title: MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome.
abstract: Two patients with oculocerebrorenal syndrome are described. Both had abnormal findings on electroencephalography and developed seizure episodes. Although Patient 2 manifested abnormal electroencephalographic findings at the age of 6 years, he did not develop seizures until the age of 9 years. Phenytoin was effective for controlling seizures in both patients. On magnetic resonance examination, there were two different types of lesions. The first lesion manifested high intensity on both T2- and proton density-weighted images, suggesting gliosis or demyelination. The second lesion manifested definitely low signals on both T1- and proton density-weighted images, implying a cystic lesion. However, these lesions on magnetic resonance examination were not correlated with the severity of clinical manifestations.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Osaka University, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: K
authors.initials: K
authors.lastname: Harada
authors.forename: T
authors.initials: T
authors.lastname: Mano
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000293:Adolescent; D002648:Child; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis*; D012640:Seizures / Q000175:diagnosis* / Q000188:drug therapy