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  • Title: West syndrome associated with mosaic Down syndrome.
    Author: Kajimoto M, Ichiyama T, Akashi A, Suenaga N, Matsufuji H, Furukawa S.
    Journal: Brain Dev; 2007 Aug; 29(7):447-9. PubMed ID: 17307326.
    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.
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