Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation

Our objective was to determine the brain magnetic resonance imaging (MRI) abnormalities in a selected group of patients with mucopolysaccharidosis (MPS) types I and II who had only mild clinical manifestations. We retrospectively assessed MRI brain studies in 18 patients with MPS (type I: 6 and type II: 12). We evaluated abnormal signal intensity in the white matter, widening of the cortical sulci, size of the supratentorial ventricles, dilatation of the perivascular spaces (PVS) and enlargement of the subarachnoid spaces. We observed a broad spectrum of findings, and despite severely abnormal MRI studies, no patients had mental retardation. We also observed that dilated PVS, previously believed to be caused by macroscopic deposition of the mucopolysaccharides, had an appearance similar to cerebrospinal fluid (CSF) in all MRI sequences performed, even in FLAIR and trace diffusion weighted images. Based on our results, we believe that with the exception of white matter abnormalities and brain atrophy, all other findings may be related to abnormal resorption of CSF, and there is no relationship between the imaging and clinical manifestations of the disease.