Sudden and unexpected death in epilepsy (SUDEP) represents the predominant cause of premature deaths in young adults with epilepsy and is more common with patients with poorly controlled and generalized convulsive seizures. It is reported that there are 1,16 cases for every 1000 subjects affected with epilepsy. This review takes stock of the current problems and issues in the autopsy of cases of sudden death with epileptic people. For this purpose, all the possible findings of post-mortem examinations reported in the literature were analyzed and summarized, which can currently be considered useful for autopsy diagnoses as well as in the comprehension of the physiopathology of SUDEP. The enormous limitation of forensic pathology studies is the complete lack of a specific SUDEP diagnostic marker. Only in a few cases was it possible to find pathological signs of the brain that would clarify epilepsy-related deaths. Genetic research has tracked down variants of neurocardiac genes of ion channels in a restricted percentage of suspected SUDEP cases. The actual pathogenicity test requires an in-depth statistical analysis in order to prove there is a real excess of variants and evidence that the mutation alters the function. Despite scientific efforts, it is often difficult to distinguish SUDEP from other causes of sudden death. For these reasons, it will be necessary to create an international standard SUDEP death scene investigation and postmortem examination protocols. Further future studies of immunohistochemistry or genetics may help and may facilitate post-mortem diagnosis in cases of presumed SUDEP.

Review on post-mortem diagnosis in suspected SUDEP: Currently still a difficult task for Forensic Pathologists

Barranco, Rosario;Caputo, Fiorella;Molinelli, Andrea;Ventura, Francesco
2020-01-01

Abstract

Sudden and unexpected death in epilepsy (SUDEP) represents the predominant cause of premature deaths in young adults with epilepsy and is more common with patients with poorly controlled and generalized convulsive seizures. It is reported that there are 1,16 cases for every 1000 subjects affected with epilepsy. This review takes stock of the current problems and issues in the autopsy of cases of sudden death with epileptic people. For this purpose, all the possible findings of post-mortem examinations reported in the literature were analyzed and summarized, which can currently be considered useful for autopsy diagnoses as well as in the comprehension of the physiopathology of SUDEP. The enormous limitation of forensic pathology studies is the complete lack of a specific SUDEP diagnostic marker. Only in a few cases was it possible to find pathological signs of the brain that would clarify epilepsy-related deaths. Genetic research has tracked down variants of neurocardiac genes of ion channels in a restricted percentage of suspected SUDEP cases. The actual pathogenicity test requires an in-depth statistical analysis in order to prove there is a real excess of variants and evidence that the mutation alters the function. Despite scientific efforts, it is often difficult to distinguish SUDEP from other causes of sudden death. For these reasons, it will be necessary to create an international standard SUDEP death scene investigation and postmortem examination protocols. Further future studies of immunohistochemistry or genetics may help and may facilitate post-mortem diagnosis in cases of presumed SUDEP.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/1091502
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