B-19: Case Report of Adult Outcome of Septo-Optic Dysplasia Plus Syndrome

Abstract

Objective: Septo-optic dysplasia (SOD) is a rare clinical syndrome requiring at least two of the following features: optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. Additionally, cortical dysplasia involves malformation of cortical structures, often causing focal epilepsy. Individuals with both dysplasias present (septo-optic dysplasia plus syndrome) may experience a greater likelihood of developmental delays and intellectual disabilities or require long-term support to assist with activities of daily living (ADLs). Further research may be warranted to address long-term care needs of individuals with these syndromes. Method/Data Selection: We present the case of a 30-year-old, Black/African American, right-handed male, placed in special education from early childhood through high school. He was born prematurely with cytomegalovirus (CMV), and has a history of hypospadias, a large facial lesion, epilepsy, and bifrontal cortical dysplasia. He presented for outpatient neuropsychological evaluation due to possible cognitive or behavioral decline. MRI showed bilateral colpocephaly and agenesis of the septum pellucidum with hypoplastic prechiasmatic optic nerves, optic chiasm, and optic tracts. Additionally, there was evidence of hypoplasia of the corpus callosum with visualization of only the body in addition to other structural abnormalities (e.g., localized atrophy, polymicrogyria). Results/Data Synthesis: The patient displayed impairments in visual perception, processing speed, intellectual functioning, and adaptive functioning. Conclusions: This case illustrates adult outcome of congenital abnormalities associated with SOD plus syndrome with long-term care needs extending into adulthood. The case further highlights the common observation that congenital brain abnormalities often do not occur in isolation owing to the period of in utero development in which dysgenesis occurs.