Cardiac rhabdomyoma presenting as sudden infant death syndrome

A case of cardiac rhabdomyoma presenting as sudden infant death in a four-and-one-half month-old infant is reported. The child was the product of an essentially uncomplicated pregnancy and enjoyed good health before his unexpected, sudden death. Autopsy examination revealed the presence of multiple cardiac lesions which histologically were diagnosed as rhabdomyomas. Death was attributed to fatal cardiac arrhythmia caused by the tumor. To the authors' knowledge this represents the first reported case in the forensic science literature of death as a result of cardiac rhabdomyoma presenting as sudden infant death syndrome (SIDS).     

Pathology of sudden infant death syndrome

This study is based on 15 cases examined by the author. The majority of the infants were found in a prone position. Thymus was enlarged in all cases. Its enlargement of the lower portion overlying the basal portion of the heart formed an unyielding, tense membrane. In prone position, the heavy ventricles fell forward, producing angulation and kinking against this membrane and inhibited the filling of the heart or irritated the heart, producing arrhythmia and cardiac arrest.     

婴儿猝死综合征的研究现状及其法医学检验

婴儿猝死综合征(dudden infant death s yndrome,SIDS)一直是法医学和儿科学领域的研究热点。相对于北美、欧洲、澳洲以及日本等地对SIDS广泛深入的研究,来自中国的报道相对较少。本文通过总结文献,介绍SIDS的发展历史、研究现状和新的发展趋势,并结合2004年各国学者在美国圣地亚哥公布的SIDS分型,讨论实际检案中需注意的问题以及推进其调查研究的可行性。     

Melatonin concentrations in the sudden infant death syndrome

To examine a possible relationship between pineal function and the sudden infant death syndrome (SIDS), samples of whole blood, ventricular cerebrospinal fluid (CSF) and/or vitreous humor (VH) were obtained at autopsy from 68 infants (45 male, 23 female) whose deaths were attributed to either SIDS (n = 32, 0.5-5.0 months of age; mean +/- S.E.M., 2.6 +/- 0.2 months) or other causes (non-SIDS, n = 36, 0.3-8.0 months of age 4.3 +/- 0.3 months). The melatonin concentrations were measured by radioimmunoassay. A significant correlation was observed for melatonin levels in different body fluids from the same individual. After adjusting for age differences, CSF melatonin levels were significantly lower among the SIDS infants (91 +/- 29 pmol/l; n = 32) than among those dying of other causes (180 +/- 27; n = 35, P less than 0.05). A similar, but non-significant trend was also noted in blood (97 +/- 23, n = 30 vs. 144 +/- 22 pmol/l, n = 33) and vitreous humor (68 +/- 21, n = 10 vs. 81 +/- 17 pmol/l, n = 15). These differences do not appear to be explainable in terms of the interval between death and autopsy, gender, premortem infection or therapeutic measures instituted prior to death. Diminished melatonin production may be characteristic of SIDS and could represent an impairment in the maturation of physiologic circadian organization.     

Nonnatural death masquerading as SIDS (sudden infant death syndrome)

This article relates our experiences with accidental and homicidal deaths in reported sudden infant death syndrome (SIDS) cases. Our intent is to alert personnel in medical and health-related professions as well as death investigators (coroners, law enforcement officials, etc.) that a thorough scene investigation and history need to be obtained when a child's death has been reported, since this may modify the type of autopsy to be performed. It should not be assumed that all children less than 1 year of age who die suddenly die from SIDS.     

Acallosal brain in sudden infant death syndrome (SIDS).

A definitive explanation of "crib" or "cot" death remains unknown. An unusual incidental autopsy finding of agenesis of the corpus callosum in a case presenting as "near miss" sudden infant death syndrome (SIDS) is discussed. Hitherto, only a single case associated with SIDS has been reported in the literature. The condition may be easily missed outside the interest in neuropathology.     

