Fig. 17

Neuroradiological imaging findings. Brain atrophy in a patient affected by MPS VI; the patient started treatment with enzyme replacement therapy (ERT) in 2005. The studies were collected from 2005 (when she was 11 years old) to 2012 (at the age of 17). The patient shows a moderate degree of brain atrophy, with mild enlargement of the Sylvian fissure on axial images (a, c, e, g); on sagittal acquisitions there are some focal lesions along the corpus callosum and an enlargement of cisterna magna (b, d, f, h). The brain atrophy does not show significant progression through the different MR examinations. Despite encouraging results observed in patients with MPS II, the ERT therapy does not seem to improve the appearance of neuroradiological imaging findings; the enzymes do not cross the haematoencephalic barrier. However, new evidence is needed in order to investigate the progression of neuroradiological imaging findings after treatment