title: Septo-optic dysplasia with infantile spasms.
abstract: A 21-month-old boy with septo-optic dysplasia and infantile spasms is reported. Eighteen hours after birth he had generalized convulsions, dyspnea, and hypoglycemia which were followed by recurrent clonic seizures despite administration of phenobarbital and valproic acid. At 16 months of age he had hypoglycemia and apnea attacks during varicella infection. At 19 months of age left hemiconvulsions and left hemiparesis occurred; his mental and motor development, which had been delayed but progressive, deteriorated. Tonic spasms appeared at 21 months of age and electroencephalography revealed multifocal spikes. At 27 months of age electroencephalography disclosed hypsarrhythmia. Cranial computed tomography depicted brain atrophy, right microphthalmia, and intact septum pellucidum. Magnetic resonance imaging demonstrated hypoplasia of the corpus callosum and a small pituitary gland. Coloboma of the right optic disc was detected. Physical examination revealed short stature, left hemiparesis, micropenis, and cryptorchidism. Endocrinologic loading tests revealed hypofunction of the hypophysial anterior lobe.
authors.affiliation: Department of Pediatrics, Fukui Medical School, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: Y
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: K
authors.initials: K
authors.lastname: Konishi
authors.forename: Y
authors.initials: Y
authors.lastname: Konishi
authors.forename: M
authors.initials: M
authors.lastname: Sudo
authors.forename: S
authors.initials: S
authors.lastname: Haruki
authors.forename: H
authors.initials: H
authors.lastname: Ito
mesh_terms: D004702:Endocrine Glands / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013036:Spasms, Infantile / Q000150:complications*