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Gaucher Disease
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Enzyme replacement therapy (ERT), avascular necrosis (AVN)
              • Synonyms

                • Glucocerebrosidase, acid beta-glucosidase, glucosylceramidase
              • Definitions

                • Lipid storage disease resulting from deficiency of lysosomal glucocerebrosidase → glucocerebroside deposition in macrophages (Gaucher cells)

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Nuclear Medicine Findings

                          • Imaging Recommendations

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Staging, Grading, & Classification

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              Selected References

                                              1. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                              2. Razek AA et al: Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol. 42(2):283-7, 2013
                                              3. Javier RM et al: Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int. 22(4):1255-61, 2011
                                              4. Poll LW et al: Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement. Blood Cells Mol Dis. 46(1):53-9, 2011
                                              5. Rossi L et al: Bone involvement as presenting sign of pediatric-onset Gaucher disease. Joint Bone Spine. 78(1):70-4, 2011
                                              6. Ozcan HN et al: Severe skeletal involvement in a patient with Gaucher's disease. J Orthop Sci. 14(4):465-8, 2009
                                              7. Roca M et al: S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 62(1):132-7, 2007
                                              8. Spitz M et al: Parkinsonism in type 1 Gaucher's disease. J Neurol Neurosurg Psychiatry. 77(5):709-10, 2006
                                              9. 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
                                              10. Olsen E ØE et al: Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol. 33(11):782-5, 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
                                              12. Vlieger EJ et al: Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr. 26(5):843-8, 2002
                                              13. Dolen EG et al: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 27(6):514-6, 1997
                                              14. Hill SC et al: Radiographic findings in type 3b Gaucher disease. Pediatr Radiol. 26(12):852-60, 1996
                                              15. Hill SC et al: MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr. 17(5):806-9, 1993
                                              16. Katz K et al: Spinal involvement in children and adolescents with Gaucher disease. Spine (Phila Pa 1976). 18(3):332-5, 1993
                                              17. Schwartz AM et al: "Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. AJR Am J Roentgenol. 132(1):81-5, 1979
                                              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

                                                            • Enzyme replacement therapy (ERT), avascular necrosis (AVN)
                                                          • Synonyms

                                                            • Glucocerebrosidase, acid beta-glucosidase, glucosylceramidase
                                                          • Definitions

                                                            • Lipid storage disease resulting from deficiency of lysosomal glucocerebrosidase → glucocerebroside deposition in macrophages (Gaucher cells)

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Ultrasonographic Findings

                                                                    • Nuclear Medicine Findings

                                                                      • Imaging Recommendations

                                                                        DIFFERENTIAL DIAGNOSIS

                                                                          PATHOLOGY

                                                                          • General Features

                                                                            • Staging, Grading, & Classification

                                                                              • Microscopic Features

                                                                                CLINICAL ISSUES

                                                                                • Presentation

                                                                                  • Demographics

                                                                                    • Natural History & Prognosis

                                                                                      • Treatment

                                                                                        DIAGNOSTIC CHECKLIST

                                                                                        • Consider

                                                                                          Selected References

                                                                                          1. Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
                                                                                          2. Razek AA et al: Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol. 42(2):283-7, 2013
                                                                                          3. Javier RM et al: Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int. 22(4):1255-61, 2011
                                                                                          4. Poll LW et al: Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement. Blood Cells Mol Dis. 46(1):53-9, 2011
                                                                                          5. Rossi L et al: Bone involvement as presenting sign of pediatric-onset Gaucher disease. Joint Bone Spine. 78(1):70-4, 2011
                                                                                          6. Ozcan HN et al: Severe skeletal involvement in a patient with Gaucher's disease. J Orthop Sci. 14(4):465-8, 2009
                                                                                          7. Roca M et al: S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 62(1):132-7, 2007
                                                                                          8. Spitz M et al: Parkinsonism in type 1 Gaucher's disease. J Neurol Neurosurg Psychiatry. 77(5):709-10, 2006
                                                                                          9. 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
                                                                                          10. Olsen E ØE et al: Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol. 33(11):782-5, 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
                                                                                          12. Vlieger EJ et al: Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr. 26(5):843-8, 2002
                                                                                          13. Dolen EG et al: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 27(6):514-6, 1997
                                                                                          14. Hill SC et al: Radiographic findings in type 3b Gaucher disease. Pediatr Radiol. 26(12):852-60, 1996
                                                                                          15. Hill SC et al: MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr. 17(5):806-9, 1993
                                                                                          16. Katz K et al: Spinal involvement in children and adolescents with Gaucher disease. Spine (Phila Pa 1976). 18(3):332-5, 1993
                                                                                          17. Schwartz AM et al: "Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. AJR Am J Roentgenol. 132(1):81-5, 1979