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

Abstract

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.