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

Autor:	E. V. Saifullina, E. V. Gaysina, R. V. Magzhanov, A. A. Yalaev, I. O. Nagornov
Jazyk:	ruština
Rok vydání:	2021
Předmět:	leukoencephalopathy with vanishing white matter infantile form eif2b5 gene mutations magnetic resonance imaging of the brain Neurology. Diseases of the nervous system RC346-429
Zdroj:	Русский журнал детской неврологии, Vol 16, Iss 3, Pp 69-74 (2021)
Druh dokumentu:	article
ISSN:	2073-8803 2412-9178
DOI:	10.17650/2073-8803-2021-16-3-69-74
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/6d8afd318d0a4bd4bcd7ac6d2a85c7b6 Zobrazit plný text záznamu View record in DOAJ