain tumors) (Fig. 24-77), demyelinating or inflam­ matory disease, or acute change in mental status (Fig. 24-78).

relationships to tumors (Fig. 24-79); and vascular complica­ tions of infection (e-Fig. 24-22).

Intracranial and Extracranial MR Angiography and MR Venography

Additional Indications for MRI of the Head

MRA and MRV offer detailed information in a variety of clini­ cal settings, including vascular relationships and integrity. These include, in part, stroke, vascular dissection, stenosis, luminal irregularity, occlusion, moyamoya disease, and vascu­ lar malformations (e-Figs. 24-20 and 24-21); vascular

The following examinations and clinical indications should be ordered as such, and not as an MRI of the brain with clinical indication provided. The majority are performed with con­ trast. Many entities will require CT as well for delineation of osseous involvement and the presence of calcifications.

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Figure 24-75  Patient with developmental delay: Leukodystrophy of unknown etiology. A, Axial T2 image at the level of the lateral ventricles delineates diffuse hyperintensity and relative paucity of white matter. Abnormally hypointense basal ganglia. B, Comparison image of the brain of a child of the same age with normally myelinated white matter, which is hypointense on a T2 sequence. Normal signal characteristics of basal ganglia. Genetic testing and magnetic resonance spectroscopy (MRS) were nonspecific.

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Figure 24-76  Neonate presenting with congestive heart failure. A, Axial T2 MR image at the level of the lateral and third ventricles delineates marked dilatation of the vein of Galen/straight sinus (black arrow) and enlarged tortuous adjacent feeding vessels (white arrows) arising from both the anterior and posterior circulation. B, T2 coronal image of the findings in (A). C, Coronal source image from magnetic resonance venography (MRV) delineates not only the intracranial findings but also the associated markedly dilated neck vessels (arrows), which account for the congestive heart failure. D, Lateral projection from the MRV reconstruction showing venous drainage into the superior sagittal sinus (dashed arrow) as well as transverse and sigmoid sinuses and jugular veins (solid arrows).

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• MRI of the orbits for congenital anomalies, tumors, infec­ tion, pain, or proptosis: The latter evaluation should determine the extent (intra- or extracoronal) and possible etiologies of proptosis, such as thyroid orbitopathy, pseu­ dotumor, or tumor. • Temporal bone MRI: Indications include sensorineural hearing loss to assess inner ear structures for congenital anomalies, labyrinthitis ossificans, and lesions of the cochlear nerve (Fig. 24-80). MRI is valuable in assessing disorders causing facial nerve palsies, tinnitus and dizzi­ ness, and middle ear and mastoid infections, and particu­ larly in evaluating for intracranial or neck extension or vascular complications. • Examination of the skull base, face, and sinuses by MRI for tumors, cranial nerve palsy, and infection: Allows assessment of size and extent, perineural spread, and venous complications such as cavernous sinus involve­ ment (e-Fig. 24-23). MRI of the Pituitary and Hypothalamic Region Neuroendocrine abnormalities with hypothalamic or pituitary dysfunction are amenable to evaluation by MRI, which can be used to assess pituitary size and anatomy, for example, the

presence of the pituitary stalk and neurohypophysis, as well as adjacent structures (Fig. 24-81). MRI of the Neck and Spine Indications for MRI of the neck include palpable masses, sus­ pected metastatic disease, pain, dysphagia, and hoarseness. Unenhanced MRI of the spine is done to evaluate the spinal cord, canal, osseous elements, ligaments, and paraver­ tebral muscles. Indications include trauma (Fig. 24-82), anomalies (e-Fig. 24-24), pain, radiculopathy, and marrow abnormalities. Enhanced MRI of the spine should be performed if infection or inflammation is suspected (Fig. 24-83), or in the presence of a primary or metastatic tumor. Intraspinal, osseous, or paravertebral areas should be examined for involvement.

NUCLEAR MEDICINE IMAGING Single-photon Emission Tomography Single-photon emission computed tomography (SPECT) is done with a gamma camera mounted on a special gantry that can rotate a full 360 degrees around the patient, who has been

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Figure 24-77  Infant presenting with increasing head size and change in mental status. A, Axial T2 MR image at the level of the lateral and third ventricles delineates ventricular dilatation (solid arrow) and a large heterogeneous intraventricular mass (dashed arrows). B, Axial fluid attenuation inversion recovery (FLAIR) image at the same level better delineates the adjacent hyperintense edema and transependymal flow of cerebrospinal fluid. C, Contrast-enhanced T1 image delineates heterogeneous enhancement of solid and cystic components. D, Magnetic resonance spectroscopy (MRS) delineates elevated lactate and lipid peaks (divergent arrows), decreased N-acetylaspartate peak (long solid arrow), and elevated choline peak (short solid arrow); all of which may be seen in many tumors. An elevated myo-inositol peak (dashed arrow) is present, strongly suggestive of choroid plexus papilloma, proven at pathology.

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Figure 24-78  Previously well patient presenting with seizures and profound mental status change after an upper respiratory tract infection. A, Axial T2 MR image at the level of the basal ganglia delineates marked swelling and hyperintensity in the thalami (solid arrow) and posterior cortex/occipital lobes (dashed arrow). B, Coronal T2 image delineates additional involvement of the brainstem (solid arrow) and the cerebellum (dashed arrow). Other sequences also demonstrated restricted diffusion and petechial hemorrhage. The constellation and distribution of findings is most suggestive of acute necrotizing encephalopathy of childhood.

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Figure 24-79  Patient presenting with syncope: Meningioma. A, Axial contrast-enhanced T1 image at the level of the lateral ventricles delineates a large, avidly enhancing left frontal mass (thick arrows) abutting the sagittal sinus (thin arrow). Note the significant mass effect on the lateral ventricles and subfalcine herniation. B, Coronal reconstruction of magnetic resonance angiography (MRA) indicates marked displacement and draping of the anterior cerebral artery and middle cerebral arteries about the mass  (solid thick arrows). Thin arrow points to the sagittal sinus and the dashed arrow indicates a draining vein.

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Figure 24-80  Patient with sensorineural hearing loss and cochlear dysplasia on CT: Cochlear nerve aplasia. A, Oblique sagittal FIESTA (fast imaging employing steadystate acquisition) sequence through the internal auditory canals on the normal side. Solid upper arrow points to the facial nerve. Solid horizontal arrow points to the superior and inferior vestibular nerves. Dashed arrow points to the cochlear nerve. B, Side with cochlear dysplasia: dashed arrow points to the expected location of the cochlear nerve, which is not present.

Figure 24-81  Three-year-old patient presenting with pituitary dysfunction: Panhypopituitarism. Sagittal midline T1 MR image delineates a “bright spot,” the posterior pituitary/neurohypophysis, not in the posterior aspect of the sella as expected but just posterior to the chiasm at the expected location of the proximal stalk (arrow). The stalk is absent and the pituitary gland is small, indicating ectopic posterior pituitary with interruption of the stalk. Thinning of the posterior aspect of the corpus callosum is related to periventricular leukomalacia in this patient, who was premature.

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Figure 24-82  Trauma: Ligamentous flexion injury. A, Sagittal midline T1 MR image of the cervical spine delineates marked reversal of cervical lordosis (solid arrow) and splaying of the spinous processes. B, Sagittal short tau inversion recovery (STIR) image at the same level better delineates the hyperintense prevertebral edema (solid arrow) and the hyperintense epidural hematoma (dashed arrow) that markedly compresses the cord. C, Axial T1 image delineates the epidural hematoma and the compressed cord and thecal sac surrounded by the hypointense dura (solid arrow). D, Axial T2 image at same level delineates the hyperintense epidural hematoma (solid arrows) and compressed cord.

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A

B

C

D

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Figure 24-83  Patient presenting with back pain and fever: Osteomyelitis and epidural abscess. A, Sagittal midline T2 MR image of the lumbar spine delineates relative hyperintensity in the L4 vertebral body (solid arrow) and an epidural collection (dashed arrow). B, Sagittal T1 image at the same level delineates corresponding hypointensity in the L4 vertebral body (solid arrow) and the epidural collection (dashed arrow). C, Axial T2 image at the level of L4 demonstrates an abnormal signal/hyperintensity in the vertebral body (solid arrow). D, Contrast-enhanced T1 fat-saturated image at the same level delineates enhancement of the L4 vertebral body (solid arrow) and enhancement of the epidural collection with a small central focus of fluid hypoattenuation (dashed arrow).

injected with a gamma-emitting radioisotope (called a radio­ nuclide); image acquisition is done at multiple angles. Using these data, SPECT images can be reconstructed and displayed as coronal, sagittal, or transverse slices. The major advantage of SPECT is its superior contrast and anatomic delineation compared with conventional planar imaging. SPECT/CT is a hybrid form of imaging modality combining SPECT with CT, which can provide better anatomic localization and attenua­ tion correction.

away from each other at almost 180 degrees. Most PET systems have a dozen to several hundred detectors arranged in a cir­ cular or polygonal configuration. Only two coincident photons reaching two opposite detectors at the same time are registered in the system, ultimately resulting in an electrical current allowing image reconstruction. PET/CT is a hybrid imaging modality that provides better anatomic localization of findings on functional images and faster image acquisition than con­ ventional PET alone.

Positron Emission Tomography

Gamma Camera

Positron emission tomography (PET) is a specialized modality used to image the high-energy photons of positron-emitting tracers such as 18F, 11C, 13 N, and 15O. Positrons (positive elec­ trons) travel a few millimeters into tissue before colliding with negative electrons. This colliding event (called annihilation) results in the creation of two 511-keV photons, which travel

The gamma camera, also called a scintillation camera or Anger camera, is an imaging device used to image gamma radiation– emitting radioisotopes. This technique is known as scintigra­ phy and is used to image and analyze the distribution of gamma-emitting radionuclides medically introduced into the human body. The gamma camera consists of a collimator, a

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crystal plane, and an array of photomultiplier tubes connected to a computer system. The collimator is typically a single plate of lead or tungsten with many holes through it; this allows only photons traveling parallel to the collimator holes to reach the crystal, which is located behind the collimator. Once photons reach the crystal, they are absorbed into the crystal and this absorbed energy is emitted as flashes of light, a process called scintillation. The brightness of light is propor­ tional to the energy absorbed by the crystal. The light flashes are converted into an electronic signal that is ultimately pro­ cessed to produce an image.

Radiopharmaceuticals A radiopharmaceutical is a molecule (the pharmaceutical) incorporating a radioactive tracer (the radionuclide, or radio­ isotope); it is designed to be used in the diagnosis of a physi­ ologic or pathologic process and for the treatment of disease. Typically, radiopharmaceuticals do not elicit a physiologic or pharmacologic reaction and do not impact the physiologic process being measured. Radioisotopes commonly used in nuclear medicine are either gamma or beta emitters. Gamma emitters are suitable for imaging because the gamma photons emitted travel a longer path and have a higher capacity to penetrate matter. Beta emitters are more suitable for treatment because the beta particles emitted have a shorter traveling path and less ability to penetrate matter.

A summary of radiation exposure from pediatric nuclear medicine procedures is given in Table 24-11. Technetium-99m The principal radioactive tracer in nuclear medicine is technetium-99m (99mTc; the “99” indicates the atomic weight and the “m” stands for metastable). Its availability, short halflife (6 hours), and ideal gamma energy emission make radio­ pharmaceuticals incorporating 99mTc suitable for standard gamma camera imaging. PET Radiopharmaceuticals PET radiopharmaceuticals have the same components of radioisotope atom and larger molecule as other radiopharma­ ceuticals, except that positron-emitting radioisotopes are used instead of gamma or beta emitters. Positron-emitting radionu­ clides include carbon-11 (11C), oxygen-15 (15O), and nitrogen-13 (13N), and these can be combined with various biologic tracers to image physiologic or metabolic processes. 18

F-FDG (Fluorodeoxyglucose) One of the most commonly used PET radiopharmaceuticals is fluorodeoxyglucose, commonly abbreviated 18F-FDG or FDG, a glucose analog, with the positron-emitting radioactive isotope fluorine-18 taking the place of the normal hydroxyl group at the 2′ position in the glucose molecule. In the absence of this 2′ hydroxyl group, which is needed for glycolysis, FDG cannot be further metabolized in cells after phosphorylation.

Table 24-11 Radiation Exposure from Pediatric Nuclear Medicine Procedures EFFECTIVE DOSE (MSV) AT AGE:

Procedure Cardiovascular

99m

Tc-sestamibi (rest) Tc-sestamibi (stress) F-FDG viability 99m Tc-MUGA 99m Tc-MAA perfusion 99m Tc-DTPA ventilation 133 Xe ventilation 99m Tc-MAG3 renogram 99m Tc-DTPA renogram 99m Tc-DMSA Hepatobiliary 99mTc-IDA Liver/spleen 99mTc-sulfur colloid Spleen 99mTc-labeled denatured RBC GI bleeding 99mTc-labeled RBC 99m Tc-pertechnetate Meckel diverticulum scan 99m Tc-sulfur colloid gastric emptying 99m Tc–HMPAO-labeled WBC 111 In-labeled WBC 67 Ga-citrate 99m Tc-MDP Brain SPECT 99mTc-ECD Brain SPECT 99mTc-HMPAO Brain 18F-FDG PET 123 I thyroid uptake scan 99m Tc-pertechnetate thyroid scan 99m Tc-sestamibi parathyroid scan 123 I-MIBG Body 18F-FDG PET 99m 18

Respiratory Genitourinary Gastrointestinal

Infection Bone CNS Endocrinology Oncology

Dose Administered (mCi/kg) 0.15 0.35 0.14 0.26 0.07 Fixed dose: 40-60 mCi 0.3 0.15 0.1 0.05 0.05 0.05 0.06 0.21 0.05 Fixed dose: 0.5 mCi 0.2 0.007 0.05 0.25 0.29 0.29 0.14 0.0033 0.15 0.32 0.14 0.14

1 Year (10 kg)

5 Years (20 kg)

10 Years (33 kg)

3.9 6.7 4.9 14.4 1.6 2.4 0.6 1.2 0.6 0.7 1.9 0.9 16.3 5.8 1.5 2.6 4.6 8.3 23.7 2.5 14.8 18.1 4.9 3.7 4.4 27.5 3.5 4.9

3.1 6 5.2 7.8 1.8 1.3 0.6 1.3 0.7 0.8 1.7 1 9.6 3.3 1.6 1.4 5 9.3 12.2 2.6 8.1 10 5.2 2 4.7 14.5 3.8 5.2

3.3 6.8 6.2 5.2 2 0.9 0.6 2.2 1 0.9 1.8 1.1 6.2 3.6 1.6 0.9 5.4 10.3 12.2 3.4 5.6 6.3 6.2 1 4.8 9.3 4.4 6.2

15 Years (57 kg) 3.8 7.4 7.4 4.9 2.4 0.6 0.6 2.8 1.3 1.2 2.2 1.3 7 3.9 1.8 0.6 5.9 11.7 13.7 3.7 6.1 6.7 7.4 1.2 4.4 8.1 5 7.4

Adult (70 kg) 3.3 5.8 6.9 4.7 2 0.5 0.6 2.7 1.3 1.1 2.2 1 6.4 3.8 1.7 0.4 5.7 10.7 13 3.7 5.7 7 6.9 0.9 3.4 7.5 4.7 6.9

Note: Dose is based on the recommendations included in the following: Gelfand MJ, Parisi MT, Treves ST; Pediatric Nuclear Medicine Dose Reduction Workgroup: Pediatric radiopharmaceutical administered doses: 2010 North American consensus guidelines, J Nucl Med 52:318-322, 2011; and Treves ST: Pediatric nuclear medicine/ PET, ed 3, New York, 2006, Springer.Note: For comparison, in the United States, one receives about 3 mSv (300 mrem) of exposure from natural background radiation every year. CNS, central nervous system; DMSA, dimercaptosuccinic acid; DTPA, diethylenetriaminepentaacetic acid; ECD, ethyl cysteinate dimer; FDG, fluorodeoxyglucose;   GI, gastrointestinal; HMPAO, hexamethylpropyleneamine oxime; IDA, iminodiacetic acid; MAA, macroaggregated albumin; MAG3, mercaptoacetyltriglycine; MDP, methylene diphosphonate; MIBG, metaiodobenzylguanidine; MUGA, multigated acquisition; PET, positron emission tomography; RBC, red blood cell; SPECT, singlephoton emission computed tomography; WBC, white blood cell.



Also, the phosphorylated FDG, 18F-FDG-6-phosphate, cannot cross the cell membrane and therefore becomes trapped within the cell, thus representing the distribution of glucose use by metabolically active cells such as in inflammation or malignancy.

