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

• Published in: Russkiĭ zhurnal detskoĭ nevrologii Vol. 16; no. 3; pp. 69 - 74
• Main Authors: Saifullina, E. V., Gaysina, E. V., Magzhanov, R. V., Yalaev, A. A., Nagornov, I. O.
• Format: Journal Article
• Language: English; Russian
• Published: ABV-press 04.11.2021
• Subjects: eif2b5 gene mutations; infantile form; leukoencephalopathy with vanishing white matter; magnetic resonance imaging of the brain
• ISSN: 2073-8803; 2412-9178
• DOI: 10.17650/2073-8803-2021-16-3-69-74

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.