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Mucopolysaccharidoses, Spine
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Mucopolysaccharidosis (MPS)
              • Synonyms

                • "Gargoylism" (not politically correct terminology)
              • Definitions

                • Inherited lysosomal storage disorders
                  • Specific enzyme deficiency → inability to break down specific glycosaminoglycans (GAGs), intracellular accumulation and toxicity

              IMAGING

              • General Features

                • Radiographic Findings

                  • Fluoroscopic 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

                                                Selected References

                                                1. Sganzerla EP et al: Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 40:313-31, 2014
                                                2. Sharkia R et al: Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case Rep. 8(1):78, 2014
                                                3. Yasin MN et al: Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (hurler syndrome). Spine (Phila Pa 1976). 39(5):381-7, 2014
                                                4. Horovitz DD et al: Spinal cord compression in young children with type VI mucopolysaccharidosis. Mol Genet Metab. 104(3):295-300, 2011
                                                5. Houten JK et al: Morquio's syndrome and craniocervical instability. Pediatr Neurosurg. 47(3):238-40, 2011
                                                6. Marsden D et al: Newborn screening of lysosomal storage disorders. Clin Chem. 56(7):1071-9, 2010
                                                7. 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
                                                8. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                9. Finn CT et al: Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl. 97(457):61-8, 2008
                                                10. Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
                                                11. Dickerman RD et al: Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976). 29(5):E92-4, 2004
                                                12. Levin TL et al: Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. 27(4): 289-94, 1997
                                                13. Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
                                                14. Nelson J et al: Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Clin Genet. 33(2):111-20, 1988
                                                15. Banna M et al: Compressive meningeal hypertrophy in mucopolysaccharidosis. AJNR Am J Neuroradiol. 8(2):385-6, 1987
                                                16. Kulkarni MV et al: Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 5(5):317-23, 1987
                                                17. Edwards MK et al: CT metrizamide myelography of the cervical spine in Morquio syndrome. AJNR Am J Neuroradiol. 3(6):666-9, 1982
                                                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 (MPS)
                                                            • Synonyms

                                                              • "Gargoylism" (not politically correct terminology)
                                                            • Definitions

                                                              • Inherited lysosomal storage disorders
                                                                • Specific enzyme deficiency → inability to break down specific glycosaminoglycans (GAGs), intracellular accumulation and toxicity

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • Fluoroscopic 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

                                                                                              Selected References

                                                                                              1. Sganzerla EP et al: Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 40:313-31, 2014
                                                                                              2. Sharkia R et al: Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case Rep. 8(1):78, 2014
                                                                                              3. Yasin MN et al: Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (hurler syndrome). Spine (Phila Pa 1976). 39(5):381-7, 2014
                                                                                              4. Horovitz DD et al: Spinal cord compression in young children with type VI mucopolysaccharidosis. Mol Genet Metab. 104(3):295-300, 2011
                                                                                              5. Houten JK et al: Morquio's syndrome and craniocervical instability. Pediatr Neurosurg. 47(3):238-40, 2011
                                                                                              6. Marsden D et al: Newborn screening of lysosomal storage disorders. Clin Chem. 56(7):1071-9, 2010
                                                                                              7. 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
                                                                                              8. Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
                                                                                              9. Finn CT et al: Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl. 97(457):61-8, 2008
                                                                                              10. Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
                                                                                              11. Dickerman RD et al: Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976). 29(5):E92-4, 2004
                                                                                              12. Levin TL et al: Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. 27(4): 289-94, 1997
                                                                                              13. Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
                                                                                              14. Nelson J et al: Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Clin Genet. 33(2):111-20, 1988
                                                                                              15. Banna M et al: Compressive meningeal hypertrophy in mucopolysaccharidosis. AJNR Am J Neuroradiol. 8(2):385-6, 1987
                                                                                              16. Kulkarni MV et al: Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 5(5):317-23, 1987
                                                                                              17. Edwards MK et al: CT metrizamide myelography of the cervical spine in Morquio syndrome. AJNR Am J Neuroradiol. 3(6):666-9, 1982