An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review
White matter vanishing syndrome (WMS) is one of the most common hereditary leukoencephalopathies, affecting all ages, including newborns and adults. We report the case of a 6-year-old child admitted to the emergency department with sudden loss of consciousness, in whom herpetic encephalitis was susp...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325001232 |
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| Summary: | White matter vanishing syndrome (WMS) is one of the most common hereditary leukoencephalopathies, affecting all ages, including newborns and adults. We report the case of a 6-year-old child admitted to the emergency department with sudden loss of consciousness, in whom herpetic encephalitis was suspected on the basis of recent herpes virus infection, and whose brain MRI showed Vanishing White Matter, subsequently confirmed by identification of the EIF2B5 gene mutation. Vanishing White Matter (VWM) syndrome, also known as infantile ataxia with central hypomyelination, is a leukodystrophy which is one of a wide range of rare genetic disorders primarily affecting the white matter of the central nervous system, caused by mutations in the c. This damage generally affects the deep areas of the brain, and does not spare the U-shaped fibers, a finding of great diagnostic interest for differentiating from other causes of leukodystrophies. MRI is a fundamental diagnostic test with good sensitivity for establishing the diagnosis because of a very good correlation between MRI aspects and mutations in the EIF2B1-5 genes. Guanabenz and Fosigotifatorsont represent 2 promising molecules for improving quality of life and prognosis in this population. |
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| ISSN: | 1930-0433 |