West syndrome associated with mosaic Down syndrome.
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.
Kajimoto
Madoka
M
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan. h003uc@yamaguchi-u.ac.jp
Ichiyama
Takashi
T
Akashi
Akiko
A
Suenaga
Naoko
N
Matsufuji
Hironori
H
Furukawa
Susumu
S
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*
D000927:Anticonvulsants; D006728:Hormones; D000324:Adrenocorticotropic Hormone