An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome
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DOI：
10.1016/j.braindev.2018.10.012
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发表时间：
2019-04-01
影响因子：
1.7
通讯作者：
Ohga, Shouichi
中科院分区：
文献类型：
--
作者：
Okuzono, Sayaka;Fukai, Ryoko;Ohga, Shouichi
背景资料。-心脏-面部-皮肤综合征(CFCs)是一种罕见的遗传性疾病，其特征是心血管异常、面部变形、外胚层异常和发育迟缓。BRAF和其他Ras-MAPK通路相关基因的突变通常在CFCs患者中被发现。虽然这一分子途径已知与神经炎性疾病有关，但到目前为止，只有一例CFCs患者被报告在儿童时期发展为急性脑病。病例报告：一名3岁男孩，具有畸形特征和轻度精神运动延迟，发展为急性脑病。在长达45分钟的全身性癫痫发作后，磁共振成像显示，在患病的第一天，受限的扩散信号扩散到了双侧皮质下白质。尽管接受了14天的重症监护，脑病的急性症状给他留下了顽固的癫痫和严重的神经认知障碍。全外显子测序分析证实该病例为BRAF(NM 004333：p.Thr241 Met)新生杂合子突变。结论：本病例提示ERK信号的过度活跃状态可能促进了儿童急性脑病和脑病后癫痫的发生。(C)2018年日本儿童神经病学学会。爱思唯尔出版，版权所有。
Background. - Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood.Case report: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy. After a 45-min long, generalized seizure, the magnetic resonance imaging revealed that the restricted diffusion signals spread to the bilateral subcortical white matters on day I of illness. Despite the 14 days of intensive care, the acute symptoms of encephalopathy left him intractable epilepsy and severe neurocognitive impairments. The whole-exome sequencing analysis identified a de novo heterozygous mutation of BRAF (NM 004333:p.Thr241Met) in this case.Conclusion: The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.