| CASE REPORT |
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| Year : 2013 | Volume
: 3
| Issue : 4 | Page : 396-397 |
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Fatal vanishing white matter disease with unexplained hypertension due to E1F2B5 homozygous mutation
Yusuf Parvez1, Nawal Maksheed2, Osama Shalabi3, Sateesh Kalanthra Kutty4
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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