Open AccessLeukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report
Author(s) -
Е. В. Сайфуллина,
E. V. Gaysina,
Р. В. Магжанов,
A. A. Yalaev,
Ilya Nagornov
Publication year - 2021
Publication title -
russkij žurnal detskoj nevrologii
Language(s) - English
Resource type - Journals
eISSN - 2412-9178
pISSN - 2073-8803
DOI - 10.17650/2073-8803-2021-16-3-69-74
Subject(s) - leukoencephalopathy , white matter , leukodystrophy , pathology , mutation , disease , medicine , magnetic resonance imaging , biology , gene , genetics , radiology
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.