Sudden unexpected death in epilepsy: a retrospective study

Patients with epilepsy have a mortality rate higher than that of the general population; sudden unexpected death represents a significant category of mortality in these patients. The precise frequency of occurrence of sudden unexpected death in epilepsy (SUDEP) is not well defined, with a range of 1 in 370 to 1100 in the general epileptic population. A major difficulty with incidence studies is the continued reluctance in using the term SUDEP as a cause of death, making reliance solely on death certificates inconsistent and incomplete. Knowledge about SUDEP remains limited, as no single common risk factor has yet been identified, although predisposing conditions have been suggested. The purpose of this study is to review the association between several clinical variables and SUDEP to elucidate risk factors. The characteristics of the 67 cases in this series correlate with published findings in previous studies. Attributes that may be used to define an at-risk group of epileptics include age less than 40 years, male gender, long history of seizure disorder, undermedication or poorly controlled seizure activity, and mental or physical stress. Education of physicians as to the existence of SUDEP and risk factors is imperative in improving patient education and reduction in mortality.     

Sudden death associated with a multifocal type II hemangioendothelioma of the liver in a 3-month-old infant

Sudden unexpected death in an infant caused by or associated with neoplasm is rare. We describe a case of a sudden death in an apparently healthy 3-month-old female, in which the autopsy revealed a multiple type II infantile hepatic hemangioendothelioma (IHE). This uncommon tumor has, untreated, a relatively high mortality rate, mainly due cardiac failure resulting from massive arteriovenous shunts, but the association with sudden infant death is very rare.     

Dieulafoy lesion of the esophagus causing massive upper gastrointestinal bleeding and death: a case report

Dieulafoy lesion is a rare cause of upper gastrointestinal bleeding. We present a case report of sudden and unexpected death in a previously healthy male where autopsy revealed a classic Dieulafoy lesion with a submucosal artery protruding through a small mucosal defect in the esophagus, thereby exposing it to stress and consequent rupture. Advances in endoscopic techniques have drastically reduced mortality from Dieulafoy lesion. Nevertheless, it is an important diagnosis to be kept in mind when autopsy reveals an upper gastrointestinal bleeding.     

Cosleeping and sudden unexpected infant deaths in Kentucky: a 10-year retrospective case review

This retrospective case review investigates modifiable risk factors in sudden unexpected infant deaths, including those attributed to sudden infant death syndrome, and examines the impact of cosleeping with adults or siblings. The study examines sudden unexpected infant deaths from 1991 to 2000 in the state of Kentucky, excluding homicides and deaths from identifiable natural causes. Meta-analysis provides a cosleeping prevalence control in normal infants. Based on the findings described herein, we conclude that cosleeping may represent a risk factor in sudden unexpected infant deaths and that a full scene investigation, including whether the infant was cosleeping, should be sought in all cases of sudden infant death.     

Sudden Infant and Early Childhood Death and Sinus of Valsalva Pseudoaneurysms

Two cases of occult pseudoaneurysms of the sinus of Valsalva (SoV) are reported to demonstrate different etiologies and lethal mechanisms. A previously well 9‐month‐old boy who suffered an unexpected fatal cardiorespiratory arrest was found at autopsy to have a ruptured pseudoaneurysm of the left SoV resulting in lethal hemopericardium. A 13.5‐month‐old boy died soon after presenting with a 24‐h history of poor feeding and reduced urine output. At autopsy, destruction of the noncoronary cusp of the aortic valve by bacterial endocarditis was found with extension of the inflammation into a pseudoaneurysm of the SoV with surrounding abscess formation involving the atrioventricular node. Death was most likely due to an arrhythmia. Pseudoaneurysms of the SoV are exceedingly rare but may result in sudden/unexpected death in infancy and early childhood from rupture or involvement of the conduction system or myocardium. Detailed cardiac examination is essential in all unexpected deaths in early life.     