Cardiovascular System Myocardial Perfusion Imaging, Using SPECT and PET Myocardial perfusion images are used to evaluate coronary artery blood flow, based on the distribution of radioisotope extracted into the myocardium, which is proportional to myo­ cardial perfusion. Combined rest with exercise or pharmaco­ logic stress images allows detection of hemodynamically compromised coronary artery territories. During exercise, cor­ onary vessels dilate to meet increased oxygen demand and there is a significant difference in the degree of dilation between normal and diseased vessels, creating a relative count deficiency in the myocardium supplied by diseased coronary vessels. Pharmacologic vasodilators (adenosine or dipyridam­ ole) are used for those who have physical limitation; baseline ECG abnormalities such as left bundle branch block or WolffParkinson-White syndrome; and permanent ventricular pacing. Inotropic agents (e.g., dobutamine) are also used for patients who cannot undergo exercise and for whom pharmacologic vasodilators are contraindicated (mainly those with broncho­ spastic airway disease). By the gating technique, wall motion and ejection fraction can be assessed, which increases diag­ nostic accuracy. There are several types of radiopharmaceuticals used for myocardial perfusion SPECT imaging including thallium-201 chloride, technetium-99m sestamibi (Cardiolite), and technetium-99m tetrofosmin (Myoview), used for both exer­ cise and pharmacologic stress tests. Rubidium-82 positron emitters are used for pharmacologic stress myocardial perfu­ sion PET imaging. (PET is not used in exercise stress testing.) Rubidium-82 PET has the highest sensitivity among the myo­ cardial perfusion imaging techniques. Determining Whether a Myocardial Perfusion Scan Is Needed To determine whether a myocardial perfusion scan is indi­ cated, the clinician should do the following: 1. Evaluate specific signs or symptoms that are induced or aggravated by exercise 2. Assess or identify abnormal responses to exercise in chil­ dren with cardiac, pulmonary, or other organ disorders, including the presence of myocardial ischemia and arrhyth­ mias (Kawasaki disease, congenital left main ostial steno­ sis, ALCAPA [anomalous origin of the left coronary artery to pulmonary artery], hypertrophic cardiomyopathy, and cardiomyopathy in Duchenne progressive muscular dystrophy) 3. Assess the efficacy of specific medical or surgical treat­ ments (post–arterial switch operation, tetralogy of Fallot repair, and cardiac transplantation) 4. Assess functional capacity for recreational, athletic, and vocational activities 5. Evaluate the prognosis, including both baseline and serial testing measurements 6. Establish baseline data for the institution of cardiac, pul­ monary, or musculoskeletal rehabilitation The rest images are usually acquired 30 to 60 minutes after intravenous injection of 99mTc-sestamibi/tetrofosmin. For stress

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images, the radiopharmaceutical is injected at peak stress, which is more than 85% of the maximal predicted heart rate on a treadmill for the exercise stress. For pharmacologic stress, the radiopharmaceutical is injected immediately after dipyri­ damole infusion and 2 to 3 minutes after the start of adenosine infusion. The stress images are acquired 10 to 20 minutes after the injection of radiopharmaceutical for exercise stress testing and 45 to 60 minutes after the injection of radiopharmaceuti­ cal for pharmacologic stress testing (Fig. 24-84). Myocardial Viability, Using Thallium-201 SPECT and FDG PET Viable myocardial cells metabolize fatty acid and glucose, and these physiologic characteristics can be used in the assess­ ment of viable myocardium. 18F-fluorodeoxyglucose (FDG) is a glucose analog and is transported from the blood to the myocardial cells, where it undergoes phosphorylation. Phosphorylated FDG becomes trapped inside the myocardial cells without being further metabolized in the tricarboxylic acid (TCA) cycle. Therefore, the distribution of FDG reflects glucose utilization by viable myocardial cells, because only viable myocardial cells with cellular metabolic integrity can use glucose. One of the characteristics of 201Tl is that it is continuously transported into and washed out of viable myocardial cells, a process resulting in redistribution. Therefore, thallium can be used to evaluate viable myocardial cells, and is especially helpful in confirming viable myocardium before planning a revascularization. MUGA Scan or Gated Blood Pool Imaging A multigated acquisition (MUGA) scan is considered the gold standard for calculation of the left ventricular ejection fraction with high reproducibility. The patient’s autologous red blood cells (RBCs) are labeled with technetium-99m and reinjected into the patient. Images of radiolabeled blood within the cardiac chamber are acquired by gamma camera with ECG gating. A MUGA scan is done to determine the ejection frac­ tion in patients receiving chemotherapy (some chemotherapy agents are harmful to the heart) and also to assess cardiac risk before surgery.

Pulmonary System Ventilation/Perfusion Lung Scan Lung perfusion images are acquired with 99mTc-macroaggregated albumin (MAA). Because the mean size of MAA particles (20 to 40 µm) is greater than that of the capillary, these become trapped in the first pulmonary arterial capillary bed they encounter after intravenous injection. Typically 200,000 to 500,000 particles (minimum, 60,000) are injected into adult patients, artificially causing embolization of less than 1% of the pulmonary capillaries. Pediatric patients, patients with pulmonary hypertension, and patients with right-to-left shunt should receive 100,000 particles because they have fewer pul­ monary arterioles. For newborns, the number of particles should not exceed 50,000. Particles lodged in the capillary beds are degraded by enzymatic and macrophage activity within hours, restoring original perfusion. When there is a pulmonary embolus in a certain area, the perfusion to this region is decreased, causing decreased radioactivity on images. For lung ventilation images, 99mTc-diethylenetriaminepentaacetic acid (DTPA) aerosol or 133Xe gas is used. 99mTc-DTPA aerosol ventilation images can provide multiple projections but can image only the initial breath phase of the ventilation. On the other hand, 133Xe gas ventilation images can provide only one projection of the lungs but can image all the

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Figure 24-84  Myocardial perfusion imaging with exercise stress test in an 18-year-old female with Kawasaki disease and left anterior descending artery coronary aneurysm presenting with chest pain. The patient, exercised according to the Bruce protocol for 12 minutes, achieved 100% of the maximal, age-predicted heart rate. No scintigraphic evidence of stress-induced ischemia or prior myocardial infarction was found.

ventilation phases including the initial breath phase, equilib­ rium phase, and washout phase. Indications include the fol­ lowing: diagnosing acute pulmonary embolus, evaluating and follow-up of chronic pulmonary embolus, assessing quantita­ tive perfusion and ventilation function for presurgical evalua­ tion, and assessing quantitative perfusion and ventilation function for follow-up after surgery (Fig. 24-85). Right-to-left Shunt Study 99m Tc-MAA is the most commonly used radiopharmaceutical for the evaluation of right-to-left shunt. As in lung perfusion studies, all of the particles are trapped in the pulmonary arte­ rial capillary bed in the absence of right-to-left shunt. With right-to-left shunt at any level, particles will enter the systemic circulation in proportion to the flow and become trapped in the capillary and precapillary beds of systemic organs. The percentage of right-to-left shunt is calculated as (whole body count—lung count)/whole body count × 100. Pruckmayer and colleagues (1999) demonstrated that lung perfusion scin­ tigraphy detects more abnormal pulmonary flow patterns than contrast echocardiography and was able to uniquely quantify right-to-left shunt volume. The indications are to evaluate the

presence of right-to-left shunt and to quantify the degree of right-to-left shunt before and/or after a surgical procedure for congenital heart disease (Fig. 24-86).

Genitourinary System Basic Renogram The basic renogram consists of a series of images of the kidneys, taken as the radiotracer is delivered to the vascula­ ture, removed from the blood into the renal cortex, transits the kidney, and is excreted to the collecting system and the bladder. Renogram curves are also generated, quantifying the radiotracer movement in each kidney. Two radiopharmaceuticals are used: 99mTc-mercapto­ acetyltriglycine (MAG3), which is extracted by tubular secre­ tion, and 99mTc-DTPA, which is extracted by glomerular filtration. The most commonly used radiopharmaceutical is 99m Tc-MAG3, because it has a higher extraction fraction than DTPA and fewer false positive or indeterminate study results, and therefore is a better diagnostic agent, especially in patients with impaired renal function and in neonates.

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Figure 24-85  Ventilation and perfusion scan: Low-probability V/Q scan. First row: 99mTc-diethylenetriaminepentaacetic acid (DTPA) ventilation images demonstrate mildly heterogeneous distribution of the tracer distribution and central airway deposition without significant ventilation defects. Second row: 99mTc-macroaggregated albumin (MAA) perfusion images demonstrate mildly heterogeneous distribution of the tracer distribution, which is mismatched by the ventilation images.

Indications include the following: evaluating basic renal function in native kidneys; determining the relative quantita­ tive function of each native kidney; evaluating arterial flow and function in transplanted kidneys; helping to diagnose rejection and acute tubular necrosis in transplanted kidneys; and detecting urinary leak, infarct, or outflow obstruction in transplanted kidneys.

Figure 24-86  Lung perfusion and right-to-left shunt study: A 6-month-old with tetralogy of Fallot, status after multiple pulmonary artery stent and pulmonary artery dilation. 99mTc-macroaggregated albumin (MAA) particles were injected intravenously and show asymmetrically decreased perfusion to the left lung and localization to kidneys and brain, indicating a right-to-left shunt.

Flow images

Diuretic Renogram Diuretic renography is the noninvasive equivalent of a Whita­ ker test. The Whitaker test (a pressure perfusion flow study) is an invasive and nonphysiologic study requiring percutane­ ous nephrostomy, and the diagnosis is based on an abnormal increase in pressure after perfusion of fluid directly into the dilated system. Diuretic renography is based on the endoge­ nous urine flow rate after dieresis administration, and the diagnosis of obstruction is based on abnormally slow washout of radiotracer from a dilated collecting system. Other anatomic imaging techniques such as an intravenous pyelogram, CT, or ultrasound can evaluate structure without any information on urodynamics. Diuretic renography is done to diagnose func­ tional urinary tract obstruction in the presence of clinical suspicion for urine outflow obstruction or incidental detection of dilated renal collecting system (Fig. 24-87).

Functional images

Figure 24-87  Diuresis renogram: A 10-year-old with bilateral vesicoureteral reflux and left hydronephrosis. Posterior flow images obtained after intravenous injection of 99m Tc-diethylenetriaminepentaacetic acid (DTPA) show decreased perfusion to the left kidney. The functional renogram shows a mildly dilated collecting system of the left kidney with prompt clearance after administration of diuretic, indicating no significant ureteropelvic junction obstruction.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

Figure 24-88  Renal cortical scintigraphy: 99mTcdimercaptosuccinic acid (DMSA) study with posterior and posterior oblique pinhole views of both kidneys. A normal DMSA study exhibits uniform uptake in the renal cortex with reduced uptake centrally in the medulla and collecting system. LPO, left posterior oblique; LT post, left posterior; RPO, right posterior oblique; RT post, right posterior.

RT Post Kidney

RPO Kidneys

LT Post Kidney

LPO Kidneys

Angiotensin-converting Enzyme Inhibitor Renogram Renovascular hypertension is caused by renin secretion from the juxtaglomerular apparatus of the underperfused stenotic kidney, caused by afferent arteriole stenosis. Through the renin–angiotensin cascade, the final product, angiotensin II, causes vasoconstriction of the postglomerular (efferent) arte­ riole, and this can maintain the transglomerular pressure gradient and GFR in the presence of decreased perfusion pressure. However, angiotensin-converting enzyme (ACE) inhibitors reduce this compensatory mechanism by inhibiting vasoconstriction of the postglomerular (efferent) arteriole and therefore decreasing the transglomerular pressure gradient and GFR. It is important to distinguish physiologically significant renal artery stenosis from anatomic renal artery stenosis. Because not all renal artery stenoses are the cause of renovas­ cular hypertension, revascularization of a stenotic renal artery may not result in any improvement in blood pressure in as many as 30% to 40% of patients undergoing the procedure. An ACE inhibitor renogram has high predictive value in pre­ dicting the benefit from revascularization to relieve hypertension. Renal Cortical Scintigraphy A renal cortical scan is the most reliable and practical imaging technique for initial evaluation and monitoring of children with febrile urinary tract infection. It is more sensitive than ultrasound or intravenous urography in detecting pyelone­ phritis, with a sensitivity of 96% and specificity of 98% for detecting pyelonephritis. The radiopharmaceuticals used (99mTc-dimercaptosuccinic acid [DMSA] and 99mTcglucoheptonate) preferentially bind to renal tubules, providing excellent anatomic information about the renal cortex. The primary indications are as follows: for early diagnosis and

localization of acute pyelonephritis, to detect renal damage and to assess recovery or residual renal damage, and to measure relative function (percentage of the renal function contributed by each kidney in reference to total renal function) (Fig. 24-88). VCUG Conventional voiding cystourethrography (VCUG) with fluo­ roscopy is usually the first test done in males to evaluate the possibility of a posterior urethral valve and to grade the degree of reflux. If follow-up studies are needed, radionuclide cystography is preferable. A VCUG has the advantage of pro­ viding anatomic detail on the pelvicaliceal system, the ureters, and insertion of the ureters into the bladder. However, it has some limitations including relatively high gonadal radiation exposure and low temporal resolution, which can decrease sensitivity for detecting intermittent vesicoureteral reflux (VUR). On the other hand, radionuclide cystography has the advantages of low gonadal radiation exposure, high temporal resolution, high sensitivity, and lower cost although the ana­ tomic resolution delineating the bladder and urethra is limited. Both studies can be complementary in some cases. A VCUG can be used to detect, quantitate, and monitor VUR; assess antireflux surgery; or diagnose familial VUR (asymptomatic sibling of children with reflux). Two methods of radionuclide cystography can be employed. With direct radionuclide cystography, the bladder is catheter­ ized and the study is performed by infusing saline mixed with radiopharmaceuticals directly into the bladder via a catheter. Imaging is performed continuously during filling of the bladder and voiding. The entire study can take about 30 to 60 minutes. Indirect radionuclide cystography, however, does not require bladder catheterization and images can be obtained from a basic renogram study.



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Figure 24-89  Radionuclide cystography: An 8-year-old female with a history of reflux. Radionuclide cystography demonstrates moderate to severe vesicoureteral reflux on the right with pelvicaliceal dilation and mild to moderate vesicoureteral reflux on the left.

A patient receives an intravenous injection of radiopharma­ ceuticals (the same as are used in a renogram) and images of renal function, excretion of radiotracer into the bladder (bladder filling), voiding, and postvoiding are acquired. Although indirect radionuclide cystography allows bladder catheterization to be avoided, it is not as sensitive as direct radionuclide cystography for detecting reflux. The entire study can take about 30 to 60 minutes (Fig. 24-89).

Spleen and Hepatobiliary System Hepatobiliary Scan Using a bilirubin analog as radiopharmaceutical (99mTciminodiacetic acid [IDA]), the hepatobiliary scan allows visu­ alization of the bilirubin pathway in the hepatobiliary system from uptake into the hepatocytes to excretion via the biliary system, gallbladder, common bile duct, and small bowel. Indi­ cations for the study include the following: diagnosing sus­ pected acute cystic duct obstruction/cholecystitis, investigating possible biliary obstruction, diagnosing biliary dyskinesia and gallbladder ejection fraction, detecting bile leak, and differen­ tiating biliary atresia from neonatal hepatitis. 99m Tc-IDA is injected intravenously and serial images of the abdomen are acquired for 1 hour. If the duodenum and gall­ bladder are visualized by 1 hour, the study is complete. If the gallbladder is not visualized by 1 hour, 3- to 4-hour delay images or morphine sulfate (0.04 mg/kg) with additional image acquisition would be required to differentiate acute versus chronic cholecystitis. Morphine causes contraction of the sphincter of Oddi and redirects bile flow into the gallblad­ der with a patent cystic duct. When evaluation of the gallblad­ der ejection fraction is required and the gallbladder is visualized by 1 hour, cholecystokinin (CCK) is infused and additional images can be acquired during CCK infusion.

For differentiation of biliary atresia from neonatal hepatitis, initial 90-minute images, followed by 4-hour (and up to 24-hour) delay images are acquired (Figs. 24-90 and 24-91). Liver/Spleen Scan Because of advances in CT and MRI techniques, the liver/ spleen scan is not frequently used. However, these radionu­ clide scans may be helpful to confirm the presence of an accessory spleen, to evaluate hepatosplenomegaly and hepatic function, and to characterize a suspected hepatic mass, that is, determine whether or not it is focal nodular hyperplasia. The radiopharmaceutical (99mTc-sulfur colloid) is injected intravenously and is phagocytized by the reticuloendothelial system and normally distributed in Kupffer cells of the liver (85%), macrophages of the spleen (10%), and bone marrow (5%). If there is any nonfunctioning lesion within the liver or spleen, it appears as a hypofunctioning, or “cold” defect. Hemangioma Scan A hemangioma, or tagged RBC, scan is highly accurate with high specificity (90% to 100%) and sensitivity (65% to 100%) depending on the size and location of the lesion and equip­ ment used in scanning. This scan is particularly useful for characterizing a suspected hepatic mass on whether it may be a hemangioma.

Gastrointestinal System GI Bleeding Scan The advantage of a GI bleeding scan over angiography is its ability to localize the site of GI bleeding before angiographic intervention and to detect intermittent bleeding. Either 99mTclabeled RBC scintigraphy or 99mTc-sulfur colloid scintigraphy can be used; each is approximately 10-fold more sensitive than

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Figure 24-90  Hepatobiliary (HIDA) scan of a 17-year-old female with abdominal pain. This hepatobiliary study demonstrates visualization of the normal biliary duct, gallbladder, and bowel excretion.

B Delay image at 4 hours

C Delay image at 24 hours

A Figure 24-91  Hepatobiliary (HIDA) scan in biliary atresia: A 1-month-old with hyperbilirubinemia. 99mTc hepatobiliary scan shows no evidence of biliary excretion except for renal for the first 1 hour (A) and even at 24 hours (C).



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Figure 24-92  Gastrointestinal (GI) bleeding scan: Small intestinal bleeding. A focus (arrow) of activity initially appears in the proximal small intestine and subsequently moves both antegrade and retrograde from the site of bleeding.

angiography. The bleeding rate threshold for detection by 99m Tc-labeled RBC scintigraphy is as low as 0.1 to 0.4 mL/ minute, and 0.05 to 0.1 mL/minute for 99mTc-sulfur colloid scintigraphy, compared with 1 mL/minute for angiography. Colonoscopy has a low diagnostic yield for active bleeding and the small bowel is not successfully visualized by endos­ copy. The main advantage of 99mTc-labeled RBC scintigraphy is its longer duration of imaging time to localize bleeding, which increases the rate of detection of intermittent bleeding. 99m Tc-sulfur colloid scintigraphy is more sensitive and more widely used, although it has a smaller time window for imaging (20 minutes) due to rapid clearance by the reticulo­ endothelial system. Recent barium studies may obscure the site of bleeding (Fig. 24-92). Meckel Diverticulum Scan A Meckel diverticulum is an outgrowth of the ileum resulting from incomplete closure of the omphalomesenteric duct. In the Meckel diverticulum scan, 99mTc-pertechnetate localizes to the gastric mucosa and to ectopic gastric mucosa in the intes­ tinal tract. The sensitivity and specificity of this study for the detection of ectopic gastric mucosa causing bleeding are approximately 85% and 95%, respectively (see Chapter 17, Fig. 17-61). GI Motility Studies GI motility scintigraphy provides more physiologic and func­ tional information about GI motility, compared with a barium study, and objective assessment with quantification. The information is acquired as a dynamic image after oral

administration of liquid labeled with 99mTc-DTPA or 111In-DTPA, or a standardized solid meal labeled with 99mTc-sulfur colloid. Depending on the type of meal used, area of interest, and postimage processing, a GI motility study can be used to evaluate motility of the esophagus (esophageal transit), stomach (gastric emptying), and entire GI tract (panenteric transit study) or to evaluate gastroesophageal reflux or aspiration. Esophageal transit: Esophageal manometry can also be used to assess esophageal peristalsis and pressure change at the upper or lower esophageal sphincter, with contrast radio­ graphy for anatomic evaluation and endoscopy for direct visu­ alization and for biopsy. The advantage of esophageal scintigraphy is its noninvasive nature, quantification of data, and low radiation exposure. Gastroesophageal reflux study: Twenty-four-hour pH moni­ toring is considered the gold standard for evaluation of gas­ troesophageal reflux. However, its disadvantages include false positive or negative results from contamination of the pH probe by gastric juice or neutral food content, and its invasive­ ness. It has been shown that a 1-hour gastroesophageal reflux study correlates well with 24-hour pH monitoring. Aspiration study: Two scintigraphic studies (salivagram and milk scan) can be used for pulmonary aspiration. The salivagram detects aspiration during swallowing (ante­ grade events) and the milk scan detects events associated with gastroesophageal reflux (retrograde events). The salivagram has been shown to be more sensitive than either a milk scan or video fluoroscopy in the detection of pulmonary aspiration.

