ABSTRACT:Septo-optic dysplasia (SOD) is a rare developmental disorder which comprises of clinical triadof midline brain abnormality, optic nerve hypoplasia and hypopituitarism. Diagnosis of this syndrome is clinical .However in recent times various genetic mutations have been found causing this syndrome complex like HESX1, OTX2, SOX3 and SOX2 , at the same time yield of genetic diagnosis in less than 1% .We report here, a caseof Septo-optic dysplasia, who presented with seizures and had pendularnystagmus with secondary optic atrophy in both eyes and absence of septum pellucidum on further evaluation..
Keywords: Septum pellucidum; Hypopituitarism; Optic atrophy
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