Review on post-mortem diagnosis in suspected SUDEP: Currently still a difficult task for Forensic Pathologists. (February 2020)

• Record Type: Journal Article
• Authors: Barranco, Rosario; Caputo, Fiorella; Molinelli, Andrea; Ventura, Francesco
• Is Part Of: Journal of forensic and legal medicine. Volume 70(2020)
• Publication Date: 2020-02
• Subjects: SUDEP -- Forensic pathology -- Autopsy -- Post-mortem diagnosis of SUDEP; Medical jurisprudence -- Periodicals; Forensic sciences -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Electronic journals; 614.1
• DOI: 10.1016/j.jflm.2020.101920
• Languages: English
• ISSNs: 1752-928X

Abstract

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. Highlights: The diagnosis of SUDEP remains a difficult task for the Forensic Pathologist. There is not a specific marker in cases of epilepsy-related deaths. Differential diagnosis between SUDEP and cardiovascular death can be very difficult. Circumstantial data and a complete autopsy are necessary in suspected SUDEP. Further studies of immunohistochemistry and genetics may help in diagnosis of SUDEP.