title: [Electroencephalographic changes in sisters with infantile-onset dentatorubral-pallidoluysian atrophy (DRPLA)].
abstract: We report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA). Typical development was seen until the age of 6 months. From that age, however, development was delayed. The elder sister experienced astatic seizure at the age of 3 years. She began to deteriorate and had difficulty in controlling her body movement at the age of 3 years and 7 months. Magnetic resonance imaging revealed marked cerebellar atrophy and genetic analysis of the DRPLA gene led to a diagnosis of DRPLA. Repeat size of the CAG base sequence was 86/19. Neurological deterioration was rapid and controlling convulsions using antiepileptic drugs was difficult. EEG was characterized by high-voltage slow waves and poor development of basic wave through the follow-up period. In contrast, the younger sister showed only mild developmental delay, and could stand independently at the 2 years and 9 months. Repeat size of the CAG base sequence was 79/11. Myoclonic seizures developed at 4 years and 7 months, but have been well controlled using sodium valproate. EEG showed diffuse 3-4 Hz spike-and-wave complexes that were rather different from the findings in her elder sister.
authors.affiliation: Department of Pediatrics, Otokoyama Hospital, Kansai Medical University, Yawata, Kyoto. miyazakr@otokoyam.kmu.ac.jp
authors.forename: Rika
authors.initials: R
authors.lastname: Hashi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nakamura
authors.forename: Tateo
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Kazunari
authors.initials: K
authors.lastname: Kaneko
mesh_terms: D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography; D005260:Female; D006801:Humans; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics / Q000503:physiopathology*