Septo-optic dysplasia and unexpected adult death - An autopsy approach

A 20-year-old woman who suffered from septo-optic dysplasia died unexpected ly following a presumed viral gastroenteritis. Autopsy and neuropathologica l examination confirmed optic nerve hypoplasia with absence of the septum p ellucidum. Marked adrenal gland hypoplasia reflected hypothalamic hypopitui tarism. The small and large intestines were dilated and filled with liquid fecal material. This case demonstrates that individuals with septo-optic dy splasia may be at risk of unexpected death at all ages. The complexity of m echanisms of death in rare dysmorphic conditions may be overlooked if relev ant clinical information is not available at the time of autopsy and unless specific steps are taken to clearly delineate the underlying features of t he condition.