Sudden death in infancy, childhood, and adolescence

SUDDEN DEATH IN INFANCY CHILDHOOD AND ADOLESCENCE SECOND EDITION

Roger W. Byard

Sudden Death in Infancy, Childhood and Adolescence

This unique, comprehensive survey of virtually all aspects of sudden death in infancy and childhood will be an essential reference source for pathologists, clinicians, and lawyers who deal with such cases. Individual sections deal in detail with deaths due to inflicted and non-inflicted injuries and due to natural diseases. This new edition includes 1200 new references, 300 new illustrations, and an extensively revised chapter on sudden infant death syndrome. The intentional injury chapter has additional material on head trauma, the biomechanics of injury, neonaticide, suicide, and subtle and unusual trauma. The chapter on non-intentional injury has also been expanded to reflect more accurately its importance as a cause of death. Deaths in the first week of life are also covered. In addition, this new edition addresses the full range of natural causes of death and their pathological investigation undertaken in light of advances in our understanding of genetic susceptibility and pathophysiology.

Roger W. Byard qualified in medicine in Australia in 1978 and obtained an LMCC in Canada in 1982. He holds fellowships in anatomical pathology in Canada (FRCPC), the UK (FRCPath), and the USA (FCAP), and in family medicine with the Canadian College of Family Physicians (CCFP). He has a specific interest in sudden infant and childhood death. He has written over 270 papers in peer-reviewed journals, and 35 chapters, many of which deal with this subject. He has also presented or co-authored over 200 papers at national and international meetings. In addition to Sudden Death in Infancy, Childhood and Adolescence he has co-edited Sudden Infant Death Syndrome: Problems, Progress and Possibilities (2001), and is also currently co-editing an encyclopedia of forensic and legal medicine. He has an interest in preventive pathology and coordinates childhood

accident prevention through the “Keeping Your Baby and Child Safe Program” in South Australia. Professor Byard has presented workshops on pediatric forensic pathology and medicine in a number of countries in Europe, North America, Africa, and Asia.

“ . . . a valuable new addition to the literature.” S. Gould, Archives of Disease in Childhood “I highly recommend this book as a unique and indispensable reference for all forensic pathologists.” S. Dana, American Journal of Forensic Medicine and Pathology

From reviews of the first edition “This is an outstanding book for practitioners, pathologists, and researchers . . . Each chapter reads like a conference in which the pathologist holds the clues and answers questions from the clinician and other investigators from the autopsy table.” R. L. Ariagno, New England Journal of Medicine “ . . . the overall impression is of a volume based on sound scholarship and experience.” W. R. Roche, Lancet

“ . . . it is the book to turn to when faced with the investigation of a sudden death in infancy or childhood, or the interpretation of findings in these cases.” J. Keeling, Paediatric and Perinatal Epidemiology “The authors have produced a single, comprehensive source of information on virtually all aspects of sudden death in infants and children.” From the foreword to the 1st edition by V. DiMaio, Editor in Chief, American Journal of Forensic Medicine and Pathology

Sudden Death in Infancy, Childhood and Adolescence Second Edition

Roger W. Byard Specialist Forensic Pathologist, Forensic Science Centre, Adelaide; Clinical Professor, Departments of Pathology and Paediatrics, University of Adelaide; Consultant Paediatric Forensic Pathologist, Child Protection Unit, Women’s & Children’s Hospital, Adelaide, Australia

cambridge university press Cambridge, New York, Melbourne, Madrid, Cape Town, Singapore, São Paulo Cambridge University Press The Edinburgh Building, Cambridge cb2 2ru, UK Published in the United States of America by Cambridge University Press, New York www.cambridge.org Information on this title: www.cambridge.org/9780521825825 © Cambridge University Press 2004 This publication is in copyright. Subject to statutory exception and to the provision of relevant collective licensing agreements, no reproduction of any part may take place without the written permission of Cambridge University Press. First published in print format 2004 isbn-13 isbn-10

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What greater pain can mortals bear than this; to see their children die before their eyes? Attributed to Euripides 480–406 BC

(Russell-Jones, D. L. (1985). Sudden infant death in history and literature. Archives of Disease in Childhood, 60, 278–81.)

