Pseudoxanthoma elasticum and sudden death

Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers within arteries, eyes, and skin. Characteristic features include yellow-orange papular skin lesions, angioid streaks radiating out from the optic discs, and arterial calcification. The prevalence in the general population varies widely from 1/70,000 to 1/160,000. PXE has an autosomal recessive inheritance pattern and results from mutations in the ATP-binding cassette transporter C6 (ABCC6) that has been mapped to 16p13.1. Over 300 loss-of-function mutations have been identified. Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and cerebral ischemia or hemorrhage. Because of the heritable nature of the disease, family counseling and screening are in order when previously unsuspected cases are encountered at autopsy.     

Undiagnosed, untreated acute promyelocytic leukemia presenting as a suspicious sudden death

Acute promyelocytic leukemia (APL) is a subtype of acute myelogenous leukemia frequently associated with clotting abnormalities and severe hemorrhagic diathesis. The disease is associated with a high incidence of early fatal hemorrhage. We report the sudden death of a 40-year-old male without significant medical history in which foul play had been initially suspected. A thorough postmortem investigation performed on the decedent lead to the diagnosis of APL. Cause of death was a cerebellar hematoma. Underlying APL should be considered in the differential diagnosis when unexplained bleeding is encountered in a decedent. This case emphasizes the value of routinely collecting bone marrow during an autopsy to enable accurate testing and diagnosis.     

窦房结中央动脉狭窄与心源性猝死

近年来国内外学者相继报道由单纯窦房结中央动脉狭窄引起的猝死。本文就窦房结中央动脉的解剖、组织学特点、病变特点进行综述,探讨窦房结动脉狭窄引起猝死的机制,以期为相关法医病理学死因鉴定提供理论基础。     

The role of environmental factors in the causation of sudden death in infants: two cases of sudden unexpected death in two unrelated infants who were cared for by the same babysitter

We report two cases of sudden unexpected death in two unrelated African American female infants, 2 months and 4 months old. Both infants were attended to by the same babysitter in the same apartment and died 39 days apart in the same bed and in the same bedroom. The autopsy of the first infant revealed sudden unexplained death in an infant. Toxicologic analysis for carbon monoxide (CO) was not performed because it was not suspected. When the second infant died, investigation into the ambient air quality within the apartment revealed high levels of CO emanating from a poorly ventilated and defective hot water heater, which was located across a hallway from the bedroom where the two babies died. CO saturation levels in the postmortem blood samples of the two babies were elevated and were similar (13% and 14%). Nicotine and cotinine were not detected in the blood sample of the two infants. Cherry-red livor mortis was absent. Acute CO intoxication was determined to be the underlying cause of these two unexpected deaths. These two cases underscore the need to integrate ambient air analysis and postmortem CO analysis as routine components of the comprehensive death investigation of infants who die suddenly and unexpectedly.     

抗精神病药物致心源性猝死的机制及其法医学意义

精神障碍患者是由各种原因导致脑功能障碍并伴有一系列功能缺失和寿命缩短的群体,其死亡率为普通人群的2~5倍,且服用抗精神病药物导致猝死的发生率明显高于不服药者。大量案例报道和临床资料的回顾性研究表明,精神障碍患者发生心源性猝死风险与服用APs相关。本文简要介绍APs致心源性猝死的机制和危险因素,以期为法医学鉴定提供参考依据。     

Forensic evaluation of sudden death due to tuberculosis

Abstract:  The emergence of drug-resistant tuberculosis (TB) poses a major threat to TB control efforts. We report a case of a 50-year-old man with pulmonary TB. The scene investigation had initially suspected for homicide; however, the result of medico-legal autopsy demonstrated natural cause of death. Statistical data suggest that the rates of national mortality by respiratory TB decreased in the last decades in Hungary; however, an increasing TB mortality was detected in the capital Budapest. Facing a new mortality trend in TB, the forensic scene investigation and determination of manner of death represent new challenges for practitioners.     

