Title of article
West syndrome associated with mosaic Down syndrome
Author/Authors
Madoka Kajimoto، نويسنده , , Takashi Ichiyama، نويسنده , , Akiko Akashi، نويسنده , , Naoko Suenaga، نويسنده , , Hironori Matsufuji، نويسنده , , Susumu Furukawa، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2007
Pages
3
From page
447
To page
449
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
Keywords
West syndrome , Mosaic Down syndrome , chromosome
Journal title
Brain and Development
Serial Year
2007
Journal title
Brain and Development
Record number
495133
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