´ Alice, and Sophie To Renee,

Contents

Foreword Preface Preface to the first edition Acknowledgments

page ix xi xiii xv

Part I Introduction 1

Sudden pediatric death: an overview

3

Part II Unintentional trauma 2

Accidents

11

with Stephen D. Cohle

Part III Intentional trauma 3

Homicide and suicide

77

with Stephen D. Cohle

Part IV Natural disease 4

Infectious conditions

167

5

Cardiac conditions

202

6

Vascular conditions

249

7

Respiratory conditions

328

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Contents

8

Neurologic conditions

350

9

Hematologic conditions

393

Gastrointestinal and genitourinary conditions

412

11

Metabolic and endocrine conditions

438

12

Miscellaneous conditions

469

10

Part V Sudden infant death syndrome 13

Sudden infant death syndrome

491

Appendix I Autopsy information pamphlet

576

Appendix II Pediatric forensic autopsy guidelines

578

Appendix III The Sudden Unexplained Infant Death Investigation Report Form

586

Appendix IV International Standardized Autopsy Protocol

597

Appendix V Autopsy checklist for possible non-accidental injury

612

Appendix VI Autopsy checklist for possible metabolic disorders

613

Appendix VII Autopsy checklist for possible sepsis

615

Appendix VIII Autopsy checklist for possible poisoning

617

Index Color Plates between pages 270 and 271

619

Foreword

It is a somewhat daunting task to provide a foreword to such an impressive work of scholarship, which now encompasses a wide spectrum of deaths from birth to early adulthood. I have watched Professor Byard’s magnum opus develop over a number of years, as I was an examiner for his doctoral thesis from which the first edition of his textbook evolved, and I now see the second edition to be a more extensive expansion of the original work. He can reasonably be considered as the most internationally respected specialist in the realm of sudden childhood death, and this new edition will consolidate his position further. The area of medicine in which he has chosen to work must be one of the most difficult of all, not only for its scientific and technical problems but also because it contains the interface between the highly emotive issue of death in childhood and the extremely controversial issue of child abuse. Recent years have thrown up trial after trial where fiercely fought legal battles in both criminal and civil courts have raged over allegations of child abuse and child killing. In some of these, the standard of medical evidence has left a great deal to be desired, and ignorance and prejudice have in a few instances undoubtedly led to scandalous miscarriages of justice. Although this book addresses an enormous range of medical conditions, there is no doubt that a substantial part of its utilization will be to clarify the controversies and disputes that exist over the relationship between sudden infant death syndrome (SIDS) and alleged suffocation and other forms of deliberate harm to children. Indeed, Professor Byard has

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Foreword

been involved so often in such issues that his original career as a mainstream pediatric pathologist has veered towards forensic pathology, and he is one of the few who have managed to successfully bestride both specialties. The content of this second edition is even more ambitious and comprehensive than the first. The author has extended his age range down to the moment of birth, deaths in the first week of life formerly being excluded. Young adult deaths are also considered, as there is no true temporal cut-off between some childhood conditions and those of early adulthood. Together with Stephen Cohle, another well-known expert in the field, the first part of the book deals with trauma. The tricky problem of the nomenclature and semantics of the various categories of injury is addressed at length. A major part of the work is then devoted to natural disease, generally dealt with in the conventional way by organ systems, though there are caveats about keeping in mind the frequency with which multisystem disorders occur. SIDS is then considered in great detail, with further warnings about distinguishing sudden death in infancy from SIDS, which too often are confused in the minds of many people. A marked feature of the

volume is the increase in both illustrations and references, the latter now virtually providing a total capture of all relevant papers on the subject matter of the book. At the end, there are a series of appendices relating to autopsy practice, with protocols and guidelines for a variety of situations, including SIDS, non-accidental injury, metabolic disorders, infective conditions, and possible poisoning. A foreword should not be repetitive of either the table of contents or the author’s preface, but should attempt to summarize the worth of the book to the medical and also, in this case, the legal communities. There can be no doubt that this second edition, even more than the previous one, is the current international benchmark in the subject – and it is likely to remain so against any potential competitors until the next edition. Some textbooks, like Gray’s Anatomy and Greenfield’s Neuropathology, sit monolithic and enduring in the annals of medicine – and in the turbulent and controversial waters of childhood deaths, Byard’s book remains a similar beacon for those who seek guidance.

Professor Bernard Knight, CBE Cardiff, UK

Preface

The second edition of this text comes at a time when there has been considerable focus by the legal and medical professions and the public on inflicted and non-inflicted injuries in infants and young children. At the same time, there have been substantial developments in the field of pediatric natural diseases, with the discovery of genetic mutations associated with a wide array of disorders. As many of these diseases and injuries may be identified for the first time at autopsy, there is a great need for accuracy in postmortem diagnosis, with appropriate tissue sampling and investigation. In an attempt to deal with this new information, sections of the text have been defined more clearly, with, for example, separation of sudden infant death syndrome (SIDS) from other conditions that have been grouped under the headings of unintentional trauma, intentional trauma, and natural disease. Much has occurred in the SIDS field over the past decade, with identification of many risk factors resulting in a marked reduction in incidence. However, despite continued research, it still represents a “diagnosis” in search of causal diseases due to its lack of specific pathological features and its heterogeneous etiology. New developments in the areas of non-intentional injury and homicide have also necessitated substantial revision and expansion of this chapter. Several high-profile trials have drawn attention to the complexities of inflicted pediatric trauma and the problems that may arise in attempting to clearly establish causes of death. Thus, the intentional injury chapter has added, or expanded, sections on head trauma, the biomechanics of injury,

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Preface

neonaticide, subtle and unusual trauma, death by starvation, and irresponsible testimony by medical experts. Additional new sections also deal with murder–suicides and suicide. Extensive referencing has been a deliberate feature of the text in an attempt to provide readers with access to substantial background information to allow them to find out more about individual conditions, many of which are seen rarely in everyday practice. This second edition has over 1200 new references and 300 additional figures. Despite the somewhat tarnished reputation of the “case report,” observational studies remain extremely useful in providing examples of unusual features of a disorder and in illustrating pathophysiological principles. Thus, wherever possible, case descriptions of particular conditions and diseases have been given. Debate has occurred in recent years concerning the use of terminology such as “accidental” compared with “non-intentional.” While there is no doubt that many injuries in children are both nonintentional and preventable, the term “accident” has not been dispensed with completely as it is one that is familiar to readers and is distinct from inflicted injury. The chapter on non-intentional injury has also been expanded to reflect more accurately the importance of non-inflicted trauma as a cause of death in childhood and adolescence, and to demonstrate again the significant role that pathology may play in injury prevention in the community. Deaths in the first week of life have been included in this edition, and the age range of cases has also been extended into the early twenties in several of the rarer entities, as there is often no difference in the susceptibility to, and manifestations of, disease in this age range compared with adolescence. On a more theoretical level, we are still no closer to understanding the pathophysiological basis of many