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A Solid gastric emptying

B Liquid gastric emptying

Figure 24-93  Gastric emptying scan: Normal solid (A) and liquid (B) gastric emptying. Sequential images are shown with computer regions of interest around the stomach and small bowel. The regions of interest around the stomach have been used to generate time–activity curves and thus calculate the half-time for the radiotracer to leave the stomach.

An aspiration study is indicated to assess esophageal moti­ lity and reflux (esophageal transit) or gastric motility (gastric emptying), and to assess gastroesophageal reflux (pediatric milk study) or aspiration (pediatric milk study or salivagram). Images are acquired for 1 to 4 hours after oral administra­ tion of radiolabeled solid and/or a liquid meal (for gastric emptying, esophageal transit study, and pediatric milk study). For a salivagram, images are acquired for 1 hour after admin­ istration of small drops of 99mTc-sulfur colloid liquid (Figs. 24-93 and 24-94).

Infection 111

In- or 99mTc-HMPAO–labeled Leukocyte Scan

An 111In- or 99mTc-hexamethylpropyleneamine oxime (HMPAO)– labeled leukocyte scan localizes sites of soft tissue infection, inflammation, abscess, and osteomyelitis. These scans are used most often when there is suspicion for infection without any localizing sign or in the presence of negative or equivocal CT. Although the three-phase bone scan has relatively good sensitivity (75% to 100%), the specificity (10% to 59%) is Figure 24-94  Aspiration study: Radionuclide salivagrams positive for aspiration. There is intense continuous activity outlining the oropharynx, trachea, and right bronchus (arrow) on posterior views. Note that the last image is a cobalt flood source posterior to the patient, providing an outline of the form of the patient’s body.

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Three-phase Bone Scan for Infection Although plain radiography is routinely performed as the initial imaging procedure for the diagnosis of osteomyelitis, it has relatively low sensitivity, ranging from 43% to 75%, and specificity, from 75% to 83%, and may not detect abnormality in the early phase. Osteomyelitis may take several days (approximately 10 days after the onset of infection) to become apparent. Therefore, plain radiography is helpful when positive; however, a negative study does not exclude osteomyelitis. Bone scintigraphy is performed with 99mTc-labeled diphos­ phonates, usually methylene diphosphonate (MDP). Tracer uptake is dependent on blood flow and the osteoblastic activ­ ity for new bone formation. When osteomyelitis is suspected, a three-phase bone scan needs to be performed. Bone scintig­ raphy is widely available, relatively inexpensive, easily per­ formed, and rapidly completed. The test is fairly sensitive and can be positive within 2 days of the onset of symptoms. The three-phase bone scan includes the flow or perfusion phase, which is acquired immediately after radiopharmaceuti­ cal injection; followed immediately by imaging of the region of interest, that is, the blood pool or soft-tissue phase; and the third or bone phase, consisting of imaging performed 2 to 4 hours later. Anterior

Posterior

Figure 24-95  Leukocyte scan: Normal indium-labeled white blood cell scan. Anterior (left) and posterior (right) images demonstrate liver, spleen, and bone marrow activity.

low for diagnosing osteomyelitis. The radionuclide leukocyte scan has higher sensitivity and specificity than the three-phase bone scan in diagnosing osteomyelitis despite its poor resolu­ tion and lack of soft tissue and bony landmarks. Indications include the following: diagnosing infection/ abscess in soft tissues of the body, assessing the extent and severity of inflammatory bowel disease, diagnosing postopera­ tive abscess in patients with fever and high clinical suspicion but inconclusive or negative CT scan, diagnosing infection in patients with known tumor and fever, diagnosing vascular graft infection, diagnosing osteomyelitis in diabetics with non­ healing ulcers, and diagnosing osteomyelitis in patients with inconclusive three-phase bone scan or MRI (Fig. 24-95). Gallium Scan Gallium-67 (67Ga)-citrate localizes to inflammatory tissues by forming complexes with circulating transferrin, which carries the radiolabel to sites of inflammation or tumor as well as other, normal tissues such as liver, spleen, bone marrow, gas­ trointestinal tract, and kidney; incorporates into leukocytes via lactoferrin; and is taken up by microorganisms through binding to siderophores, which are produced by bacteria. Although combined bone/gallium scintigraphy has been replaced by labeled leukocyte imaging in the diagnosis of osteomyelitis, it remains the best way to evaluate vertebral osteomyelitis. Therefore, indications for a gallium scan are to diagnose osteomyelitis, especially vertebral osteomyelitis; to diagnose and evaluate the severity and extent of infection or inflammation in the lungs; and to determine the cause of fever of unknown origin, such as infection or occult tumor. Gallium injection should be postponed at least 24 hours after blood transfusion or gadolinium-enhanced MRI (both can interfere with normal gallium biodistribution). After intra­ venous injection of 67Ga-citrate, images can be obtained at 4, 24, or 48 hours with further delay images if needed (Fig. 24-96).

CNS Brain Perfusion SPECT Imaging Two major types of radiopharmaceuticals are currently used for brain perfusion SPECT imaging: 99mTc-exametazime or HMPAO (Ceretec), and 99mTc-ethyl cysteinate dimer (ECD) (Neurolite). Both agents are injected intravenously and dis­ tribute in the brain proportional to blood flow. HMPAO is a lipophilic compound and thus may cross the blood–brain

Figure 24-96  Gallium scan: A 16-year-old with back pain with increased inflammatory marker. The scan demonstrates normal distribution in liver, bone, spleen, and lacrimal gland.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A Ictal SPECT

Interictal SPECT

Figure 24-97  Ictal and interictal brain single-photon emission computed tomography (SPECT): An 11-year-old with intractable partial complex seizure and epileptogenic focus in the left temporal lobe. Ictal SPECT (A) demonstrates a focus of increased perfusion (arrow) in the left temporal lobe spreading to the left parietal lobe. Interictal SPECT (B) demonstrates a focus of decreased perfusion (arrow) in the left temporal lobe.

barrier into the brain, where it reacts with intracellular gluta­ thione and is converted to a hydrophilic compound that pre­ vents back diffusion out of the brain. Likewise, ECD has a lipophilic moiety that is converted to a hydrophilic compound by an unknown enzymatic reaction. Indications for brain per­ fusion SPECT imaging are to identify seizure focus and to identify vascular spasm. The patient must lie still for the duration of the scan. If necessary, sedation is considered. For ictal brain SPECT, the radiopharmaceutical is injected as soon as possible after the onset of seizure activity detected during electroencephalogram (EEG) video monitoring (Fig. 24-97). Brain Death Study Administration of 99mTc-exametazime or HMPAO (Ceretec), and 99mTc-ethyl cysteinate dimer (ECD) (Neurolite) is one approach used to determine cerebral perfusion on the basis of cerebral uptake of radiopharmaceuticals. In the more tradi­ tional approach, 99mTc-pertechnetate or 99mTc-DTPA is used to determine the presence of cerebral blood flow during the rapid angiographic flow phase right after bolus injection. Normally these radiopharmaceuticals do not cross the blood–brain barrier unless it is disrupted; they visualize only vascular structures. Diamox Brain Stress SPECT Acetazolamide (Diamox) is used to evaluate physiologically (hemodynamically) significant anatomic vascular lesions that can be masked and maintained by a compensatory mecha­ nism. Acetazolamide, a carbonic anhydrase inhibitor, causes cerebral vasodilatation and increased cerebral blood flow in normal vessels, in contrast to high-grade stenotic vessels, which cannot dilate as much as normal vessels do. Therefore the regions of low flow reserve with relative hypoperfusion supplied by stenotic vessels become unmasked and visualized in contrast to areas supplied by normal vessels. The indication is to evaluate cerebral flow reserve.

18

F-FDG Brain PET

18

F-FDG is a glucose analog and is transported into viable cells, where it is phosphorylated and irreversibly trapped. A highgrade tumor uses more 18F-FDG than do normal cells and appears as a “hot spot”; necrotic tissue has no uptake of 18FFDG, resulting in a “cold spot.” 18F-FDG can be used to identify a seizure focus, to differentiate recurrent tumor from radiation necrosis, and to assess the response of a high-grade brain tumor to treatment. For patients with seizures, EEG monitor­ ing is needed. CSF Flow Study (Radionuclide Cisternogram) The radionuclide cisternogram visualizes CSF flow. This can differentiate communicating hydrocephalus (and normal pres­ sure hydrocephalus) from nonobstructive causes of ventricu­ lomegaly, such as atrophy. A lumbar puncture is performed by the clinician and 111In-DTPA is injected intrathecally. Fluo­ roscopic guidance can also be used. Images are obtained at 1 to 4 hours, 24 hours, and up to 72 hours depending on depart­ ment protocol. CSF Leak Study CSF leakage can occur anywhere from the frontal sinus to the temporal bone (frequently at the cribriform plate) after trauma and can manifest as rhinorrhea or otorrhea. A nonresolving leak can cause meningitis, and often surgery is required to seal the leak. A presurgical radionuclide scan for CSF leakage is done to localize the leak and has greater sensitivity, espe­ cially for intermittent leakage, compared with a CT myelo­ gram, although anatomic detail cannot be provided. Before the examination, the otolaryngologist places labeled cotton pledgets into the nasal cavity or ear. 111In-DTPA is injected intrathecally after lumbar puncture. The patient lies supine or in the Trendelenburg position and performs the Valsalva maneuver until imaging at 1 to 4 hours to increase

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1031

CSF pressure and maximize the leak. Additional delay images up to 72 hours can also be obtained. When a leak is detected, or at 4 to 24 hours, the pledgets are withdrawn, weighed, and counted for radioactivity with further calculation of the pledget-to-plasma radioactivity ratio. CSF Shunt Patency Study A CSF shunt patency study is used to evaluate the patency of ventriculoperitoneal and ventriculoatrial CSF shunts and the Ommaya ventricular chemotherapy shunt. This test can provide images of CSF flow and evaluation of definitive shunt patency. The injection procedure should be arranged with a neurosur­ geon or someone trained in this technique (Fig. 24-98).

Endocrine System 123

I Thyroid Uptake and Scan/99mTc-Pertechnetate Thyroid Scan Iodine-123 (123I) is an isotope that is absorbed readily by the intestine into the extrathyroidal iodine pool, actively trans­ ported into the follicular cells and oxidized, bound to tyrosine (organification), and subsequently incorporated into thyroid hormone, just like nonradioactive iodine. The 123I scan dem­ onstrates functioning thyroid tissue with both intact trapping and organification. 99m Tc-pertechnetate is an anionic analog of iodine and is transported into the follicular cells without further

Figure 24-99  Thyroid scan: Diffuse goiter in a patient with Graves disease. The pinhole collimator image (123I) demonstrates an enlarged thyroid gland with increased activity.

organification. The resulting images reflect exclusively the trapping capacity of the thyroid gland. The scans may help to distinguish between Graves disease and hyperthyroidism caused by thyroiditis or factitious hyper­ thyroidism, to distinguish between Graves disease and multi­ nodular goiter, to evaluate the functional status of a thyroid nodule, and to evaluate congenital thyroid anomaly (agenesis, sublingual thyroid) in a newborn (Fig. 24-99). 131

A

B

C Figure 24-98  Ventriculoperitoneal shunt study: A 19-year-old male with a history of ventriculoperitoneal shunt placement presents with a headache. A, Lateral view of the head after injection into the shunt reservoir (arrow). B, Lateral view over the chest shows activity progressing inferiorly (arrow). C, Lateral view over the abdomen demonstrates activity at the end of the catheter (arrow), diffusing throughout the abdomen, and collecting in the right and left paracolic gutters.

I Therapy for Hyperthyroidism Radioactive 131I therapy for hyperthyroidism has an approxi­ mately 80% success rate with single-dose treatment and pre­ sents minimal risk, although there is a likelihood of subsequent hypothyroidism. The treatment dose for Graves disease usually is calculated on the basis of the size of the gland, the 24-hour uptake, and the desired dose of radiation to be delivered to the gland. The indications for 131I therapy are for the treatment of Graves disease and multinodular goiter. Additional notes concerning 131I therapy are as follows: • A serum pregnancy test should be performed before 131I injection for any female of reproductive age. • Compounds that can affect iodine uptake need to be withheld (Box 24-1). • After swallowing a 131I capsule, the patient should follow, for 3 to 5 days posttherapy, the radiation safety instruc­ tions provided by the radiation safety office of the institu­ tion where treatment was received. Post-thyroidectomy 123I or 131I Whole Body Scan for Thyroid Cancer Please refer to 123I Thyroid Uptake and Scan/99mTc-Pertechne­ tate Thyroid Scan, earlier. A post-thyroidectomy 123I scan, or 131 I whole body scan, for thyroid cancer can be done to confirm the presence of postsurgical thyroid remnant, and to detect metastatic disease. If the patient is a female of reproductive age, a pregnancy test should be performed; supplemental thyroid hormone is then discontinued until thyroid-stimulating hormone (TSH) exceeds 30 µU/mL. The patient should be on a low-iodine diet for 1 to 2 weeks before therapy and any exogenous iodine in the diet or medication that can decrease the uptake of

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

BOX 24-1 

Compounds That Can Decrease Thyroid   Iodine Uptake* For 1 week: Adrenocorticosteroid, bromides, phenylbutazone (Butazolidin), mercurials, methimazole (Tapazole), propylthiouracil, perchlorate, nitrate, salicylate (large dose), sulfonamides, and thiocyanate For 2 to 3 weeks: Tri-iodothyronine (Cytomel) For 4 weeks: Thyroid extract (Synthroid, Proloid), iodine solution (Lugol or SSKI [saturated solution of potassium iodide]), iodinecontaining antiseptics, and some cough medicines and vitamin preparations For 1 to 2 months: Intravenous contrast agents For 3 to 6 months: Oil-based iodinated contrast agents and amiodarone *Based on ACR practice guideline 2007.

therapeutic 24-1).

131

I should be withheld (Fig. 24-100; and see Box

131

I Ablative Therapy for Thyroid Cancer Some thyroid tissue remains after total thyroidectomy in 90% to 100% of patients, because of the risks of injury to the superior or recurrent laryngeal nerves and parathyroid glands. Also, 20% to 80% of papillary thyroid carcinoma and, to a lesser extent, follicular carcinoma can be multifocal and there­ fore a thyroid remnant after total thyroidectomy may still contain thyroid cancer. Treatment of patients with papillary thyroid carcinoma greater than 1.5 cm in size by a combina­ tion of thyroidectomy, 131I ablation, and thyroid hormone

suppression results in a lower recurrence rate compared with surgery alone, surgery plus external radiation, or surgery plus thyroid hormone. Once the thyroid is completely ablated, the patient under­ goes periodic TSH-stimulated thyroglobulin testing, which is highly sensitive and specific for thyroid cancer follow-up; however, thyroid cancer metastases may be nonfunctional, that is, they may produce little or no thyroglobulin; because the anti-thyroglobulin antibody used to detect thyroglobulin does not recognize serum thyroglobulin in these patients, false negative results are produced. False negative results may also occur in patients with a high level of anti-thyroglobulin anti­ body. Therefore a diagnostic whole body iodine scan with 131I, which produces both gamma photons (for imaging) and beta particles (for therapy), is performed. Once 131I is trapped and organified by normal thyroid tissue or differentiated thyroid cancer, it decays inside the cells and emits beta particles, which disrupt the cellular DNA and further cell division, leading to cell death. Parathyroid Scan Parathyroid scans can help localize a hyperfunctioning para­ thyroid adenoma before surgery in patients with primary hyperparathyroidism and after parathyroid surgery in patients with persistent hyperparathyroidism. Two methods can be used. Subtraction Technique In the subtraction technique 99mTc-sestamibi/123I or 99mTcpertechnetate subtraction images are used. Both thyroid gland and hyperfunctioning parathyroid tissue take up 99mTcsestamibi, whereas only the thyroid gland is visualized by 123I or 99mTc-pertechnetate. By subtracting the 123I results from those for 99mTc-sestamibi, hyperfunctioning parathyroid tissue can be localized. Dual-phase Technique 99m Tc-sestamibi is used in the dual-phase technique, which is based on the fact that there is a faster washout rate in normal thyroid tissue compared with abnormal parathyroid and adenoma or hyperplasia. It is easier to perform and less expensive than the subtraction technique, although less sensitive. Various institutions may have different protocols through adopting either one of these or both techniques (Fig. 24-101).

Skeletal System

Figure 24-100  Whole body iodine scan: A 16-year-old girl with a history of papillary thyroid cancer, status post–total thyroidectomy and lymph node dissection. Whole body iodine images demonstrate focal activity in the thyroid bed, indicating residual thyroid tissue or cancer, and normal distribution of tracer activity in the salivary gland, stomach, bowel, and bladder.

