与5q14.3缺失相关的婴儿痉挛症。

Infantile spasms associated with 5q14.3 deletion.

作者信息

Marashly Ahmad, Riel-Romero Rosario Maria S, Ursin Susonne, Ghawi Hani

机构信息

Louisiana State University Health Sciences Center, Department of Pediatrics, School of Medicine, Shreveport, USA.

出版信息

J La State Med Soc. 2010 Jul-Aug;162(4):223-6.

PMID:20882816

Abstract

West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.

摘要

韦斯特综合征由婴儿痉挛症、高峰失律特征性脑电图（EEG）模式和发育迟缓三联征组成。婴儿痉挛症通常发生在1岁以内的婴儿身上。有不同的基因突变和综合征与婴儿痉挛症相关。我们报告了一名14个月大白人男孩的病例，他出现了婴儿痉挛症，并且被发现存在5q14.3缺失。