Section Editor: Sandy Cheng-Yu Chen, M.D.
Taipei Medical University Hospital, Taipei, Taiwan
Figure Caption
Vanishing white matter disease is a childhood autosomal recessive leukodystrophy caused by mutations in the eIF2B (eukaryotic initiation factor 2B) complex genes, which are important for body protein production. The gene defect may predispose the patient to becoming symptomatic (childhood ataxia) following stress (infection and trauma). The classic MR imaging features are diffuse deep white matter hyperintensity and leukomalacia on T2WI and FLAIR (A and B), in a centrifugal manner extending from periventricular to the subcortical arcuate fibers. CSF-filled cavities (arrows in A and C) can be seen in the periventricular region, extending to the semiovale center (C). The diagnosis is based on clinical symptoms and MRI findings, and rarely, gene analysis. In our case, homozygosity for the eIF2B5 gene mutation was found.