Evaluation of sudden death in epilepsy

Records of the Office of the Chief Medical Examiner of the State of Maryland were reviewed for all cases of natural deaths due to epilepsy occurring in 1981 and 1982. Cases involving unclear seizure history, alcoholism, or other superimposed disorders were excluded. Twenty-nine cases were accepted and analyzed with respect to age, race, sex, circumstances of death, neuropathology, and anticonvulsant therapy. Most cases involved black males, the median age at death was 26 years, and the vast majority died in bed or in the bedroom. Less than half of these individuals had neuropathological lesions. Most had detectable levels of anticonvulsants in post-mortem blood; more than half the decedents with detectable levels of phenobarbital showed therapeutic levels of this drug.     

Splenectomy and sudden death.

Four cases of fatal fulminant Streptococcus pneumoniae septicemia in asplenic individuals have been presented, demonstrating the relative lack of specificity of the symptoms and rapidity of the clinical course. Vigorous specific therapy was without apparent effect in two of the cases. No apparent reticuloendothelial deficiency prior to splenectomy was detected in two cases, and theoretically rather than clinically present in the others. Individual was hyposplenic secondary to splenic atrophy. The rapidity of the course and unexpected death will often bring such cases under the jurisdiction of the coroner or medical examiner, and medicolegal investigators should be alert for this syndrome.     

Comparison of heart mass in seizure patients dying of sudden unexplained death in epilepsy to sudden death due to some other cause

Proposed mechanisms by which sudden unexplained death syndrome in epilepsy (SUDEP) occurs include cardiac dysrhythmias. We hypothesized that individuals dying of SUDEP would have enlarged hearts compared with normal, increasing the risk of sudden cardiac death should the autonomic nervous system initiate a dysrhythmia. We performed a retrospective case-control study in a medical examiner population, comparing the mean heart mass in a group of individuals who died of SUDEP to a group of individuals with epilepsy who died suddenly due to some unrelated cause (non-SUDEP). We found no significant difference in the mean heart mass between the 2 groups when analyzing the unadjusted data. Upon stratifying the cases by age, however, we found a significant reduction in the frequency of SUDEP in individuals 40 or more years of age with an increased heart mass compared with those younger. This reduced frequency disappeared when cases where the cause of death was indeterminate between SUDEP and heart disease were reclassified from non-SUDEP to SUDEP. With increasing age, the likelihood of finding a cause of death that competes with the possibility of SUDEP increases, making SUDEP appear to be a phenomenon of the young. The inclusion of seizure deaths evaluated in a medical examiner office in studies of SUDEP would provide the benefit of a more certain diagnosis in each given case. Moreover, the inclusion of cases from the medical examiner population would stem attrition in a clinical study due to loss to follow-up.     

Papillary fibroelastoma of the aortic valve: a sudden death case of coronary embolism with myocardial infarction

Papillary fibroelastoma is a rare benign tumor, occasionally causing angina or sudden death. We report an autopsy case of an aortic valve papillary fibroelastoma with coronary artery embolism. The patient was a 68-year-old Japanese man who had collapsed suddenly in his house. He was a heavy drinker and had a history of liver disease but no notable cardiac event. The autopsy revealed extensive transmural infarction of the inferior wall of the left and right cardiac ventricles. The distal portion of the right coronary artery (segment 4, NYHA) was completely occluded by tumor emboli of the fibroelastoma. At the site of closure of the aortic non-coronary cusp, there was a typical papillary fibroelastoma, which was considered to have originated the coronary embolization.     

Oronasal blood in sudden infant death.

Oronasal secretions are observed frequently in sudden infant death syndrome (SIDS), but overt blood is uncommonly reported. The literature on oronasal blood in sudden infant death is limited. The goal of this study was to determine the frequency of oronasal blood in sudden infant deaths and to examine possible causative factors. Oronasal blood was described in 28 (7%) of 406 cases of sudden infant death. Oronasal blood could not be attributed to cardiopulmonary resuscitation in 14 cases, including 10 (3%) of 300 cases of SIDS, 2 (14%) of 14 accidental suffocation cases, and 2 (15%) of 13 undetermined cases. Eight of the 10 infants in cases of sudden infant death were bedsharing: 5 with both parents, 2 between both parents. The infant in 1 SIDS case was from a family that had had three referrals to Child Protective Services. Oronasal blood not attributable to cardiopulmonary resuscitation occurs rarely in SIDS when the infant is sleeping supine in a safe environment. Bedsharing may place infants at risk of suffocation from overlaying. Oronasal blood observed before cardiopulmonary resuscitation is given is probably of oronasal skin or mucous membrane origin and may be a sign of accidental or inflicted suffocation. Sanguineous secretions that are mucoid or frothy are likely of remote origin, such as lung alveoli. The use of an otoscope to establish the origin of oronasal blood in cases of sudden infant death is recommended.     

Diagnosis of sudden unexplained death in epilepsy by immunohistochemical staining for prolactin in cerebral vessels

Sudden unexplained death in epilepsy occurs when epilepsy patients die suddenly and unexpectedly in the absence of recent tonic-clonic seizure activity. There is currently no known reliable indicator of acutely lethal seizure activity. Clinical studies record a relationship between recent (within 10-40 minutes) seizure activity and elevated serum prolactin levels, and postictal elevation of prolactin within peripheral vessels has proved clinically useful in determining recent seizure activity. The authors hypothesized that elevated prolactin could be detected in cerebral vessels by immunohistochemical stains, serving as a marker for sudden unexplained death in epilepsy. They conducted a retrospective study of individuals who died in their jurisdiction during the 14 years from 1986 through 1999. The study contained one group of individuals who died of sudden unexplained death in epilepsy, a group with epilepsy who died of some other cause, and a control group whose members died rapidly of a gunshot wound of the torso. Sections of hippocampus and neocortex were obtained and stained with a polyclonal prolactin antibody. No significant difference in the level of immunostaining for prolactin in cerebral vessels was found between the experimental and control groups. A review of the protocols used indicates that revision of certain aspects may provide better immunostaining and more conclusive results.     

