eukoencephalopathy with vanishing white matter: an intermediate phenotype in relation to a heterozygous mutation in EIF2B2
DOI:
https://doi.org/10.32818/reccmi.a9n3a9Keywords:
leukoencephalopathy with vanishing white matter, EIF2B2Abstract
Presentation of an atypical case of vanishing white matter disease (VWM) in a young patient with compatible
clinical features and a pathogenic heterozygous mutation in the EIF2B2 gene. This case highlights the importance
of gene sequencing in the diagnosis of “rare diseases” such as leukodystrophies and present, for the first time, an
intermediate phenotype of VWM with adult onset associated with a heterozygous pathogenic mutation in EIF2B2.
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Van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.
Childhood ataxia with central nervous system hypomyelination / vanishing
white matter. 2003. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace
SE, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington,
Seattle; 1993–2024. Accesible en: https://www.ncbi.nlm.nih.gov/
books/NBK1258/pdf/Bookshelf_NBK1258.pdf (último acceso nov. 2024).
Fogli A, Rodríguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, et
al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J
Hum Genet. 2003; 72(6): 1544-50. doi: https://doi.org/10.1086/375404 (último DOI: https://doi.org/10.1086/375404
acceso nov. 2024).
Mierzewska H, van der Knaap M, Scheper G, Jurkiewicz E, Schmidt-Sidor B,
Szymańska K. Case report leukoencephalopathy with vanishing white matter
due to homozygous EIF2B2 gene mutation. First Polish cases. Folia Neuropathologica.
; 44(2): 144-148. Accesible en: https://www.termedia.
pl/Case-report-Leukoencephalopathy-with-vanishing-white-matter-dueto-
homozygous-EIF2B2-gene-mutation-First-Polish-cases,20,6223,1,1.html.
(ultimo acceso nov. 2024)
Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, et
al. The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Neurology. 2004; 62(9): 1509-17. doi: https://doi.org/10.1212/01.
wnl.0000123259.67815.db (último acceso nov. 2024).
Tian Y, Liu Q, Zhou Y, Chen XY, Pan Y, Xu H, et al. Identification of a novel
heterozygous mutation in the EIF2B4 gene associated with vanishing white
matter disease. Front Bioeng Biotechnol. 2022; 10: 901452. doi: https://doi. DOI: https://doi.org/10.3389/fbioe.2022.1060249
org/10.3389/fbioe.2022.901452 (último acceso nov. 2024).
Sambati L, Agati R, Bacci A, Bianchi S, Capellari S. Vanishing white matter
disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an
unusual early onset and a long course. Neurol Sci. 2013; 4(7): 1235-8. doi:
https://doi.org/10.1007/s10072-012-1129-3 (último acceso nov. 2024). DOI: https://doi.org/10.1007/s10072-012-1129-3
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Copyright (c) 2024 Belén Quintanilla-Carrillo, Roberto Pertusa-Mataix, José Salvador García-Morillo
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