Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy)

Wick, Regula; Scott, Grace; Byard, Roger W (2007). Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy). Journal of forensic and legal medicine, 14(1), pp. 42-5. Oxford: Elsevier

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A 21-year-old previously-well woman who was undergoing medical investigations for problems with balance and suspected multiple sclerosis, developed a headache and breathing difficulties, and died suddenly and unexpected at home. The autopsy was unremarkable except for pulmonary and cerebral oedema. However, subsequent microscopy of the brain revealed characteristic features of Leigh syndrome with multifocal areas of astrogliosis, capillary proliferation, and parenchymal vacuolation. While Leigh syndrome is more commonly diagnosed in infancy, manifestations may occur throughout early life into adulthood. Sudden and unexpected death is a rare presentation that may be associated with cerebral necrosis and oedema. An awareness of the variable manifestations of Leigh syndrome is necessary in forensic practice as not all cases will present in a typical manner and sudden death may occur before a diagnosis has been established. The heritable nature of this condition makes accuracy of diagnosis essential.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Service Sector > Institute of Legal Medicine
UniBE Contributor:	Wick, Regula
ISSN:	1752-928X
ISBN:	16488174
Publisher:	Elsevier
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:56
Last Modified:	05 Dec 2022 14:17
PubMed ID:	16488174
Web of Science ID:	000086926500008
URI:	https://boris.unibe.ch/id/eprint/23916 (FactScience: 45136)