316例急死的法医学分析

对重庆地区316例急死进行分析。结果表明:男性多于女性,中青年及小于10岁的婴幼儿居多,第三季度增多,呼吸系统疾病居首位,其次为循环系统疾病,死亡场所是医院占多数。     

青壮年猝死综合征的研究现状

青壮年猝死综合征（SMDS）是法医学研究的难点之一，其猝死机制尚未阐明。本文从SMDS的流行病学、心脏组织免疫学、心脏电生理、基因学等方面的研究进行综述，以期望为进一步研究获得启示。     

Three unusual neuropathologic-related causes of sudden death

We discuss the autopsy findings of three medico-legal cases of sudden death associated with uncommon neuropathologic findings of which the general forensic pathologist may not be familiar. Case 1 was a 43-year-old man who died of a seizure due to malignant melanoma of the temporal lobe associated with neurocutaneous melanosis (NCM). Case 2 was a 57-year-old woman with a history of mental retardation and incoordination because of chronic lead poisoning, who died of a pulmonary thromboembolism due to deep venous thrombosis status post left leg fracture after a fall down a staircase. Autopsy revealed atrophy and gliosis of her cerebellum as a result of childhood lead poisoning. The third patient was a 75-year-old woman who died as a result of acute bacterial leptomeningitis at the cervico-medullary junction with acute inflammation of the connective tissue of her upper cervical spinal column associated with subluxation of her atlantoaxial (AA) joint, also known as Grisel's syndrome.     

致死性心律失常的法医学研究进展

据文献报道,有很多心源性猝死是由于致死性心律失常所致。在法医学鉴定工作中,心律失常所引起的猝死往往很突然,尸检及镜下病理学检查又缺乏特征性的改变,使得鉴定其死亡机制成为一大难点。因此,寻找一种客观、准确的心律失常鉴定方法,对于致死性心律失常所致心源性猝死的鉴定尤为重要。本文将就上述问题,从致死性心律失常的定义、分类、产生原因、致死机制、形态学所见及死后生化检测指标等方面进行综述,以期为心源性猝死致死原因的法医病理学分析、鉴定提供帮助。     

Infant death scene investigation and the assessment of potential risk factors for asphyxia: a review of 209 sudden unexpected infant deaths

At the Wayne County Medical Examiner Office (WCMEO) in Detroit, Michigan, from 2001 to 2004, thorough scene investigations were performed on 209 sudden and unexpected infant deaths, ages 3 days to 12 months. The 209 cases were reviewed to assess the position of the infant at the time of discovery and identify potential risk factors for asphyxia including bed sharing, witnessed overlay, wedging, strangulation, prone position, obstruction of the nose and mouth, coverage of the head by bedding and sleeping on a couch. Overall, one or more potential risk factors were identified in 178 of 209 cases (85.2%). The increasing awareness of infant positions at death has led to a dramatic reduction in the diagnosis of sudden infant death syndrome at the WCMEO. This study suggests that asphyxia plays a greater role in many sudden infant deaths than has been historically attributed to it.     

青壮年猝死综合征研究现状

青壮年猝死综合征(SMDS)一直是国内外医学界尤其是法医学领域研究的热点,近来对SMDS的发病特点及致病机制等都有广泛而深入的研究,但仍有部分关键问题尚未解决。本文通过文献复习并结合法医检案,分别从分子遗传学、免疫组织化学、冠状动脉结构或功能异常、自主神经调节作用等方面介绍SMDS的研究进展。     

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。     

Sarcoidosis and mechanisms of unexpected death

Sarcoidosis is a multisystem disease of uncertain etiology characterized by multifocal areas of discrete and confluent granulomatous inflammation that may rarely be responsible for sudden and unexpected death. Two cases are reported to demonstrate disparate pathological features in fatal cases, one involving cardiac sarcoidosis, and the other neurosarcoidosis with hypothalamic infiltration. Sarcoidosis in individuals dying suddenly may be completely unrelated to the death, contributory or causal. Cardiovascular causes of sudden death in sarcoidosis include arrhythmias associated with cardiomyopathy and ischemia, ventricular rupture, and cor pulmonale due to pulmonary hypertension; respiratory causes include hemorrhage and upper airway obstruction; central nervous system causes include arrhythmias from infiltration of autonomic centers, epilepsy, and obstructive hydrocephalus from brainstem involvement; and gastrointestinal deaths may be due to hemorrhage from esophageal varices associated with portal hypertension. The diagnosis relies on the demonstration of typical noncaseating granulomas and the exclusion of other infective and environmental diseases with similar histopathological findings.     

