title: [Three cases of Costello syndrome presenting with intractable epilepsy and profound psychomotor retardation/regression].
abstract: We report three cases of Costello syndrome (CS) presenting with intractable epilepsy and profound psychomotor retardation/regression. Previous reports on CS described mild to moderate psychomotor retardation, and epilepsy in only 8% of the cases. The details of these neurological complications have not been reported so far. All the present cases had intractable epilepsies and profound psychomotor retardation/regression. Two of them had symptomatic localization-related epilepsies and the other had Lennox-Gastaut syndrome following West syndrome. Unusual complication of profound psychomotor retardation/regression in our cases seems to be caused by intractable epilepsy. It should be noted that CS patients with epilepsy may have more severe central nervous symptoms than those previously reported.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo.
authors.forename: Y
authors.initials: Y
authors.lastname: Fujikawa
authors.forename: K
authors.initials: K
authors.lastname: Sugai
authors.forename: M
authors.initials: M
authors.lastname: Fukumizu
authors.forename: S
authors.initials: S
authors.lastname: Hanaoka
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Kaga
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis*; D013577:Syndrome