link
Bookmarks
Pediatrics
Diagnosis
Musculoskeletal
Constitutional Disorders of Bone
Mucopolysaccharidoses
Mucopolysaccharidoses
Arthur B. Meyers, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
8
24
2

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Mucopolysaccharidosis/mucopolysaccharidoses: MPS
              • MPS I-H: Hurler syndrome
              • MPS I-S: Scheie syndrome
              • MPS I-H/S: Hurler-Scheie syndrome
              • MPS II: Hunter syndrome
              • MPS III: Sanfilippo syndrome
              • MPS IV: Morquio syndrome
              • MPS V: Nonexistent, now classified as MPS I-S
              • MPS VI: Maroteaux-Lamy syndrome
              • MPS VII: Sly syndrome or β-glucuronidase deficiency
              • MPS VIII: Nonexistent
              • MPS IX: Natowicz syndrome or Hyaluronidase deficiency

            • Definitions

              • Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
                • GAGs were formerly called mucopolysaccharides
              • Dysostosis multiplex (DM): Constellation of bone dysplasia features seen variably in MPS
              • DM group: Includes all storage diseases that lead to skeletal dysplasia
                • MPS, mucolipidoses, others (Gaucher, Niemann-Pick, gangliosidosis, fucosidosis, mannosidosis, sialidosis)

            IMAGING

            • Radiographic Findings

              • Other Modality Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Reporting Tips

                                Selected References

                                1. Kubaski F et al: Mucopolysaccharidosis type I. Diagnostics (Basel). 10(3), 2020
                                2. Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
                                3. Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
                                4. Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
                                5. Rasalkar DD et al: Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 84(1001):469-77, 2011
                                6. Aliabadi H et al: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery. 67(6):1476-81; discussion 1481-2, 2010
                                7. Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
                                8. Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
                                9. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                10. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                11. Borowski A et al: The use of computed tomography to assess acetabular morphology in Morquio-Brailsford syndrome. J Pediatr Orthop. 27(8):893-7, 2007
                                12. Lachman RS: Taybi & Lachman's Radiology of Syndromes, Metabolic Disorders, & Skeletal Dysplasias. 5th ed. Mosby, 2007
                                13. Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
                                14. Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
                                15. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
                                16. Kachur E et al: Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 47(1):223-8; discussion 228-9, 2000
                                Related Anatomy
                                Loading...
                                Related Differential Diagnoses
                                Loading...
                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Mucopolysaccharidosis/mucopolysaccharidoses: MPS
                                            • MPS I-H: Hurler syndrome
                                            • MPS I-S: Scheie syndrome
                                            • MPS I-H/S: Hurler-Scheie syndrome
                                            • MPS II: Hunter syndrome
                                            • MPS III: Sanfilippo syndrome
                                            • MPS IV: Morquio syndrome
                                            • MPS V: Nonexistent, now classified as MPS I-S
                                            • MPS VI: Maroteaux-Lamy syndrome
                                            • MPS VII: Sly syndrome or β-glucuronidase deficiency
                                            • MPS VIII: Nonexistent
                                            • MPS IX: Natowicz syndrome or Hyaluronidase deficiency

                                          • Definitions

                                            • Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
                                              • GAGs were formerly called mucopolysaccharides
                                            • Dysostosis multiplex (DM): Constellation of bone dysplasia features seen variably in MPS
                                            • DM group: Includes all storage diseases that lead to skeletal dysplasia
                                              • MPS, mucolipidoses, others (Gaucher, Niemann-Pick, gangliosidosis, fucosidosis, mannosidosis, sialidosis)

                                          IMAGING

                                          • Radiographic Findings

                                            • Other Modality Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Reporting Tips

                                                              Selected References

                                                              1. Kubaski F et al: Mucopolysaccharidosis type I. Diagnostics (Basel). 10(3), 2020
                                                              2. Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
                                                              3. Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
                                                              4. Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
                                                              5. Rasalkar DD et al: Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 84(1001):469-77, 2011
                                                              6. Aliabadi H et al: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery. 67(6):1476-81; discussion 1481-2, 2010
                                                              7. Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
                                                              8. Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
                                                              9. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                              10. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                                              11. Borowski A et al: The use of computed tomography to assess acetabular morphology in Morquio-Brailsford syndrome. J Pediatr Orthop. 27(8):893-7, 2007
                                                              12. Lachman RS: Taybi & Lachman's Radiology of Syndromes, Metabolic Disorders, & Skeletal Dysplasias. 5th ed. Mosby, 2007
                                                              13. Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
                                                              14. Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
                                                              15. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
                                                              16. Kachur E et al: Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 47(1):223-8; discussion 228-9, 2000