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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| Language: | English |
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Elsevier
2025-06-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325001232 |
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| author | Chafi Mohammed Alaoui Omar Taloubi Mohammed Maarad Mohammed Oujidi Younes Ikram Zaid Laaribi Ilyas Ghizlane El Aidouni Houssam Bkiyar Brahim Housni |
| author_facet | Chafi Mohammed Alaoui Omar Taloubi Mohammed Maarad Mohammed Oujidi Younes Ikram Zaid Laaribi Ilyas Ghizlane El Aidouni Houssam Bkiyar Brahim Housni |
| author_sort | Chafi Mohammed |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dd6d958f70fd415e83aa7173fdbfd88c |
| institution | OA Journals |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-dd6d958f70fd415e83aa7173fdbfd88c2025-08-20T02:16:03ZengElsevierRadiology Case Reports1930-04332025-06-012063148315210.1016/j.radcr.2025.02.023An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief reviewChafi Mohammed0Alaoui Omar1Taloubi Mohammed2Maarad Mohammed3Oujidi Younes4Ikram Zaid5Laaribi Ilyas6Ghizlane El Aidouni7Houssam Bkiyar8Brahim Housni9Faculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, Morocco; Corresponding author.Faculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoFaculty of Medicine and Pharmacy, Mohammed Ist University, Oujda, Morocco; Department of Anesthesiology and Intensive Care Unit, Mohammed VI University Hospital Mohammed I University Oujda Morocco, Oujda, MoroccoWhite 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.http://www.sciencedirect.com/science/article/pii/S1930043325001232LeukodystrophyWhite matterEIF2B1-5 genesMRI |
| spellingShingle | Chafi Mohammed Alaoui Omar Taloubi Mohammed Maarad Mohammed Oujidi Younes Ikram Zaid Laaribi Ilyas Ghizlane El Aidouni Houssam Bkiyar Brahim Housni An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review Radiology Case Reports Leukodystrophy White matter EIF2B1-5 genes MRI |
| title | An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review |
| title_full | An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review |
| title_fullStr | An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review |
| title_full_unstemmed | An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review |
| title_short | An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review |
| title_sort | atypical initial revelation of cach vanishing white matter syndrome miming herpetic encephalitis in a 6 year old child case report and brief review |
| topic | Leukodystrophy White matter EIF2B1-5 genes MRI |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325001232 |
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