The phenotype of children carrying eIF2Bε[Arg195His] mutation usually manifested as Cree leukoencephalopathy, a rapidly fatal phenotypic variant of infantile VWM with disease onset in prenatal or infancy; almost all of the affected patients died before 2 years of age (Van Der Knaap et al., 2003; Harder et al., 2010). The gene discussed is EIF2B5; the disease is leukoencephalopathy with vanishing white matter.