Bone Scan Bone scintigraphy is performed with 99mTc-labeled diphospho­ nates, usually methylene diphosphonate (MDP). Tracer uptake is dependent on blood flow and the osteoblastic activity for new bone formation. Indications include the following: detecting and follow-up for bone metastasis; determining the presence of fracture, stress fracture, or shin splint; evaluating skeletal abnormality as the cause of bone pain; evaluating avascular necrosis, reflex sympathetic dystrophy, and maturity of heterotopic ossi­ fication for surgical excision; follow-up of Paget disease; and evaluating the viability of a bone graft. The three-phase bone scan consists of sequential flow images taken of one area of interest. Images of the first (or angiographic) phase are made immediately after intrave­ nous injection of radiopharmaceutical. After a 10-minute delay the second-phase imaging (blood pool or soft tissue uptake) is done, and in the third phase, 3 to 4 hours later, delayed images are produced. A standard bone scan acquires images

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Figure 24-101  Parathyroid scan: Parathyroid adenoma. A parathyroid adenoma (located at the inferior aspect of the left lobe of the thyroid; arrow) is revealed, by comparison of early and delayed images, as an area of increased activity relative to the thyroid.

Early image

of the area of interest or the whole body 3 to 4 hours after intravenous injection of radiopharmaceutical (Fig. 24-102).

Oncology

Delayed Image

somatostatin receptor (sensitivity of 55% to 70%) and other metabolic imaging techniques such as FDG PET. MIBG scin­ tigraphy also has been used to assess treatment response and can provide prognostic value (Fig. 24-103). 18

123

I-MIBG Scan Meta-iodobenzylguanidine (MIBG) is a catecholamine precur­ sor analog and represents a functional type 1 catecholamine. It is taken up into presynaptic nerve terminals of adrenergic origin by a type 1 catecholamine uptake mechanism, and concentrated within the secretory granules of catecholamineproducing cells. MIBG is concentrated in both the cytoplasm and norepinephrine storage granules of neuroblastoma cells, and particularly in the granules of pheochromocytoma cells. The sensitivity of 123I-MIBG scintigraphy for neuroblastoma ranges from 83% to 94%, with a specificity of nearly 100%, higher than that of 111In-DTPA-octreotide scintigraphy for

F-FDG PET F-FDG is a glucose analog, and FDG images represent glucose metabolism in suspected tumor cells, which have a high rate of glucose utilization compared with normal tissue. These scans are useful for initial staging, for assessment of treatment response, for disease monitoring after completion of therapy, to differentiate residual tumor from a scar or necrosis, and to assess prognosis. 18 F-FDG PET scans have shown consistently superior diag­ nostic accuracy over other, more conventional imaging moda­ lities and overall a 25% to 35% change in management plan may be contributed by FDG PET across all cancer types. PET/CT increases specificity even further by decreasing false 18

B

C

A Planar bone scan

Bone SPECT transaxial view

Bone SPECT sagittal view

Figure 24-102  Bone scan and single-photon emission computed tomography (SPECT)/CT: A 10-year-old boy with a bilateral L5-S1 pars defect. A, Planar bone scan demonstrates focal activity in the fifth lumbar vertebra of the spine. B and C, Bone SPECT/CT and fusion images in transaxial (B) and sagittal (C) projections demonstrate focal activity in the bilateral pars interarticularis defect, indicating spondylolysis in L5.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

B

A Planar I-123 MIBG scan

I-123 MIBG SPECT

123

Figure 24-103  I-meta-iodobenzylguanidine (MIBG) scan: An 11-month-old female with metastatic neuroblastoma. A, Planar 123I-MIBG scan demonstrates an intensely MIBG-avid mass in the left upper abdominal region and pelvic masses, with multiple skeletal lesions. B, 123I-MIBG single-photon emission computed tomography (SPECT) demonstrates an intensely MIBG-avid mass in the left upper abdomen.

positive findings and allowing more accurate anatomic local­ ization. The utility of 18F-FDG PET has been well established in lymphoma. Many previous studies have reported the supe­ riority of 18F-FDG PET in the assessment of tumor recurrence and distant metastasis of soft tissue sarcoma over other imaging modalities. Current experiences suggest a potential role for

18

F-FDG PET in monitoring treatment response, assessing the extent of Wilms tumor metastasis, and differentiating between nephrogenic rests and nephroblastomatosis, as well as in the staging and monitoring of treatment response and monitoring recurrence of primary bone tumor (osteosarcoma, Ewing sarcoma) and hepatoblastoma (Fig. 24-104 and Table 24-11).

Figure 24-104  Fluorodeoxyglucose positron emission tomography (18F-FDG PET): An 18-year-old male with a history of recently diagnosed Hodgkin lymphoma. 18F-FDG PET demonstrates multiple cervical, mediastinal, abdominal, and pelvic lymphadenopathies and splenic involvement.



Bibliography American College of Radiology: ACR appropriateness criteria (website). http://www.acr.org/ac. Accessed October 2011. American College of Radiology: ACR manual on contrast media v7 (website). http://www.acr.org/secondarymainmenucategories/quality_safety/ contrast_manual.aspx. Accessed October 2011. Amis ES Jr, Butler PF, Applegate KE, et al: American College of Radiology white paper on radiation dose in medicine, J Am Coll Radiol 4:272–284, 2007. Barkovich AJ: Pediatric neuroimaging, Philadelphia, 2005, Lippincott Williams & Wilkins. Blickman JG, Parker BR, Barnes PD: Pediatric radiology: The requisites, Phila­ delphia, 2009, Mosby Elsevier. Catanzano TM: How to think like a radiologist: Ordering imaging studies, Cambridge and New York, 2009, Cambridge University Press. Gillard JH, Waldman AD, Barker PB: Clinical MR neuroimaging: Diffusion, perfusion and spectroscopy, Cambridge and New York, 2005, Cambridge University Press. Haller JO, Slovis TL, Joshi A: Pediatric radiology: an introduction for medical students, residents, and pediatric health care providers, ed 3. Berlin, 2005, Springer.

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Kanal E, Barkovich AJ, Bell C, et al: ACR guidance document for safe MR practices: 2007, AJR Am J Roentgenol 188:1447–1474, 2007. National Cancer Institute: Radiation risks and pediatric computed tomography (CT): A guide for health care providers (website). http://www.cancer. gov/cancertopics/causes/radiation/radiation-risks-pediatric-CT. Accessed October 2011. Osborn AG: Diagnostic neuroradiology, St. Louis, 1994, Mosby. Panigrahy A, Nelson MD Jr, Bluml S: Magnetic resonance spectroscopy in pediatric neuroradiology: Clinical and research applications, Pediatr Radiol 40:3–30, 2010. Pruckmayer M, Zacherl S, Salzer-Muhar U, et al: Scintigraphic assessment of pulmonary and whole-body blood flow patterns after surgical intervention in congenital heart disease, J Nucl Med 40:1477–1483, 1999. Siegel MJ: Pediatric sonography, ed 4. Philadelphia, 2011, Lippincott Williams & Wilkins. Slovis TL: Caffey’s pediatric diagnostic imaging, ed 11. Philadelphia, 2008, Elsevier. Swischuk LE: Emergency pediatric imaging: current status and update. Semin Ultrasound CT MRI 28:158–168, 2007. Swartz JD: Imaging of the temporal bone, New York, 1986, Thieme.

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Date Exam

My Child’s Medical Imaging Record FOLD HERE

Where Exam Performed

www.imagegently.org e-Figure 24-1  “My Child’s Medical Imaging Record”: For tracking date, type of examination, and where study was performed. (From www.imagegently.org.)

e-Table 24-1

Role of the Generalist

• Formulate a diagnostic question based on patient history, physical findings, and appropriate laboratory data • Determine in consultation with a pediatric radiologist which imaging study or studies will most effectively answer the diagnostic question • Weigh potential benefits of imaging procedures against risks and expenses • Inform the pediatric radiologist of all clinical and historical information relevant to diagnosis and patient safety • Prepare patients and parents adequately for radiologic examinations, both physically and emotionally • Obtain results of imaging studies and address abnormal findings • Provide feedback to the radiologist regarding diagnosis and outcome From Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics, Philadelphia, 2005, Mosby Elsevier. e-Figure 24-2  An x-ray image. Shown is an anteroposterior chest radiograph of an infant, demonstrating the attenuation of the various body structures. The normal lungs are air-filled and therefore black. The heart (H) and liver (L) have absorbed some radiation and are slightly gray. The bones are dense, and are a lighter shade of gray to white. Note the sail sign of the normal thymus (T) and the rightward deviation of the distal trachea (arrow) by the normal left-sided aortic arch.

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

e-Figure 24-3  A, Congestive heart failure in a 5-day-old infant. B, Axial T2 fast spin echo MRI shows vein of Galen malformation (arrow).

e-Figure 24-4  Diagram shows a normal arterial spectrum obtained by Doppler ultrasound, the parameters that define it, and the general terms used to describe it. PSV, peak systolic velocity; EDV, end-diastolic velocity. The resistive index (RI) = (PSV – EDV)/PSV. The pulsatility index (PI) = (PSV – EDV)/MV, where MV is the mean flow velocity during the cardiac cycle. (From Chavhan GB, Parra DA, Mann A, et al: Normal Doppler spectral waveforms of major pediatric vessels: Specific patterns, Radiographics 28:691-706, 2008.)

e-Table 24-2

Estimated Lifetime Risk of Death from Various Sources

Cause of Death Cancer Motor vehicle accident Radon in home   Average U.S. exposure   High exposure (1%-3%) Arsenic in drinking water   2.5 µg/L (U.S. estimated average)   50 µg/L (acceptable limit before 2006) Radiation-induced fatal cancer   Routine abdominopelvic CT, single phase, ∼10-mSv effective dose Annual dose limit for a radiation worker   10 mSv (recommended yearly average)   50 mSv (limit in a single year) Pedestrian accident Drowning Bicycling Lightning strike

e-Figure 24-5  Small simple right pleural effusion (E). L, liver.

Estimated Number of Deaths per 1000 Individuals 228 11.9 3 21 1 13 0.5 0.5 2.5 1.6 0.9 0.2 0.013

From McCollough CH, Gimarães L, Fletcher JG: In defense of body CT, AJR Am J Roentgenol 193:28-39, 2009.

24  |  Fundamentals of Pediatric Radiology



A

e5

C

B e-Figure 24-6  A-C, Ureteral duplication with ureterocele. A, Longitudinal sonogram of the right kidney shows dilated upper pole (UP) and lower pole (LP) moieties. B, Longitudinal sonogram through the pelvis demonstrates the ureterocele (UC) entering the base of the urinary bladder (BL) and the dilated distal right ureter (U) from the upper moiety. C, Voiding cystourethrogram shows the ureterocele (arrows) at the bladder base.

Al

Normal

Al

Moderate

AT

A

Vel.

Vel.

Vel.

Severe

AT Time

B

Time

C

Time

e-Figure 24-7  Schematic diagrams demonstrating how to measure the acceleration index (AI) and acceleration time (AT). The AI is the slope of the line connecting the point of onset of systole and the early systolic peak complex. A, Normal renal artery waveform. B, Abnormal waveform with a delay in systolic acceleration indicating a proximal stenosis in the main renal artery. C, Tardus parvus waveform indicating a high-grade proximal stenosis. Vel., velocity. (From Moukaddam H, Pollak J, Scoutt LM: Imaging renal artery stenosis, Ultrasound Clin 2:455-475, 2007.)

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Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

e-Table 24-3

Common Indications for Plain Radiography

Organ System

Indications

Head and neck

Craniosynostosis Sinusitis Adenoid hypertrophy Acute or chronic lung disease Air trapping or atelectasis Congenital or acquired heart disease Hydro- or pneumothorax Pneumomediastinum Pulmonary, hilar, mediastinal, or chest wall mass Endotracheal tube or vascular catheter placement Abdominal pain or mass Bowel obstruction, ileus, or constipation Necrotizing enterocolitis Pneumoperitoneum Renal or biliary stone disease Enteral tube or vascular catheter placement Trauma Mass Infection Inflammatory, vascular, or metabolic disease Congenital and developmental anomalies (e.g., skeletal dysplasia, scoliosis, hip dysplasia, tarsal coalition, clubfoot) Bone age determination Ventriculoperitoneal shunt assessment Foreign body localization

Chest

Abdomen

Musculoskeletal system

Miscellaneous

From Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics. Philadelphia, 2005, Elsevier.

e-Table 24-4

Fluoroscopic Contrast Agents

Agent

Uses

Advantages

Risks

Contraindications

Barium

Gastrointestinal imaging only

Causes scarring when extravasated into peritoneal cavity Interferes with other imaging studies (CT, ultrasonography, nuclear scintigraphy)

Potential gastrointestinal tract leak Recent gastrointestinal tract surgery

Water-soluble contrast agents

Gastrointestinal, urologic, neurologic imaging

Chemically inert Not absorbed Better tolerated than hyperosmolar water-soluble contrast agents if aspirated Better tasting and less expensive than water-soluble contrast agents Safer than barium if extravasated into peritoneal cavity or mediastinum

Risks (reduced with iso-osmolar nonionic agents) Severe chemical pneumonia if aspirated Severe dehydration (secondary to fluid shift into gastrointestinal tract, especially in neonates) Altered hemodynamics Allergic reaction (especially after intravenous injection) Nephrotoxicity (after intravenous injection)

Relative contraindications Known contrast allergy Renal insufficiency or failure Dehydration or shock

CT, computed tomography. From Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics. Philadelphia, 2005, Elsevier.

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e-Table 24-5 Indications for Ultrasonography Organ System

Indications

Head: Neonates and infants

Intracranial hemorrhage Periventricular leukomalacia Hydrocephalus Mass Congenital anomalies Dysraphism Tethered cord Adenopathy, mass, or abscess Fibromatosis cell Congenital or acquired heart disease

Spine Neck Chest

A Abdomen

Retroperitoneum

B

Scrotum

Pelvis

C e-Figure 24-8  Normal pulse Doppler waveforms of the renal arteries. A, Pulse Doppler tracing of an intraparenchymal segmental renal artery demonstrates a sharp systolic upstroke and continuous forward diastolic flow. In this case the point of peak systolic velocity (PSV) is the same as the early systolic peak (ESP) complex. B, In another patient, pulse Doppler tracing of a normal renal artery demonstrates an early systolic notch or ESP complex (arrow) before PSV (+) is reached. C, Measurement of normal acceleration time (20 milliseconds). (From Moukaddam H, Pollak J, Scoutt LM: Imaging renal artery stenosis, Ultrasound Clin 2:455-475, 2007.)

Extremities

Pericardial or pleural effusion Diaphragm paralysis Chest wall or mediastinal mass Ascites Mass Infection Pyloric stenosis Appendicitis Hepatosplenomegaly Portal hypertension Liver transplant assessment Biliary anomalies (choledochal cyst or choledochocele, calculi) Duplication or mesenteric cyst Pancreatitis and pseudocyst Typhlitis Mesenteric adenitis Urinary tract infection Hydronephrosis Renal mass Congenital renal anomalies Cystic renal disease Urolithiasis Renal vein thrombosis Hypertension Renal transplant assessment Adrenal mass or hemorrhage Cryptorchidism Torsion of testicle or appendix testis Epididymo-orchitis Hernia Hydrocele Varicocele Mass Trauma Ambiguous genitalia Ovarian torsion Mass or cyst Intrauterine or ectopic pregnancy Infection/abscess Precocious puberty Amenorrhea Renal ectopia Developmental dysplasia of hip Joint effusion Mass Abscess Foreign body Deep vein thrombosis

From Osborn LM, DeWitt TG, First LR, et al, editors: Pediatrics. Philadelphia, 2005, Elsevier.

e-Table 24-6 Precautions When Using Gadolinium in Children 1. Reconsider the need for contrast-enhanced magnetic resonance imaging (CE-MRI): A dedicated ultrasound or unenhanced MR scan using new techniques may suffice to solve the problem 2. Identify patients at increased risk for NSF: These include patients with renal disease or after liver transplantation. One may rely on history and clinical data, or order a blood test to check the creatinine level and estimate the glomerular filtration rate (GFR) 3. GFR is mandatory in all patients with potential renal disease: If below 30 mL/minute the indication for CE-MRI should be reconsidered and discussed with the attending nephrologist. If the GFR is between 30 and 60 mL/minute, gadolinium should be administered with caution. Patients and their parents must be informed about the potential risk and informed consent should be obtained 4. Use only macrocyclic gadolinium compounds: Particularly in neonates, infants, and patients whose GFR is between 30 and 60 mL/minute 5. Avoid repetitive applications and promote the use of single-dose techniques: High cumulative systemic gadolinium dose appears to be a risk factor. The cumulative gadolinium dose received by a patient should be recorded 6. Use of supportive measures for preventing NSF: Improve renal function and hydration, and balance acidosis before gadolinium administration. However, all these measures, even dialysis, do not guarantee full protection 7. Never deny a child an indicated MRI study NSF, nephrogenic systemic fibrosis. Modified from Riccabona M, Avni FE, Blickman JG, et al: Imaging recommendations in paediatric uroradiology: minutes of the ESPR uroradiology task force session on childhood obstructive uropathy, high-grade fetal hydronephrosis, childhood haematuria, and urolithiasis in childhood. ESPR Annual Congress, Edinburgh, UK, June 2008. Pediatr Radiol 39(8):891-898, 2009. Congenital lobar emphysema

Bronchogenic cyst

Congenital cystic adenomatoid malformation

Bronchopulmonary sequestration

Hypogenetic lung syndrome

Abnormal lung Normal vasculature

Pulmonary arteriovenous malformation

Normal lung Abnormal vasculature

e-Figure 24-9  Continuum of pulmonary developmental anomalies. The six pulmonary developmental anomalies can be considered to span a continuum, ranging from an abnormal lung containing normal vessels to a normal lung containing abnormal vessels. Although many cases of pulmonary developmental anomalies have the classic features of a single anomaly, other cases have features common to two or more anomalies. (From Panicek DM, Heitzman ER, Randall PA, et al: The continuum of pulmonary developmental anomalies, Radiographics 7:747-772, 1987.)

e-Table 24-7

Examples of Radiation Doses with Common Computed Tomography Examinations of the Central Nervous System DOSE REPORT

Exam Description CT SPINE CERVICAL WITH Total Exam DLP: 219.41 CT MAXILLOFACIAL OR SI Total Exam DLP: 444.93 CT SOFT TISSUE NECK Total Exam DLP: 366.20 CT HEAD OR BRAIN WITHOUT Total Exam DLP: 581.49 CT HEAD OR BRAIN WITHOUT

Series

Type

Scan Range (mm)

CTDIvol* (mGy‡)

DLP† (mGy-cm)

1 2

Scout Helical

— 139.750-1157.250

— 15.82

— 219.41

— Body 32

1 2

Scout Helical

— 150.750-S20.500

— 48.13

— 444.93

— Head 16

1 2

Scout Helical

— S0.500-l189.500

— 17.34

— 366.20

— Body 32

1

Scout

—

—

—

2

Helical

144.750-S97.608 123.660-17.843

34.46 36.34

508.80 72.69

1

Scout

—

—

—

2

Helical

S5.250-S130.250

15.26

198.40

1 2

Scout Helical

—

—

—

1 2

Scout Helical

— 153.500-S85.875

— 31.92

— 512.63

Phantom (cm)

— Head 16 Head 16 — Head 16

Total Exam DLP: 198.40

CT ORBITS SELLA POSTER

— — Head 16

Total Exam DLP: 512.63 *The CT dose index volume (CTDIvol) is a weighted average measurement in a reference phantom and the relative dose for an examination. It is the current standard for CT dosimetry and performance. It describes average dose over the total volume scanned. † The dose length product (DLP) is the product of CTDIvol and the scan length for a group of scans. ‡ A milligray (mGy) is 10–3 gray; the gray (symbol, Gy) is the SI unit of absorbed radiation dose of ionizing radiation (e.g., x-rays), and is defined as the absorption of 1 joule of ionizing radiation by 1 kg of matter (usually human tissue). CT, computed tomography; SI, sinus.