Tumours and sudden death

A series of 27 sudden deaths caused by tumours, amounting to 1.2‰ of all deaths in the 5-year period studied, is found to include 9 cases where the death had also been unexpected, since the fatal tumour had gone undiagnosed. Four of these cases had had no preceding symptoms. Males were predominant (19 males vs. 8 females), and all the sudden unexpected deaths were males. The age range was 24 – 86 years for the males and 45 – 83 years for the females.The most common tumour was bronchial epidermoid carcinoma, which caused sudden death by massive haemorrhage into the lungs or externally. In the latter case the scene of death at home resembled a violent death. Other tumours found were mostly gastric or oesophageal epidermoid carcinomas and adenocarcinomas of the kidney, pancreas, ovary and colon.     

Occurrence of myocarditis in sudden death in children.

This study suggests that the prevalence of "silent" myocarditis may be higher in the pediatric population than is generally suspected and may contribute to a significant number of sudden and unexpected deaths in children, particularly those older than one year of age. The incidence of histologic myocarditis in children dying a violent death is similar to that reported as an incidental finding in adults.     

Tuberculosis and sudden death in Baghdad

Tuberculosis deaths represent a recognizable proportion of all medicolegal statistics in and around Baghdad. Out of the total number of autopsies performed at the Medicolegal Institute at Baghdad, Iraq, in the years, 1948, 1953, 1958, 1963, 1968, 1973, and 1978, 168 sudden deaths were attributed to tuberculosis. Bilateral pulmonary tuberculosis was the principle lesion in the majority of the victims. Tuberculosis cavitation was the major finding in 126 cases, followed by advanced pulmonary TB without cavitation in 25. There was no gross abnormality, except for a histological basis of pulmonary TB associated with miliary TB involving hepatic, renal, meningeal, and mesenteric organs in the remaining 17 autopsies. The abrupt and suspicious deaths in older people, especially during cold months, is more likely due to TB. Autopsy should be performed in all cases of sudden and suspicious deaths. Histological study of different body organs, whether death is attributed by the investigative authority or not related to TB, should be required in all medicolegal autopsies, in order to obtain a true picture of TB as a natural cause of death.     

Adrenal hypofunction and sudden death

Adrenal insufficiency is an infrequent and easily overlooked cause of sudden death, often occurring in individuals being treated for other serious disease processes. Three cases are presented to demonstrate some of the clinical presentations encountered, and the symptoms and signs are discussed.     

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.     

Malignant hyperpyrexia and sudden death

Two teenage boys, brothers, died suddenly within 2 months of each other. No clear cause of death could be identified in either case. Because of previous reports of the association between malignant hyperpyrexia and sudden death in otherwise healthy young men, we examined the parents. The father was found to be malignant hyperpyrexia-susceptible.     

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.     

Total anomalous pulmonary venous drainage and sudden death in infancy.

The clinicopathologic features of four infants with undiagnosed total anomalous pulmonary venous return who died suddenly and unexpectedly are presented. Two infants were found dead in their beds and two collapsed following very non-specific episodes of mild tachypnoea and tachycardia, respectively. Pulmonary venous blood drained via a common channel to the left innominate vein, the superior vena cava, the inferior vena cava at the junction of the hepatic vein and the supradiaphragmatic portion of the inferior vena cava. All cases demonstrated right atrial and ventricular hypertrophy and in one case there was associated hypoplastic left heart syndrome. Although those mechanisms responsible for sudden infant death syndrome could not definitely be excluded in two cases, the presence of anomalous pulmonary drainage with significant right-sided cardiac cardiac hypertrophy in each patient strongly suggests a contributing role for the vascular malformation in the aetiology of sudden unexpected death. The importance of careful in situ dissection of the major vessels in all cases of paediatric sudden death is emphasised, particularly in the presence of other congenital cardiac anomalies.     

Cardiovascular malformations and sudden death in infancy

BACKGROUND: We survey the postmortem findings of cardiovascular malformations in infants under the age of 1 year who died suddenly and unexpectedly, in a way that mimicked sudden infant death syndrome (SIDS), and evaluate the importance of the malformation for the fatal outcome. METHODS: Four hundred fifty-seven infants under the age of 1 year, who died between 1982 and 2001, were investigated at the Department of Forensic Medicine in Stockholm, Sweden. RESULTS: Cardiovascular malformations were found in 18 infants (3.9%). Only 6 of 18 malformations, mostly severe, were clinically diagnosed before death. In the other 12 infants, cardiovascular malformations were found, such as atrial or ventricular septal defects, coarctation of aorta, stenosis of the aortic or pulmonary artery orifice, and aneurysm of the membranous portion of the interventricular septum. In all instances, the heart weight was increased. CONCLUSIONS: The observation of undiagnosed cardiovascular malformations as the only explanation for the cause of sudden and unexpected death in apparently healthy infants may advocate more examinations of the infant during early life. It is also important to enlarge the debate of the cause of death in infants with cardiovascular malformations. Should they be included in borderline SIDS?     

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.