Brain MRI findings of mucopolysaccharidoses

Objective: To summarize the brain MR imaging features and their correlations in patients with mucopolysaccharidosis (MPS). Methods: The brain MRI data of 19 patients with clinically confirmed MPS between December 2015 and October 2018 in children's Hospital Affiliated to Capital Institute of Pediatrics were analyzed retrospectively. MRI abnormalities, including perivascular spaces enlargement, white matter abnormality (WMA), subarachnoid and ventricular enlargement, sella abnormalities, dens hypoplasia, periodontoid thickening, spinal stenosis, myelopathy and vertebral abnormalities were reviewed and graded. The relationships among MR imaging features and between MRI and age were analyzed with Spearman; correlation analysis. Results: Among the 19 patients, there were 11 cases of widened perivascular space, 9 cases of abnormal signal of white matter, 14 cases of widened subarachnoid space, 10 cases of ventricular dilatation, 14 cases of morphological abnormality of sella turcica, 13 cases of hypoplasia of odontoid process, 5 cases of thickening of soft tissue around odontoid process, 11 cases of spinal canal stenosis, 2 cases of cervical spinal cord abnormality, and 7 cases of morphological abnormality of cervical vertebral bodies. There was positive correlation between WMA and perivascular spaces enlargement (r = 0.6000, P = 0.007). There was significant correlation between subarachnoid space enlargement and ventricular dilatation (r = 0.719, P = 0.001), while MRI features and age, spinal stenosis and periodontoid thickening showed no significant correlation. Conclusions: The spectrum of brain MRI abnormalities in MPS is extremely wide, including perivascular spaces enlargement, WMA, subarachnoid and ventricle space enlargement, sella turcica abnormalities, dens hypoplasia, periodontoid thickening, spinal stenosis, myelopathy and vertebral abnormalities. MRI is helpful for the diagnosis and differential diagnosis of MPS. (authors)