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Mucopolysaccharidoses
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Mucopolysaccharidoses (MPS)
          • Synonyms

            • Old term: "Gargoylism"
          • Definitions

            • Group of lysosomal storage disorders
              • Characterized by inability to break down glycosaminoglycans (GAGs)
              • Undegraded GAGs toxic, accumulate in multiple organs
              • Each type of MPS causes accumulation of particular GAG in lysosomes, extracellular matrix
              • 11 known enzyme deficiencies, resulting in 7 distinct forms of MPS
                • Prototype MPS = MPS 1H (Hurler)

          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

                                          Selected References

                                          1. Andrade F et al: Sanfilippo syndrome: Overall review: Mucopolysaccharidosis type III. Pediatr Int. ePub, 2015
                                          2. Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
                                          3. Leone A et al: Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 31(2):203-12, 2015
                                          4. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                          5. Noh H et al: Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther. 39(3):215-24, 2014
                                          6. Tylki-Szymańska A: Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev. 12 Suppl 1:107-13, 2014
                                          7. Wraith JE et al: Mucopolysaccharidosis type I. Pediatr Endocrinol Rev. 12 Suppl 1:102-6, 2014
                                          8. Xing M et al: Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol. 87(1033):20130467, 2014
                                          9. Zafeiriou DI et al: Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 34(1):5-13, 2013
                                          10. de Ru MH et al: Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 6:55, 2011
                                          11. 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
                                          12. Yeung AH et al: Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 135(1):73-9, 2009
                                          13. Kara S et al: Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol. 38(5):363-6, 2008
                                          14. Gabrielli O et al: Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet. 125A(3):224-31, 2004
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Mucopolysaccharidoses (MPS)
                                                  • Synonyms

                                                    • Old term: "Gargoylism"
                                                  • Definitions

                                                    • Group of lysosomal storage disorders
                                                      • Characterized by inability to break down glycosaminoglycans (GAGs)
                                                      • Undegraded GAGs toxic, accumulate in multiple organs
                                                      • Each type of MPS causes accumulation of particular GAG in lysosomes, extracellular matrix
                                                      • 11 known enzyme deficiencies, resulting in 7 distinct forms of MPS
                                                        • Prototype MPS = MPS 1H (Hurler)

                                                  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

                                                                                  Selected References

                                                                                  1. Andrade F et al: Sanfilippo syndrome: Overall review: Mucopolysaccharidosis type III. Pediatr Int. ePub, 2015
                                                                                  2. Aronovich EL et al: Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. Mol Genet Metab. 114(2):83-93, 2015
                                                                                  3. Leone A et al: Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 31(2):203-12, 2015
                                                                                  4. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                                                                  5. Noh H et al: Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther. 39(3):215-24, 2014
                                                                                  6. Tylki-Szymańska A: Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev. 12 Suppl 1:107-13, 2014
                                                                                  7. Wraith JE et al: Mucopolysaccharidosis type I. Pediatr Endocrinol Rev. 12 Suppl 1:102-6, 2014
                                                                                  8. Xing M et al: Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol. 87(1033):20130467, 2014
                                                                                  9. Zafeiriou DI et al: Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 34(1):5-13, 2013
                                                                                  10. de Ru MH et al: Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 6:55, 2011
                                                                                  11. 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
                                                                                  12. Yeung AH et al: Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 135(1):73-9, 2009
                                                                                  13. Kara S et al: Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol. 38(5):363-6, 2008
                                                                                  14. Gabrielli O et al: Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet. 125A(3):224-31, 2004