Blood alcohol in sudden and unexpected deaths

Blood alcohol concentration was determined in 1672 sudden and unexpected natural and non-natural out-of-hospital deaths. The material covered all medicolegal autopsies in the province of Uusimaa which has a population of approximately 1.1 million inhabitants. In general, the prevalence of cases with alcohol in the blood at the time of death was high but varied considerably according to sex, age, and the cause and manner of death. The blood alcohol result was positive in 36% of the male and in 15% of the female material. In 59% of the alcohol-positive male and in 54% of the alcohol-positive female cases the actual concentrations were at least 1.5%. Acute use of alcohol was regarded as a significant condition contributing to death in 23% of the whole male and in 8% of the whole female material. These gross results and the details presented indicate that the acute use of excess alcohol is a factor contributing to non-natural but also to sudden and unexpected natural deaths to an extent that is not generally known. The results also emphasize that simple blood alcohol determination should be a routine procedure in the autopsy praxis of all sudden and unexpected natural and non-natural out-of-hospital deaths.     

Sudden infant death with congenital cytomegalic inclusion disease

Cytomegalic inclusion disease was found in a 5-week-old infant who died unexpectedly. Myocarditis was observed; it was believed to be the cause of this unexpected death.     

Numerous cortical tubers and rhabdomyomas in a case of sudden unexpected infant death

Sudden infant death syndrome is the leading cause of death in infants between the ages of 1 month to 1 year. Sudden infant death syndrome, a diagnosis of exclusion, can only be made after other explanations for unexpected death have been ruled out. Tuberous sclerosis complex is occasionally the findings in these patients with unexpected infant death. Here, we present a case of an unexpected infant death during sleep with multiple factors that confound the cause of death. We discuss these factors and attempt to delineate their contributions to arrive at a cause and mechanism of death.     

Sudden, unexpected death due to fourth ventricular subependymoma

A case of sudden, unexpected death due to fourth ventricular subependymoma (subependymal glomerate astrocytoma) in a 60-year-old man is presented. Sudden, unexpected death due to uncomplicated subependymoma has not been previously described.     

The Forensic Implications of Turner's Syndrome

Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.     

Pathologico-anatomic findings in sudden, unexpected death in children and adults with influenza A infection

Thé following observations resulted from studies on forensic autopsy cases: In 76% of the adults and 55% of the infants the cases of unexpected sudden death without morphologically verifiable causes of death showed virologic evidence of recent influenza-A (H3N2)-infection. The pathologic findings corresponded with the findings in lethal infections with influenza-A viruses. Investigation of cases of sudden and unexpected death should always include virologic serum tests. The demonstration of IgM antibodies against influenza-A virus confirms that there was a recent infection. Death from influenza-A infections occurs also in the interepidemic periods.     

Fatal ischemic stroke due to dissecting aneurysm of the intracranial arteries presenting as sudden unexpected death in childhood

Sudden unexpected death is any nontraumatic death in healthy individuals with normal activities for age until acute demise. Whereas not uncommon in adults and infants, it is considered a rarity in children, with most cases due to infection or occult cardiovascular abnormalities. Pathologic intracranial findings are rarely found in sudden unexpected death in childhood, with most cases due to occult intracranial neoplasms. Cerebral arterial dissection is an uncommon cause of arterial ischemic stroke in childhood. Outcome is poor, with more than 20% of patients dying. We report 4 cases of sudden unexpected death due to arterial ischemic stroke after cerebral arterial dissection in childhood and present a review of the literature.     

Disseminated Neonatal Herpes Simplex Virus Infection with Escherichia Coli Coinfection

Neonatal herpes simplex virus (HSV) infection is an uncommon disease that rarely presents as sudden unexpected death of a previously healthy newborn. Clinical manifestations are variable; signs and symptoms may be subtle and nonspecific. Neonatal infection may present with mucocutaneous (skin, eye, and/or mouth), disseminated, or central nervous system disease. Morbidity and mortality are dependent upon disease presentation and treatment. The infection is most frequently transmitted during the peripartum period, although the majority of mothers have no known history of HSV infection at the time of delivery. Findings at autopsy include gastrointestinal or mucocutaneous ulcers, diffuse hepatic necrosis, adrenal necrosis, pneumonitis, and splenic necrosis. Characteristic intranuclear viral inclusions are identified on microscopic examination. Coinfection with bacterial organisms may contribute to death. Autopsy examination with appropriate ancillary studies, including cultures, is critical given that many infants lack cutaneous manifestations of disease and remain undiagnosed prior to death.     

