Table 3.

Imaging features associated with specific leukodystrophies

Imaging characteristics of specific leukodystrophies
Frontal predominance	Alexander disease.
Basal ganglia abnormalities	H-ABC mtDNA mutations. PLOSL (calcifications).
Hypomyelination	PMD/PMLD. H-ABC. 4H syndrome.
Anterior temporal lobe signal abnormality	CADASIL. CARASIL. CARASAL.
Deep white matter diffusion dots	HDLS. AARS2-L.
Corpus callosum involvement	HDLS. AARS2-L. HSP genes (SPG11, SPG15, Fa2H).
’Tadpole brainstem’ (atrophy of the cervical cord and medulla with preserved pons)	Alexander disease.
Dentate nucleus signal change/cysts	CTX.
Spinal cord abnormalities	Adrenomyeloneuropathy. LBSL. APBD. Alexander disease.
Middle cerebellar and cerebral peduncles	LKPAT.
Contrast enhancement	ALD. Alexander disease. Krabbe disease.
Periventricular microcalcifications (visible on CT)	HDLS.
Extensive calcifications and cysts	Labrune syndrome.
Bone cysts on X-ray	PLOSL.

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.