A 10-year-old boy presented with mild mental retardation, growth delay, and congenital left microphthalmia. An endocrinologic workup confirmed growth-hormone deficiency. Figures 1 and 2 are computed tomograms of the brain obtained at admission.
Denouement and Discussion
Septo-optic Dysplasia (De Morsier Syndrome)
Septo-optic dysplasia (SOD) was first described by De Morsier in 1956.1 It is characterized by optic nerve hypoplasia in conjunction with dysgenesis of the septum pellucidum. Nearly two thirds of patients with SOD have hypothalamic-pituitary dysfunction and half have schizencephaly.2-5 Barkovich and Norman5 classified SOD into two distinct anatomic subsets. One subset was associated with schizencephaly, normal-sized ventricles, a normal optic radiation, and a remnant of the septum pellucidum. Affected patients tended to present with seizures and/or visual symptoms. The other subset did not have schizencephaly but exhibited diffuse white-matter hypoplasia involving optic radiation with complete absence of the septum pellucidum and ventriculomegaly. Affected patients presented with symptoms of hypothalamicpituitary dysfunction and visual disturbance.6 This patient belongs to the second subset.
Lau KY, Tam W, Lam PKL, Wood BP. SPECIAL FEATURE. Am J Dis Child. 1993;147(1):71-72. doi:10.1001/archpedi.1993.02160250073022