A patient with septo-optic dysplasia plus.
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.
Kwak
Jae Gyu
JG
Department of Neurology, Hallym University College of Medicine, Seoul, South Korea.
Jung
San
S
Kwon
Seok Beom
SB
Hwang
Sung Hee
SH
Lee
Byung Chul
BC
Kwon
Ki Han
KH
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