Exploring the diverse imaging spectrum of Septo-optic dysplasia: A case series

Abstract

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus. In this series, we present 3 different manifestations of SOD, including unilateral optic nerve hypoplasia and associated cortical malformations. Prompt clinical suspicion, supported by radiological imaging, is crucial for timely diagnosis and effective management of patients with this condition.