title: Septo-optic dysplasia and unexpected adult death--an autopsy approach.
abstract: 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.
authors.affiliation: Forensic Science Centre, Adelaide, Australia.
authors.forename: J D
authors.initials: JD
authors.lastname: Gilbert
authors.forename: G
authors.initials: G
authors.lastname: Scott
authors.forename: R W
authors.initials: RW
authors.lastname: Byard
mesh_terms: D000307:Adrenal Gland Diseases / Q000473:pathology; D000328:Adult; D001344:Autopsy; D002423:Cause of Death; D005260:Female; D006801:Humans; D007410:Intestinal Diseases / Q000473:pathology; D009901:Optic Nerve Diseases / Q000473:pathology*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome