Journal Published Online: 01 July 2001
Volume 46, Issue 4

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



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

Gilbert, JD
Forensic Science Centre, Adelaide, Australia
Scott, G
Institute of Medical and Veterinary Science, Adelaide, Australia
Byard, RW
Forensic Science Centre, Adelaide, Australia
Pages: 3
Price: $25.00
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Stock #: JFS15068J
ISSN: 0022-1198
DOI: 10.1520/JFS15068J