婴儿猝死综合征的法医学鉴定

近20多年来,婴儿猝死综合征（sudden infant death syndrome,SIDS）一直是西方发达国家医学界尤其是法医学和儿科学领域研究的热点。目前,随着对SIDS广泛而深入的研究,对其病因、发病特点、危险因素以及致病机制等都有了更明确的认识。虽说近年来SIDS的发病率已有明显下降,在欧美洲、澳洲等发达国家,SIDS仍然是导致1个月到1岁婴儿死亡的首要原因。在亚洲国家和地区,尤其是发展中国家SIDS的报道很少见。本文通过总结文献并结合美国马里兰州近20年（1990—2006）来对SIDS的调查研究资料,介绍SIDS的发展历史、研究现状和新的发展趋势,并对SIDS法医学鉴定程序及鉴定要素进行讨论。     

Sudden infant death syndrome in Japan

Two autopsied cases are presented, one involving a 5-month-old infant, and a 6-month-old infant both of whom died suddenly and unexpectedly. The incidence of sudden infant death syndrome in Japan is 1.2 per 1,000 babies live births. Among all cases autopsied in the departments of legal or forensic medicine in 78 universities or colleges of Japan, the incidence was 15 (0.5%) per 3,329 in 1984 and 20 (0.6%) per 3,150 in 1985.     

Sudden infant death due to asplenia syndrome

An apparently healthy 80-day-old boy died suddenly for no apparent reason. The autopsy revealed that the patient had had congenital asplenia, extensive cardiovascular anomalies, and other organ malformations, including trisegmented lungs, hypoplasia of the corpus callosum and cranial bones, a symmetrical liver, accessory hepatic tissue in the adrenal glands, malrotation of the intestine, and hypoplasia of the greater omentum.     

监禁中猝死综合征

监禁中猝死综合征是由于高度紧张或躁动状态下,以及其他因素诸如酒精或其他药物的使用、犯人自身的生理情况、特定的强制性体位等因素共同作用下,发生被监禁人员死亡。由于其发生意外,缺乏特征性的尸检结果和毒物分析结果,而成为法医病理学工作者在法医鉴定实践工作中遇到的一个难题。本文总结了相关的危险因素,如犯人的精神状况、药物的使用、被擒拿时所处的体位以及肥胖等,为有效地预防此类事件的发生和法医鉴定工作提供参考。     

Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wiedemann syndrome (BWS) who was born prematurely and died suddenly in the hospital just before being discharged. BWS is a malformation syndrome associated with an increased risk of childhood tumors. The major features of BWS are macroglossia, abdominal wall defects, and visceromegaly, frequently leading to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (termed incomplete penetrance), the risk of delayed diagnosis is evident. Secondary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, and if not anticipated, adequate measures for prevention of hypoglycemic episodes may be delayed, resulting in possible intellectual deficits. The infant presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asphyxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their relevance to medicolegal examination and the causes and manner of death.     

Sudden infant death syndrome: a subject of medicolegal research

During the last decade, much attention has been paid to the risk factors of sudden infant death syndrome (SIDS). Many researchers have demonstrated that infant-care practices are linked to the risk of SIDS. Prone sleeping, bed sharing, maternal substance abuse, and cigarette smoking have been reported to be significant potentially modifiable risk factors for SIDS. Despite the reports that the incidence of SIDS has decreased by 38% in the United States, it remains the leading cause of death in the first year of life. Deaths resulting from child abuse or neglect inflicted or permitted by their caretakers being second only to SIDS in infant mortalities and some recommendations regarding the differentiation of SIDS and child abuse have generated speculation that some cases of infanticide were misdiagnosed as SIDS. To reach a proper conclusion as to the cause and manner of death of an infant who died suddenly and unexpectedly, investigation must be thorough and professional.     

Sudden infant death syndrome (SIDS): a burgeoning medicolegal problem.

This Article presents a summary analysis of the administrative and statutory bases for the documented, prevalent mismanagement of Suddern Infant Death Syndrome (SIDS) cases by a majority of local death investigation agencies in the United States. Herein, Alan P. Cleveland, J.D. advances the theory that the unsatisfactory handling of cases of SIDS by the medicolegal community is the inevitable outgrowth of state laws that expressly require investigative agencies to approach a sudden, unexplained death from the direction of determining first whether or not a criminal act has occurred. In so doing, most statutorily mandated autopsy procedures are socially counterproductive since, in ignoring an acute medical need for supportive family counselling, they often constitute an insuperable obstacle to the effective management of SIDS as a public health problem. The author recommends that a requisite first step in implementing an SIDS management program at the state level is to insulate surviving family members form criminal investigative procedures by appropriate amendment of state laws governing local death investigation systems.     

Sudden infant death with periventricular leukomalacia

Periventricular leukomalacia (PVL) is a form of cerebral infarction occurring in neonates, particularly in low-weight and premature infants. PVL is well-known to neonatologists, but generally considered nonfatal. Many infants with PVL die in the hospital with multiple medical problems. Those infants with PVL who survive because of intensive care will have serious motor and sensory deficits, but these problems are rarely recognized before one year of age. When infants with PVL die at home, death seems sudden and unexpected. However, it is important to distinguish death caused by PVL from the Sudden Infant Death Syndrome because the implications for the family are quite different. This case report emphasizes that PVL may be fatal.     

