Septo-optic dysplasia: clinical spectrum

Septo-optic dysplasia is a rare congenital syndrome first described in 1941 by Reeves, which is diagnosed clinically by two or more features of the following classical triad: 1) optic nerve hypoplasia, 2) pituitary hormone abnormalities, and 3) midline brain defects, including agenesis of the septum pellucidum and/or corpus callosum. Our intent with this case report is to highlight the spectrum of clinical characteristics of septo-optic dysplasia and the significance of early recognition and intervention.