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Type: Journal article
Title: Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy)
Author: Wick, R.
Scott, G.
Byard, R.
Citation: Journal of Forensic and Legal Medicine, 2007; 14(1):42-45
Publisher: Churchill Livingstone
Issue Date: 2007
ISSN: 1752-928X
Statement of
Regula Wick, Grace Scott and Roger W. Byard
Abstract: 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.
Keywords: Capillaries; Brain; Vacuoles; Humans; Pulmonary Edema; Leigh Disease; Brain Edema; Death, Sudden; Gliosis; Microscopy; Forensic Pathology; Adult; Female
Description: Copyright © 2006 Elsevier Ltd and AFP All rights reserved.
RMID: 0020073968
DOI: 10.1016/j.jcfm.2006.01.002
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Appears in Collections:Pathology publications

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