title: Septo-Optic Dysplasia: A Case Study.
abstract: Septo-optic dysplasia (SOD) is a rare congenital heterogeneous malformation. SOD was formerly known as de Morsier syndrome, which associated a midline brain defect such as an absent septum pellucidum with optic nerve hypoplasia. The diagnosis of SOD is made when there are two or more characteristics of the classic triad. The triad consists of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects, although it can vary in the severity of clinical presentation and phenotype. The purpose of this article is to review a case and analyze the literature regarding prevalence, etiology, clinical presentation, diagnosis, and management of SOD.
authors: Jamie M
authors: JM
authors: Musgrove
authors: Cheryl
authors: C
authors: Riley
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D005938:Glucocorticoids / Q000008:administration & dosage; D020249:Hormone Replacement Therapy / Q000379:methods; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D009900:Optic Nerve / Q000002:abnormalities / Q000000981:diagnostic imaging; D010907:Pituitary Hormones / Q000097:blood; D025962:Septo-Optic Dysplasia / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy
chemical_list: D005938:Glucocorticoids; D010907:Pituitary Hormones; D019382:Human Growth Hormone; D006854:Hydrocortisone