Mechanisms of Unexpected Death in Tuberous Sclerosis

    Volume 48, Issue 1 (January 2003)

    ISSN: 0022-1198

    CODEN: JFSOAD

    Published Online: 1 January 2003

    Page Count: 5


    Blumbergs, PC
    Institute of Medical & Veterinary Science, & University of Adelaide, Adelaide, South Australia

    James, RA
    Forensic Science Center, Adelaide,

    Byard, RW
    Forensic Science Center, Adelaide,

    (Received 9 July 2002; accepted 29 June 2002)

    Abstract

    Tuberous 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.


    Paper ID: JFS2002134

    DOI: 10.1520/JFS2002134

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    Author
    Title Mechanisms of Unexpected Death in Tuberous Sclerosis
    Symposium , 0000-00-00
    Committee E30