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Enlarged Perivascular Spaces in Hunter Syndrome

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

3 year old male with Hunter syndrome.


Case Images


Diagnosis

Enlarged Perivascular Spaces in Hunter Syndrome

Findings

MR – Sagittal T1 and axial T2 images demonstrate enlargement of the supratentorial extra-axial spaces, ventricles and perivascular spaces.

Discussion

Hunter syndrome (mucopolysaccharidosis type II) is lysosomal storage disease caused by deficiency of iduronate 2-sulfatase which leads to accumulation of glycosaminoglycans in various organs. Neurologic manifestations can be quite variable; there is no reliable biological marker or phenotype to predict neurologic outcome. Enzyme replacement is potentially therapeutic.

Imaging findings in mucopolysaccharidosis include: 1) T2 hyperintense white matter lesions, 2) dilated perivascular spaces, 3) atrophy, 4) hydrocephalus, 5) cerebellar atrophy, 6) dilated dural sinuses, 7) thickening of calvarial diploe and 8) spinal stenosis.

Perivascular cysts are seen in mucopolysaccharidosis but most frequently in Hunter syndrome. The cysts range in size between 2 and 8 mm and are mainly seen in the periventricular white matter, corpus callosum and basal ganglia. Cysts are thought to be related to mucopolysaccharide deposition in the perivascular zones.

Reference

Kara S, Sherr EH, Barkovich AJ. Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A. Pediat Neurology (2008); 38:363-366.

Vedolin L, et al. Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR (2007); 28:1029-1033.



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