Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report
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 l...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2021-11-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/378 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1839572294475710464 |
|---|---|
| author | E. V. Saifullina E. V. Gaysina R. V. Magzhanov A. A. Yalaev I. O. Nagornov |
| author_facet | E. V. Saifullina E. V. Gaysina R. V. Magzhanov A. A. Yalaev I. O. Nagornov |
| author_sort | E. V. Saifullina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6d8afd318d0a4bd4bcd7ac6d2a85c7b6 |
| institution | Matheson Library |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2021-11-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-6d8afd318d0a4bd4bcd7ac6d2a85c7b62025-08-04T14:12:12ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782021-11-01163697410.17650/2073-8803-2021-16-3-69-74256Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case reportE. V. Saifullina0E. V. Gaysina1R. V. Magzhanov2A. A. Yalaev3I. O. Nagornov4Department of Neurology, Bashkir State Medical University, Ministry of Health of Russia; Republican Center for Medical GeneticsRepublican Center for Medical GeneticsDepartment of Neurology, Bashkir State Medical University, Ministry of Health of RussiaDepartment of Neurology, Bashkir State Medical University, Ministry of Health of RussiaN.P. Bochkov Research Center for Medical GeneticsLeukoencephalopathy 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.https://rjdn.abvpress.ru/jour/article/view/378leukoencephalopathy with vanishing white matterinfantile form<i>eif2b5</i> gene mutationsmagnetic resonance imaging of the brain |
| spellingShingle | E. V. Saifullina E. V. Gaysina R. V. Magzhanov A. A. Yalaev I. O. Nagornov Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report Русский журнал детской неврологии leukoencephalopathy with vanishing white matter infantile form <i>eif2b5</i> gene mutations magnetic resonance imaging of the brain |
| title | Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report |
| title_full | Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report |
| title_fullStr | Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report |
| title_full_unstemmed | Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report |
| title_short | Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report |
| title_sort | leukoencephalopathy with vanishing white matter caused by i eif2b5 i gene mutations a case report |
| topic | leukoencephalopathy with vanishing white matter infantile form <i>eif2b5</i> gene mutations magnetic resonance imaging of the brain |
| url | https://rjdn.abvpress.ru/jour/article/view/378 |
| work_keys_str_mv | AT evsaifullina leukoencephalopathywithvanishingwhitemattercausedbyieif2b5igenemutationsacasereport AT evgaysina leukoencephalopathywithvanishingwhitemattercausedbyieif2b5igenemutationsacasereport AT rvmagzhanov leukoencephalopathywithvanishingwhitemattercausedbyieif2b5igenemutationsacasereport AT aayalaev leukoencephalopathywithvanishingwhitemattercausedbyieif2b5igenemutationsacasereport AT ionagornov leukoencephalopathywithvanishingwhitemattercausedbyieif2b5igenemutationsacasereport |