Neuroimaging findings in patient series with mucopolysaccharidosis

Introduction: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported.

Material and methods: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15.

Results: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%).

Conclusions: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity.