Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report-Reference-Cited by-同舟云学术

Leukoencephalopathy with vanishing white matter caused by EIF2B5 gene mutations: a case report

Published:2021-11-04 Issue:3 Volume:16 Page:69-74
ISSN:2412-9178
Container-title:Russian Journal of Child Neurology
language:
Short-container-title:Rus. ž. det. nevrol.

Author:

Saifullina E. V.¹^ORCID,Gaysina E. V.²,Magzhanov R. V.³^ORCID,Yalaev A. A.³,Nagornov I. O.⁴^ORCID

Affiliation:

1. Department of Neurology, Bashkir State Medical University, Ministry of Health of Russia; Republican Center for Medical Genetics

2. Republican Center for Medical Genetics

3. Department of Neurology, Bashkir State Medical University, Ministry of Health of Russia

4. N.P. Bochkov Research Center for Medical Genetics

Abstract

Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we report a case VWM disease in a boy with white matter lesions, in whom early onset and neurological symptoms suggested infantile form of the disease. The diagnosis was confirmed by the detection of biallelic mutations c.1688G>A (p.Arg563Gln) and c.1309G>A (p.Val437Met) in the EIF2B5 gene. The c.1309G>A mutation (p.Val437Met) was detected for the first time; it caused the development of severe disease.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference17 articles.

1. Rudenskaya G.E., Zakharova E.Yu. Adult-onset leukoencephalopathy with vanishing white matter. Annaly klinicheskoy i eksperimentalnoy nevrologii = Annals of clinical and experimental neurology 2016;10(2): 46-51. (In Russ.)

2. Bektaş G., Yeşil G., Özkan M.U. et al. Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. Clin Neurol Neurosurg 2018;171:190-3. DOI: 10.1016/j.clineuro.2018.06.023.

3. Denier C., Orgibet A., Roffi F. et al. Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis. Neurology 2007;68(18):1538-9. DOI: 10.1212/01.wnl.0000260701.76868.44.

4. Ding X.Q., Bley A., Ohlenbusch A. et al. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study. J Magn Reson Imaging 2012;35(4):926-32. DOI: 10.1002/jmri.23517.

5. Fogli A., Wong K., Eymard-Pierre E. et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002;52: 506-10. DOI: 10.1002/ana.10339.