监禁中猝死综合征

监禁中猝死综合征是由于高度紧张或躁动状态下,以及其他因素诸如酒精或其他药物的使用、犯人自身的生理情况、特定的强制性体位等因素共同作用下,发生被监禁人员死亡.由于其发生意外,缺乏特征性的尸检结果和毒物分析结果,而成为法医病理学工作者在法医鉴定实践工作中遇到的一个难题.本文总结了相关的危险因素,如犯人的精神状况、药物的使用、被擒拿时所处的体位以及肥胖等,为有效地预防此类事件的发生和法医鉴定工作提供参考.     

Sudden infant death syndrome: Histological studies on adrenal gland and kidney

Histological observations were made on the adrenal glands and kidneys in ten cases of sudden infant death syndrome (SIDS). The amount of fetal cortex was excessive in the adrenal glands and many glomeruli of fetal form were observed in the kidneys. These findings suggest that the adrenal glands and the kidneys in SIDS cases are more or less immature in development. The immature development in these organs, especially in the adrenal glands, was considered to play a role in the cardiac or respiratory mechanisms in SIDS.     

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.     

Sudden infant death syndrome: diagnostic practices and investigative policies, 2004

Using a 2004 population-based survey of all US medical examiner and coroner offices, we examined the characteristics of offices accepting an infant death case and calculated the percentage of offices that had death scene investigation or autopsy policies for the investigation of sudden unexpected infant death (SUID). We also calculated the percentage of offices that used and did not use sudden infant death syndrome (SIDS) as a cause of death, and we compared differences in characteristics among those offices.Of medical examiner and coroner offices, 52% did not report an infant death in 2004. Of the 7957 infant deaths reported, 43% occurred in jurisdictions that experienced 1 or 2 infant deaths. Of the offices that used SIDS as a classification, 34% did not have policies for conducting death scene investigations and autopsies for SUID. At least 5% of offices that reported an infant death did not use SIDS as a cause of death classification. These findings have important implications for understanding recent trends in SIDS and SUID. Supporting the implementation of national standards for investigating and certifying infant deaths could provide guidelines for consistent practices in medical examiner and coroner offices.     

Sudden infant death syndrome (SIDS)--standardised investigations and classification: recommendations

Sudden infant death syndrome (SIDS) still accounts for considerable numbers of unexpected infant deaths in many countries. While numerous theories have been advanced to explain these events, it is increasingly clear that this group of infant deaths results from the complex interaction of a variety of heritable and idiosyncratic endogenous factors interacting with exogenous factors. This has been elegantly summarised in the "three hit" or "triple risk" model. Contradictions and lack of consistencies in the literature have arisen from diverse autopsy approaches, variable applications of diagnostic criteria and inconsistent use of definitions. An approach to sudden infant death is outlined with discussion of appropriate tissue sampling, ancillary investigations and the use of controls in research projects. Standardisation of infant death investigations with the application of uniform definitions and protocols will ensure optimal investigation of individual cases and enable international comparisons of trends.     

Sudden infant death syndrome and hypertrophy of the palatine tonsil: reports on two cases.

Two cases of sudden infant death syndrome (SIDS) with hypertrophy of the palatine tonsil were reported. The pathogenesis of the SIDS has been clarified (Guilleminault et al., Pediatrics, 68 (1981) 354-360). According to this theory, it is due to a central impairment of the breathing control during sleep, which is particularly pronounced in predisposed subjects. The present cases suggest that the hypertrophied palatine tonsil might contribute as a predisposing factor to the emergence of a SIDS by mechanical impediment to breathing by narrowing of the upper airway.     

Sudden death and Angelman syndrome

Angelman syndrome is a condition characterized by developmental delay due to abnormalities in the maternally derived chromosome 15q11-q13. Typical features include impaired expressive language, an ataxic gait, and seizures. Hyperactivity may result in accidental bruises and abrasions, raising issues of possible inflicted injury. A fascination with water may predispose to drowning. A 5-year-old boy with an established diagnosis of Angelman syndrome is reported who died of upper airway obstruction due to massively enlarged tonsils complicating infectious mononucleosis. Assessment of the severity of underlying illness in developmentally delayed children may be difficult due to failure to vocalize worsening symptoms and distress. In addition, signs of upper airway narrowing due to infection in Angelman syndrome may be masked by the sucking and swallowing difficulties that affected individuals may have with drooling and excessive chewing and mouthing behavior.     

Sudden death of an infant with 'an early epileptic encephalopathy'.

This article reports an autopsy case of sudden death of an infant with an infrequent encephalopathy involving epileptic episodes. The infant was a 1-year and 10-month-old boy, who had a history of the first convulsive seizures in the third month after birth. The clinical diagnosis was described as 'an early infantile epileptic encephalopathy with suppression-bursts' (Ohtahara syndrome). On a winter day, he was collapsed following a high fever and was already dead on the arrival at a hospital. The body was small for the age and poorly nourished. The autopsy and postmortem magnetic resonance imaging scan (MRI) of formalin-fixed brain revealed advanced unsymmetric brain atrophy with cortical dysplasia, which were prominent in the left temporal and right occipital lobes, and sclerotic atrophy of the parahippocampal gyri, additionally showing a feature of the olivo-ponto-cerebellar atrophy. However, the cause of death was pathologically and microbiologically determined as bacterial bronchopneumonia following pulmonary infection of the influenza A virus. In sudden death cases of physically handicapped infants, the investigation of viral infection in consideration of an epidemiological survey is important even when the death can be pathomorphologically explained.