Rickets or abuse? A histologic comparison of rickets and child abuse-related fractures.

PURPOSE: The bone changes of vitamin D deficiency rickets have been invoked as an alternate explanation for child-abuse related fractures identified through medical imaging. The lack of modern histopathologic comparisons between these two entities limits the abilities of the forensic pathologist to address this differential diagnosis, both in their autopsy reports and on the witness stand. METHODS: We report a comparison of the histologic appearance of the bones in a two year old child with vitamin D deficiency rickets with fractures occurring in three young children with child abuse. RESULTS: In the case of rickets, there was marked architectural disorganization of endochondral ossification at the costochondral junctions and growth plates of long bones. The child abuse-related fractures showed osteochondral callus at different stages of healing, either centered on a discrete fracture line or at metaphyses (e.g. classical metaphyseal lesions). In many instances, the healing fractures disrupted the line of endochondral ossification. In none of the child abuse-related fractures was there any similarity to the histologic appearance of rickets. CONCLUSION: The maturation disturbance in the growth plate that occurs in rickets is a distinctive entity that cannot be confused histologically with healing fractures, including the classical metaphyseal lesion.

Postmortem survey of haemoglobin A1c, non-alcoholic steatohepatitis and liver fibrosis within a general population.

AIMS: Non-alcoholic steatohepatitis (NASH), fatty liver disease and fibrosis are associated with diabetes mellitus and obesity. Previous autopsy series have reported prevalence of fatty liver disease to be 11%-24%. Recent studies, using imaging and serology, suggest a prevalence of 20%-35%, NASH of 5% and advanced fibrosis of 2%-3%. We examined the prevalence of NASH and liver fibrosis in a general autopsy population. METHODS: A cross-sectional study of consecutive, adult, medicolegal autopsies over a 1-year period was conducted. Liver sections were scored for fibrosis, inflammation and steatosis using a modified NASH scoring system. Stepwise logistic regression was used to identify associations between NASH or moderate/severe fibrosis and several clinicopathological parameters, including postmortem haemoglobin A1c (HbA1c). RESULTS: Of 376 cases, 86 (22.9%) were classified as NASH. Prevalence of diabetes mellitus, body mass index (BMI) and postmortem HbA1c were significantly higher in NASH cases (39.5%, 32.3 kg/m2 and 6.88%) than non-NASH cases (12.1%, 27.0 kg/m2 and 5.73%). Decedents with moderate/severe fibrosis (6.9%) had higher prevalence of diabetes, BMI and HbA1c (50%, 31.4 kg/m2 and 6.7%) compared with those with no/mild fibrosis (16%, 28 kg/m2 and 5.9%). HbA1c ≥7% was found to be an independent predictor of NASH (OR 5.11, 95% CI 2.61 to 9.98) and advanced fibrosis (OR 3.94, 95% CI 1.63 to 9.53). CONCLUSIONS: NASH and advanced fibrosis were higher in our general adult autopsy population compared with previously published estimates. This is a large series with histological evaluation showing that HbA1c >7.0% is independently associated with NASH and advanced fibrosis.

Histologic Changes In Recreational Drug Misuse.

Use of recreational drugs is associated with a number of histologic changes. These may be related to the method of administration or due to systemic effects of the drugs. This paper reviews the histopathological features seen following recreational drug use. With injection, there may be local effects from abscess formation and systemic effects may result in amyloidosis. Injections have been associated with necrotizing fasciitis, anthrax, and clostridial infections. Systemic effects include infective endocarditis, with the risk of embolization, and abscesses may be seen in organs in the absence of infective endocarditis. Viral complications of injection include hepatitis and human immunodeficiency virus (HIV) infection. Injecting crushed tablets can result in intravascular granulomata in the lungs. Smoking drugs is associated with intraalveolar changes, including blackand brown-pigmented macrophages in crack cocaine and cannabis smoking, respectively. Snorting may result in intraalveolar granulomata forming when crush tablets are used and there may be systemic granulomata. Stimulants are associated with cardiovascular and cerebrovascular pathology, including contraction band necrosis and myocardial fibrosis, as well as coronary artery dissection. Stimulants may cause hyperpyrexia and rhabdomyolysis, which may be associated with changes in multiple organs including myoglobin casts in the kidney. Opioids cause respiratory depression and this can be associated with inhalational pneumonia and hypoxia in other organs if there is resuscitation and a period of survival. Ketamine use has been associated with changes in the urothelium and the liver. This paper reviews histology changes that may be seen in drug-related deaths using illustrative cases.

