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Mucopolysaccharidoses
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Mucopolysaccharidosis (MPS)
            • Definitions

              • Inherited metabolic disorders caused by single gene defects leading to progressive cellular accumulation of glycosaminoglycans and damage to multiple organs
                • Radiographic abnormalities are mostly shared by different disorders; termed dysostosis multiplex

            IMAGING

            • Radiographic Findings

              • MR Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Demographics

                      • Natural History & Prognosis

                        • Treatment

                          DIAGNOSTIC CHECKLIST

                          • Reporting Tips

                            Selected References

                            1. Lachman RS et al: Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol. 43(3):359-69, 2014
                            2. Cotugno G et al: Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses. Hum Gene Ther. 21(5):555-69, 2010
                            3. Lachman R et al: Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 3(2):109-18, 2010
                            4. Prasad VK et al: Transplant outcomes in mucopolysaccharidoses. Semin Hematol. 47(1):59-69, 2010
                            5. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                            6. Bahadir C et al: Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 15(8):402-4, 2009
                            7. Cimaz R et al: Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 7:18, 2009
                            8. Mercimek-Mahmutoglu S et al: Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World J Pediatr. 5(4):319-21, 2009
                            9. Wraith JE: Enzyme replacement therapy for the management of the mucopolysaccharidoses. Int J Clin Pharmacol Ther. 47 Suppl 1:S63-5, 2009
                            10. Vedolin L et al: Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol. 28(6):1029-33, 2007
                            11. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4517-24, 2002
                            Related Anatomy
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                            Related Differential Diagnoses
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                            References
                            Tables

                            Tables

                            KEY FACTS

                            • Terminology

                              • Imaging

                                • Pathology

                                  • Clinical Issues

                                    • Diagnostic Checklist

                                      TERMINOLOGY

                                      • Abbreviations

                                        • Mucopolysaccharidosis (MPS)
                                      • Definitions

                                        • Inherited metabolic disorders caused by single gene defects leading to progressive cellular accumulation of glycosaminoglycans and damage to multiple organs
                                          • Radiographic abnormalities are mostly shared by different disorders; termed dysostosis multiplex

                                      IMAGING

                                      • Radiographic Findings

                                        • MR Findings

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • General Features

                                              CLINICAL ISSUES

                                              • Demographics

                                                • Natural History & Prognosis

                                                  • Treatment

                                                    DIAGNOSTIC CHECKLIST

                                                    • Reporting Tips

                                                      Selected References

                                                      1. Lachman RS et al: Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol. 43(3):359-69, 2014
                                                      2. Cotugno G et al: Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses. Hum Gene Ther. 21(5):555-69, 2010
                                                      3. Lachman R et al: Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 3(2):109-18, 2010
                                                      4. Prasad VK et al: Transplant outcomes in mucopolysaccharidoses. Semin Hematol. 47(1):59-69, 2010
                                                      5. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                      6. Bahadir C et al: Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 15(8):402-4, 2009
                                                      7. Cimaz R et al: Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 7:18, 2009
                                                      8. Mercimek-Mahmutoglu S et al: Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World J Pediatr. 5(4):319-21, 2009
                                                      9. Wraith JE: Enzyme replacement therapy for the management of the mucopolysaccharidoses. Int J Clin Pharmacol Ther. 47 Suppl 1:S63-5, 2009
                                                      10. Vedolin L et al: Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol. 28(6):1029-33, 2007
                                                      11. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4517-24, 2002