Sudden Death in the Septo-Optic Dysplasia Spectrum

Abstract

Septo-optic dysplasia (SOD) is a rare entity in which a variable spectrum of brain abnormalities, classically involving midline structures septum pellucidum (SP) and/or corpus callosum (CC) are associated with optic nerve hypoplasia (ONH) and hypothalamic-pituitary dysfunction. Sudden unexpected death (SUD) in the setting of SOD is recognized but there is a paucity of postmortem studies of this patient population. A retrospective clinicopathological analysis of seven autopsy cases of pediatric patients (ages: ten weeks to 17 years) with SOD was performed. Six patients were found vital signs absent at home. The seventh child was admitted to the hospital in shock, and died after being maintained on life support for 16 days. At autopsy, in all cases there were central nervous system (CNS) abnormalities and stigmata of panhypopituitarism (PHP), confirming the underlying diagnosis of SOD. Infectious or other acute pathological processes to account for sudden death were not identified. Forensic pathologists need to be aware of SOD because it predisposes to SUD and an appreciation of the underlying neuroendocrine complexities of the disorder is required for proper death certification.