Septo-Optic Dysplasia Plus Syndrome : A Case Report

Abstract

Septo-optic dysplasia (SOD) is a neurodevelopmental disorder characterised by optic nerve and septum pellucidum dysgenesis as cardinal features. When septo-optic dysplasia occurs with other anomalies such as schizencephaly or callosal dysgenesis, it is called Septo-optic dysplasia plus syndrome. We report a case of 3 year old male patient who presented with global development delay and left sided weakness. Neurological examination revealed left hemiparesis and ophtalmological evaluation revealed right optic disc hypoplasia. The magnetic resonance imaging (MRI) showed absence of the septum pellucidum with right optic nerve and optic chiasma hypotrophy, bilateral open lip schizencephaly and polymicrogyria. On the basis of typical imaging findings, septooptic dysplasia-plus syndrome was implied as diagnosis. Despite major advances in diagnostic modalities including genetic studies, SOD still represent diagnostic challenges due to multifactorial and heterogeneous nature of the disorder. A life long multidisciplinary approach is helpful in management of these patients to optimise their growth and development