Ten Percent of SIDS Cases are Murder - or are They?

Sudden infant death syndrome (SIDS) has been used as a cause of death for over four decades. It has allowed deaths of infants to be registered as natural. Within this group of deaths, a certain number have been recognized to be homicides from inflicted smothering rather than being natural or accidental deaths. Research has been conducted using confidential inquires to determine how frequent homicide is in cases called SIDS. This paper traces the history of quoted rates of homicide. Early work suggested the figure was between 2-10% of all SIDS cases, though other workers have suggested figures as high as 20-40%. With the fall in the rate of infant deaths following the "Back to Sleep" campaigns, these figures have been reevaluated. If the higher figures were correct that 20-40% of SIDS were homicides, the fall in infant deaths would be expected to be less than it has been. Current data suggests a much lower figure than 10% of current cases, with much lower overall rates of infant deaths. As well as 10% of SIDS cases having been stated to be homicides, a related question is whether multiple deaths classified as SIDS are really homicides. The paper discusses the maxim that one death is a tragedy, two is suspicious, and three deaths indicate homicide. The paper also looks at court cases and the approach that has been made in prosecutions of sudden unexpected death in infancy as multiple murder.

Are There Hallmarks of Child Abuse? I. Osseous Injuries.

Fractures are commonly found in cases regarded as child abuse. The most commonly encountered fractures are to the ribs and the metaphyses. This paper examines the specificity of the classical metaphyseal lesion (CML) and rib fractures as hallmarks of child abuse. Recently, vitamin D deficiency (rickets) has been proposed as an alternative cause for the appearances typically described in CML. The literature in this area is examined. Rib fractures have also been highly associated with child abuse, particularly posterior rib fractures. As well as metabolic bone disease, resuscitation has been examined as a cause of rib fractures in young children. The current literature remains strongly supportive of rib fractures and metaphyseal fractures being indicators of child abuse.

Are There Hallmarks of Child Abuse? II. Non-Osseous Injuries.

Certain conditions have been considered hallmarks of child abuse. Such pathognomonic conditions have led to an inevitable diagnosis of inflicted injury. Forensic pathologists are faced with complex analyses and decisions related to what is and what is not child abuse. In this review, we examine the literature on the specificity of five conditions that have been linked to inflicted injury to varying degrees of certainty. The conditions examined include tears of the labial frena (frenula), cigarette burns, pulmonary hemorrhage and intraalveolar hemosiderin-laden macrophages as markers of upper airway obstruction, intraabdominal injuries, and anogenital injuries and postmortem changes. Analysis of the literature indicates that frena tears are not uniquely an inflicted injury. Cigarette burns are highly indicative of child abuse, though isolated cigarette burns may be accidental. Pulmonary hemorrhage is seen more commonly in cases with a history suggestive of upper airway obstruction, but is not diagnostic in an individual case. Hemosiderin-laden macrophages may be seen in cases with inflicted injuries and in natural deaths. Abdominal injuries may be seen in accidents and from resuscitation, though panreatico-duodenal complex injuries in children under five years of age are not reported to be seen in falls or resuscitation. The understanding of anogenital injuries is increasing, but misunderstanding of postmortem changes has led to miscarriages of justice.

Forensic Investigation of Methadone Concentrations in Deceased Breastfed Infants.

There is a paucity of data to aid in assessing whether postmortem methadone findings in breastfed infants are clinically and/or toxicologically significant. Two cases are reported in which methadone was detected in deceased neonates whose mothers were enrolled in methadone maintenance programs and were breastfeeding. In addition to a complete autopsy and toxicological testing for alcohol, prescription medications, and drugs of abuse, pharmacogenetic analysis was performed for variants in genes related to methadone metabolism and response. In both cases, the postmortem methadone concentration measured in neonatal heart blood was higher than the maximum serum methadone concentration reported in living breastfed infants whose mothers were receiving methadone. However, additional analysis of antemortem blood indicated postmortem redistribution of methadone. Pharmacogenetic results were suggestive of a potential predisposition to methadone toxicity based on studies in adults; the significance of these findings in breastfed neonates requires further research. The medical cause of death was unascertained in both cases.