conditions, as it is now apparent that mechanisms and mutations causing disease may be as complex and varied as phenotype. Multiple mutations or diverse injuries may have similar manifestations, and the features that we use to diagnose a condition may be coincidental to lethal processes. Unfortunately, tissues and organs have only a relatively limited range of responses to a variety of environmental insults and mutations. Where does that leave us? On a positive note, it would seem that we are on the threshold of discovering mechanisms for many childhood conditions that will lead us to improve diagnoses and to develop screening tests and treatment regimes. Given the rarity of many of these conditions, thorough postmortems may be essential in identifying cases and enabling further studies to be undertaken. Pediatric forensic pathology represents a developing discipline that is attempting to apply established forensic techniques to pediatric cases. The step from pediatric hospital to forensic mortuary is not, however, an easy one – conditions are rare and often quite complex, autopsy findings are subtle, and diagnoses may have considerable ramifications beyond the confines of pathology departments. Although the significance of certain findings remains uncertain, this will not stop the need for opinions to be formulated, substantiated, and defended in that most public of forums, the courtroom. Despite these problems, it is hoped that this text may provide some background information and guidance to assist pathologists, clinicians, and lawyers who find themselves dealing with the sometimes uneasy and changing interface of law, pathology, and pediatrics.

Roger W. Byard Adelaide, Australia 2003

Preface to the first edition

Although there is a considerable body of literature on sudden adult death, there has been less interest in comprehensively classifying rare and diverse causes of sudden death in children. For example, publications dealing with sudden infant death tend to concentrate on sudden infant death syndrome (SIDS), and older children and adolescents are often included in the same series as adults. As well, some series have specifically excluded children who were hospitalized or under one year of age. This book represents an attempt to redress the perceived deficit in the literature by gathering together in a single text the range of diseases, malformations, and conditions that can cause sudden, and often unexpected, death in both infants and children. Due to the unique nature of the neonatal period, perinatal deaths have not been included, and the age range of cases is generally between one week and 19 years of age. It is our goal to provide a comprehensive, systemby-system review of a wide range of entities, including both “common” and more arcane disorders, along with illustrations of the conditions and backup references for further reading. More attention has been paid to some of the rarer conditions that are unique to childhood than to some of the more common conditions found at all ages, as these are described well in general texts. For example, idiopathic arterial calcinosis has deliberately been dealt with in much greater depth than bacterial pneumonia, although the latter is far more common. While the book has been divided into chapters based loosely on organ systems, a number of

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conditions may involve multiple systems. In these cases, the most detailed descriptions are to be found in the chapters that seem to deal best with the underlying pathological process that leads to sudden death. As well as a general text, this book is also intended for use as an autopsy manual for pathologists confronted with an infant or child who has died unexpectedly, by providing protocols and checklists to serve as reminders of more obscure disorders that may otherwise be overlooked in a busy autopsy room. Unfortunately, the number of disorders that may cause sudden death in childhood is quite vast, ranging from congenital abnormalities of early life to the acquired disorders of early adulthood. While we have attempted to cover as many conditions as

possible within the limitations of this short text, some will not have been included, due either to deliberate exclusion or to oversight on the authors’ part. As well, due to the professional background and experience of the authors, the text tends to be ethnocentric, with a concentration on diseases and conditions that are found predominantly in Western countries rather than in other areas of the world. We apologize for any omissions. Given these imperfections, we hope that the text will be of practical and theoretical use to physicians and students who are engaged in the practice and study of pediatric medicine and pathology.

RWB, Adelaide, Australia SDC, Grand Rapids, USA March 1994

Acknowledgments

I would like to acknowledge and thank pathologists and colleagues at the Forensic Science Centre and the Women’s and Children’s Hospital, Adelaide, specifically Dr Terry Donald, Dr Ross James, Dr John Gilbert, Dr Hilton Kobus, and Mr David Eitzen, for their continued and much appreciated support. Professor Peter Blumbergs, Dr Tony Bourne, Dr Terry Donald, Det. S/C Rick Fielder, Professor Yee Khong, Dr Jill Lipsett, Dr Lynette Moore, Dr Lloyd Morris, Dr Rebecca Scroop (Adelaide, Australia), Dr Joyce deJong ¨ uk ¨ unal ¨ (Grand Rapids, USA), and Professor Cenk Buy (Istanbul, Turkey) are also thanked for contributing photographs and artwork. The permission of Mr Wayne Chivell, South Australian State Coroner, to publish details of cases is also acknowledged gratefully, as is the help of his staff. Dr John Gilbert, Roland Hermanis and the South Australian Police (SAPOL) Physical Evidence and Photographic Sections are also thanked for photographic work. The extensive update in references was only possible due to the excellent work of Ms Bet Witton, Librarian, Department of Administrative and Information Services, Adelaide. Finally, this text would not have been possible without the continued support and untiring editorial and indexing work of Ms Ren´ee Amyot. Copyright owners are thanked for permission to use the following previously published photographs and materials: Figures 2.3 and 2.4 – Am. J. Forensic Med. c Pathol. 2002;23:45–7
2002, Lippincott Williams & Wilkins; Figures 2.5 and 2.51 – J. Clin. Forensic Med. c 2001;8:214–7
2001, Churchill Livingstone; Table 2.2, Figures 2.6, 2.7, 2.9, 2.23, 2.44, 2.58, 2.63, 2.69,

