Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/51151
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Type: Journal article
Title: Sudden death and the forensic evaluation of neurocutaneous syndromes
Author: Jensen, L.
Heath, K.
Scott, G.
Byard, R.
Citation: Journal of Forensic and Legal Medicine, 2009; 16(7):369-374
Publisher: Churchill Livingstone
Issue Date: 2009
ISSN: 1752-928X
1878-7487
Statement of
Responsibility: 
Lisbeth Jensen, Karen J. Heath, Grace Scott and Roger W. Byard
Abstract: On occasion the forensic evaluation of individuals who have died suddenly and unexpectedly may reveal intracranial vascular abnormalities such as capillary, venous- and arteriovenous malformations. Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems. These unusual conditions include Sturge–Weber, Osler–Weber–Rendu, Klippel–Trenaunay, Von Hippel-Lindau, Proteus and Wyburn-Mason syndromes in addition to ataxia telangiectasia. Causes and mechanisms of unexpected death include epileptic seizures, intracranial haemorrhage and thromboses. Differentiating these conditions at autopsy is important because of variable inheritance patterns and occasionally inaccurate clinical classifications. The autopsy evaluation requires review of the medical and family histories, and full external and internal examinations with photographic documentation and histologic sampling of lesions. Formal neuropathology, storage of blood and tissues for molecular studies if required, and liaison with a medical geneticist should be considered
Keywords: Neurocutaneous syndromes; Sudden death; Sturge–Weber; Osler–Weber–Rendu; Klippel–Trenaunay–Weber
Rights: Copyright © 2009 Elsevier Ltd and Faculty of Forensic and Legal Medicine Published by Elsevier B.V.
RMID: 0020091397
DOI: 10.1016/j.jflm.2009.04.004
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/711392/description#description
Appears in Collections:Pathology publications

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