Septo-optic dysplasia syndrome: a case report

Abstract

Objective: Report a case of Septo-Optic Dysplasia Syndrome (SOD), a congenital disorder that fits into the midline brain malformations, whose incidence is considered rare worldwide. Case details: A female patient, 1 month and 10 days old, was taken for pediatric consultation in a southern city of Minas Gerais - Brazil, complaining of excessive eye movements. On examination, the infant presented vertical nystagmus, with no other alterations in the other systems. Cranial computed tomography scan did not show clearly the corpus callosum and the interhemispheric sickle. After ophthalmologic evaluation, reduced pupillary reflex was recorded in the right eye, with consensual reflex present; in addition to low vision, vertical nystagmus, transparent cornea and bilateral optic nerve hypoplasia. Later, magnetic resonance imaging showed hypoplasia of the right optic nerve and compatible findings with septum pellucidum agenesis. Based on the imaging and clinical findings, the diagnosis of SOD was confirmed and therapeutic measures, now directed to the correct management of the syndrome, were instituted. Final considerations: This case demonstrates a relevant clinical presentation of Septo-optic Dysplasia Syndrome in childhood, a rare neuropediatric pathology that still lacks a theoretical framework in the literature.