I recently saw a very young patient in whom I made a diagnosis of Vanishing White Matter Disease (VWMD). This is a leukoencephalopathy caused by mutations in one of the subunits of eukaryotic initiation factor eIF2B, which plays an important role in regulation of protein synthesis in stress conditions. The family of this child wanted to know if the 2 year old sibling, who was typically developing, could also be affected by this disease. I decided to order a brain MRI on this sibling because intrafamilial variability is well known, and presymptomatic MRI abnormalities have been well described in this disorder. These abnormalities include confluent and symmetrical abnormalities in the periventricular and deep cerebral white matter and the inner rim of the corpus callosum (Hannemieke et al., Neuropediatrics 2012; 43(01): 022-026).
Hilary Vernon MD PhD