24  |  Fundamentals of Pediatric Radiology



e-Table 24-8

Pediatric Magnetic Resonance Imaging Sedation Policy Guideline

• Physical examination and medical history • Age-appropriate NPO guidelines • Training and credentialing of all sedation health care providers • Pre-, intra-, and postprocedural monitoring with equipment that is size/ age appropriate, and MRI compatible • Visual observation of sedated patients, via window, camera, or video • Resuscitation equipment, size and age appropriate, in near proximity • Continuous assessment and recording of vital signs and oxygenation, during procedure, and until complete return to baseline • Designated recovery area • Guidelines for postsedation discharge and follow-up • Quality assurance program that tracks complications and morbidity MRI, magnetic resonance imaging; NPO, nothing per os. Adapted from Kanal E, Barkovich AJ, Bell C, et al: ACR guidance document for safe MR practices: 2007, AJR Am J Roentgenol 188:1447-1474, 2007.

e-Table 24-9

e9

Appearance of Blood at Various Stages of Hemorrhage T1

T2

GRE

Hyperacute (4-6 h) Acute (7-72 h)

Isointense

Hyperintense

Hypointense

Isointense

Hypointense

Early subacute (4-7 d)

Peripheral hyperintensity and central isointensity Hyperintense

Central hypointensity and peripheral hyperintensity Hypointense with some central hyperintensity Hyperintense

Hypointense

Peripheral hypointensity and central hyperintensity Hypointense with central hyperintensity

Hypointense

Late subacute (1-4 wk) Early chronic (months)

Peripheral iso- to hypointensity and central hyperintensity Hypointense

Late chronic (months to years)

Hypointense

Hypointense

GRE, gradient echo.

Ao LA

7 5

6

Ao

1 Right sequestration 2 Left sequestration 3 Systemic feeder 4 Left draining vein 5 Right draining vein 6 Common draining vein 7 Right inferior pulmonary vein 8 Celiac axis 9 SMA 10 IMA Ao Aorta LA Left atrium LK Left kidney RK Right kidney

4 2

1 3 8

RK

9

LK

10

A

B

e-Figure 24-10  A and B, Three-dimensional (3D) volume-rendering reconstruction of bilateral sequestrations in the lower lobes as demonstrated by 64-slice multidetector spiral CT. Arterial blood supply is from the abdominal aorta. The common venous return is directed into the right inferior pulmonary vein consistent with intralobar sequestrations.

e10

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

e-Table 24-10

Metabolites Detected in the Brain by Magnetic Resonance Spectroscopy

Metabolite

Location/Frequency

Role and Significance

Increased Levels

Decreased Levels

NAA (N-acetylaspartate) Creatine

2.02 ppm

Marker of healthy neurons

Canavan disease

3.0 ppm

Trauma, hyperosmolar states

Cho (choline)

3.2 ppm

Energy storage, ATP metabolism Membrane metabolism and turnover

Brain injury—ischemia, trauma, infection, tumor, metabolic derangement, dementia Hypoxia, stroke, tumor, hepatic dysfunction

Myo, mI (myoinositol)

3.56 ppm

Glial marker, osmolyte, membrane metabolism

Glx (glutamate and glutamine) Lactate

2.1-2.4 ppm

Lipid

0.9 and 1.3 ppm

Amino acid neurotransmitters End product of glycolysis, anaerobic metabolism Membrane destruction

Citrate

2.6 ppm

?

Taurine

3.4 ppm

? Regulator of membrane stabilization

1.35 ppm

Tumors, inflammation, chronic hypoxia, gliosis, leukodystrophies Neonates, hyperosmolar states, low-grade glioma, diabetes, demyelinating disease Severe hypoxia, hepatic encephalopathy Hypoxia, tumors, cystic necrosis, abscess, mitochondrial disease Acute stroke, acute inflammation and abscess, high-grade tumors DIBSG, atypical supratentorial low-grade glioma Medulloblastoma, developing cerebellum

Stroke, hepatic dysfunction, encephalopathy, postradiation therapy Stroke, chronic hepatic encephalopathy, choroid plexus papilloma, ependymoma and astrocytoma ? Neurodegenerative disease

DIBSG, diffuse intrinsic brainstem glioma. From Gillard JH, Waldman AD, Barker PB: Clinical MR neuroimaging: Diffusion, perfusion and spectroscopy, Cambridge and New York, 2005, Cambridge University Press.

Red marrow Cartilage Yellow marrow

Infant

Childhood

Adolescent

Adult

e-Figure 24-11  Marrow conversion. Diagram of axial and appendicular marrow distribution as a function of age, as red marrow progressively converts to yellow marrow. (From Helms CA, Major NM, Anderson MW, et al: Musculoskeletal MRI, ed 2, Philadelphia, 2009, Elsevier Saunders.)

24  |  Fundamentals of Pediatric Radiology



A

e11

C

B

e-Figure 24-12  Patient presenting with palpable right cheek mass: Odontogenic keratocyst. A, Axial unenhanced CT image on the soft tissue window setting at the level of a palpable mass. There is a cystic expansile mass of the right maxillary sinus without calcifications or a matrix. B, Contrast-enhanced examination at the same level delineates no enhancement. C, Coronal image on the bone window setting delineates expansion and remodeling of the walls of the right maxillary sinus with a tooth (dotted arrow) protruding into the cyst. Image appears reversed as the coronal image was a direct acquisition.

A

B

e-Figure 24-13  Patient presenting with left ear pain: Complicated mastoiditis with epidural abscess and sigmoid sinus thrombosis. A, Axial contrast-enhanced CT image through the temporal bones on the temporal bone window setting demonstrates opacification of both middle ears and mastoids. B, Soft tissue window setting at the same level demonstrates normal enhancement of the right venous sinuses (solid arrow) and no enhancement of the left venous sinuses, with a large area of hypoattenuation (dotted arrow) compatible with epidural abscess and venous sinus thrombosis.

e12

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

e-Figure 24-14  Patient with left sensorineural hearing loss: Common cavity malformation. A, Axial CT through the right temporal bone demonstrates a normally formed cochlea (upper arrow) and horizontal semicircular canal (lower arrow). B, Axial CT through the left temporal bone demonstrates an amorphous cystic cavity (arrow) without the formation of cochlea, vestibule, or semicircular canal. MRI demonstrated absence of the left cochlear nerve.

A

B

C

D

e-Figure 24-15  Trauma to spine. A, Axial unenhanced CT image through the mid-thoracic spine. Comminuted fractures of the vertebral body (solid arrows) and right transverse process and pedicle (dashed arrows) are visible. Note the surrounding soft tissue hematoma. B, Comminuted fracture of the suprajacent vertebral body (solid arrow) with posteriorly displaced fragment (dashed arrow) narrowing the spinal canal. C, Sagittal reconstruction, midline image, delineating the fractures of both vertebral bodies (solid arrows) and the associated loss of height and acute kyphosis. D, Sagittal reconstruction, paramedian image, delineating multilevel posterior element fractures (dashed arrows) in addition to the comminuted vertebral body fractures (solid arrows) representing trauma to the anterior and posterior columns and hence an unstable thoracic spine injury.

24  |  Fundamentals of Pediatric Radiology



A

B

e13

C

e-Figure 24-16  Patient with abnormal plain films of the cervical spine: Status posttrauma. A, Sagittal midline reconstructed CT image demonstrates acute kyphosis (arrow) of the upper cervical spine with the suggestion of a hypoplastic C3 vertebral body not dissimilar to the patient’s plain films. B and C, Coronal reconstructed image and axial image delineate a cleft in the C3 vertebral body (arrows) compatible with a congenital butterfly vertebra. The midline sagittal image was taken through the cleft, hence the appearance of hypoplasia.

e14

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

D

e-Figure 24-17  Patient presenting after head trauma. A, Unenhanced CT of the brain demonstrates a left occipital bone fracture (oblique arrow) and associated scalp hematoma. Also noted is a dense middle cerebral artery (vertical arrow), a finding associated with vascular thrombosis/occlusion. B, Axial T2 MR image at the level of the basal ganglia demonstrates hyperintensity/signal abnormality in the right basal ganglia and adjacent cortex in a middle cerebral artery distribution. C, Intracranial magnetic resonance angiography (MRA) delineates lack of flow in the right internal carotid artery (dotted arrows) and in the right middle cerebral artery (solid arrows). D, Extracranial MRA delineates a normal-appearing left internal carotid artery and an irregular, markedly attenuated right internal carotid artery (dotted arrows) compatible with posttraumatic dissection at the carotid bifurcation (solid arrow).

24  |  Fundamentals of Pediatric Radiology



A

B

C

D

e15

e-Figure 24-18  Neonatal tuberous sclerosis. A and B, Axial T2 MRI image at the level of the lateral ventricles: in the neonatal period (A) and at 6 months (B). Solid arrow points to subcortical hamartomas and dotted arrows point to subependymal nodules. In the neonatal period the subependymal nodules are markedly hypointense and become somewhat less so with myelination. The subcortical hamartomas become more hyperintense and evident. C and D, Coronal multiplanar inversion recovery (MPIR) images, also in the neonatal period and at 6 months. The subependymal nodules (dotted arrows) become less hyperintense and the subcortical hamartomas (solid arrows) become more hypointense and evident. The evolutionary changes in signal characteristics are related to progressive myelination.

e16

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

C

B

D

e-Figure 24-19  Patient presenting with increasing head size, ptosis, and change in mental status. A previous MRI was normal. A, Axial fluid attenuation inversion recovery (FLAIR) MR image delineates dilatation of the lateral ventricles/hydrocephalus (solid arrow), and hyperintense cerebrospinal fluid (CSF) in the sulci (dashed arrow); compare with hypointense CSF in ventricles, indicating abnormal CSF (infection, inflammation, tumor, or hemorrhage). B, Axial FLAIR image at the level of the perimesencephalic cistern better demonstrates hyperintense CSF in the cisterns (dashed arrow) and dilatation of the temporal horns with increased transependymal flow of CSF compatible with obstructive hydrocephalus. C, Contrast-enhanced coronal T1 image delineates shaggy dural enhancement about a small subdural empyema (dashed arrow) and thick pial meningeal enhancement about the perimesencephalic cistern (solid arrow). D, Axial T1 contrast-enhanced image at the level of the perimesencephalic cistern demonstrates pial meningeal enhancement and also enhancement of the fifth cranial nerves (dashed arrow). Lumbar tap was positive for bacterial meningitis.

24  |  Fundamentals of Pediatric Radiology



A

C

e17

B

D

e-Figure 24-20  Patient with sickle cell anemia and previous stroke. A, Collapsed image of the source data of intracranial magnetic resonance angiography (MRA). Dotted arrows point to normal left middle cerebral artery (MCA) and absent right MCA with reconstitution of a few MCA branches from superficial collateral arteries. Solid arrows point to tortuous small vessels, which represent recruitment of lenticulostriate vessels (top arrow) of the anterior circulation and thalamostriate vessels (bottom arrow) of the posterior circulation. Hence the name moyamoya, or “puff of smoke.” B, Lateral projection of the posterior circulation demonstrates thalamostriate recruitment (arrows). C and D, Right and left coronal projections of MRA (dotted arrows) point to an absent right MCA and normal left MCA, and solid arrows to an abnormal right MCA candelabra and normal left MCA.

e18

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

e-Figure 24-21  Patient unresponsive after a first-time seizure. A, Axial T2 image at the level of the occipital lobes shows numerous serpiginous linear foci (arrows) of “flow void”/hypointensity in the right occipital lobe, suggesting the nidus of an arterial venous malformation. B, Collapsed image of the source images of magnetic resonance angiography (MRA) delineates the nidus (solid arrow), enlarged feeding arteries of the right middle cerebral artery (thin dashed arrow), and right posterior cerebral artery (thick broken arrow). Arrowhead points to a draining vein.

24  |  Fundamentals of Pediatric Radiology



A

B

C

D

e19

e-Figure 24-22  Patient presenting with ear pain, headache, and change in mental status: Mastoiditis with epidural abscess and venous sinus thrombosis. A, Axial short tau inversion recovery (STIR) image through the level of the temporal bones. There is opacification of both middle ears and mastoids. On the right the sigmoid sinus and jugular vein are patent, with hypointense flow void in each (divergent arrows). On the left there is hyperintense signal, slow flow or thrombus, in the jugular vein (top arrow) and a collection in the expected location of sigmoid sinus (bottom arrow). B, Contrast-enhanced T1 image at the same level delineates avid enhancement of the left jugular vein (top arrow), and rim enhancement of an abscess in the expected location of the sigmoid sinus (bottom arrow). C, Axial image from the source images of magnetic resonance venography (MRV), showing flow in the right sigmoid sinus and jugular vein (divergent arrows) but no corresponding flow on the left. D, Coronal reconstruction of the MRV delineates patent right transverse and sigmoid sinuses and jugular vein on the right (solid arrow) and no flow/thrombosis of these structures on the left (broken arrow).

e20

Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis

A

B

C

D

e-Figure 24-23  Patient presenting with headache, anosmia, and proptosis. A, Axial T2 MR image at the level of the orbits and upper nasopharynx. A large expansile hypointense mass is present in the nasopharynx (dashed arrows) with extension into the orbits (solid arrows). B, Contrast-enhanced axial fat-saturated T1 MR image shows avid enhancement of the mass (dashed arrows) with the orbital extension well delineated (solid arrows). C, Coronal short tau inversion recovery (STIR) MR image delineates intracranial extension of the mass (solid arrow) and obstructive opacification of the maxillary sinuses (dashed arrows). D, Coronal contrast-enhanced fat-saturated T1 MR demonstrates intracranial extension (solid arrow), orbital extension, and obstruction of sinuses (dashed arrows). At biopsy: Esthesioneuroblastoma.

24  |  Fundamentals of Pediatric Radiology



e21

e-Figure 24-24  Patient with VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and limb defects) syndrome: Terminal lipoma and caudal regression. A, Sagittal midline T1 MR image of the cervical and thoracic spine delineates the tonsils, which extend below the foramen magnum (dashed arrow)/Chiari I, and a syrinx in the thoracic cord (solid arrow). B, Sagittal T2 image at the same location better delineates the syrinx and a possible smaller, hyperintense syrinx in the cord above it (dashed arrow). C, Sagittal T1 midline image through the lumbar spine delineates incomplete formation of the sacrum and coccyx and a lipoma that tethers the cord (dashed arrow). There is a large syrinx of the distal cord (solid arrow). D, Sagittal T2 image at the same location.

A

B

C

D

INDEX

Page numbers followed by “f” indicate figures, “t” indicate tables, and “b” indicate boxes. Page numbers beginning with “e” indicate online-only material.

