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CASE REPORT
Year : 2013  |  Volume : 3  |  Issue : 4  |  Page : 396-397

Fatal vanishing white matter disease with unexplained hypertension due to E1F2B5 homozygous mutation


1 Department of Pediatrics, Al-Jahra Hospital, Kuwait
2 Department of Pediatrics and Metabolic Disease, Al-Jahra Hospital, Kuwait
3 Department of Neurology, Al-Jahra Hospital, Kuwait
4 Department of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospita, Kuwait

Correspondence Address:
Yusuf Parvez
Department of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospital, PO Box 40206
Kuwait
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2231-0738.119860

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Vanishing white matter is an autosomal recessive leukoencephalopathy linked to mutations in the eukaryotic translation initiation factor 2B. It is a disease of infants, children and adults who experience a slowly progressive neurologic deterioration with episodes of rapid clinical worsening and eventually leading to death. We report a classical case to highlight its clinical significance.


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