婴幼儿猝死综合征神经病理学的研究进展

婴幼儿猝死综合征(SIDS)是指发生于1岁以内婴儿无明显病因的突然死亡,其死亡原因及鉴别诊断标准迄今仍不明确。本文参考了近年来采用免疫组化方法对SIDS神经系统病理变化的研究文献,提出SIDS致命的病理生理机制是与睡眠相关的呼吸循环失控或衰竭,即SIDS的主要病因存在于中枢神经系统,但不是单一病因。     

Desquamative interstitial pneumonia in an infant. Mimicry of sudden infant death syndrome

A 15-week-old infant girl, without a prior history of overt illness, was found dead while sleeping between her two parents. The gross examination at autopsy showed only congested lungs, and the initial diagnosis was sudden infant death (SID). On microscopic examination, a desquamative interstitial pneumonia (DIP) was observed. The widespread, patchy intraalveolar histiocytic desquamation was associated with lymphocytic infiltration of bronchiolar and aveolar walls, which together provided convincing evidence that an interstitial pneumonitis was the cause of death. A viral etiology seems most likely in view of the accompanying chronic inflammation of bronchial submucosal glands.     

Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(?) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype.     

The fallacy of the simultaneous sudden infant death syndrome in twins

The likelihood of twin infants dying suddenly and simultaneously of SIDS, a natural disorder, defies credibility. However, injuries associated with environmental hazards provide possible mechanisms of sudden death. A search for hazards in the homes of 13 pairs of healthy twins who died together of no apparent cause formed the basis of this study. Ten of the 13 sets were certified by medical examiners as simultaneous twin SIDS. The findings in this study suggest that all 13 sets died from injuries, either unintentional or otherwise, and that these deaths could have been prevented.     

Increase of pulmonary density of macrophages in sudden infant death syndrome

A 1996 cytodensitometric study found increased cellular density in the pulmonary parenchyma of infants who died of sudden infant death syndrome (SIDS). The present study clarifies these results in quantifying the density of immunohistochemical subtyped inflammatory cells. Histomorphometry was used to compare the density of macrophages, granulocytes and T and B lymphocytes in the lungs of two groups of infants. From the post-mortem records of infant deaths between 1983 and 1995, 29 (mean age = 5 months) were randomly selected including 16 cases of SIDS and 13 who died of other non-pulmonary causes. Densities of immunoreactive cells were measured under blind conditions in the parenchyma. The mean density of macrophages was significantly higher in cases of SIDS compared with the controls (P = 0.0318), but there were no differences for the lymphocytes and the granulocytes. These morphometrical results must be interpreted within the methodological limits of this study, especially the non-uniform level of lung inflation between selected subjects. However, the differences in level of inflation are not sufficient to explain the observed increase of macrophage density. Indeed, the mean values of alveolar surface area, which represent an indirect measure of lung inflation, are not significantly different between the two groups. Increase of pulmonary macrophage density in SIDS agrees with three non-exclusive hypotheses: (1) an abnormal inflammatory reaction by expression of Th1 helper cell phenotype activation; (2) consequence of passive smoking; and (3) post-agonal mechanisms. Bacterial superantigens produced by toxigenic bacteria in the respiratory tract could play a role as a trigger factor that initiates a fatal cascade with overproduction of cytokines leading to death. The significant increase of pulmonary macrophage density would be the morphological expression of this potential mechanism of death.     

Simultaneous sudden infant death syndrome: a case report.

The first reported case of simultaneous sudden infant death syndrome (SSIDS) in Allegheny County, Pennsylvania, occurred on February 27, 1998. Two-month-old black fraternal twin girls were both found dead in their crib at the same time. After an in-depth death scene investigation, police investigation, toxicologic analysis, and complete autopsies, a specific cause of death could not be identified. The deaths of the two girls were therefore ruled simultaneous sudden infant death syndrome.     

