Leukoencephalopathy with vanishing white matter

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: CACH; childhood ataxia with central nervous system hypomyelinization; vanishing white matter leukodystrophy; cree leukoencephalopathy; CLE; vanishing white matter leukodystrophy with ovarian failure, included; ovarioleukodystrophy, included

Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5.

Adult-onset VWM disease can present with psychosis and may be hard to differentiate from schizophrenia.^[1]

• CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
• Progressive multifocal leukoencephalopathy
• Metachromatic leukodystrophy

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