Uncommon Presentation of Septo-Optic Dysplasia: Case Report

Abstract

Septo-optic dysplasia (SOD) is a rare developmental disorder with an incidence of 1 in 10,000. 1 It comprises of clinical trial of midline brain abnormality, optic nerve hypoplasia and hypopituitarism. Diagnosis of this syndrome is clinical with equal occurrence rate in both the sexes .However in recent times various genetic mutations have been found causing this syndrome complex like HESX 1 , OTX 2 , SOX 3 and SOX 2 , at the same time yield of genetic diagnosis in less than 1% .We report here two unique cases of Septo-optic dysplasia, first with late presentation with multiple pituitary hormone deficiency and the second with normal pituitary functions and associated infantile obesity.