Table 3

Imaging features associated with specific leukodystrophies

Imaging characteristics of specific leukodystrophies
Frontal predominanceAlexander disease.
Basal ganglia abnormalitiesH-ABC
mtDNA mutations.
PLOSL (calcifications).
4H syndrome.
Anterior temporal lobe signal abnormalityCADASIL.
Deep white matter diffusion dotsHDLS.
Corpus callosum involvementHDLS.
HSP genes (SPG11, SPG15, Fa2H).
’Tadpole brainstem’ (atrophy of the cervical cord and medulla with preserved pons)Alexander disease.
Dentate nucleus signal change/cystsCTX.
Spinal cord abnormalitiesAdrenomyeloneuropathy.
Alexander disease.
Middle cerebellar and cerebral pedunclesLKPAT.
Contrast enhancementALD.
Alexander disease.
Krabbe disease.
Periventricular microcalcifications (visible on CT)HDLS.
Extensive calcifications and cystsLabrune syndrome.
Bone cysts on X-rayPLOSL.
  • ALD, adrenoleukodystrophy; APBD, adult polyglucosan body disease; CADASIL, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL, cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CTX, cerebrotendinous xanthomatosis; H-ABC, Hypomyelination with atrophy of the basal ganglia and cerebellum; HDLS, hereditary diffuse leukoencephalopathy with spheroids; HSP, Hereditary Spastic Paraplegia; LBSL, leukoencephalopathy with brainstem and spinal cord involvement with elevated lactate; LKPAT, leukoencephalopathy with ataxia; PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PMD, Pelizaeus-Merzbacher disease; PMLD, Pelizaeus-Merzbacher-like disorder.