title: A patient with septo-optic dysplasia plus.
abstract: Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum, and pituitary-hypothalamic dysfunction such as growth hormone deficiency. The phenotype is highly variable and the clinical presentation may be mild or extremely severe. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD-plus), consist of significant generalized developmental delay and/or spastic motor deficits. We report a case of SOD-plus with mild cortical dysplasia which was revealed to be thickening of bilateral insular cortex without schizencephaly by MRI, and there was no sign or symptom of cortical dysfunction except for one episode of brief seizure.
authors.affiliation: Department of Neurology, Hallym University College of Medicine, Seoul, South Korea.
authors.forename: Jae Gyu
authors.initials: JG
authors.lastname: Kwak
authors.forename: San
authors.initials: S
authors.lastname: Jung
authors.forename: Seok Beom
authors.initials: SB
authors.lastname: Kwon
authors.forename: Sung Hee
authors.initials: SH
authors.lastname: Hwang
authors.forename: Byung Chul
authors.initials: BC
authors.lastname: Lee
authors.forename: Ki Han
authors.initials: KH
authors.lastname: Kwon
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009759:Nystagmus, Pathologic / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D009900:Optic Nerve / Q000002:abnormalities*; D012640:Seizures / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D025962:Septo-Optic Dysplasia / Q000175:diagnosis* / Q000503:physiopathology; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome; D015354:Vision, Low / Q000209:etiology / Q000473:pathology / Q000503:physiopathology