Table 3

Specific MRI findings in leukodystrophies

MRI findingsLeukodystrophy
Pattern of white matter involvement
 Predominantly frontal periventricularMetachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with neuroaxonal spherods
 Predominantly parietalAdult onset autosomal dominant leukodystrophy
 Predominantly periventricularAdult polyglucosan body disease
 Predominantly posteriorKrabbe disease
 Predominantly occipitalX linked adrenoleukodystrophy
 Posterior white matter changes progressing anteriorlyX linked adrenoleukodystrophy
 Anterior temporal lobe changesCADASIL, adult polyglucosan body disease (involvement of temporal lobe)
Contrast enhancementX linked adrenoleukodystrophy, Alexander disease
Sparing of U fibresMetachromatic leukodystrophy, cerebrotendinous xanthomatosis, adult polyglucosan body disease, Krabbe disease
Involvement of U fibresL-2-hydroxyglutaric aciduria
Corpus callosum
 ThinningAdult onset autosomal dominant leukodystrophy, vanishing white matter disease, hereditary diffuse leukoencephalopathy with neuroaxonal spherods
 HyperintensitiesHereditary diffuse leukoencephalopathy with neuroaxonal spherods, vanishing white matter disease
 SparingCerebrotendinous xanthomatosis, adult polyglucosan body disease (atrophy of corpus callosum can develop late)
Other findings
 Enhancement of corticospinal tractsKrabbe disease
 Cerebellar/brainstem white matter changeAdrenomyeloneuropathy, cerebrotendinous xanthomatosis, Alexander disease
 T2 hypointensity of dentate nucleusCerebrotendinous xanthomatosis, L-2-hydroxyglutaric aciduria
 Atrophy medulla oblongata and upper cervical cordAlexander disease
 Spinal cord atrophyAdult polyglucosan body disease, adrenomyeloneuropathy
 Cystic changesVanishing white matter disease, mitochondrial disease
  • CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.