Specific MRI findings in leukodystrophies
| MRI findings | Leukodystrophy |
|---|---|
| Pattern of white matter involvement | |
| Predominantly frontal periventricular | Metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with neuroaxonal spherods |
| Predominantly parietal | Adult onset autosomal dominant leukodystrophy |
| Predominantly periventricular | Adult polyglucosan body disease |
| Predominantly posterior | Krabbe disease |
| Predominantly occipital | X linked adrenoleukodystrophy |
| Posterior white matter changes progressing anteriorly | X linked adrenoleukodystrophy |
| Anterior temporal lobe changes | CADASIL, adult polyglucosan body disease (involvement of temporal lobe) |
| Contrast enhancement | X linked adrenoleukodystrophy, Alexander disease |
| Sparing of U fibres | Metachromatic leukodystrophy, cerebrotendinous xanthomatosis, adult polyglucosan body disease, Krabbe disease |
| Involvement of U fibres | L-2-hydroxyglutaric aciduria |
| Corpus callosum | |
| Thinning | Adult onset autosomal dominant leukodystrophy, vanishing white matter disease, hereditary diffuse leukoencephalopathy with neuroaxonal spherods |
| Hyperintensities | Hereditary diffuse leukoencephalopathy with neuroaxonal spherods, vanishing white matter disease |
| Sparing | Cerebrotendinous xanthomatosis, adult polyglucosan body disease (atrophy of corpus callosum can develop late) |
| Other findings | |
| Enhancement of corticospinal tracts | Krabbe disease |
| Cerebellar/brainstem white matter change | Adrenomyeloneuropathy, cerebrotendinous xanthomatosis, Alexander disease |
| T2 hypointensity of dentate nucleus | Cerebrotendinous xanthomatosis, L-2-hydroxyglutaric aciduria |
| Atrophy medulla oblongata and upper cervical cord | Alexander disease |
| Spinal cord atrophy | Adult polyglucosan body disease, adrenomyeloneuropathy |
| Cystic changes | Vanishing white matter disease, mitochondrial disease |
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.