Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

被引：12
|
作者：
Saito, Yoshiaki [1 ]
Kubota, Masaya [2 ]
Kurosawa, Kenji [3 ]
Ichihashi, Izumi [4 ]
Kaneko, Yuu [5 ]
Hattori, Ayako [1 ]
Komaki, Hirofumi [1 ]
Nakagawa, Eiji [1 ]
Sugai, Kenji [1 ]
Sasaki, Masayuki [1 ]
机构：
[1] Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Child Neurol, Tokyo 1878551, Japan
[2] Natl Ctr Child Hlth & Dev, Div Neurol, Tokyo, Japan
[3] Kanagawa Childrens Med Ctr, Clin Res Inst, Div Med Genet, Kanagawa, Japan
[4] Takatsu Cent Hosp, Dept Pediat, Kawasaki, Kanagawa, Japan
[5] Natl Ctr Neurol & Psychiat, Dept Neurosurg, Tokyo 1878551, Japan
来源：
BRAIN & DEVELOPMENT | 2011年 / 33卷 / 05期
关键词：
Bilateral perisylvian polymicrogyria; Microdeletion; West syndrome; MONOSOMY; 1P36; ABNORMALITIES; DELINEATION; EPILEPSY;
D O I：
10.1016/j.braindev.2010.07.004
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome I derived from parental balanced translocation with a karyoptype of 46,XY,der(1)41;4)(p36.23;q35) was detected. Fluorescent in sine hybridization analysis confirmed the deleted region of 1p36 as large as 8.6 Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码：437 / 441
页数：5
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