Homicide as a cause of the sudden infant death syndrome

The homicidal asphyxiation of a 10 1/2-month-old male infant and the attempted asphyxiation of his 4-month-old sibling, documented by parental confession, is presented as evidence that murder may sometimes be mistaken as sudden infant death syndrome (SIDS). A review of the literature of the relationship between murder and SIDS deaths reveals the suspicions of some physicians but few published cases; this reflects not only the difficulties of making a determination of murder by suffocation, since no injuries may be present, but also a lack of awareness among physicians who must evaluate infant deaths. It is recommended that murder should be considered in the differential diagnosis of sudden, unexpected death in infants and that the autopsy should include full-body x-rays and at least an initial look at the social history of the child.     

Toxicology and sudden infant death

One hundred thirty cases of sudden infant death occurring in Wayne County, Michigan, (population 2.7 million) were analyzed for possible drugs. The toxicological protocol has been outlined. Six cases were found to be positive, and in five of these the drugs found had been prescribed for a variety of illnesses. In one case methadone was found in the blood of an infant whose mother was undergoing methadone treatment for drug addiction, the drug being transmitted through breast milk. In none of the 102 cases of sudden infant death syndrome (SIDS) included in the study did the toxicological results affect the diagnosis. In our study, toxicological analyses never contradicted an initial diagnosis of SIDS, and, therefore, we feel that this diagnosis should be made promptly based on investigative and autopsy findings.     

Serum tryptase levels in sudden infant death syndrome in forensic autopsy cases

An elevated serum tryptase concentration is considered to be a specific marker for systemic mast-cell activation, a central feature of anaphylaxis, which has been observed in some cases of sudden infant death syndrome (SIDS). However, it is still unclear whether anaphylaxis is involved in the etiology for SIDS. In the present study, we measured serum tryptase levels in 21 infants with SIDS, and 14 control infants from forensic autopsy cases by Uni-CAP TRYPTASE Fluoroenzyme immunoassay system, which detects both alpha- and beta-tryptase. The assay did not show any significant elevation of tryptase levels in the SIDS group compared with controls. Additionally, increased concentrations of tryptase were not observed in any SIDS case. Our results indicated that anaphylaxis does not seem to be involved in the etiology of SIDS.     

A comparison of respiratory symptoms and inflammation in sudden infant death syndrome and in accidental or inflicted infant death

Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.     

Intrathoracic and subconjunctival petechiae in sudden infant death syndrome (SIDS)

The frequency and density of intrathoracic and subconjunctival petechiae was studied in 250 cases of SIDS and 69 controls. The control group included 37 infants with natural and 32 infants with traumatic causes of death. Intrathoracic petechiae were found significantly more frequently in the SIDS group (91.2% SIDS; 42% controls; p < 0.001) and were present at a higher density (p < 0.001). Subepicardial and thymic petechiae were detected at high density in older SIDS infants. Subconjunctival petechiae were low in density and found only in 2.4% of the SIDS group but they were detected in 8.1% of the natural death group and 21.9% (p < 0.05) of the lethal trauma group. Subconjunctival petechiae were found at highest density in strangulation. Intrathoracic petechiae are commonly found in SIDS but are not specific for SIDS. Subconjunctival petechiae are typical but not specific for strangulation. In SIDS, subconjunctival petechiae are rare and appear at low density.     

Cytomegalic inclusion disease of the salivary glands in sudden infant death syndrome

The parotid gland and/or the submandibular gland in SIDS cases (180 from Berlin und 75 cases from Hamburg) were examined by means of HE staining, immunohistochemical analysis, in situ hybridization and electron microscopy. The SIDS cases were taken from the last 10 years; the age of the children ranged from 2 weeks to 1 year. Typical cytomegaly inclusion bodies were recognized in 10% (18 cases from Berlin; more girls than boys) and 7% (6 cases from Hamburg; more boys than girls). Our files indicate that the frequency of CMV infection was not age-dependent within the first 12 months of life. Using immunohistochemical analysis and in situ hybridization, virus substances were detected in cytomegal cells as well as in morphologically uninfected cells. The literature on the clinical and epidemiological aspects of cytomegaly indicates that a localized CMV infection of the salivary glands does not sufficiently explain the sudden death of these infants; however, it should be emphasized that cytomegaly can influence the immunological status of the organism.