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伴有EIF2B3基因新突变的儿童共济失调伴中枢神经系统髓鞘形成低下病例

Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.

作者信息

Gowda Vykuntaraju K, Srinivasan Varun M, Bhat Maya, Benakappa Asha

机构信息

Department of pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

出版信息

J Pediatr Neurosci. 2017 Apr-Jun;12(2):196-198. doi: 10.4103/jpn.JPN_183_16.

DOI:10.4103/jpn.JPN_183_16
PMID:28904586
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5588653/
Abstract

A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on fluid-attenuated inversion recovery images. Clinical exome sequencing revealed a novel homozygous mutation c.1270T>G: pCys424Gly in exon 11 of the EIF2B3 gene. This novel mutation is reported in this article along with a literature review.

摘要

一名4岁男孩在病毒性发热后出现运动发育里程碑倒退。检查发现，该患儿肌张力增高，深腱反射亢进。脑部磁共振成像显示T2加权像上白质高信号，在液体衰减反转恢复序列图像上呈部分反转。临床外显子组测序显示EIF2B3基因第11外显子有一个新的纯合突变c.1270T>G：pCys424Gly。本文报告了这一新突变并进行了文献综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/ae5a60097e53/JPN-12-196-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/6643eaaefd47/JPN-12-196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/997d7658dfb0/JPN-12-196-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/ae5a60097e53/JPN-12-196-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/6643eaaefd47/JPN-12-196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/997d7658dfb0/JPN-12-196-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f257/5588653/ae5a60097e53/JPN-12-196-g003.jpg

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J Pediatr Genet. 2021 Sep;10(3):205-212. doi: 10.1055/s-0040-1714717. Epub 2020 Jul 27.
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Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.使用下一代测序技术分析消失性白质脑病与新型杂合EIF2B3变体之间的相关性：一例报告
Ann Rehabil Med. 2019 Apr;43(2):234-238. doi: 10.5535/arm.2019.43.2.234. Epub 2019 Apr 30.

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Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.由一种新型EIF2B3突变引起的成人起病型脑白质消失症
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