A

Abdominal distention in newborn, 65 bilious emesis with, 664-666, 665f-667f hydrocele with, 559, 560f necrotizing enterocolitis with, 670 polycystic kidney disease with, 548-551, 549f Abdominal injuries in abused children, 215-217, 217f-218f vs. accident or illness, 231 genital trauma extending as, 708 ultrasound assessment of, 986 Abdominal masses/tumors, 684-692 causes of, 685t imaging of, 685 magnetic resonance, 998, 998f ultrasound, 983 inflammatory, 692 ultrasound imaging of, 984 locations of, 684-685, 685f, 685t in neonates, 686, 686f-688f in older children and teenagers, 691-692, 691f-692f pelvic tumors presenting as, 691-692 in toddlers and young children, 687-691. See also Neuroblastoma; Wilms tumor. hepatic lesions, 690f, 691 splenic cyst, 690f, 691 splenomegaly, 690f, 691 Abdominal pain, 412-413, 414t. See also Appendicitis. acute right-sided, in adolescent girl, 726-728, 727b, 727f, 728t in biliary tract disease, 676 computed tomography in, 992, 993f differential diagnosis of, 674-675, 675f imperforate hymen with, 691-692, 703, 705f in pancreatic disease, 676, 679f recurrent, 413 Abdominal palpation, in urologic examination, 559 Abdominal radiography, 971-973 Abdominal wall defects, 678-684 gastroschisis, 678-681, 680f-681f omphalocele, 678-681, 680f cloacal exstrophy with, 568, 569f, 680f vs. umbilical hernia, 61 umbilical hernia, 681, 681f in newborn, 61, 61f Abducens nerve palsy. See Sixth cranial (abducens) nerve palsy. Abetalipoproteinemia, 435-437 Abrasions corneal, 771, 772f inflicted, 191, 194f oral, 794 Abruptio placentae, 53, 53f Abscess(es) anorectal, 676, 678f appendiceal, 672-674, 674f vaginal discharge secondary to, 712, 713f Bartholin gland, 720, 722f bowel perforation leading to, 692

Abscess(es) (Continued) brain, 604, 606f cervical lymph node, 644f dental, 791-792, 791f-792f sinusitis and, 936 epidural frontal sinusitis with, 940-941, 941f Lemierre disease with, 1011f in lumbar spine, 1019f mastoiditis with, e11f, e19f intra-abdominal, ultrasound imaging of, 984 orbital, 942-943, 943f parapharyngeal, 949-950, 951f peritonsillar, 947, 947f pharyngeal, soft palate laceration leading to, 795 of preauricular cyst, 921, 921f retropharyngeal, 949, 950f false-positive radiograph of, 965, 967f scrotal, 577 sinusitis progressing to, 940-941, 941f skin and soft tissue, 488-498 breast, 490, 490f, 658-660 maternal, 72-73, 73f furuncle (boil) as, 489-490, 489f hidradenitis suppurativa as, 490, 490f, 658 paronychia as, 365, 366f, 489, 489f scalp, 491, 491f urachal, 563f Absence seizures, 614, 614f-615f Acanthocytes, 435-437, 436f Acanthosis nigricans, 358, 359f insulin resistance with, 395, 399, 399f Accommodative esotropia, 737, 737f-738f ACE (angiotensin-converting enzyme) inhibitor renogram, 1024 Acetazolamide brain SPECT imaging, 1030 Achalasia, 410, 410f aspiration secondary to, 636-637 Achilles reflex, 585, 587f Achondrogenesis, 862-863 Achondroplasia, 10, 862-863, 865, 866f complications of, 866-867 Acidemias, organic, 34t, 35, 42, 42f Acne, 335, 336f neonatal, 342-343, 343f Acoustic neuromas, in neurofibromatosis 2, 589-590 Acrocentric chromosome, 2f Acrocephalosyndactyly syndromes, 897 Acrocephaly, 893t, 896 Acrofacial dysostosis, 901, 901f Acromegaly, 377 Acromioclavicular joint, examination of, 260 Acropustulosis, infantile, 323, 325f ACTH. See Adrenocorticotropic hormone (ACTH). ACTH stimulation testing, 390, 393-394 Actinomycotic adenitis, 503 Activated partial thromboplastin time (aPTT), 443-444

Acute hemorrhagic edema of infancy, 288, 289f, 328-330 Acute lymphoblastic leukemia, 451f, 455 bone and joint manifestations of, 464-465, 465f orbital involvement of, 770 Acute myelogenous leukemia, 451f, 455 Acute necrotizing encephalopathy of childhood, 1017f Acute necrotizing ulcerative gingivitis, 792-793, 793f Acyl-CoA dehydrogenase deficiencies, 36-37, 36t Adams forward bend test, 807-808, 807f, 841-842 Adaptive behaviors, intellectual disability and, 99 Addison disease. See Adrenal cortex, insufficiency of. Adenitis, 500. See also Lymphadenitis, infectious. Adenoidal hypertrophy, 928-931, 930f ear and sinus infections secondary to, 142 growth impairment secondary to, 254 Adenoidectomy contraindicated with cleft palate, 944-945 submucous, 945 for Marshall syndrome, 790-791 Adenoma sebaceum, 546, 591, 591f Adenomatoid malformation, congenital pulmonary, 629, 630f, 653, 655f vs. diaphragmatic hernia, 652-653, 654f Adenopathy, 500 cervical, infectious causes of, 500, 501t malignant, 458, 500 Adenosine deaminase deficiency, 139 Adenovirus infections, 474, 474f cervical adenopathy in, 501t conjunctivitis in, 750, 751f tonsillitis in, 945-946 ADHD (attention-deficit/hyperactivity disorder), 105-107, 106f Adhesions, postoperative, intestinal obstruction secondary to, 668 Adie tonic pupil, 767 Adrenal cortex congenital hyperplasia of, 389-390 ambiguous genitalia in, 390, 392f late-onset, 393-394 Cushing syndrome and, 386-387, 386f-387f development of, 386 insufficiency of, 387-389, 388f-389f failure to thrive in, 254, 388 secondary, 388-389 steroid biosynthesis pathways in, 389f Adrenal hemorrhages abdominal mass associated with, 686, 688f in abused children, 217, 218f adrenal insufficiency due to, 388 in meningococcal infection, 496-497 Adrenal masses. See also Neuroblastoma. in newborn, 686, 688f Adrenal medulla development of, 386 pheochromocytoma and, 390

1037

1038

Index

Adrenal neuroblastoma, 686-688, 688f-689f Adrenarche, premature, 393-394, 394f Adrenocorticotropic hormone (ACTH), 377, 377f, 386 hereditary unresponsiveness to, 387-388 isolated deficiency of, 388-389, 389f stimulation testing with, 390, 393-394 vasopressin and, 379 Adrenoleukodystrophy magnetic resonance imaging of, 1012, 1014f neonatal, 37t, 38, 387-388 X-linked, 37t, 38, 387-388 Adynamic ileus, 973 Agammaglobulinemia, congenital, 135, 135f AIDS. See Human immunodeficiency virus (HIV) infection. Airway computed tomography of, 991 radiography of, 965-966, 966f-967f Airway obstruction. See Respiratory distress in child; Respiratory distress in newborn; Upper airway obstruction. Alagille syndrome, 424, 425f, 554-555, 554f Alanine, elevated serum level of, 39-40 Albinism, 358, 759, 760f ocular, 759-760, 760f partial, 358, 359f Albinoidism, 760 Albright hereditary osteodystrophy, 383, 385f Albumin, urinary dipstick testing for, 532 Alkaptonuria, 532 Alleles, 1 Allelic heterogeneity, 31-32 Allen object recognition cards, 732-734, 733f Allergens, 111, 112f Allergic alveolitis, extrinsic, 129 Allergic bronchopulmonary aspergillosis, 129-130, 130f, 629, 629f Allergic conjunctivitis, 130-131, 130f, 751 Allergic rhinitis, 118-120, 118f-120f, 120t, 943 sinusitis secondary to, 935, 943 Allergic sinus headache, 943 Allergic vulvitis, 709b, 712 Allergy. See also Anaphylaxis; Asthma; Hypersensitivity disorders, type I. to foods, 115-116, 115f, 116t ocular, 130-131, 130f-132f Allergy testing, 111-112, 113f, 113t of foods, 115-116 of penicillin, 116-117 Alopecia, 359-363, 361f-363f in fungal infection, 363, 365f in systemic lupus erythematosus, 271-272, 272f Alopecia areata, 361, 361f nail pitting in, 367, 367f Alpers syndrome, 40 Alport syndrome, 551-552, 551f-552f Ambiguous genitalia, 390-391, 392f, 583-584, 583f in congenital adrenal hyperplasia, 390, 392f, 583f in Denys-Drash syndrome, 553-554 in girl with imperforate anus, 583f, 584 in mixed gonadal dysgenesis, 390, 394, 583f Amblyopia, 742-743, 744f in cerebral palsy, 98 ptosis and, 743 refractive error and, 734-735 visual acuity tests and, 732 Amelogenesis imperfecta, 784, 785f Amnion nodosum, 54, 54f Amniotic band syndrome, 10, 10f, 61, 61f Amniotic bands, intestinal obstruction secondary to, 668 Anagen effluvium, 360-361 Anal and perianal variants, normal, 249, 250f-251f Anal fissures, 249, 676 bleeding from, 669, 670f Anal fistulectomy, 676, 678f Anal rape, 705-706 Anal wink, 560

Anaphase, 2f Anaphase lag, 2-3 Anaphylactoid reactions, 111-112 to drugs, 117 Anaphylaxis, 112-114 causes of, 113f drugs, 116-118 food, 115-116, 115f, 116t hymenoptera, 114-115, 115f, 331 topical medications, 368 criteria for, 112, 114t in mastocytosis patient, 338 symptoms of, 112, 113f treatment of, 112-114, 114f ANCAs. See Anti-neutrophil cytoplasmic antibodies (ANCAs). Androgen insensitivity, 390-391, 394, 560f Anemia, 429-440 aplastic, 453 bruising in, vs. inflicted injury, 219, 221f definition of, 429, 430t Fanconi, 453, 453f general categories of, 429 hemolytic. See Hemolytic anemia. of inflammation, 433 iron deficiency, 429-431, 431f with pulmonary hemosiderosis, 624 in lead poisoning, 431-432, 432f megaloblastic, 433, 433f-434f in pure red cell aplasia, 433-434, 434t of renal failure, 556-557, 557f signs and symptoms of, 429, 431f in systemic lupus erythematosus, 274 Aneuploidy, 2-3, 3f, 5. See also Trisomy entries. double, 2-3, 3f mosaic states with, 3, 3f-4f in Klinefelter syndrome, 15 in Turner syndrome, 14-15 recurrence risk for, 3 Aneurysm(s). See also Aortic aneurysm. coronary artery, in Kawasaki disease, 289-290, 292, 292f, 1022f intracranial, polycystic kidney disease with, 550 Angelman syndrome, 6-7, 6f, 18-19 Angioedema, 131-133, 132f, 326 eyelid, 130, 130f in Henoch-Schönlein purpura, 328 hereditary, 133 pinna displaced by, 918, 919f in serum sickness–like reaction, 327 Angiofibroma. See Adenoma sebaceum; Juvenile nasopharyngeal angiofibroma. Angiokeratoma corporis diffusum, 553, 553f Angioma, tufted, 348, 349f Angioneurotic edema, stridor caused by, 627 Angioplasty for aortic coarctation, 174-175, 174f for pulmonary artery stenosis, 173-174, 173f-174f Angiotensin II type 1 receptor, 26f Angiotensin II type 1 receptor blocker, for Marfan syndrome, 23 Angiotensin-converting enzyme (ACE) inhibitor renogram, 1024 Angle kappa, 739, 740f Animal bites or scratches, adenitis secondary to, 504-505, 505f Aniridia, 754-755, 754f malignancies associated with, 457-458, 458f Aniseikonia, 735 Anisocoria, 766-767 Adie tonic pupil with, 767 physiologic, 767 Anisocytosis, 429 Anisometropia, 735 Ankle. See also Lower extremity. orthopedic examination of, 811-812 range of motion of, 264, 264f, 811-812 sprainlike injuries of, 835 sprains of, 836, 837f Ankyloblepharon, 746

Ankyloglossia (tongue-tie), 781, 781f breast-feeding and, 74, 74t speech and, 93 surgical treatment of, 647-648 Anomalies, structural. See Dysmorphic conditions. Anorectal abscess, 676, 678f Anorectal gonorrhea, 724-725 Anorectal surgery, 675-676. See also Imperforate anus; Rectal prolapse. Antalgic gait, 812 Anterior drawer test, 811-812, 811f Antidiuretic hormone, 379 Anti-neutrophil cytoplasmic antibodies (ANCAs), in systemic vasculitides, 287, 293-294, 294f Anti-nuclear antibodies drug-induced, 276 in mixed connective tissue disease, 283-284 in scleroderma, 283 in Sjögren syndrome, 284 in systemic lupus erythematosus, 274-275, 276f Anti-phospholipid antibodies, in systemic lupus erythematosus, 271-275 Antley-Bixler syndrome, 391 Anus, imperforate, 9f, 546, 546f, 675, 676f-678f ambiguous genitalia in girl with, 583f, 584 Aortic aneurysm in connective tissue disorders, 20-21, 23 thoracic, familial syndrome with, 23 transforming growth factor-β and, 23 Aortic arch anomalies. See also Coarctation of the aorta. on chest x-ray double arch, 155-156, 156f right-sided arch, 155, 155f echocardiography of, 165-166, 167f Aortic atresia, hypoplastic left heart syndrome with, 165-166, 168-169, 168f Aortic coarctation. See Coarctation of the aorta. Aortic dissection, familial syndrome with, 23 Aortic outflow tract obstruction. See Aortic stenosis; Subaortic stenosis. Aortic stenosis balloon dilation of, 172-173 chest x-ray with, 154-155, 155f surgical procedures for, 170, 171f Aortic valve insufficiency, Ross procedure for, 170, 171f APECED (autoimmune polyendocrinopathy– candidiasis–ectodermal dysplasia) syndrome, 383 Apert syndrome, 897, 898f recurrent otitis media in, 917f Aphthous stomatitis, recurrent, in Behçet disease, 294 Aphthous ulcers in Crohn disease, 416, 417f recurrent (canker sores), 790-791, 791f vulvovaginal, 714-715, 715f Apical bullous lung disease, 656, 658f Aplasia cutis congenita, 363, 364f Aplastic anemia, 453 bruising in, vs. inflicted injury, 219, 221f Apnea, 636, 640 Apnea monitors, for home use, 635-636 Apocrine glands, infection of, 490, 490f Apparent life-threatening event, 636 Appendiceal abscess, 672-674, 674f vaginal discharge secondary to, 712, 713f Appendicitis, 672-675, 674f computed tomography of, 992, 993f differential diagnosis of, 728t ultrasound imaging of, 984, 985f Appendicovesicostomy, 565, 567f Appendix testis or appendix epididymis, 575 torsion of, 577, 578f “Apple peel” deformity, 664-665, 665f Apprehension test, of patella, 811, 811f APS-1 (autoimmune polyglandular syndrome type 1), 383

Index

Apt-Downey test, 669 aPTT (activated partial thromboplastin time), 443-444 Array-CGH. See Microarray-based comparative genomic hybridization (array-CGH). Arrhythmias, 158-163, 158t, 160f-163f. See also Electrocardiography (ECG). Arterial blood gas measurements, 640, 640t Arterial switch procedure, 169-170, 170f Arteriohepatic dysplasia. See Alagille syndrome. Arteriovenous malformation, intracranial with intracranial bruit, 99-101 magnetic resonance angiography of, e18f Arthritis. See also Rheumatic diseases; Septic arthritis. in Henoch-Schönlein purpura, 289 in Kawasaki disease, 291-292 in Lyme disease, 498 osteoarthritis, in skeletal dysplasias, 867 in systemic lupus erythematosus, 273 Arthrocentesis, 514 Arthrogryposis, 873-874, 874f Articular fractures, 820t, 821f Aryepiglottic folds, and aspiration, 637, 638f Ascites, 425-427, 426f, 458-460 ultrasound imaging of, 983 Ash-leaf spots, 357-358, 590-591, 592f Asperger disorder, 102, 102t, 103f Aspergillosis, allergic bronchopulmonary, 129-130, 130f, 629, 629f resection for, 658f Aspiration, 636-637, 637f-638f. See also Foreign body, in airway. congenital malformations causing, 621, 622f, 628 gastroesophageal reflux with, 636-637, 638f, 662f, 959, 959f nuclear medicine studies of, 636-637, 638f, 662, 1027, 1028f wheezing secondary to, 629 Associations, 27-29 CHARGE, 28-29, 28f definition of, 10 FAVA, 27, 29 VATER, 29, 29f Asthma, 120-129. See also Wheezing. airway remodeling in, 124-125, 125f aspiration in patient with, 636-637 chronic cough in, 621-625 clinical presentation of, 121-124 cough-variant, 626 defining characteristics of, 120-121 diagnosis of, 121-122, 123t differential diagnosis of, 126-129, 128t, 129f, 628-629 vs. bronchiolitis, 126, 127t vs. vocal cord dysfunction, 128, 629 education in as key to therapy, 124-125 for parental response to exacerbation, 122 epidemiology of, 121, 121f exercise-induced, 628-629 sports participation and, 877 factors predicting persistence of, 127, 128t histopathology of, 124-125, 125f in infancy, 621 pathogenesis of, 121-122, 122f physical examination in, 122-126 pulsus paradoxus in, 123, 124t radiographic features of, 125, 126f other causes of wheezing and, 127-128, 129f severity of in acute exacerbations, 124t guidelines for grading of, 121-122, 123t spirometry in, 637 steroid complications in, 125-126, 127f triggers of, 120-122 Astigmatism, 734f, 735 Astrocytoma, 456, 456f intracranial pressure increase with, 604, 604f subependymal giant cell, in tuberous sclerosis, 593, 593f

Asymmetrical tonic neck reflex (ATNR), 80, 81f, 81t in cerebral palsy, 96-97 Ataxia-telangiectasia, 140, 595, 595f Ataxic cerebral palsy, 98 Atherosclerosis, in systemic lupus erythematosus, 272-273 Athetoid cerebral palsy, 96, 98 Athlete’s foot, 317, 317f Athletics. See Sports. ATNR. See Asymmetrical tonic neck reflex (ATNR). Atopic dermatitis, 303-307 differential diagnosis of, 306-307 food allergy leading to, 115 keratosis pilaris in, 304-306, 307f lichenification in, 304, 306f patterns associated with, 307-309, 308f-309f phases of, 303-304, 305f-306f pityriasis alba in, 306, 307f treatment of, 307 Atopic keratoconjunctivitis, 131, 131f Atrial isomerism, 151-152, 153f Atrial septal defect chest x-ray with, 153-154, 154f echocardiography of, 163-165 with secundum defect, 163-165, 163f with sinus venosus defect, 163-165, 164f transcatheter closure of, 175, 175f-176f Atrial septostomy, 175, 175f Atrioventricular block, third-degree, 162-163, 163f Atrioventricular septal defect echocardiography of with complete defect, 163-165, 164f with partial defect, 163-165, 164f electrocardiography with, 156-158, 159f Attachment, development of, 93-94 visual impairment and, 108 Attentional weaknesses, in cerebral palsy, 98-99 Attention-deficit/hyperactivity disorder (ADHD), 105-107, 106f Aural fistulas, 58-59, 59f Auspitz sign, 300, 303f Autism spectrum disorder, 102-104, 102f-103f physical examination in, 103-104 prognosis of, 104 surveillance and screening for, 102-103, 103t Autistic disorder, 102, 102t Autoimmune polyendocrinopathy–candidiasis– ectodermal dysplasia (APECED) syndrome, 383 Autoimmune polyglandular syndrome type 1 (APS-1), 383, 387 Autoimmune thrombocytopenia, 442 Autonomic dysregulation, rapid-onset obesity in syndrome with, 399-400 Autosomal dominant polycystic kidney disease, 548-550, 549t, 550f Autosomal recessive polycystic kidney disease, 548-549, 549f, 549t Autosomes, 1 Avulsion fractures pelvic, 831-832, 832f vs. sprain, 835, 836f Avulsions of oral soft tissues, 794, 794f Axillary lesions, 658 Axillary lymphadenopathy, 502-503, 658