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and 2.74 – Perspect. Pediatr. Pathol. 2000;3:405–18 c
2000, Springer-Verlag GmbH & Co. KG; Figures 2.11 and 2.12 – Arch. Pathol. Lab. Med. 1992;116:654–6 c
1992, American Medical Association; Figure 2.24 – c Am. J. Forensic Med. Pathol. 2002;23:45–7
2002, Lippincott Williams & Wilkins; Figures 2.26, 2.31, 2.32, 2.35, 2.36, 2.37 and 2.42 – J. Clin. Forensic Med. c 2001;8:214-17
2001, Churchill Livingstone; Figure 2.29 – Am. J. Forensic Med. Pathol. 1993;14:296– c 302
1993, Lippincott Williams & Wilkins; Figure c 2.30 – J. Paediatr. Child Health 2000;36:66–8
2000, Blackwell Science Asia; Figure 2.38 – J. Paediatr. c Child Health 2001;37:201–2
2001, Blackwell Science Asia; Figure 2.39 – J. Paediatr. Child Health c 1997;33:171–3
1997, Blackwell Science Asia; Figure 2.41 – Am. J. Forensic Med. Pathol. 1995;16:177– c 80
1995, Lippincott Williams & Wilkins; Figure c 2.42 – Forensic Sci. Int. 1996;83:105–9
1996, Elsevier Science; Figures 2.48, 2.55, and 2.57 – J. Forensic Sci. 1996;41:438–41 Copyright ASTM International, reprinted with permission; Figure 2.54 – Pediatr. Pathol. 1990;10:837–41 – with permission; Figure 2.60 – Am. J. Forensic Med. Pathol. 1988;9:252–4 c
1988, Lippincott Williams & Wilkins; Figure 2–68 – c J. Paediatr. Child Health 2003;39:46–8
Blackwell Science Asia; Figures 2.70–2.73 – Am. J. Forensic Med. c Pathol. 1999;20:73–7
1999, Lippincott Williams & Wilkins; frontispiece, Chapter 3 – Pediatr. Surg. Int. 1991;6:401–6 – with permission; Figure 3.51 – J. Forensic Sci. 1995;40:212–18 Copyright ASTM International, reprinted with permission; Figure 3.65 – c Churchill J. Clin. Forensic Med. 2000;7:6–9
2000, Livingstone; Figure 3.70 – Am. J. Forensic Med. c Pathol. 2001;22:391–4
2001, Lippincott Williams & Wilkins; Figure 4.12 – Int. J. Pediatr. Otorhinolaryngol. c 1993;28;77–81
1993, Elsevier Science; Figure 4.17 – J. Forensic Sci. 2002;47:202–4 Copyright ASTM International, reprinted with permission; Figure 4.31 – Arch. Dis. Child 1991;66:155–6, with permission; c Figure 4.36 – Surg. Pathol. 1993;5:55–62
1993, Westminster publications; Figure 5.5 – Am. J. Cardiovasc. Pathol. 1990;3:333–6, with permission; Color c Plate 12 – Med. Sci. Law 1997:37;84–7
1997, British Academy of Forensic Sciences; Color Plate 12 – Pediatr. Surg. Int. 1992;7:464–7, with permission; Figures

