Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.

IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY
Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2025-01-07 DOI:10.1007/s10072-025-07990-6
Yuanjing Sun, Ruihong Liu, Shujin Tang, Yuhua Fan, Jingjing Li
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引用次数: 0

Abstract

Background and objectives: Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.

Methods: We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.

Results: A 40-year-old male patient presented with difficulty walking and leg pain. Neurological examination revealed acalculia, slow reaction times, and ataxia. Magnetic resonance imaging (MRI) scans showed diffuse, symmetric lesions with cerebrospinal fluid-like signals predominantly in the subcortical, periventricular, and cerebellar white matter. Genetic testing identified a compound heterozygous mutation in EIF2B2, consisting of a novel nonsense mutation (c.378 T > G, p.Tyr126*) and a reported missense mutation (c.818A > G, p.Lys273Arg) (NM_014239.4).

Discussions: This report highlights the diverse phenotypic manifestations of VWMD and underscores the importance of considering EIF2B2 mutations in adult male patients with bilaterally symmetric hyperintensities in white matter and slowly progressive symptoms.

由一种新的复合杂合EIF2B2突变引起的成人发病的消失性白质病:一例报告和简要回顾
背景和目的:消失白质病(VWMD)是一种常染色体隐性白质脑病,由EIF2B1-5基因突变引起,在成人中罕见。我们提出了一例成人发病的VWMD与一个新的EIF2B2突变。方法:收集患者的临床资料、脑脊液(CSF)结果、实验室检查、影像学特征、遗传分析以及4年的随访资料。结果:一名40岁男性患者表现为行走困难和腿部疼痛。神经学检查显示失算、反应缓慢和共济失调。磁共振成像(MRI)扫描显示弥漫性、对称性病变,脑脊液样信号主要出现在皮质下、脑室周围和小脑白质。基因检测在EIF2B2中发现了一个复合杂合突变,包括一个新的无义突变(c.378)T > G, p.Tyr126*)和报道的错义突变(c.818A > G, p.Lys273Arg) (NM_014239.4)。讨论:本报告强调了VWMD的多种表型表现,并强调了在白质双侧对称高信号且症状缓慢进展的成年男性患者中考虑EIF2B2突变的重要性。
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来源期刊
Neurological Sciences
Neurological Sciences 医学-临床神经学
CiteScore
6.10
自引率
3.00%
发文量
743
审稿时长
4 months
期刊介绍: Neurological Sciences is intended to provide a medium for the communication of results and ideas in the field of neuroscience. The journal welcomes contributions in both the basic and clinical aspects of the neurosciences. The official language of the journal is English. Reports are published in the form of original articles, short communications, editorials, reviews and letters to the editor. Original articles present the results of experimental or clinical studies in the neurosciences, while short communications are succinct reports permitting the rapid publication of novel results. Original contributions may be submitted for the special sections History of Neurology, Health Care and Neurological Digressions - a forum for cultural topics related to the neurosciences. The journal also publishes correspondence book reviews, meeting reports and announcements.
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