An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature

The present report describes the unexpected death of a 6-month-old female infant who had been clinically diagnosed with Joubert syndrome. This is a relatively rare congenital neurological disorder characterized by hypoplasia/aplasia of cerebellar vermis, which transmits information from the body to the cerebellum, and is associated with respiratory dysfunction, abnormal eye movements, and developmental delay. The infant was found dead in bed and the immediate cause of death was determined as aspiration of vomit which may have been induced by a neurological disorder related to hypoplasia of the cerebellar vermis. These findings, together with a review of previous clinical case reports, suggest that Joubert syndrome should be considered as a predisposition to sudden unexpected death in infants mainly due to aspiration or complicated infection.     

Acute pancreatitis presenting as sudden, unexpected death: an autopsy-based study of 27 cases

Acute pancreatitis represents a spectrum of disease, ranging from a mild, transitory illness to a severe, rapidly progressive hemorrhagic form, with massive necrosis and mortality rates of up to 24%. The reported incidence of acute pancreatitis diagnosed first at clinicopathologic autopsy ranges between 30% and 42%. To better describe outpatient fatalities due to acute pancreatitis that present as sudden, unexpected death, we retrospectively reviewed the autopsy files at the Institute of Legal Medicine, University of Hamburg, Germany, from 2000-2004. Individual cases were analyzed for sex, age, race, circumstances of death, social background of the deceased and previous medical history, seasonal occurrence of the disease, blood alcohol concentration at the time of death, body mass index, autopsy findings, histopathology, and etiology of acute pancreatitis. Among the 6178 autopsies carried out during the 5-year period evaluated, there were 27 cases of acute pancreatitis that presented as sudden, unexpected death. In all cases, the diagnosis was first made at autopsy. The male:female ratio was 1.7:1 and the mean age was 52 years (range, 30-91 years). Etiologies of acute pancreatitis included alcohol (n=19), gall stones (n=2), other identified etiologic factors (n=3), and idiopathic (n=3). Complications of acute pancreatitis included lung edema and/or acute respiratory distress syndrome, peritonitis, disseminated intravascular coagulation, and sepsis. At least 20 subjects (74%) had lived isolated, with no social contacts. Contrary to the clinical observations of a clear seasonal variation in the onset of acute pancreatitis, we found no correlation between death due to acute pancreatitis and a specific month or season. Many prior studies have suggested that the majority of deaths in severe acute pancreatitis occur in the late phase of the disease as a result of pancreatic sepsis. Conversely, in the present study, the majority of affected individuals died during the very early phase of the disease. While gallstones represent the main etiologic factor in most larger clinical series, biliary etiology seems to play only a minor role in outpatient deaths undergoing medicolegal autopsies. Data derived from medicolegal autopsy studies should be included in future population-based studies of acute pancreatitis.     

Ruptured berry aneurysms: a clinical, pathological and forensic review

A retrospective autopsy survey of 583 cases of ruptured berry aneurysm over a period of 25 years with reference to incidence, circumstances and predisposing factors. Over half of the deaths occurred in the 50-80 year age group, the overall male/female ratio being 2:3, the aneurysms being predominately on the middle and anterior cerebral arteries. Most deaths occurred in the home environment without precipitating factors, one fifth being sudden and unexpected in nature. There was no connection between physical trauma and ruptured aneurysm and no instance of a criminal or civil charge. Autopsy and dissection of the cerebral vessels is vital to diagnosis, particularly when deaths are unexpected in nature.     

