Brain and spinal MR imaging findings in mucopolysaccharidoses: a review

Abstract

MPS represents a group of rare hereditary disorders characterized by multisystem involvement due to intralysosomal GAG accumulation. Among various tissues, both the central and peripheral nervous system are affected in almost all types of the disease. Thus, brain and spinal MR imaging are valuable tools for the assessment of neurologic involvement, and there is evidence that they might be reliable markers demonstrating disease severity and efficacy of treatment options currently used in patients with MPS. We aimed to review the most prominent MR imaging features of patients with MPS, paying attention to the physiopathologic mechanisms responsible for these alterations. Along with the description of neuroimaging findings, existing data in relation to their correlation with the severity of neurologic involvement is discussed, while another topic of great importance is the effect of various therapeutic regimens in the progression of brain and spinal MR imaging alterations. Finally, recent data concerning MR spectroscopy studies in MPS are also critically discussed.

Fig 1.

Brain T2-weighted axial MR image (TR/TE, 4000/99 ms) of a patient with MPS II at 21 years of age, demonstrating marked cortical atrophy and ventricular enlargement. Note also the extensive cribriform changes in both white matter and thalami.

Fig 2.

Brain axial T2-weighted image (TR/TE, 4000/99 ms) of a 9-year-old patient with MPS II, demonstrating ventricular dilation and enlargement of the cortical sulci. WMA and disperse cystic lesions in the periventricular area are also noted.

Fig 3.

Brain T2-weighted axial MR image (TR/TE, 4000/99 ms) of a patient with MPS II at 21 years of age, demonstrating WMA, mainly found in the retrotrigonal area of the brain, and cribriform changes in both periventricular and subcortical white matter. Note also the enlarged ventricles and cortical sulci in the frontal lobe.

Fig 4.

Brain T2-weighted axial MR image (TR/TE, 4000/99 ms) of a patient with MPS IIIB at 9 years of age, demonstrating involvement of the white matter with signal-intensity alterations and PVS enlargement, cortical atrophy, and thickening of the diploe.

Fig 5.

Brain sagittal T1-weighted image (TR/TE, 110/52 ms) of a patient with MPS II at 3 years of age. MR imaging demonstrates several cystlike dilated PVS in the body of the corpus callosum. A mega cisterna magna can be also observed.

Fig 6.

Spinal sagittal T2-weighted image (TR/TE, 3350/115 ms) of a patient with MPS VI at 25 years of age. MR imaging demonstrates canal stenosis, vertebral abnormalities, and a mild Chiari I malformation.