Cerebral manifestations of mucopolysaccharidoses

Last revised by Joshua Yap on 24 Mar 2023

The mucopolysaccharidoses (MPSs), which constitute a hereditary subgroup of the lysosomal storage disorders, have distinctive cerebral manifestations.

The mucopolysaccharidoses are characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysaccharides (also known as glycosaminoglycans) 1

For a general discussion of the underlying condition, please refer to the article mucopolysaccharidoses.

Radiologic features


Their characteristic neuroimaging features are best appreciated on MRI 2.

  • perivascular (Virchow-Robin) spaces dilatation:

    • usually seen within the periventricular/peritrigonal white matter, corpus callosum, basal ganglia, subcortical white matter, thalami, or brainstem

    • the spaces usually have a radial orientation from the subependymal region toward the cortex 2

  • white matter lesions:

    • one of the most common findings

    • appear as focal or confluent areas of T2/FLAIR hyperintensity, sometimes coalescent and large, simulating leukodystrophy

    • lesions usually occur within the periventricular white matter but can also occur in the subcortical white matter; lesions frequently start at the peritrigonal regions

  • hydrocephalus: usually communicating; slowly progressive and typically manifests as ventricular and subarachnoid space dilatation

  • brain atrophy: common


Differential diagnosis

Possible considerations include:

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