Aortic Dissection and Sudden Unexpected Deaths: A Retrospective Study of 31 Forensic Autopsy Cases

Acute aortic dissection (AAD) is the most common cause of sudden unexpected death related to aortic diseases. A retrospective study of 31 sudden unexpected deaths caused by AAD was conducted at Xi'an Jiaotong University Forensic Center from 2001 to 2012. We summarized the forensic characteristics of AAD and assessed the clinically diagnostic accuracy of AAD. The characteristics of sudden unexpected death due to AAD were male predominant (male: female = 6.7:1), relatively young with the mean age of 44, and predominance of type A dissection (77.4%). Cardiac tamponade was the most frequent cause of sudden death (87.1%). Of the 31 cases, 26 (83.9%) patients were not recognized clinically and were misdiagnosed with acute myocardial infarction, coronary artery disease, cholecystitis, acute gastroenteritis, renal/urinary lithiasis, or acute pancreatitis. In summary, AAD can be difficult to recognize, diagnosis is therefore sometimes delayed or missed. The medicolegal death investigation can help physicians have a better understanding of AAD.     

Sudden unexpected death in epilepsy: neuropathologic findings

Sudden unexpected death in epilepsy refers to sudden death of an individual with a clinical history of epilepsy, in whom a postmortem examination fails to uncover a gross anatomic, toxicologic, or environmental cause of death. Evidence of terminal seizure activity may not be present. One to two percent of natural deaths certified by the medicolegal death investigator are attributed to epilepsy. Detailed microscopic examination of the brain has increasingly afforded the identification of structural changes representative of epileptogenic foci. The authors present 70 cases of death attributed to sudden unexpected death in epilepsy. These cases were classified as follows: individuals who lacked a gross brain lesion, those who had a brain lesion demonstrable at autopsy, and those who lacked neuropathologic evaluation because of decomposition or because only an external examination was done. All of the subjects had a clinical history of seizures. The authors confirm that various microscopic findings, including neuronal clusters, increased perivascular oligodendroglia, gliosis, cystic gliotic lesions, decreased myelin, cerebellar Bergmann's gliosis, and folial atrophy, are present in a higher percentage of the brains of sudden unexpected death in epilepsy subjects than in the brains of age- and sex-matched control subjects.     

Association of right coronary artery hypoplasia with sudden death in an eleven-year-old child

Congenital coronary artery abnormalities are a rare but well-documented cause of sudden and unexpected death in the pediatric age group. Most reported cases involve both an aberrant origin and course of the abnormal vessel. A case of unexpected death occurring in an otherwise healthy eleven-year-old boy, who had been previously investigated for sudden collapse, is described. The major finding at autopsy was marked disparity in diameter between the coronary arteries due to diffuse hypoplasia of the right coronary artery. This case demonstrates the importance of meticulous examination of the coronary artery system in cases of sudden death in childhood so that significant reduction in luminal cross section will be adequately documented. The possible role played by this finding in the etiology of sudden death is discussed.     

Inferior Vena Cava Tumor Thrombosis Secondary to Metastatic Uterine Cancer: A Rare Cause of Sudden Unexpected Death

Pulmonary tumor thromboembolus (PTTE) secondary to uterine cancer is a rare cause of sudden unexpected deaths in the elderly population. Additionally, tumor extension to the inferior vena cava (IVC) makes it rarer. No such cases have been previously reported in the forensic literature. We report this phenomenon in a previously healthy 70‐year‐old woman with no other known risk factors for the development of deep vein thrombosis. The deceased was found dead while watching television with her relatives. Autopsy examination revealed that her death was attributed to a saddle embolus lodged in the main pulmonary arteries. A uterine tumor was discovered, and microscopic examination revealed low‐grade endometrial stromal sarcoma with angiolymphatic invasion. The tumor cells were also found in the embolus and the remnant thrombosis attached to the inner wall of the IVC. This case demonstrates a sudden unexpected death caused by acute PTTE following seeding of uterine cancer into the IVC and raises awareness of such events.