Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation
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DOI：
10.1016/j.braindev.2012.05.002
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发表时间：
2013-03-01
影响因子：
1.7
通讯作者：
Saitsu, Hirotomo
中科院分区：
文献类型：
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作者：
Nonoda, Yutaka;Saito, Yoshiaki;Saitsu, Hirotomo
一名1岁的男性在3个月大时开始患有韦斯特综合征，当时脑电图显示伴有周期性短暂抑制期的心律失常。给予促肾上腺皮质激素对停止病情部分有效，6个月时癫痫发作类型演变为短暂的强直性癫痫发作。此后，到9月龄时，大脑的进行性萎缩变得明显，主要是在脑干和小脑。在1岁时发现大脑白色物质的严重髓鞘形成不足，并且证实了SPTAN 1基因的新生杂合突变。患者表现出严重的精神发育障碍，并且没有获得视觉注意力。这些发现有助于表征这一最近建立的实体，并促进进一步的患者的识别。(C)2012年日本儿童神经病学学会。Elsevier B.V.出版，保留所有权利。
A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6 months. Thereafter, progressive atrophy of the brain became evident by 9 months of age, predominantly at the brainstem and cerebellum. Severe hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed. The patient showed severely impaired psychomotor development, and had gained no visual attention. These findings contribute to the characterization of this recently established entity and facilitate the identification of further patients. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.