Diagnostic imaging in patients with mucopolysaccharidosis: important imaging patterns

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 Russian publications in the field of radiology. Aims: The purpose of the study is to summarize our own experience, identifying the incidence of changes in various organs and describing the most significant changes and their causes. Identification of more informative and safe diagnostic methods of various organs, taking into account the specificity of changes in MPS. Methods: Retrospectively, 303 children with MPS of different types were examined (the sample included 70 cases verified by the laboratory studies and molecular genetics), the revision of tomograms and radiographs was carried out for the studies from 2015 to 2021. All the patients underwent MRI of the brain and cervical spine, X-ray of the skeletal bones. Results: The analysis of the obtained images 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 has demonstrated that MRI is the most informative imaging method for the assessment of the craniovertebral junction. Given the lower radiation exposure compared to computed tomography, it is preferable to use digital radiography for examining the bones of the extremities.