Synonyms:
a.k.a. leukoencephalopathy with vanishing white matter a.k.a. childhood ataxia and cerebral hypomyelination CACH
Diagnosis:
A type of leukodystrophy. A type of dysmyelination
Genetics:
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:
+Imaging:
- 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
Pathology:
Cystic degeneration of white matter, foamy oligodendrocytes. Normal grey matter.