Radiographic Findings of Mucopolysaccharidosis and Comparison With Bone Mineral Density: A Study from Southeastern Turkey

Introduction: The first aim of this study is to define the severity of radiologic features according to mucopolysaccharidosis (MPS) type. The second aim is to compare spine radiographs with dual-energy X-ray absorptiometry (DXA) scores. Methodology: A total of 64 MPS children were enrolled between January 2017 and March 2021. Patients with a history of surgery, fracture or improper radiographs were excluded. Finally, 48 cases (20 MPS VI, 12 MPS IVA, 7 MPS IIIA, 4 MPS IIIB, 3 MPS II, 2 MPS I) were yielded. Among them, 38 had DXA performed in the same week with radiographs. Demographic and radiographic features and the hip acetabular index were noted. T12-L5 vertebral body heights were measured from lateral spine radiographs and divided by patient height. DXA measurements, bone mineral density and Z-scores were also recorded. Results: Spine and hip findings were most frequently seen in MPS VI and IVA. Oar-shaped ribs were more common in MPS VI, whereas anteromedial beaking of vertebra was predominantly seen in MPS IVA. Femoral head dysplasia is most common in MPS IVA, VI and I. The highest mean acetabular was observed in MPS I. The mean Z-score of L1-L4 vertebrae was low for MPS I (-3.8), IVA (-3.79) and VI (-3.73), but normal for MPS II (0.6) and IIIA (0.23). Correlation between the Z-score and vertebral index was highest in the L1 vertebral body. Conclusion: Interpreting the characteristic radiographic features of different MPS types is important. In addition to dysostosis multiplex, quantitative measurements from radiographs may be beneficial in evaluating disease progression. storage disorders.