Neuroimaging findings in patient series with mucopolysaccharidosis

Subcortical Cystic Lesions within the Anterior Superior Temporal Gyrus: A Newly Recognized Characteristic Location for Dilated Perivascular Spaces

“…1 Diffusely enlarged perivascular spaces have also been reported, which have been hypothesized to occur in the context of certain pathologic conditions, including chronic microvascular ischemia, Alzheimer dementia, cerebral amyloid angiopathy, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), and mucopolysaccharidoses. [4][5][6][7][8] Regarding the function of perivascular spaces, several theories have been proposed. They are thought to play a role in immunologic processes in the brain, to provide a drainage route for interstitial fluid, and to provide a mechanism for equalization of intracranial pressure.…”

Brain MRI findings in aspartylglucosaminuria

“…PVSs are pia-lined spaces that accompany penetrating arteries and arterioles into the brain parenchyma and are filled with interstitial fluid. Enlarged PVSs are found in many neurodegenerative disorders, including some lysosomal storage diseases [16,20,21]. Patients with Hurler, Hunter or Sanfilippo disease have been found to accumulate undegraded mucopolysaccarides within enlarged PVSs, but it has also been hypothesized that PVS dilatation may reflect the impairment of CSF reabsorption because of deposits in the leptomeninges [16].…”

Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing

“…In addition, the girl showed hyperintensity in the sub-cortical area and hippocampus on T2WI images and the imaging was not clear [8]. However in patients with MPS, abnormal brain structures are frequently observed under MRI and CT: Virchow-Robin perivascular spaces, white matter abnormalities, and ventriculomegaly [9].…”