Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report

Abstract

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.

Keywords

• Septo-optic dysplasia
• Septum pellucidum
• Schizencephaly
• MRI