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Mucopolysaccharidoses
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              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: Hyaluronidase deficiency
              • Definitions

                • Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
                  • GAGs 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. Remondino RG et al: Clinical manifestations and surgical management of spinal lesions in patients with mucopolysaccharidosis: a report of 52 cases. Spine Deform. 7(2):298-303, 2019
                                  2. Giussani C et al: Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features. Ital J Pediatr. 44(Suppl 2):119, 2018
                                  3. Nicolas-Jilwan M et al: Mucopolysaccharidoses: overview of neuroimaging manifestations. Pediatr Radiol. 48(10):1503-20, 2018
                                  4. Williams N et al: Surgical management of thoracolumbar kyphosis in patients with mucopolysaccharidosis: a systematic review. Spine (Phila Pa 1976). 42(23):1817-25, 2017
                                  5. Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
                                  6. Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
                                  7. 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
                                  8. 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
                                  9. Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
                                  10. Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
                                  11. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                  12. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                  13. 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
                                  14. Lachman RS: Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 5th ed. Philadelphia: Mosby, 2007
                                  15. Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
                                  16. Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
                                  17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
                                  18. 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
                                  19. Currarino G et al: Congenital glenoid dysplasia. Pediatr Radiol. 28(1):30-7, 1998
                                  20. Tokieda K et al: Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII. J Perinat Med. 26(3):235-9, 1998
                                  21. Wraith JE: The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 72(3):263-7, 1995
                                  22. Eggli KD et al: The mucopolysaccharidoses and related conditions. Semin Roentgenol. 21(4):275-94, 1986
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              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: Hyaluronidase deficiency
                                              • Definitions

                                                • Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
                                                  • GAGs 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. Remondino RG et al: Clinical manifestations and surgical management of spinal lesions in patients with mucopolysaccharidosis: a report of 52 cases. Spine Deform. 7(2):298-303, 2019
                                                                  2. Giussani C et al: Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features. Ital J Pediatr. 44(Suppl 2):119, 2018
                                                                  3. Nicolas-Jilwan M et al: Mucopolysaccharidoses: overview of neuroimaging manifestations. Pediatr Radiol. 48(10):1503-20, 2018
                                                                  4. Williams N et al: Surgical management of thoracolumbar kyphosis in patients with mucopolysaccharidosis: a systematic review. Spine (Phila Pa 1976). 42(23):1817-25, 2017
                                                                  5. Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
                                                                  6. Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
                                                                  7. 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
                                                                  8. 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
                                                                  9. Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
                                                                  10. Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
                                                                  11. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                                  12. Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
                                                                  13. 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
                                                                  14. Lachman RS: Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 5th ed. Philadelphia: Mosby, 2007
                                                                  15. Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
                                                                  16. Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
                                                                  17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
                                                                  18. 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
                                                                  19. Currarino G et al: Congenital glenoid dysplasia. Pediatr Radiol. 28(1):30-7, 1998
                                                                  20. Tokieda K et al: Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII. J Perinat Med. 26(3):235-9, 1998
                                                                  21. Wraith JE: The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 72(3):263-7, 1995
                                                                  22. Eggli KD et al: The mucopolysaccharidoses and related conditions. Semin Roentgenol. 21(4):275-94, 1986