6.7, 6.9, and 6.55 – Cardiovasc. Pathol. 1996;5:243–57 c
1996, Elsevier Science; Figures 6.13 and 6.15 – Arch. c Pathol. Lab. Med. 1991;115:770–73
1991, American Medical Association; Figures 6.19 and 6.20 – Pediatr. Pathol. 1992;12:231–6, with permission; Figure 6.22 – J. Forens. Sci. 1991;36:1234–9 – Copyright ASTM International, reprinted with permisc sion; Figure 6.26 – Pathology 2001;33:235–8
2001, Taylor & Francis, http://www.tandf.co.uk/journals; Figures 6.31 and 9.2, and Color Plate 28 – Med. c Sci. Law 1991;31:157–61
1991, British Academy of Forensic Sciences; Figure 6.34 – Forens Sci. c Int. 1991;51:197–202
1991, Elsevier Science; Figures 6.38 and 7.12 – Eur. J. Pediatr. 1991;150:224– c 7
1991, Springer-Verlag GmbH & Co. KG; Figure 6.40 – J. Forensic Sci. 2001;46:274–7 Copyright ASTM International, reprinted with permission; Figure 6.52 – Arch. Pathol. Lab. Med. 1990;114:142–4 c
1990, American Medical Association; Figure 6.49 – c Pediatr. Pathol. Lab. Med. 1995;15:333–40
1995, Taylor and Francis, http://www.tandf.co.uk/journals; Figure 6.56 – J. Forens. Sci. 1995;40:599–601 Copyright ASTM International, reprinted with permission; Figure 6.57 – Cardiovasc. Pathol. 2002;11:296– c 9
Elsevier Science; Figure 7.3 – Forensic Sci. c Int. 1994;66:117–27
1994, Elsevier Science; Figure 7.4a – Pediatr. Surg. Int. 1992;7:464–7 with permission; Figures 7.4b and 7.5 – J. Paediatr. Child Health c 1990;26:12–6
1990, Blackwell Science Asia; Figures 7.6 and 7.7 – Int. J. Pediatr. Otorhinolaryngol. c 1990;20:107–12
1990 Elsevier Science; Figures 7.8 and 7.10 – Am. J. Forensic Med. Pathol. 1996;17:255– c 9
1996, Lippincott Williams & Wilkins; Figures 8.6, 8.9–8.13, and 8.15 – Pediatr. Neurosci. 1991– 92;17:88–94 with permission; Figure 8.16 – J. Forens. Sci. 1993;38:210–303 Copyright ASTM International, reprinted with permission; Figures 8.20 and 8.21 – c Am. J. Forensic Med. Pathol. 1996;17:260–63
1996, Lippincott Williams & Wilkins; Figure 2.24 – Am. J. c Forensic Med. Pathol. 2001;22:207–10
2001, Lippincott Williams & Wilkins; Figure 8.23 and 8.24 J. Forens. Sci. 1991;36:1229–33 Copyright ASTM International, reprinted with permission; Figures 8.26–8.28 – J. Forens. Sci. 2001;46:913–15 Copyright ASTM International, reprinted with permission;

Acknowledgments

Figures 9.10–9.12 – J. Clin. Forensic Med. 2001;8:160– c 62
2001, Churchill Livingstone; Figures 10.8– c 10.10 –J. Clin. Forensic Med. 2001;8:81–5
2001, Churchill Livingstone; Figure 10–17 – Can. J. Gastroenterol. 1989;3:58–60 with permission; Figure c 10.21 – Pathology 1992;24:170–71
1992, Taylor and Francis, http://www.tandf.co.uk/journals; Figure 10.26 – Am. J. Forensic Med. Pathol. 2000;21:90–92 c
2000, Lippincott Williams & Wilkins; Figure 12.2 – Am. J. Clin. Pathol.1990;93:579–82 with permission

of the American Journal of Clinical Pathology; Figc ure 13.5 – J. Clin. Pathol. 1993;46;108–12
1993 BMJ Publishing Group; Figure 13.8 – Am. J. Clin. Nutr. 1994;60:189–94 Reproduced with permission by the c American Journal of Clinical Nutrition.
Am. J. Clin. Nutr.; American Society for Clinical Nutrition. Figure 13.11 – Am. J. Forensic Med. Pathol. 2000;21:311–14 c
2000, Lippincott Williams & Wilkins; Figure 13.26 – c Pediatr. Pathol. 1993;13:53–7
1993, Taylor & Francis, http://www.tandf.co.uk/journals.

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Part I Introduction

1 Sudden pediatric death: an overview

Introduction There have been considerable developments in our understanding of pediatric natural diseases, with many complex genetic links being discovered. More than 900 disease genes have been documented, each of which has from one to many hundreds of mutations. This now places considerable responsibility on pediatric and forensic pathologists to correctly identify diseases that may present as sudden and unexpected childhood deaths, as family screening and genetic counseling may be required (Dietz & Pyeritz, 1994; Goodwin, 1997; Gregersen, Andresen & Bross, 2000). The pathologist also has to continually evaluate non-inflicted and inflicted trauma, liaising with coroners, product safety experts, and community groups dealing with childhood injury prevention. Preventive pathology refers to this type of activity, with information being taken from the morgue back to the community for use in educational and intervention programs (Byard, 1999; Byard, 2000; Rivara, Grossman & Cummings, 1997a; Rivara, Grossman & Cummings, 1997b). Pathological evaluation of cases of sudden childhood death involves, therefore, considerably more than simple dissection and slide examination. A question that sometimes arises concerns the definition of terms such as “sudden” and “unexpected,” but as long as it is stated clearly how the words are being used then there really should not be any problems in terminology.

How sudden is “sudden?” The definition of sudden death is quite variable, with different authors setting limits of zero, one, six and 24 hours from the time of onset of symptoms and signs to the time of death. There has again been considerable flexibility in the inclusion of cases in this edition, both from the literature and from personal files, as too rigid an adherence to definitions is impractical and may result in the exclusion of important disease entities. However, generally victims have either been completely well or have been suffering from only an apparently minor illness. If they did have a major illness, then they had been thought to be stable. The common theme uniting all of these cases is that rapid deterioration occurred, culminating in death, although the unavoidable reliance on the presenting history to make this assessment does leave scope for inaccuracy. Quite often the children described in the text were found dead in bed, or suffered a cardiorespiratory arrest while they were engaged in usual activities.

