Septo-Optic Dysplasia

Abstract

Septo-optic dysplasia (de Morsier syndrome) is a rare intracranial malformation characterized by the absence of the septum pellucidum with optic disk hypoplasia. Associated clinical symptoms include hypothalamic-pituitary dysfunction and varying degrees of visual impairment. Although the exact etiopathology is unknown, some researchers postulate that septo-optic dysplasia is the result of a vascular disruption sequence, an environmental anomaly, an autosomal-recessive inheritance, or a genetic abnormality. The associated intracranial malformations with septo-optic dysplasia are agenesis of the corpus callosum, schizencephaly, and lobar holoprosencephaly. To detect septo-optic dysplasia and its associated anomalies, sonographers must scan beyond the routine axial views in utero as well as the standard, neonatal axial, coronal, and sagittal views.