link
Bookmarks
Gaucher Disease
Kirkland W. Davis, MD, FACR; B. J. Manaster, MD, PhD, FACR
To access 4,300 diagnoses written by the world's leading experts in radiology.Try it free - 15 days
0
9
3
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Gaucher disease (GD): lysosomal storage disorder resulting in deposition of glucosylceramide in macrophages
            • Gaucher cell (GC): enlarged macrophage in GD

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Nuclear Medicine Findings

                      • DXA 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. Degnan AJ et al: Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. Insights Imaging. 10(1):70, 2019
                                            2. Hughes D et al: Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 34(6):996-1013, 2019
                                            3. 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
                                            4. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                            5. Simpson WL et al: Imaging of Gaucher disease. World J Radiol. 6(9):657-68, 2014
                                            6. Katz R et al: Radiological aspects of Gaucher disease. Skeletal Radiol. 40(12):1505-13, 2011
                                            7. 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
                                            8. 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
                                            9. Elstein D et al: Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 3:407-17, 2009
                                            10. 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
                                            11. Parenti G: Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 1(5):268-79, 2009
                                            12. 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
                                            13. 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
                                            14. 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
                                            Loading...
                                            Related Differential Diagnoses
                                            Loading...
                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Gaucher disease (GD): lysosomal storage disorder resulting in deposition of glucosylceramide in macrophages
                                                      • Gaucher cell (GC): enlarged macrophage in GD

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              • Nuclear Medicine Findings

                                                                • DXA 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. Degnan AJ et al: Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. Insights Imaging. 10(1):70, 2019
                                                                                      2. Hughes D et al: Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 34(6):996-1013, 2019
                                                                                      3. 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
                                                                                      4. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                                                                      5. Simpson WL et al: Imaging of Gaucher disease. World J Radiol. 6(9):657-68, 2014
                                                                                      6. Katz R et al: Radiological aspects of Gaucher disease. Skeletal Radiol. 40(12):1505-13, 2011
                                                                                      7. 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
                                                                                      8. 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
                                                                                      9. Elstein D et al: Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 3:407-17, 2009
                                                                                      10. 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
                                                                                      11. Parenti G: Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 1(5):268-79, 2009
                                                                                      12. 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
                                                                                      13. 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
                                                                                      14. 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