title: West syndrome associated with mosaic Down syndrome.
abstract: We report a girl with West syndrome associated with mosaic Down syndrome. She had repetitive tonic spasms at 6 months and an electroencephalography (EEG) showed hypsarrhythmia. Her facial appearance was normal and she had no minor anomalies. Her karyotype was mosaic(46,XX/47,XX,+21). Adrenocorticotropin (ACTH) therapy was effective, and her developmental quotient was 76 at 17 months. This report re-emphasize that chromosomal analysis is recommended for epileptic patients with infantile onset when the cause is unclear.
authors.affiliation: Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan. h003uc@yamaguchi-u.ac.jp
authors.forename: Madoka
authors.initials: M
authors.lastname: Kajimoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Ichiyama
authors.forename: Akiko
authors.initials: A
authors.lastname: Akashi
authors.forename: Naoko
authors.initials: N
authors.lastname: Suenaga
authors.forename: Hironori
authors.initials: H
authors.lastname: Matsufuji
authors.forename: Susumu
authors.initials: S
authors.lastname: Furukawa
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D009030:Mosaicism; D013036:Spasms, Infantile / Q000188:drug therapy / Q000209:etiology*
chemical_list: D000927:Anticonvulsants; D006728:Hormones; D000324:Adrenocorticotropic Hormone