Evidence map›Paper›PMID 39762463›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

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

Yuanjing Sun, Ruihong Liu, Shujin Tang, Yuhua Fan, Jingjing Li

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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Yuanjing Sun *Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Ruihong Liu *Department of Clinical Laboratory, The Fifth Affiliated Hospital of Sun Yat-Sen University, Zhuhai, 519000, Guangdong, China.
Shujin TangDepartment of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.
Yuhua FanDepartment of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China. fanyuhua@mail.sysu.edu.cn.
Jingjing LiDepartment of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China. lijj7@mail.sysu.edu.cn.ORCID http://orcid.org/0000-0002-2747-6274

Funding

Basic and Applied Basic Research Foundation of Guangdong Province 2314050003660Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases 2020B1212060017National Natural Science Foundation of China 32000391National Natural Science Foundation of China 82071294the Southern China International Cooperation Base for Early Intervention and Functional Rehabilitation of Neurological Diseases 2015B050501003the Southern China International Cooperation Base for Early Intervention and Functional Rehabilitation of Neurological Diseases 2020A0505020004
6 · The paper itself

Abstract

BACKGROUND AND

objectivesVanishing 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.

methodsWe 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.

resultsA 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.

Indexed as

Eukaryotic Initiation Factor-2BLeukoencephalopathiesAdultHumansMagnetic Resonance ImagingMaleMutationEukaryotic Initiation Factor-2BAdult onsetCompound heterozygous mutationsEIF2B2Vanishing white matter disease

Identifiers

PMID39762463

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