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West syndrome associated with mosaic Down syndrome.

作者信息

Kajimoto Madoka, Ichiyama Takashi, Akashi Akiko, Suenaga Naoko, Matsufuji Hironori, Furukawa Susumu

机构信息

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan.

出版信息

Brain Dev. 2007 Aug;29(7):447-9. doi: 10.1016/j.braindev.2006.12.006. Epub 2007 Feb 20.

DOI:10.1016/j.braindev.2006.12.006
PMID: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.

摘要

相似文献

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引用本文的文献

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Epileptic spasms in individuals with Down syndrome: A review of the current literature.唐氏综合征患者的癫痫性痉挛：当前文献综述
Epilepsia Open. 2020 Jun 30;5(3):344-353. doi: 10.1002/epi4.12412. eCollection 2020 Sep.