How unexpected is “unexpected?’’ It can be argued that the term “unexpected” might not be appropriate to describe death in children who have diseases that are known to be lethal. If this philosophy is applied too rigidly, however, it would be impossible to call a death unexpected in any child suffering from a number of conditions such as Marfan syndrome, tetralogy of Fallot, sickle cell

3

4

Sudden Death in Infancy, Childhood and Adolescence

disease, aortic stenosis, myocarditis, and bronchopulmonary dysplasia, to name but a few. The only way to avoid the problems associated with this form of semantic tangle was to avoid the term “unexpected” and to concentrate instead on deaths that occurred suddenly. In this way, cases of sudden death due to fungal thromboemboli in immunocompromised leukemic patients, or due to massive intracranial hemorrhage in patients with brain tumors, could be discussed without having to go into an excessive analysis of whether the case was truly “unexpected.” The common feature of these cases is that death occurred before it was anticipated.

What constitutes being “well?’’ A child has been accepted as being well, or only mildly unwell, if neither the parents nor the attending physician felt that there was any evidence of serious disease of a type that would require immediate hospitalization or emergency treatment. This will not always be accurate, particularly in cases of parental neglect and in cases of inflicted injury.

Should conditions be described if sudden death has been reported only in adults, or if sudden death in childhood is only a theoretical possibility? If the clinicopathological features are otherwise similar in all age groups, then it appears reasonable to accept that these entities may be potential, albeit rare, causes of sudden pediatric death.

2 Infants and children who were considered to be mildly unwell and who presented in a similar manner to the first group. Examples include a variety of diverse infectious diseases, such as viral myocarditis, bacterial meningitis, and epiglottitis. A number of infants who succumb to SIDS would also be included in this group, as a history of low-grade fever, upper respiratory tract infection, and non-specific malaise is often elicited. This group also includes (a) children who had minor illnesses completely coincidental to the underlying lethal process, (b) infants who exhibited only relatively minor symptoms and signs of a serious disease, and (c) those in whom major symptoms and signs were either missed or deliberately ignored, as in cases of inflicted injury and neglect. On occasion there may be an additive effect of an acquired disease to a previously established abnormality with lethal consequences, for example an infant with an anomalous coronary artery circulation who decompensates when the added stress of anemia exacerbates myocardial hypoxia. 3 Children with a known serious but stable condition who suddenly die. Examples include children with asthma and epilepsy. Detailed tables in the following chapters list conditions that are associated with sudden death in the pediatric age group. Some of these conditions are unique to early childhood, usually causing death before the second decade is reached, while others are found more often in later adolescence. Examples of this age-related variability in mortality include certain congenital cardiovascular anomalies, which may manifest within the first few months of life, compared with sudden death in asthma, which tends to occur in later childhood.

Overview Cases fall into three broad groups: 1 Apparently completely well infants and children who suffered an unexpected cardiac arrest/ collapse and died within hours, or who were found dead in bed. Examples include certain types of congenital cardiac defects, cerebral hemorrhage, trauma, and sudden infant death syndrome (SIDS).

Frequency The incidence of pediatric sudden death is difficult to determine precisely, since there is variability from community to community, and from year to year in the same population (Denfield & Garson, 1990). In addition, death certificate diagnoses are known to be inaccurate, particularly in cases that do not come

Sudden pediatric death: an overview

to autopsy. It has been estimated that sudden natural death in the age range of 1–20 years ranges from 1.1 to 13.8 per 100,000 of the pediatric population per year (Denfield & Garson, 1990; Morentin et al., 2000), accounting for 2–5% of deaths in that group (Berger, Dhala & Friedberg, 1999; Driscoll & Edwards, 1985; Molander, 1982). As for trauma, a study from Melbourne, Australia, reported an overall mortality rate from injury in children aged from 0 to 14 years of 10.6 per 100,000 per year (Nolan & Penny, 1992). This compares with a lethal injury rate of 30.3 per 100,000 per year that has been quoted in the USA for the age range 0–19 years (Guyer & Gallagher, 1985). The sudden death rate is higher in boys than in girls (Gillette & Garson, 1992).

Causes of sudden death SIDS remains the most common cause of sudden and unexpected death in infancy (one week to one year of age) despite dramatic falls in rates over the past decade (Byard, 1991; Cˆot´e, Russo & Michaud, 1999). Over one year of age, the major causes of sudden natural death are malignancies, congenital anomalies, and infections (Corey Handy & Buchino, 1998; Denfield & Garson, 1990; Vetter, 1985). Infectious disorders that are most commonly associated with sudden pediatric death include myocarditis, meningitis, epiglottitis, bronchopneumonia, bronchiolitis, tracheobronchitis, septic shock, gastroenteritis, and peritonitis. Acute infections were responsible for the greatest number of deaths in a study of 207 sudden deaths in the age range 1–21 years, the median age of death being 4.3 years (Neuspiel & Kuller, 1985). Cardiovascular anomalies or diseases rank along with infections as major causes of sudden death in childhood, although the age of death tends to be older than for infections, the median age being 16.2 years in the study of Neuspiel & Kuller (1985). The usual cardiovascular disorders are hypertrophic cardiomyopathy, dilated cardiomyopathy, aortic stenosis, congenital coronary artery anomalies, tetralogy of Fallot, Ebstein anomaly, pulmonary

