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Mucopolysaccharidosis
Bernadette L. Koch, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Mucopolysaccharidoses (MPS)
          • Definitions

            • Heterogeneous group of hereditary lysosomal storage diseases due to deficiency of enzymes that degrade glycosaminoglycans (GAGs) or mucopolysaccharides
              • Accumulation of partially degraded GAGs → interference with cell, tissue, & organ function

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          • Reporting Tips

                                            Selected References

                                            1. Zafeiriou DI et al: Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 34(1):5-13, 2013
                                            2. Fan Z et al: Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II. AJNR Am J Neuroradiol. Epub ahead of print, 2010
                                            3. Mundada V et al: Lumbar gibbus: early presentation of dysostosis multiplex. Arch Dis Child. 2009 Dec;94(12):930-1. Erratum in: Arch Dis Child. 95(5):401, 2010
                                            4. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                            5. Jones SA et al: Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 32(4):534-43, 2009
                                            6. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                            7. Muenzer J et al: Multidisciplinary management of Hunter syndrome. Pediatrics. 124(6):e1228-39, 2009
                                            8. Wraith JE et al: Initial report from the Hunter Outcome Survey. Genet Med. 10(7):508-16, 2008
                                            9. Beck M: New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 121(1):1-22, 2007
                                            10. Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
                                            11. Hingston EJ et al: Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy. Int J Paediatr Dent. 16(3):207-12, 2006
                                            12. Gabrielli O et al: Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A. 125A(3):224-31, 2004
                                            13. Matheus MG et al: Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology. 46(8):666-72, 2004
                                            14. 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
                                            15. Smith KS et al: Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Int J Oral Maxillofac Surg. 24(2):176-80, 1995
                                            16. Bredenkamp JK et al: Otolaryngologic manifestations of the mucopolysaccharidoses. Ann Otol Rhinol Laryngol. 101(6):472-8, 1992
                                            17. Nakamura T et al: Rosette formation of impacted molar teeth in mucopolysaccharidoses and related disorders. Dentomaxillofac Radiol. 21(1):45-9, 1992
                                            18. Taylor DB et al: Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol. 157(4):819-23, 1991
                                            19. Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
                                            20. Oestreich AE: The stylohyoid ligament in Hurler syndrome and related conditions: comparison with normal children. Radiology. 154(3):665-6, 1985
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Mucopolysaccharidoses (MPS)
                                                    • Definitions

                                                      • Heterogeneous group of hereditary lysosomal storage diseases due to deficiency of enzymes that degrade glycosaminoglycans (GAGs) or mucopolysaccharides
                                                        • Accumulation of partially degraded GAGs → interference with cell, tissue, & organ function

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  • Image Interpretation Pearls

                                                                                    • Reporting Tips

                                                                                      Selected References

                                                                                      1. Zafeiriou DI et al: Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 34(1):5-13, 2013
                                                                                      2. Fan Z et al: Correlation of Automated Volumetric Analysis of Brain MR Imaging with Cognitive Impairment in a Natural History Study of Mucopolysaccharidosis II. AJNR Am J Neuroradiol. Epub ahead of print, 2010
                                                                                      3. Mundada V et al: Lumbar gibbus: early presentation of dysostosis multiplex. Arch Dis Child. 2009 Dec;94(12):930-1. Erratum in: Arch Dis Child. 95(5):401, 2010
                                                                                      4. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                                                      5. Jones SA et al: Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 32(4):534-43, 2009
                                                                                      6. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                                                                      7. Muenzer J et al: Multidisciplinary management of Hunter syndrome. Pediatrics. 124(6):e1228-39, 2009
                                                                                      8. Wraith JE et al: Initial report from the Hunter Outcome Survey. Genet Med. 10(7):508-16, 2008
                                                                                      9. Beck M: New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 121(1):1-22, 2007
                                                                                      10. Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
                                                                                      11. Hingston EJ et al: Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy. Int J Paediatr Dent. 16(3):207-12, 2006
                                                                                      12. Gabrielli O et al: Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A. 125A(3):224-31, 2004
                                                                                      13. Matheus MG et al: Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology. 46(8):666-72, 2004
                                                                                      14. 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
                                                                                      15. Smith KS et al: Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Int J Oral Maxillofac Surg. 24(2):176-80, 1995
                                                                                      16. Bredenkamp JK et al: Otolaryngologic manifestations of the mucopolysaccharidoses. Ann Otol Rhinol Laryngol. 101(6):472-8, 1992
                                                                                      17. Nakamura T et al: Rosette formation of impacted molar teeth in mucopolysaccharidoses and related disorders. Dentomaxillofac Radiol. 21(1):45-9, 1992
                                                                                      18. Taylor DB et al: Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol. 157(4):819-23, 1991
                                                                                      19. Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
                                                                                      20. Oestreich AE: The stylohyoid ligament in Hurler syndrome and related conditions: comparison with normal children. Radiology. 154(3):665-6, 1985