B

Babble, 91, 93 absent, 103 Babinski reflex, 585-587, 587f Baby bottle syndrome, 254 Back to Sleep campaign, 81-84, 181, 635-636 friction alopecia associated with, 362 plagiocephaly associated with, 892 Baclofen, for spasticity, 868 Bacterial endocarditis, 149, 151f ocular involvement in, 763 Bacterial vaginosis, 710t, 723, 724f

1039

Baker cyst, 261, 263f, 855-856, 856f Balanitis acute, 575 urinary retention secondary to, 570f Ballard assessment of gestational age, 45-46, 47f Balloon dilation. See Heart disease, congenital, interventional procedures for. Band keratopathy, arthritis with, 268, 268f Bardet-Biedl syndrome, 394 Barium contrast, 977, e6t Barium contrast swallowing study, 636-637, 637f Barium enema, 661, 665-666. See also Contrast enema. in Crohn disease, 692 in familial adenomatous polyposis, 674f in Hirschsprung disease, 666, 666f with intussusception, 667-668, 668f Meckel diverticulum and, 670-671 not effective in acute setting, 663 pelvic neuroblastoma seen with, 686f Barlow test, 849 Barth syndrome, 40 Bartholin gland abscess of, 720, 722f chlamydial infection in, 725-726 gonococcal infection in, 723-724 Basal cell carcinoma, 455-456, 456f Basilar skull fracture, 919-920, 919f Basophilic stippling, 430-432, 432f, 440 Battery in esophagus, 958 in nose, 931, 931f Battle sign, 919-920, 919f Beals contractural arachnodactyly, 23, 25f variant with hypertelorism, 25f Beau lines, 290-291, 291f Becker muscular dystrophy, 608-609, 609t Beckwith-Wiedemann syndrome, 19, 19f, 397, 398f hypoglycemia in, 397, 649-650 lingual hypertrophy in, 649-650, 650f macrosomia in, 53, 649-650, 650f malignancies in, 458 Bedbug bites, 332 vs. inflicted lesions, 222 Bee stings, 114-115, 115f, 331, 331f eyelid angioedema caused by, 130, 130f in mastocytosis patient, 338 Behavioral pediatrics. See Developmental– behavioral pediatrics. Behçet disease, 294-295, 295f genital ulcers in, 714-715 vs. Marshall syndrome, 791 Benign extra-axial fluid collections, 230, 1004f Benign migratory glossitis, 781, 781f Berger disease, 289, 537 Bernard-Soulier syndrome, 443 Biliary atresia extrahepatic, 423-424, 424f nuclear medicine imaging in, 1025, 1026f portoenterostomy for, cirrhosis secondary to, 671 Biliary tract disease, 676 nuclear medicine imaging in, 1025, 1026f ultrasound imaging in, 985-986 Bilious emesis, 411-412, 661. See also Vomiting. congenital anorectal anomalies with, 675 Bimanual examination rectal, 697 rectovaginal, 701 vaginal–abdominal, 701 Biopterin defects, 34 Biotin deficiency, 406-408, 409f Birth trauma, 54-57 bruises and petechiae, 56, 56f caput succedaneum, 54-55, 55f cephalhematoma, 55, 55f clavicle fracture, 55, 56f fat necrosis, 56, 56f meconium staining, 55-56, 56f nasal deformities, 56-57, 57f peripheral nerve damage, 57, 57f-58f Bite marks, in abused child, 191-193, 195f

1040

Index

Bites of animals, adenitis secondary to, 504-505, 505f Black diapers or undergarments, 532 Black eyes forehead hematoma leading to, 218, 220f inflicted, 186, 189f neuroblastoma with, 457-458, 457f Bladder calculi, 568-570 Bladder dysfunction neurogenic, 570, 571f nonneurogenic, 571, 571f Bladder exstrophy, 568, 569f. See also Cloacal exstrophy. Bladder rhabdomyosarcoma, 568-570, 571f Blalock-Taussig shunt, modified, 166-167, 167f, 172 Blaschkoid distribution, 356, 357f Bleeding disorders. See Coagulation disorders. Bleeding time, 443 Blepharitis, chronic, 746, 747f Blepharophimosis, 743, 745f Blepharoptosis, 743, 745f Blind spot, 731 Blindisms, 108 Blind-loop syndromes, stools associated with, 254 Blistering distal dactylitis, 224, 322, 322f Blood gas measurements, 640, 640t Blood pressure, in cardiac examination, 145 Bloody emesis, in newborn, 669 Blount disease, 853-854, 855f Blowout fracture of orbit, 770-771, 771f, 906, 906f Blue diaper syndrome, 532 Blue dot sign, 577, 578f, 683-684, 684f Blue nevus, 354, 354f Blueberry muffin rash in congenital cytomegalovirus infection, 521 in congenital rubella, 521, 522f Bobble-head doll syndrome, 616 Body mass index (BMI), 369, 370t, 371f, 401-402 Bohn nodules, 778, 780f Boil (furuncle), 489-490, 489f Bone age, radiographic determination of, 370, 974 Bone cysts aneurysmal, computed tomography of, 1010f pathologic fractures secondary to, 226, 227f Bone infections. See Osteomyelitis. Bone marrow conversion of, with age, 1000, e10f magnetic resonance imaging of, 1000 Bone marrow aspirate, for chromosomal analysis, 1-2 Bone marrow failure, 452-453 Bone scan, 1032-1033, 1033f for detecting abuse, 207, 208f occult rib fractures on, 202, 202f, 217 for osteomyelitis, 509-510, 509f, 1029 vs. septic arthritis, 514 vertebral, 512 three-phase, 1029, 1032-1033 Bone tumors. See also Ewing sarcoma; Osteosarcoma. radiography of, 974 Bottle and pacifier habits, 778, 780f Botulinum toxin, for spasticity, 868 Boutonnière deformity, 848, 848f Bowel gas after birth, 971 Bowel ischemia intussusception with, 666-667 volvulus with, 670 Bowing fractures, 817t, 819f Bowleg. See Genu varum (bowleg). Boxer’s fracture, 830, 830f Brachial plexus injury, birth-related, 57, 58f Brachmann–de Lange syndrome, 29-30, 30f Brachycephaly, 893t, 896, 896f Brain abscess, 604, 606f Brain death, nuclear medicine study of, 1030

Brain imaging. See Computed tomography (CT), of central nervous system; Magnetic resonance imaging (MRI), of central nervous system; Nuclear medicine imaging, of central nervous system. Brain tumors, 456, 456f intracranial pressure increase associated with, 456, 457f, 593, 604, 604f-606f in neurofibromatosis 1, 589 positron emission tomography of, 1030 Brainstem glioma, 604, 606f Branchial cleft and arch anomalies, 646, 646f-647f Branchio-oto-renal syndrome, 27, 921 Brasfield scoring system, 634 Breast abscess, 490, 490f maternal, 72-73, 73f surgical treatment of, 658-660 Breast development premature, 392-393, 393f Tanner staging of, 373-374, 374f-375f Breast masses, 660 Breast milk, bioactive substances in, 66 Breast pump, 74-76, 75f Breast tissue of newborn, 693 gestational age and, 47f, 48 predisposed to infection, 490 Breast-feeding, 65-77 ankyloglossia and, 74, 74t benefits of, 65-66, 66t, 402t breast changes at initiation of, 73 breast changes in preparation for, 66 breast characteristics and flat or inverted nipples, 67-68, 67f insufficient glandular tissue, 66, 67f prior breast surgery, 66 size of breasts, 66 breast problems and, 71-73, 72f-73f nipple trauma, 68, 69f, 71-74 with cleft lip and palate, 890 contraindications to, 66-67 dental caries and, 786-788 evaluation of, 67-68, 67f-69f frequency and duration of feedings in, 73-74, 74t health care providers’ role in, 66, 76-77 holding positions for, 68, 70f-71f latch in, 68, 69f asymmetrical, 70, 70f-71f with engorged breasts, 71 flat or inverted nipples and, 67-68, 68f holding positions and, 68-71, 70f inadequate, 68, 69f, 71-74 initiating, 68-70 of late preterm infants, 76-77 milk transfer assessment in, 73-74, 74t nutritional supplementation required with, 401 of premature infants, 74-76 rates of, in U.S., 66 recommendations for, 65 stools associated with, 65, 65f, 73, 74t weight changes and, 73, 74t Breathing pattern, observation of, 617-618 Bronchiectasis, chronic cough secondary to, 623, 624f, 626-627 Bronchiolitis, vs. asthma, 126, 127t Bronchiolitis obliterans, 630, 632f Bronchoalveolar lavage, 640 to obtain macrophages, 637, 638f Bronchogenic cyst, 621, 628, 629f, 653, 659f Bronchopulmonary dysplasia, 62, 63f, 630 failure to thrive in, 254 Bronchopulmonary foregut malformations, 653-656, 655f, 657f, 659f computed tomography of, 990-991, e9f Bronchoscopy flexible fiberoptic, 640 rigid, 640 Brown syndrome, 741, 741f Brown tumor, renal osteodystrophy caused by, 556, 556f Brucellosis, cervical adenopathy in, 501t

Bruises birth-associated, 56, 56f from child abuse, 186-196, 187f-193f vs. accident or illness, 218-222, 220f-223f perianal, 242-243 oral, 794 from Southeast Asian healing practices, 219, 220f-221f Bruit, cranial, 99-101, 147f, 147t Brushfield spots, 756 Bubonic plague, 505 Bucket handle fracture, 200, 201f Buckle fractures. See Torus (buckle) fractures. Bulbocavernosus reflex, 560 Bullous myringitis, 923-924, 924f Buphthalmos, in Sturge-Weber syndrome, 594, 594f Burkitt lymphoma, 451f, 458, 459f. See also Lymphoma. as intussusception lead point, 666-667 Burns in abused children, 193-196, 194t, 196f-198f vs. accidental burns, 222-225, 223f-225f sexual abuse combined with, 242-243 oral, 796, 796f Burping an infant, 927 Busacca nodules, 757 Button battery in esophagus, 958 in nose, 931, 931f Buttonhole (boutonnière) deformity, 848, 848f

C

Café-au-lait spots, 358-359, 360f conditions associated with, 588, 588t in McCune-Albright syndrome, 358-359, 360f, 392, 393f, 588 in neurofibromatosis 1, 358-359, 360f, 587-588, 588f Caffey disease, 229, 229f Caffey sign, 849 CAH. See Congenital adrenal hyperplasia (CAH). Calcaneovalgus foot deformity, 860, 861f Calcifications, abdominal malignancy with, 685 neuroblastoma, 687-688, 689f Wilms tumor, 688-691 meconium ileus with, 665-666 meconium peritonitis with, 661, 661f on radiograph, 973 Calcifications, intracranial macrocephaly with, 596, 597f in Sturge-Weber syndrome, 593-594, 594f in tuberous sclerosis, 591, 592f Calcifications, renal. See Nephrocalcinosis. Calcineurin inhibitors. See also Cyclosporine. for nephrotic syndrome, 539-540 Calcium homeostasis, 383f Calcium-sensing receptor, 381-382 Cancer, 453-467. See also Leukemia. adenopathy associated with, 458, 500 epidemiology of, in childhood, 453-454 in HIV-infected patients, 527, 528f inherited syndromes involving, 454, 454t long-term follow-up of, 466-467 nuclear medicine imaging of, 1033-1034, 1034f pulmonary metastases in, 458, 462f, 995, 996f regional findings in abdomen, 460-463, 463f-464f central nervous system, 456, 456f chest, 458-460, 461f-462f musculoskeletal, 464-467, 465f-466f ocular and otic, 457-458, 457f-459f, 769, 770f orofacial, 458, 459f-460f skin, 455-456, 455f-456f urogenital tract, 463-467, 464f signs and symptoms of, 454-467, 454t Candida infection. See also Yeast infection. chronic mucocutaneous, 137 diaper dermatitis as, 319, 319f, 487-488 in HIV-infected infants, 526, 526f

Index

Candida infection (Continued) of nail, 365 oral, 793, 793f in breast-feeding infant, 72, 72f in HIV-infected infant, 526f in severe combined immunodeficiency, 137-139, 137f vulvovaginal, 710t, 716-717, 718f Canker sores, 790-791, 791f Capillary hemangioma, orbital, 769 Capillary vascular malformation, persistent, 351-352, 352f Caput succedaneum, 54-55, 55f Carbohydrate malabsorption, stools associated with, 254 Carbohydrate metabolism genetic disorders of, 33, 35-36, 35t pathways of, 33, 33f Carbuncle, 489-490 Cardiac catheterization. See Heart disease, congenital, interventional procedures for. Cardiac disorders. See Heart disease, acquired; Heart disease, congenital. Cardio-facio-cutaneous syndrome, 31-32, 31f-32f Cardiomyopathy, in AIDS patient, 527-528, 528f Cardiopulmonary resuscitation retinal hemorrhages and, 211 rib fractures and, 203, 211, 226 Caries, dental, 251, 253f, 786-788, 787f-788f abscesses secondary to, 791-792, 792f diet and, 788, 789t Carney complex, 387 Carnitine disorders, 36, 36t Carrying angle, 808, 808f Cataracts, 756-757, 756f-758f, 757t blunt trauma leading to, 772 of galactosemia, 756-757, 758f glaucoma associated with, 754 lamellar, 756, 757f polar, 756, 757f Cat’s eye reflex, 457-458, 457f Cat-scratch disease, 504-505, 505f, 643, 644f Causality, child’s understanding of, 88, 90f Caustic ingestion, 410, 411f Cavernous sinus thrombosis, 943 Cavus feet, 861-862, 863f Celiac disease, 415, 415f-416f failure to thrive in, 254, 256 Cell life cycle, 1, 2f Cellulitis, 492-495, 493f-494f buccal, 494, 494f dacryocystitis progressing to, 749, 749f dental abscess progressing to, 791-792, 792f orbital, 768-769, 940-943, 943f parapharyngeal, 949-950 periauricular, 918, 919f periorbital diagnostic studies in, 942 from facial infection, 942, 942f by hematogenous spread, 942 vs. sinusitis, 936, 938f sinusitis progressing to, 940-942, 942f retropharyngeal, 949 Central nervous system imaging. See Computed tomography (CT), of central nervous system; Magnetic resonance imaging (MRI), of central nervous system. Central nervous system malformations, 595-601. See also Encephalocele; Spina bifida (myelomeningocele); Spinal cord, tethered; Spinal dysraphism. hydranencephaly, 599, 600f macrocephaly, 596-599, 597f-598f, 597t benign extra-axial fluid collections with, 230 in Dandy-Walker malformation, 598-599, 599f in glutaric aciduria type 1, 230 hydrocephalus with, 596-599, 597t, 598f-599f microcephaly, 599, 599t Cephalhematoma, 55, 55f Cephalic pustulosis, neonatal, 342-343, 343f Cephalosporins, and penicillin allergy, 117

Cerebellar tumors, 604, 606f Cerebral contusions, in abused child, 212, 214f Cerebral edema, computed tomography of, 1000-1001, 1002f Cerebral gigantism, 53, 99 Cerebral palsy, 96-99, 867-869 associated findings with, 98 behavioral problems in, 98-99 differential diagnosis of, 868 etiology of, 96, 867 orthopedic manifestations of, 867-869, 868f-869f physical examination in, 96-97, 96f-97f prognosis of, 98-99 scoliosis in, 839-841, 841f, 869, 869f subtypes of, 96-98, 97f-98f, 867, 868f Cerebrospinal fluid (CSF). See also Shunt, cerebrospinal fluid. leakage of, 1030-1031 nuclear medicine studies of, 1030-1031 Cerumen, 913, 917 Cervical cleft, midline, 646, 646f Cervical cytology, 702, 718-719. See also Papanicolaou (Pap) smear. Cervical lymphadenopathy, 500-503, 501f, 501t surgical treatment of, 643-644, 644f-645f Cervical os, 701, 702f Cervical spinal atrophy, congenital, 611-612, 612f Cervical spine. See also Klippel-Feil syndrome. cord compression in, by hematoma, 1018f examination of, 807 instability of, in skeletal dysplasias, 867 range of motion of, 260, 262f, 807 Cervicitis chlamydial, 724-726 gonococcal, 723-725, 724f pelvic inflammatory disease and, 726 CGH. See Microarray-based comparative genomic hybridization (array-CGH). Chalazion, 746, 747f-748f Charcot-Marie-Tooth disease, 610-611, 612f cavus feet associated with, 861-862, 863f CHARGE association, 28-29, 28f delayed puberty in, 394 Chédiak-Higashi syndrome, 449, 450f Chemical irritant vulvovaginitis, 709b, 712, 712f Chemosis of conjunctiva, 750-751 Chest auscultation of, 618-619, 618f computed tomography of, 990-992, 991f-992f magnetic resonance imaging of, 995, 996f palpation of, 618 percussion of, 618 Chest injuries. See Rib fractures; Thoracic injuries. Chest surgery, 648-656 of diaphragmatic hernia, congenital, 651-652, 654f of esophageal atresia with or without fistula, 651, 652f-654f introduction to, 648-649 of lung, 653-656 for blastoma, 655-656, 656f for foregut malformations, 653, 655f, 657f for foreign body, 656, 659f for infections, 656, 658f-659f for pneumothorax, 656, 658f of mediastinal masses, 650-651, 651t, 652f of upper airway, 649-650, 650f-651f of vascular ring anomalies, 652-653, 654f Chest wall computed tomography of, 992 surgery of, 656-660 of axillary lesions, 658 of breast, 658-660 of chest wall deformities, 656-658, 660f Chest x-ray, 966-971 approach to interpretation of, 966-967, 968f heart shape and age in, 969, 969f mediastinum in, 968 neonatal, 969-970 congenital heart disease and, 970 congestive heart failure and, 970, e4f

