title: Hemimegalencephaly in a patient with coexisting trisomy 21 and hypomelanosis of Ito.
abstract: A male infant with trisomy 21 simultaneously showed clinical features of hypomelanosis of Ito and hemimegalencephaly, with related intractable epileptic seizures. The epileptic seizures were refractory to conventional antiepileptic drugs and persisted until the patient underwent functional hemispherotomy. It is well known that patients with hypomelanosis of Ito may also have cortical dysplasia and hemimegalencephaly and that approximately half of these patients have chromosomal abnormalities. However, to our knowledge, there is no previous report of a patient with trisomy 21 associated with hemimegalencephaly. Here, we describe a rare case of coexisting trisomy 21 and hypomelanosis of Ito, associated with hemimegalencephaly.
authors.affiliation: 1Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Okanari
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyahara
authors.forename: Masayuki
authors.initials: M
authors.lastname: Itoh
authors.forename: Akio
authors.initials: A
authors.lastname: Takahashi
authors.forename: Koichi
authors.initials: K
authors.lastname: Aizaki
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Taisuke
authors.initials: T
authors.lastname: Otsuki
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Izumi
mesh_terms: D000005:Abdomen / Q000473:pathology; D001921:Brain / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D004314:Down Syndrome / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D004569:Electroencephalography; D006801:Humans; D017496:Hypopigmentation / Q000150:complications* / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D012640:Seizures / Q000209:etiology / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D013909:Thorax / Q000473:pathology