Vanishing white matter disease (VWMD; OMIM 603896), which is also known as childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1–5 genes that encode the subunits of eukaryotic translation initiation factor 2B (eIF2B) [1, 2]. Here, EIF2B3 is linked to leukoencephalopathy with vanishing white matter.