Volume 46, Issue 4 (July 2001)

    Septo-Optic Dysplasia and Unexpected Adult Death—An Autopsy Approach

    (Received 8 August 2000; accepted 25 September 2000)


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    A 20-year-old woman who suffered from septo-optic dysplasia died unexpectedly following a presumed viral gastroenteritis. Autopsy and neuropathological examination confirmed optic nerve hypoplasia with absence of the septum pellucidum. Marked adrenal gland hypoplasia reflected hypothalamic hypopituitarism. The small and large intestines were dilated and filled with liquid fecal material. This case demonstrates that individuals with septo-optic dysplasia may be at risk of unexpected death at all ages. The complexity of mechanisms of death in rare dysmorphic conditions may be overlooked if relevant clinical information is not available at the time of autopsy and unless specific steps are taken to clearly delineate the underlying features of the condition.

    Author Information:

    Scott, G
    Institute of Medical and Veterinary Science, Adelaide,

    Gilbert, JD
    Forensic Science Centre, Adelaide,

    Byard, RW
    Forensic Science Centre, Adelaide,

    Stock #: JFS15068J

    ISSN: 0022-1198

    DOI: 10.1520/JFS15068J

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    Title Septo-Optic Dysplasia and Unexpected Adult Death—An Autopsy Approach
    Symposium , 0000-00-00
    Committee E30