A patient with Muenke syndrome manifesting migrating neonatal seizures

被引：6

作者：

Okubo, Yukimune ^{[1
]}

Kitamura, Taro ^{[2
]}

Anzai, Mai ^{[1
]}

Endo, Wakaba ^{[1
]}

Inui, Takehiko ^{[1
]}

Takezawa, Yusuke ^{[1
,2
]}

Suzuki-Muromoto, Sato ^{[1
]}

Miyabayashi, Takuya ^{[1
]}

Togashi, Noriko ^{[1
]}

Oba, Hiroshi ^{[3
]}

Saitsu, Hirotomo ^{[4
,5
]}

Matsumoto, Naomichi

Haginoya, Kazuhiro ^{[1
]}

机构：

[1] Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi, Japan

[2] Sendai City Hosp, Dept Pediat, Sendai, Miyagi, Japan

[3] Teikyo Univ Hosp, Dept Radiol, Tokyo, Japan

[4] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

[5] Hamamatsu Univ, Sch Med, Dept Biochem, Shizuoka, Japan

来源：

BRAIN & DEVELOPMENT | 2017年 / 39卷 / 10期

基金：

日本学术振兴会; 日本科学技术振兴机构;

关键词：

Muenke syndrome; FGFR3; Neuroimaging; MRI; Temporal lobe dysgenesis; TEMPORAL-LOBE DYSGENESIS; HYPOCHONDROPLASIA;

D O I：

10.1016/j.braindev.2017.05.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable. Results from this and previous studies failed to support the notion that FGFR3 (P250) mutation results in epileptic encephalopathy. (C) 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

引用

页码：873 / 876

页数：4

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