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Gaucher Disease
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Gaucher disease: Lysosomal storage disorder resulting in deposition of glucocerebroside in cells of reticuloendothelial system, including bone marrow

          IMAGING

          • General Features

            • Radiographic Findings

              • MR Findings

                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

                                    Selected References

                                    1. Kamath RS et al: Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol. 43(10):1353-60, 2014
                                    2. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                    3. Katz R et al: Radiological aspects of Gaucher disease. Skeletal Radiol. 40(12):1505-13, 2011
                                    4. Boomsma JM et al: Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study. Blood Cells Mol Dis. 44(3):181-7, 2010
                                    5. Bubbar V et al: Total hip replacement in Gaucher's disease: effects of enzyme replacement therapy. J Bone Joint Surg Br. 91(12):1623-7, 2009
                                    6. Elstein D et al: Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 3:407-17, 2009
                                    7. Hollak CE et al: Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships. Expert Opin Pharmacother. 10(16):2641-52, 2009
                                    8. Parenti G: Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 1(5):268-79, 2009
                                    9. Vanhoenacker FM et al: Guidelines for Belgian MR centers for monitoring of bone marrow involvement in patients with Gaucher disease. JBR-BTR. 89(6):321-4, 2006
                                    10. Maas M et al: Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 229(2):554-61, 2003
                                    11. Maas M et al: Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 179(4):961-5, 2002
                                    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

                                            • Definitions

                                              • Gaucher disease: Lysosomal storage disorder resulting in deposition of glucocerebroside in cells of reticuloendothelial system, including bone marrow

                                            IMAGING

                                            • General Features

                                              • Radiographic Findings

                                                • MR Findings

                                                  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

                                                                      Selected References

                                                                      1. Kamath RS et al: Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol. 43(10):1353-60, 2014
                                                                      2. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                                                      3. Katz R et al: Radiological aspects of Gaucher disease. Skeletal Radiol. 40(12):1505-13, 2011
                                                                      4. Boomsma JM et al: Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study. Blood Cells Mol Dis. 44(3):181-7, 2010
                                                                      5. Bubbar V et al: Total hip replacement in Gaucher's disease: effects of enzyme replacement therapy. J Bone Joint Surg Br. 91(12):1623-7, 2009
                                                                      6. Elstein D et al: Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 3:407-17, 2009
                                                                      7. Hollak CE et al: Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships. Expert Opin Pharmacother. 10(16):2641-52, 2009
                                                                      8. Parenti G: Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 1(5):268-79, 2009
                                                                      9. Vanhoenacker FM et al: Guidelines for Belgian MR centers for monitoring of bone marrow involvement in patients with Gaucher disease. JBR-BTR. 89(6):321-4, 2006
                                                                      10. Maas M et al: Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 229(2):554-61, 2003
                                                                      11. Maas M et al: Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 179(4):961-5, 2002