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Wilson Disease
Michael P. Federle, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Wilson disease (WD)
            • Synonyms

              • Hepatolenticular degeneration
            • Definitions

              • Autosomal recessive disorder in which copper (Cu) accumulates pathologically
                • Primarily within liver and subsequently in neurologic system and other tissues

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    Selected References

                                    1. Schilsky ML: Liver transplantation for Wilson's disease. Ann N Y Acad Sci. 1315:45-9, 2014
                                    2. Weiss KH et al: Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci. 1315:81-5, 2014
                                    3. Eapen CE: Copper and liver disease. Gut. 61(1):63, 2012
                                    4. Bennett J et al: Clinical molecular diagnosis of Wilson disease. Semin Liver Dis. 31(3):233-8, 2011
                                    5. Harada M et al: Excess copper chelating therapy for Wilson disease induces anemia and liver dysfunction. Intern Med. 50(14):1461-4, 2011
                                    6. Johncilla M et al: Pathology of the liver in copper overload. Semin Liver Dis. 31(3):239-44, 2011
                                    7. Cheon JE et al: Clinical application of liver MR imaging in Wilson's disease. Korean J Radiol. 11(6):665-72, 2010
                                    8. Rosencrantz R et al: Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 31(3):245-59, 2011
                                    9. Cheng F et al: Outcomes of living-related liver transplantation for Wilson's disease: a single-center experience in China. Transplantation. 87(5):751-7, 2009
                                    10. Mak CM et al: Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 45(3):263-90, 2008
                                    11. Tarnacka B et al: MR spectroscopy in monitoring the treatment of Wilson's disease patients. Mov Disord. 23(11):1560-6, 2008
                                    12. Akhan O et al: Unusual imaging findings in Wilson's disease. Eur Radiol. 12 Suppl 3:S66-9, 2002
                                    13. Ko S et al: Unusual liver MR findings of Wilson's disease in an asymptomatic 2-year-old girl. Abdom Imaging. 23(1):56-9, 1998
                                    14. Garg RK et al: Wilson's disease: unusual clinical and radiological features. J Assoc Physicians India. 42(3):253-4, 1994
                                    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

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Wilson disease (WD)
                                              • Synonyms

                                                • Hepatolenticular degeneration
                                              • Definitions

                                                • Autosomal recessive disorder in which copper (Cu) accumulates pathologically
                                                  • Primarily within liver and subsequently in neurologic system and other tissues

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      Selected References

                                                                      1. Schilsky ML: Liver transplantation for Wilson's disease. Ann N Y Acad Sci. 1315:45-9, 2014
                                                                      2. Weiss KH et al: Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci. 1315:81-5, 2014
                                                                      3. Eapen CE: Copper and liver disease. Gut. 61(1):63, 2012
                                                                      4. Bennett J et al: Clinical molecular diagnosis of Wilson disease. Semin Liver Dis. 31(3):233-8, 2011
                                                                      5. Harada M et al: Excess copper chelating therapy for Wilson disease induces anemia and liver dysfunction. Intern Med. 50(14):1461-4, 2011
                                                                      6. Johncilla M et al: Pathology of the liver in copper overload. Semin Liver Dis. 31(3):239-44, 2011
                                                                      7. Cheon JE et al: Clinical application of liver MR imaging in Wilson's disease. Korean J Radiol. 11(6):665-72, 2010
                                                                      8. Rosencrantz R et al: Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 31(3):245-59, 2011
                                                                      9. Cheng F et al: Outcomes of living-related liver transplantation for Wilson's disease: a single-center experience in China. Transplantation. 87(5):751-7, 2009
                                                                      10. Mak CM et al: Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 45(3):263-90, 2008
                                                                      11. Tarnacka B et al: MR spectroscopy in monitoring the treatment of Wilson's disease patients. Mov Disord. 23(11):1560-6, 2008
                                                                      12. Akhan O et al: Unusual imaging findings in Wilson's disease. Eur Radiol. 12 Suppl 3:S66-9, 2002
                                                                      13. Ko S et al: Unusual liver MR findings of Wilson's disease in an asymptomatic 2-year-old girl. Abdom Imaging. 23(1):56-9, 1998
                                                                      14. Garg RK et al: Wilson's disease: unusual clinical and radiological features. J Assoc Physicians India. 42(3):253-4, 1994