Mechanical heart valve prostheses: identification and evaluation (erratum).

Mechanical heart value prostheses have been in use since the 1950s. Many prostheses have been used for a while and then discontinued. Today, there are a large number and variety of prostheses in use and an even larger variety that are in place in patients. These may be explanted at any time for a number of reasons. It is essential for the practicing pathologist to be able to identify the prosthesis and be aware of some of its reported complications and modes of failure. This article, and a second one on bioprosthetic heart valves, is designed as a ready reference guide to heart valve prostheses, their important identifying features, their common complications, and modes of failure. It should help in the accurate identification of explanted prosthetic valves and more definitive reports. This accuracy of identification as well as tracking of abnormalities noted will, we hope, permit the identification of new failure modes and the recording of causes of failure of new (or even modified) prosthetic heart valves.

Undiagnosed heart disease leading to sudden unexpected death in childhood: a retrospective study.

OBJECTIVES: Heart disease accounts for a significant proportion of sudden unexpected deaths among children. We describe here demographic features, pathological conditions, and the frequency of premonitory symptoms in a retrospective series of cases of sudden unexpected cardiac death (SUCD) attributable to undiagnosed structural heart disease. METHODS: A chart review of autopsies involving children 0 to 17 years of age that were performed at the Hospital for Sick Children (Toronto, Ontario, Canada) between 1984 and 2003 was conducted. Cases of sudden unexpected death within 24 hours after clinical presentation with previously undetected fatal heart disease were included. Cases with multiple or thoracic trauma and chronic or multisystem disease were excluded. RESULTS: During the 20-year study period, 4926 autopsies were performed. A total of 103 cases (2.1%), involving 51 male patients and 52 female patients 1 day to 15 years of age (mean: 2.9 ± 4.2 years), were diagnosed as having SUCD. The most common diagnoses were myocarditis (n = 37 [35.9%]), hypoplastic left heart syndrome (HLHS) (n = 19 [18.4%]), dilated cardiomyopathy (DCM) (n = 16 [16.5%]), coronary artery anomalies (n = 6 [5.8%]), and aortic stenosis (n = 5 [4.9%]). There was a significant difference in the mean age of presentation between leading causes of SUCD (6.5 days for HLHS, 1.7 years for DCM, and 5.4 years for myocarditis; P < .0001). Of 103 cases, 27 (26.2%) had premonitory symptoms documented. CONCLUSION: SUCD accounted for 2.1% of all autopsies, and HLHS, DCM, and myocarditis were the 3 most common diagnoses, which presented at increasing ages.

Sickle cell trait mimicking multiple inflicted injuries in a 5-year-old boy.

Sickle cell disease (SCD) and sickle cell trait (SCT) can be associated with sudden unexpected death in the pediatric population, usually due to pulmonary complications occurring within the acute chest syndrome (ACS). Musculoskeletal complications can occur and are classically limited to bone infarcts. The occurrence of bone pathology centered upon the epiphyseal growth plate in SCD/SCT is extremely rare, and multiple such injuries in a single patient have not been previously reported. Herein, we describe a case of sudden unexpected death in a 5-year-old child with undiagnosed SCT due to the ACS, with widespread epiphyseal and periosteal bone lesions mimicking multiple inflicted injuries at autopsy. This case highlights the importance of clinicopathological correlation and is the first to describe SCT pathology as a mimic of nonaccidental injury.

An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.

A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a lysosomal storage disease within the liver and cardiac muscle. Enzyme assays for beta-galactosidase, neuraminidase, alpha-l-iduronidase, beta-glucuronidase, beta-glucosidase, Morquio disease type A enzyme, beta-fucosidase, alpha-mannosidase, and beta-mannosidase were all normal, ruling out many of the common storage diseases. Electron microscopy identified vacuoles within hepatocytes, Kupffer cells, and cardiac myocytes resembling the autophagic vacuoles characteristic of a group of diseases known as the autophagic vacuolar myopathies (AVMs). Because these diseases are exceptionally rare in females, and because such autophagic vacuoles have never before been described in liver, we propose a novel entity of "AVM-like lysosomal storage disease" presenting as nonimmune hydrops in a female fetus.