hypertension, mitral valve prolapse, conduction disturbances, and Eisenmenger syndrome (Klitzner, 1990). The relative percentages of these entities depend on the particular series. For example, while Topaz & Edwards (1985) found mitral valve prolapse to be equal in frequency to myocarditis (24%), with only 4% of cases having aortic stenosis, Lambert and colleagues (1974) found an incidence of 18% for aortic stenosis with only one case of “myxomatous” mitral valve disease. Sudden death following surgery in children with congenital heart defects, particularly tetralogy of Fallot and transposition of the great vessels, also accounts for a significant number of cases (Vetter, 1985). The most likely etiology for sudden death in young athletes or children engaged in strenuous physical activity is cardiovascular. For example, Maron and colleagues (1980) found a structural cardiovascular anomaly in 28 of 29 competitive athletes aged between 13 and 30 years who died suddenly. The most common abnormality in that series was hypertrophic cardiomyopathy (48%), contrasting with a similar study by Corrado and colleagues (1990), in which the most common abnormality found was right ventricular dysplasia (27%). Whether this variability in results reflects a difference in the populations studied, a difference in diagnostic practice, or a difference in the pattern of referral of autopsy cases for review is difficult to ascertain. Other “common” causes of sudden pediatric death include epilepsy, intracranial hemorrhage, and asthma (Kitada, Nakagawa & Yamaguchi, 1990; Neuspiel & Kuller, 1985; Norman, Taylor & Clarke, 1990). Less usual causes involve hematologic, gastrointestinal, genitourinary, metabolic, endocrine, genetic, and immunologic disorders. Use of the term “accident” has been discouraged in recent years by some clinicians as it is argued that most injuries are predictable and preventable (Davis & Pless, 2001). Certainly there is merit in this view, but not all injuries are preventable and most people have a clear concept of what is meant when the term “accident” is used. Additionally, standard categories for the manner of unnatural death in forensic terminology are homicide, suicide, accident, and

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Sudden Death in Infancy, Childhood and Adolescence

undetermined. For these reasons, the term “accidental death” has continued to be used in this edition until a comparable and generally accepted term has been devised. Deaths due to accidents (i.e. traumatic episodes arising from non-inflicted injury) in children are most often caused by traffic accidents and drowning; other causes of injury in the pediatric age range include burns, scalds, falls, poisoning, choking, and non-accidental trauma (Nolan & Penny, 1992; Norton, 1983). The percentage of cases of sudden death in childhood that remain unexplained even after an autopsy has been conducted will vary greatly depending on the rigor with which the postmortem examination has been conducted and the significance that is subsequently attached to the findings. The cases that are left serve to highlight the inadequacy of investigations into childhood death and the insensitivity of standard pathological techniques in ascertaining the cause of certain pediatric fatalities.

Davis, R. M. & Pless, B. (2001). BMJ bans “accidents”. British Medical Journal, 322, 1320–21. Denfield, S. W. & Garson, A., Jr (1990). Sudden death in children and young adults. Pediatric Clinics of North America, 37, 215–31. Dietz, H. C. & Pyeritz, R. E. (1994). Molecular biology – to the heart of the matter. New England Journal of Medicine, 330, 930–32. Driscoll, D. J. & Edwards, W. D. (1985). Sudden unexpected death in children and adolescents. Journal of the American College of Cardiology, 5, 118–21B. Gillette, P. C. & Garson, A., Jr. (1992). Sudden cardiac death in the pediatric population. Circulation, 85, I64–9. Goodwin, J. F. (1997). Sudden cardiac death in the young. A family history of sudden death needs investigation. British Medical Journal, 314, 843. Gregersen, N., Andresen, B. S. & Bross, P. (2000). Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. European Journal of Pediatrics, 159 (Suppl 3), S213–18. Guyer, B. & Gallagher, S. S. (1985). An approach to the epidemiology of childhood injuries. Pediatric Clinics of North America, 32, 5–15. Kitada, M., Nakagawa, T. & Yamaguchi, Y. (1990). A survey of sudden death among school children in Osaka prefecture. Japanese Circulation Journal, 54, 401–11.

REFERENCES

Klitzner, T. S. (1990). Sudden cardiac death in children. Circula-

Berger, S., Dhala, A. & Friedberg, D. Z. (1999). Sudden cardiac

Lambert, E. C., Menon, V. A., Wagner, H. R. & Vlad, P. (1974).

death in infants, children, and adolescents. Pediatric Clinics

Sudden unexpected death from cardiovascular disease in chil-

of North America, 46, 221–34.

dren. A cooperative international study. American Journal of

tion, 82, 629–32.

Byard, R. W. (1991). Possible mechanisms responsible for the sudden infant death syndrome. Journal of Paediatrics and Child Health, 27, 147–57. Byard, R. W. (1999). Preventative pathology and childhood injury. Injury Prevention, 5, 292–3. Byard, R. W. (2000). Accidental childhood death and the role of the pathologist. Pediatric and Developmental Pathology, 3, 405–18.

Cardiology, 34, 89–96. Maron, B. J., Roberts, W. C., McAllister, H. A., Rosing, D. R. & Epstein, S. E. (1980). Sudden death in young athletes. Circulation, 62, 218–29. Molander, N. (1982). Sudden natural death in later childhood and adolescence. Archives of Disease in Childhood, 57, 572–6. Morentin, B., Aguilera, B., Garamendi, P. M. & Suarez-Mier, M. P.