Sudden death owing to right atrial hemangioma

Primary cardiac tumors are rare, with an autopsy incidence of 0.03%. Seventy-nine percent to 85% of primary cardiac tumors are benign, and of the benign tumors, cardiac hemangiomas account for 5-10% of cases. Most cardiac hemangiomas are asymptomatic and are discovered incidentally at autopsy, or by echocardiography, computerized tomography, or magnetic resonance imaging. We report a case of sudden death owing to cardiac hemangioma in a 22-year-old woman who collapsed while shopping and became unresponsive. The autopsy revealed a hemorrhagic mass on the surface of the right atrium which was infiltrating and replacing the wall of the right atrium; histopathological examination confirmed the tumor was a cavernous hemangioma. Fewer than 20 cases of right atrial cavernous hemangiomas have been reported in English literature, emphasizing the rarity of our case.     

A case of sudden infant death due to a primary cardiac sarcoma

The case reported herein concerns the unexpected death of a 3-month-old female newborn who suddenly collapsed in her mother's arms and was dead on arrival at the hospital. The clinical histories of the baby and her parents were negative for symptoms or signs of illness, even those of cardiovascular origin. Furthermore, no clinical appearance of a pathologic status was noted by pediatricians after the birth until the last emergency recovery. The autopsy excluded external and internal signs of violence but revealed a large primary cardiac tumor arising from the free wall of the left ventricle, which had totally invaded the heart causing mitral valve deformation. Histological examination showed a low-grade sarcoma that completely infiltrated the myocardial tissue. The pathogenesis of this sudden infant death was postulated as being owing to a fatal ventricular fibrillation combined with a tumor-related restrictive cardiomyopathy obstructing left ventricular filling.     

RyR2相关心脏性猝死的研究进展

雷诺定受体2(ryanodine receptor 2,RyR2)是心肌细胞肌浆网上主要的钙释放通道,主要参与心肌的兴奋收缩耦联过程,其基因突变及调控异常可导致心肌舒张期钙漏引起心律失常,甚至猝死。本文重点综述RyR2基因突变及调控异常引起心脏性猝死的机制,并对以后的研究提出建议,旨在为心脏性猝死的法医学诊断提供一种新的思路。     

97例心性猝死的法医病理学分析

目的探讨心性猝死（SCD）的特点、病理基础及致死因素和诱因等。方法对本系2002年12月至2006年12月期间，所作450例法医病理检案的97例心性猝死案例进行分析研究。结果97例SCD患者中，冠心痛猝死38例，心肌炎23例，心肌痛16例，高血压性心脏病12例，主动脉瘤破裂4例，肺栓塞4例。结论SCD病程短骤、凶险，以老年男性多见，冠心病占首位。由于猝死的因素繁多，因此对猝死事件的法医学鉴定要根据其发生特征和变化规律，作出客观、全面、准确的签定结论。     

Further observations on the speed of death in hanging

Given that most fatal hangings are suicidal and occur in locations that have been selected to conceal this activity (thus maximizing the chances of a lethal outcome), there has been very little corroboration of the speed with which unconsciousness and death may occur. A 35-year-old male is reported who committed suicide by hanging immediately after talking to his spouse. Police investigations confirmed her reliability as a witness indicating that lethal anoxia in this case had occurred within a very short time (most likely in less than 1 min) of suspension. The speed with which death may result from hanging not only gives an insight into fatal pathophysiological mechanisms, but also provides useful information for situations where a lethal outcome is to be avoided, or is not intended. For example, individuals at risk of suicide who are being monitored in institutional facilities need to be constantly under direct visual surveillance as significant hypoxia can be rapidly induced, parents and caregivers with infants and children in potentially unsafe sleeping environments need to realize how swiftly death or irreversible anoxic brain damage may occur from neck compression, and those who engage in recreational asphyxia should be informed just how quickly a fatal outcome may ensue.