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

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dc.contributor.authorGilbert, J.
dc.contributor.authorScott, G.
dc.contributor.authorByard, R.
dc.date.issued2001
dc.description.abstractA 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.
dc.identifier.citationJournal of Forensic Sciences, 2001; 46(4):913-915
dc.identifier.doi10.1520/jfs15068j
dc.identifier.issn0022-1198
dc.identifier.issn1556-4029
dc.identifier.orcidByard, R. [0000-0002-0524-5942]
dc.identifier.urihttp://hdl.handle.net/2440/32701
dc.language.isoen
dc.publisherAmer Soc Testing Materials
dc.source.urihttps://doi.org/10.1520/jfs15068j
dc.subjectSeptum Pellucidum
dc.subjectHumans
dc.subjectIntestinal Diseases
dc.subjectOptic Nerve Diseases
dc.subjectAdrenal Gland Diseases
dc.subjectSyndrome
dc.subjectAutopsy
dc.subjectCause of Death
dc.subjectAdult
dc.subjectFemale
dc.titleSepto-optic dysplasia and unexpected adult death - An autopsy approach
dc.typeJournal article
pubs.publication-statusPublished

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