Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

被引：8

作者：

Hino-Fukuyo, Naomi ^{[1
,2
]}

Kikuchi, Atsuo ^{[2
]}

Iwasaki, Masaki ^{[3
]}

Sato, Yuko ^{[2
]}

Kubota, Yuki ^{[2
]}

Kobayashi, Tomoko ^{[2
]}

Nakayama, Tojo ^{[2
]}

Haginoya, Kazuhiro ^{[2
,4
]}

Arai-Ichinoi, Natsuko ^{[2
]}

Niihori, Tetsuya ^{[1
,5
]}

Sato, Ryo ^{[2
]}

Suzuki, Tasuku ^{[2
]}

Kudo, Hiroki ^{[2
]}

Funayama, Ryo ^{[6
]}

Nakayama, Keiko ^{[6
]}

Aoki, Yoko ^{[1
,5
]}

Kure, Shigeo ^{[2
]}

机构：

[1] Tohoku Univ Hosp, Ctr Genom Med, Sendai, Miyagi, Japan

[2] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi, Japan

[3] Natl Ctr Hosp Neurol & Psychiat, Dept Neurosurg, Kodaira, Tokyo, Japan

[4] Miyagi Childrens Hosp, Dept Neurol, Sendai, Miyagi, Japan

[5] Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan

[6] Tohoku Univ, Sch Med, United Ctr Adv Res & Translat Med, Div Cell Proliferat, Sendai, Miyagi, Japan

来源：

BRAIN & DEVELOPMENT | 2017年 / 39卷 / 04期

基金：

日本学术振兴会;

关键词：

COL4A1; Epileptic encephalopathy; Hemiplegia; Porencephaly; Infantile spasms; Functional hemispherectomy; COL4A1; MUTATIONS; HEMORRHAGE;

D O I：

10.1016/j.braindev.2016.11.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

引用

页码：337 / 340

页数：4