Corey Handy, T. & Buchino, J. J. (1998). Sudden natural death in

(2000). Sudden unexpected non-violent death between 1 and

infants and young children. Clinics in Laboratory Medicine,

19 years in north Spain. Archives of Disease in Childhood, 82,

18, 323–38.

456–61.

Corrado, D., Thiene, G., Nava, A., Rossi, L. & Pennelli, N. (1990).

Neuspiel, D. R. & Kuller, L. H. (1985). Sudden and unexpected

Sudden death in young competitive athletes: clinicopatho-

natural death in childhood and adolescence. Journal of the

logic correlations in 22 cases. American Journal of Medicine, 89, 588–96. Cˆot´e, A., Russo, P. & Michaud, J. (1999). Sudden unexpected

American Medical Association, 254, 1321–5. Nolan, T. & Penny, M. (1992). Epidemiology of non-intentional injuries in an Australian urban region: results from injury

deaths in infancy: what are the causes? Journal of Pediatrics,

surveillance. Journal of Paediatrics and Child Health, 28,

135, 437–43.

27–35.

Sudden pediatric death: an overview

Norman, M. G., Taylor, G. P. & Clarke, L. A. (1990). Sudden, un-

Rivara, F. P., Grossman, D. C. & Cummings, P. (1997b). Injury

expected, natural death in childhood, Pediatric Pathology, 10,

prevention. Second of two parts. New England Journal of

769–84. Norton, L. E. (1983). Child abuse. Clinics in Laboratory Medicine, 3, 321–42. Rivara, F. P., Grossman, D. C. & Cummings, P. (1997a). Injury prevention. First of two parts. New England Journal of Medicine, 337, 543–8.

Medicine, 337, 613–18. Topaz, O. & Edwards, J. E. (1985). Pathologic features of sudden death in children, adolescents, and young adults. Chest, 87, 476–82. Vetter, V. L. (1985). Sudden death in infants, children, and adolescents. Cardiovascular Clinics, 75, 301–13.

7

Part II Unintentional trauma

Gin Alley, a nineteenth-century etching by Hogarth, which demonstrates vividly the dangers to infants from trauma associated with poverty and poor living conditions.

2 Accidents with Stephen D. Cohle Forensic Pathologist, Spectrum Health, Grand Rapids, Michigan, USA

Introduction Accidents account for nearly half of all deaths of individuals aged from one to 24 years old in the USA – 25,814 of 54,239 in 1987 (Accident Facts, 1990). Accidents cause only 3% of deaths in infants less than one year of age, but cause 71% of deaths in those aged 15–19 years. At all ages motor vehicle crashes account for a significant percentage of non-intentional deaths (Johnston, Rivara & Soderberg, 1994), from 23% in infants under one year to 80% of deaths in the 15–19-year group. These results are summarized in Table 2.1. Generally, the term “adolescence” refers to the 13–19-year-old age group and “young adulthood” after this. In the Accident Facts survey, suffocation was the second leading cause of death in infants under one year of age. In older age groups, drowning was next to motor vehicle accidents (MVAs). Firearm deaths were the third major cause of accidental deaths in 15–19-year-olds in the USA. About half of drownings and motor vehicle-related deaths involve alcohol (Rosenberg, Rodriguez & Chorba, 1990). Injury mortality for those aged between one and 19 years from 1984 to 1986 in the USA exceeded that of other countries, with an overall mortality rate of 30.5/100,000 of the population, compared with 26.1/100,000 for Canada, 22.3 for Norway, 21.5 for France, 15.6 for England and Wales, and 13.1 for the Netherlands (Williams & Kotch, 1990). In Australia more recent data on accidental death show a mortality rate of 10.8/100,000 for children under four years, 5.3/100,000 in five- to nine-year-olds, 6.4/100,000

in 10–14-year-olds, and 29.2 in 15–24-year-olds (National Injury Surveillance Unit, 1995). Again, drowning and motor vehicle deaths account for the majority (65%) of cases (Pitt, Balanda & Nixon, 1994). In North Carolina Runyan and colleagues (1985) found fires and burns to be the leading cause of death due to non-inflicted injuries in the under four years age group, followed by motor vehicle accidents, pedestrian injuries, suffocation, and drowning. In the 15–19 years age group, motor vehicle fatalities and drowning were the major causes of death, with suicides and homicides also accounting for many deaths in that age group. Of 267 children with lifethreatening injuries treated at a regional trauma center, 55% were injured in motor vehicle accidents, 27% were hurt in falls, 10% were due to sports and other injuries, and 8% were assault victims. In 75% of the motor vehicle accidents, the child was a pedestrian. Fifty one percent of those injured had involvement of one organ system, 29% two organ systems, and 20% three or more organ systems. Fourteen of the 17 deaths resulted from head injury, primarily accounting for the mortality of 6.7% (Colombani et al., 1985). In Peclet and colleagues’ study (1990) of 3472 children up to 14 years of age admitted to an urban trauma center, traffic-related injuries accounted for 29% of all patients. School-age children (5–10 years) tended to have falls and traffic-related injuries. Child abuse, drowning, and penetrating injuries accounted for 5% of all injuries but 40% of all deaths. Seventy five percent of the deaths in this study involved head injury.

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Sudden Death in Infancy, Childhood and Adolescence

Table 2.1. Types of accidental deaths by age (percentages) (derived from Accident Facts, 1990) Age (years)