1041

Chest x-ray (Continued) diffuse pulmonary disease and, 970, 971t focal lung lesions and, 970 mediastinal masses and, 970-971 technical factors in, 968 thymus in, 968-969, 969f, e3f Chest x-ray in cardiac evaluation, 150-156 with barium swallow, 155-156, 156f-157f cardiac apex and visceral situs in, 151-152, 152f-153f cardiac shape and size in, 152-154, 153f-154f great vessels in, 154-156, 155f-157f pulmonary vascularity in, 156, 157f-158f skeletal abnormalities in, 156, 158f Chest x-ray in pulmonary evaluation, 619, 620f in cystic fibrosis, 634, 635f Chickenpox (varicella), 471, 472f-473f high-dose steroids and, 368 Child abuse, emotional, 256 Child abuse, overview. See also Child abuse, emotional; Child abuse, physical; Child abuse, sexual; Neglect. approach to diagnosis of, 182 follow-up needed with, 256-257 incidence of, 181 misclassified as unfounded report, 181 reporting of, 181, 183, 256 by radiologist, 974 risk factors for, 182-184, e2t socioeconomic status and, 182 team approach to, 256-257 Child abuse, physical, 183-186. See also Child abuse, overview. abdominal injuries in, 215-217, 217f-218f vs. accident or illness, 231 vs. accident or illness, 217-231 with abdominal injuries, 231 with burns, 222-225, 223f-225f with chest injuries, 231 with fractures, 225-229, 227f-229f with head injuries, 229-230, 231f with oral injuries, 230 with surface bruises, 218-222, 220f-223f with tourniquet injuries, 225, 225f approach to diagnosis of, 183-185 behavioral red flags for, 185-186, 186t crying in young infants and, 184 definition of, 183 vs. discipline, 186 fatalities caused by, 181-182 with head injury, 207-208 risk factors for, 184 fractures in, 197-207 vs. accidental fractures, 225-226 vs. associated or mimicking conditions, 227-229, 227f-229f of clavicle, 206, 206f, 826 diagnostic imaging of, 206-207, 208f of elbow, 827, 828f of hands and feet, 206, 207f of long bones, 203-206, 204f-206f metaphyseal, 200, 200f-201f with head injury, 203, 209, 211 vs. osteogenesis imperfecta, 226, 873 vs. pathologic fractures, 226, 227f radiographic signs of healing and, 199-200, 199f-200f, 202f-204f of ribs, 200-203, 202f-203f, 219f with head injury, 203, 209, 211 with intrathoracic injuries, 217, 219f vertebral, 206 head injuries in, 207-215 vs. accident or illness, 229-230, 231f clinical picture of, 211-212, 212f-215f epidemiology of, 207-208 imaging methods for, 212-215, 216f, 1003f pathophysiology and biomechanics of, 208-209 with rib and metaphyseal fractures, 203, 209, 211 sequelae of, 207-208 shaking and, 209-213, 210f, 213f, 216f, 758 historical red flags for, 185, 186t

1042

Index

Child abuse, physical (Continued) history guidelines for, 184t, 185 interviewing child, 186 interviewing siblings, 186 intrathoracic injuries in, 215, 219f vs. accident, 231 methods used in, 183t nasal injuries in, 197, 199f oral injuries in, 196-197, 199f vs. accidental injury, 230 perpetrator’s identity in, 184-185 physical examination for, 183-184, 185t presentation of, 183-184 risk factors for, 184 spinal cord contusions in, 209 surface marks in, 186-196. See also Bruises; Burns; Restraint injuries; Scars; Strangulation; Tourniquet injuries; Welts. abrasions and lacerations, 191, 193f-194f bite marks, 191-193, 195f discipline and, 186 documentation of, 186, 191 internal injury and, 190-191 myoglobinuria secondary to, 191, 193f skeletal survey and, 191 weapon imprints, 189, 191f-192f triggers for, 183-184 Child abuse, sexual, 231-249. See also Child abuse, overview. approach to evaluation in, 232 definition of, 231 differential diagnosis of, 246-249, 246f-251f false accusations of, 233 forms of, 231-232 interviewing child in, 232-233 avoiding repetition of, 233-234 drawings used for, 232, 233f interviewing parents in, 232 legal chain of evidence in, 244, 245t modes of presentation of, 234, 234t perpetrator characteristics in, 231-232 perpetrator’s coercive strategies in, 232 physical examination in approach to, 232, 234 gynecologic terminology for, 238t, 239f internal injury and, 237-239, 244 normal anatomy and, 239-240, 239f perianal, 235-236, 238-239 techniques of, 235-239, 235f-238f physical findings in, 239-244, 706-708, 706f-707f, 711 anal and perianal abnormalities, 241f, 242-243 evidence of infections, 243-244, 243f, 715 foreign bodies, 712f, 713 with male victims, 241f, 242-243, 243f nongenital injuries, 240 normal variants and, 239-240, 246, 246f-247f oral abnormalities, 242 perineal abnormalities, 240-242, 240f-242f seminal products, 242, 242f, 244 prevalence of, 231 as rape, 232 specimens required in case of, 244, 245t reporting of, 231, 256 sexualized behavior secondary to, 232, 234 diseases transmitted in, 244 specimen collection in, 244, 245t Child life specialists, 961 Child Protective Services (CPS), 183, 231, 256 Childhood disintegrative disorder, 102 Childhood interstitial lung disease (chILD), 621-622, 623f Chin lacerations, 795, 795f Chlamydia trachomatis infection, 243-244, 719t, 725-726 Bartholin gland abscess in, 720, 722f cultures for, 244 with prepubertal girl, 697-698 with pubertal girl, 700-702 gonococcal infection coexisting with, 724-726 nucleic acid tests for, 698, 701-702

Chlamydia trachomatis infection (Continued) pelvic inflammatory disease in, 726, 728 pneumonia in, 620-621, 621f vaginal discharge in, 710t Choanal atresia, 649-650, 927-928, 928f Choanal stenosis, 928 Choking, attempted, 186-188, 190f Choking on foreign body. See Foreign body, in airway. Cholangiopancreatography, magnetic resonance, 998 Cholecystitis, ultrasound imaging of, 985 Choledochal cyst, 423-424, 424f, 676, 679f Cholelithiasis, 676, 678f ultrasound imaging of, 982f, 985 Cholestasis. See Jaundice. Cholesteatoma, 925-926, 926f, 944 Cholesterol, defects in biosynthesis of, 41-42, 42f Chondrodysplasia punctata rhizomelic, 37t, 38, 42 X-linked dominant, 42 Chondromalacia patellae, 261 Chordee, 559, 571-572, 572f Chorea, 616 Choreoathetoid cerebral palsy, 96 Choreoathetosis, 616 Chorioamnionitis, 53-54, 54f Choroid. See also Retinochoroiditis. rupture of, 772, 772f Choroid plexus papilloma, 604, 604f, 1016f “Christmas tree” deformity, 664-665, 665f Chromatids, 2f Chromosomal abnormalities. See also Dysmorphic conditions; Genetic disorders; Microdeletion syndromes; Translocations, chromosomal. aniridia associated with, 755 in dysmorphologic differential diagnosis, 10 findings suggestive of, 5 incidence of, 5, 5t in multiple malformation syndromes, 29-30 of number. See Aneuploidy. parent support organizations for, 14 recurrence risk for, 3-5 of structure, 3-5, 4f carriers of, 3-5, 4f, 12 Chromosomal analysis. See Cytogenetic analysis. Chromosomal rearrangements. See Translocations, chromosomal. Chromosomes general nature of, 1, 2f p and q arms of, 2f Chronic granulomatous disease, 140-141, 141f Chronic infantile neurologic cutaneous articular syndrome, 296 Chronic myelogenous leukemia, priapism in, 464 Churg-Strauss syndrome, 293-294 Cigarette burns accidental, 224 inflicted, 196, 198f lesions often mistaken for, 224-225, 225f Ciliary dyskinesia, respiratory symptoms associated with, 623-624, 626-627 Cimetidine, for Marshall syndrome, 790-791 Circumcision adhesions associated with, 559 buried penis following, 573, 573f concerns secondary to, 573-574, 573f-574f Circumvallate placenta, 53, 53f Cisternogram, radionuclide, 1030 Classic cradle position, for breast-feeding, 68, 70f, 71 Clavicle congenital pseudarthrosis of, 227, 227f, 846, 846f fracture of, 817f, 826 in abused child, 206, 206f, 826 birth-associated, 55, 56f vs. congenital pseudarthrosis, 227, 227f Claw toes, 861-862, 863f

Cleft lip, nose, and palate, 9f, 59, 59f, 890-892, 890t, 891f, 943-945 infections associated with, 142 otitis media, 59, 890-891 natal teeth associated with, 778, 780f in oculo-auriculo-vertebral spectrum, 901 in Pierre Robin sequence, 10, 59, 902-903, 943-944, 944f submucous, 945, 945f supernumerary teeth associated with, 783, 784f types of, 944, 944f Cleidocranial dysplasia clavicular abnormalities in, 846 supernumerary teeth associated with, 783 Clinodactyly, 9f in Down syndrome, 101 Clitorectomy. See Female genital cutting. Clitoris, enlarged, with labial fusion, 9f Cloacal anomaly, 675, 677f Cloacal exstrophy, 568, 569f, 680f Closure time, 443 Clotting factor deficiencies, bruising in, vs. inflicted injury, 219-220, 221f Cloverleaf deformity, 893t, 896-898 Club hand, radial, 846, 847f Clubbing causes of, 618, 619t in congenital heart disease, 145, 146f-147f in cystic fibrosis, 618, 619f, 633-634 in inflammatory bowel disease, 418, 420f in lymphoid interstitial pneumonitis, in AIDS, 528f stages of, 619f Clubfoot, 9f, 10, 856-857, 858f in Ehlers-Danlos syndrome, 26 vs. normal radiograph, 859f Clue cells, in vaginal secretions, 723, 724f Coagulation disorders, 441-445. See also Thrombocytopenia; Thrombosis. disseminated intravascular coagulation, 447, 447f, 447t epistaxis in, 934 microangiopathic changes and, 447 of primary hemostasis, 442-443, 442f-443f rare, 444, 445t of secondary hemostasis, 443-444, 444f subdural hematoma associated with, 230 traumatic brain injury leading to, 221 tumor-related, 447f von Willebrand disease, 445 vs. inflicted injury, 220, 230 Coagulation system, 441-445, 441f Coarctation of the aorta on chest x-ray, 154-155, 155f with rib notching, 156, 158f echocardiography of, 165-166, 167f magnetic resonance imaging of, 996, 997f transcatheter interventions for, 174-175, 174f Coats disease, 760, 760f Cobblestoning, allergic, of conjunctivae, 130-131, 130f Codons, 19-20 Cognitive development. See Developmental– behavioral pediatrics, cognitive development in. Cognitive developmental delay, 90-91, 90t Cognitive impairment. See also Intellectual disability. in cerebral palsy, 98 Coil embolization of collaterals, in congenital heart disease, 176 of coronary artery fistulae, 177 Coin rubbing, 219, 220f Cold injury, as popsicle panniculitis, 494, 495f Cold sores. See Herpes simplex virus (HSV) infections. Cold urticaria, 132-133, 133f Collagen gene mutations in Ehlers-Danlos syndrome, 23, 23t in osteogenesis imperfecta, 20, 27, 27f, 870 in Stickler syndrome, 28f

Index

Collagen vascular disease complement disorders presenting as, 142 optic neuritis in, 767 Collodion baby, 343, 343f Coloboma eyelid, 746, 747f, 901 iris, 754, 754f orbital, 1008f retinal, 758, 759f Color vision, 765-766 Colostrum, 73 hand expression of, 74-75 Comminuted fractures, 816-817, 817t, 819f Common variable immunodeficiency, 136 Compartment syndromes, 816, 832-833 Complement disorders, 138t, 142 hereditary angioedema as, 133 Complement levels, in acute glomerulonephritis, 536 Complete heart block, 162-163, 163f Compression/distraction fractures, in abused children, 205-206, 205f-206f Computed radiography (CR), 965 Computed tomographic angiography (CTA), 996-998, 1002, 1005f-1007f Computed tomographic venography (CTV), 1002 Computed tomography (CT), 988-993 advantages and disadvantages of, 962t basic principles of, 988-989, 990f-991f of central nervous system of brain, contrast-enhanced, 1001-1002, 1004f of brain, unenhanced, 1000-1001, 1000f, 1002f-1004f density of specific structures in, 1000, 1001t guidelines for, 1001t radiation doses in, e8t role of, 1000-1007 of spine, 1007, 1010f-1011f, e12f-e13f contrast agent use in, 989 multidetector scanners in, 1000 nonneurologic indications for, 991t abdomen and pelvis, 992-993, 993f chest, 990-992, 991f-992f, e8f-e9f skeletal system, 993, 993f skull and facial bones, 1002-1007, 1008f1009f, e11f-e12f PET combined with, 1019, 1034f radiation doses in, 963, 963t, 964f-965f, 989, 1000, e8t SPECT combined with, 1015-1019, 1033f three-dimensional, 989, 991f, 993, 993f Concussion, 888 Condylar fractures, 820t, 822f Condylomata acuminata, 243-244, 243f, 336, 718-719, 719t, 720f Condylomata lata, 720, 721f Congenital adrenal hyperplasia (CAH), 389-390 ambiguous genitalia in, 390, 392f, 583f late-onset, 393-394 Congenital adrenal hypoplasia, 387-388 Congenital and perinatal infections, 520-528 cytomegalovirus, 521, 522f in dysmorphologic differential diagnosis, 10 herpes simplex, 521-523, 522f HIV and AIDS, 526-528, 526f-528f, 528t intellectual disability and, 101 rubella, 521, 522f syphilis, 523-524, 524f tetanus, 524-526, 525f toxoplasmosis, 520-521, 520f Congenital anomalies. See also Dysmorphic conditions; specific anomalies. cough associated with, 621, 622f-623f neonatal assessment of, 57-62 amniotic bands, 61, 61f cleft lip and palate, 59, 59f external ear, 58-59, 59f hands and feet, 58, 58f-59f hip dislocation, 60-61, 61f midline defects, 59-60, 60f

Congenital anomalies (Continued) scrotal swelling, 62, 62f skin, 60, 60f umbilical hernia, 61, 61f urogenital, 391, 393f. See also Ambiguous genitalia; Nephrology, developmental abnormalities in. Congenital cervical spinal atrophy, 611-612, 612f Congenital heart disease. See Heart disease, congenital. Congestive heart failure failure to thrive in, 254, 255t hepatic hemangiomas with, 346-347, 348f in newborn, chest x-ray and, 970, e4f vascular malformations with, 1015f Conjunctiva anatomy of, 732f, 744f, 749 hemorrhage beneath, 751, 751f, 771 laceration of, 771 Conjunctivitis, 749-751, 750f-751f allergic, 130-131, 130f, 751 bacterial, 749-750, 750f follicular, 750, 750f giant papillary, 131, 132f, 750 in Kawasaki disease, 290-291, 290f neonatal, 749-750 otitis media with, 922 papillary, 750, 750f phlyctenular, 751, 751f sinusitis with, 936, 938f vernal, 131, 131f viral, 750, 751f Connective tissue disease, mixed, 283-284, 284t Connective tissue disorders, genetic, 20-27, 23t. See also specific disorders. Conradi-Hünermann-Happle syndrome, 42 Constipation, 420-422, 422f-423f abdominal pain in, 728t anal fissures and perianal skin tags secondary to, 249, 250f in Hirschsprung disease, 666 in infant, 65 Constitutional delay of growth, 370, 372f Contact dermatitis, 311-315 common offending agents in, 312-313, 314f id reaction in, 315 management of, 315 photocontact, 222, 222f, 313-315, 315f pinna displaced by, 918, 919f poison ivy causing, 311-312, 313f topical medications leading to, 368 vulvovaginal, 709b, 712 Contact lenses corneal ulcers related to, 752-753 giant papillary conjunctivitis associated with, 131, 132f, 750 Contrast agents anaphylactoid reactions to, 117 in computed tomography, 989 nephrotoxicity of, 1002 fluoroscopic, 974, 977, e6t in magnetic resonance imaging, 994-995, 995f, 1007, e8t Contrast enema, 661, 665-666. See also Barium enema. diagnostic, 977-978, 978f for Hirschsprung disease, 979 for intussusception, 667-668, 668f, 978 for meconium ileus, uncomplicated, 978, 978f Contusions. See also Bruises. oral, 794 Convergence insufficiency, 739-740 Cooley anemia, 440, 556-557, 557f Coombs tests, 438-439, 439f Copper deficiency, 228, 406-408, 408f Copy number changes, 1-2, 6-7 Cor pulmonale, adenoidal and tonsillar hypertrophy with, 929-930, 930f Corectopia, 757 Corneal abrasions, 771, 772f Corneal blood staining, 772, 772f Corneal diseases, 751-753, 752f-753f. See also Keratoconjunctivitis.

1043

Corneal light reflex test, 741, 742f Corneal ulcers, 752-753, 752f Corneal-limbal dermoid, 746, 747f, 751-752, 752f Cornelia de Lange syndrome, 29-30, 30f Coronal synostosis, 893, 896, 896f syndromes with, 897 Coronary artery aneurysms, in Kawasaki disease, 289-290, 292, 292f, 1022f Coronary artery anomalies computed tomography of, 992, 992f left coronary artery from pulmonary artery, 156-158, 160f Corticosteroid therapy for asthma complications of, 125-126, 127f trial of, 626 for contact dermatitis, 315 for croup, 952-953 Cushing syndrome secondary to, 387 for eosinophilic esophagitis, 409-410 for Henoch-Schönlein purpura, 289 for idiopathic thrombocytopenic purpura, 443 for infantile hemangiomas, 348 for juvenile dermatomyositis, 287 for juvenile idiopathic arthritis, 268-269 for Marshall syndrome, 790-791 for nephrotic syndrome, 538-540 for systemic lupus erythematosus, 273-274 for systemic sclerosis, 280 topical, complications of, 367-368, 367f-368f Co-sleeping with adult, deaths associated with, 181 Costello syndrome, 31-32, 31f-32f Cotton-wool spots, retinal, 763-764, 772 Cough, 619-627 causes according to age, 620, 621t diagnostic approach to, 626-627, 626t evaluation of, 617, 625-626, 625t after foreign body aspiration, 953-954 function of, 619-620 in infancy (