Vanishing White Matter disease VWM


a.k.a. leukoencephalopathy with vanishing white matter a.k.a. childhood ataxia and cerebral hypomyelination CACH


A type of leukodystrophy. A type of dysmyelination


Autosomal recessive
Mutations in one of five genes for translation factor (eukaryotic initiation factor 2B, elF2B) on chromosome 3: ELF2B1, ELF2B2, ELF2B3, ELF2B4, ELF2B5

Clinical features:

<6 year olds at presentation, febrile illness trigger major neurological deterioration

Findings on investigations:


  • Hemispheric white matter except U fibres. Cystic change periventricularly and in lobes (frontal and occipital). Cerebellar atrophy.
  • MRI: white matter signal intensity= CSF on all sequences T1, T2.
  • T2 MRI: pons hyperintensity


Cystic degeneration of white matter, foamy oligodendrocytes. Normal grey matter.

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