Background: the need for systematization, generalization and analysis of structural changes in various organs and systems that occur in patients with mucopolysaccharidosis (MPS). MPS is a rare disease, therefore, there is a lack of structured information in the field of radiology among Russian publications.
Aims: The puspose of the study is to summarize our own experience, compare it with the literature data, and describe the most significant changes and their causes in MPS.
Methods: Retrospectively, 303 children with MPS were examined (the sample included 70 cases verified by laboratory and molecular genetics) of different types, revision of tomograms and radiographs was carried out among studies from 2015 to 2021. All patients underwent MRI of the brain and cervical spine, X-ray of the bones of the skeleton.
Results: Analysis of the images obtained revealed the most common changes, such as dysostosis (in 100%, 70 patients), stenosis of the spinal canal at the craniovertebral level (73%, 51 patients), atrophy (47%, 33 patients) and focal lesions of the brain substance ( 67%, 47 patients), hydrocephalus (28%, 20 patients), expansion of the perivascular spaces (70%, 58 patients). The pathophysiological mechanisms of the occurrence of structural changes have been analyzed and described.
Conclusions: The assessment and comparison of various diagnostic methods for different organs and systems was carried out: for the assessment of the craniovertebral junction, the most informative imaging method is MRI. Given the lower radiation exposure compared to computed tomography, it is preferable to use digital radiography for examining the bones of the extremities.