Mechanisms of unexpected death in tuberous sclerosis

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dc.contributor.authorByard, R.
dc.contributor.authorBlumbergs, P.
dc.contributor.authorJames, R.
dc.date.issued2003
dc.description.abstractTuberous sclerosis complex is a protean autosomal dominant disorder characterized by multifocal tissue lesions arising from defects in cellular migration, proliferation, and differentiation. It has an association with sudden death. In the current study, review of all cases of sudden death due to tuberous sclerosis was undertaken at the Forensic Science Centre in Adelaide, Australia from 1991 to 2001, in addition to an analysis of cases from the literature. There were two local cases where unexpected death had occurred in individuals with known tuberous sclerosis, involving a 31-year-old male (epilepsy), and a 24-year-old female (massive hemorrhage into a renal angiomyolipoma). Fatal mechanisms in cases of tuberous sclerosis may be associated with underlying cardiovascular, renal and cerebral abnormalities. Sudden death may be due to cardiac arrhythmia, epilepsy, and intra-tumoral hemorrhage with additional complications including cardiac outflow obstruction, obstructive hydrocephalus, aneurysm rupture, and spontaneous pneumothorax. An awareness of the highly variable tissue manifestations of tuberous sclerosis and the mechanisms that may be responsible for death is necessary to establish correctly the diagnosis in occult cases (possibly with molecular confirmation), and to chart accurately organ changes in individuals with established disease.
dc.identifier.citationJournal of Forensic Sciences, 2003; 48(1):172-176
dc.identifier.doi10.1520/jfs2002134
dc.identifier.issn0022-1198
dc.identifier.issn1556-4029
dc.identifier.orcidByard, R. [0000-0002-0524-5942]
dc.identifier.urihttp://hdl.handle.net/2440/32722
dc.language.isoen
dc.publisherAmer Soc Testing Materials
dc.source.urihttps://doi.org/10.1520/jfs2002134
dc.subjectHumans
dc.subjectTuberous Sclerosis
dc.subjectDeath, Sudden
dc.subjectAdult
dc.subjectFemale
dc.subjectMale
dc.titleMechanisms of unexpected death in tuberous sclerosis
dc.typeJournal article
pubs.publication-statusPublished

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