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
Guglielmo FF et al: Liver MR elastography technique and image interpretation: pearls and pitfalls. Radiographics. 39(7):1983-2002, 2019
Członkowska A et al: Wilson disease. Nat Rev Dis Primers. 4(1):21, 2018
Salari M et al: Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease. J Res Med Sci. 23:23, 2018
Stättermayer AF et al: Hepatic steatosis in Wilson disease--role of copper and PNPLA3 mutations. J Hepatol. 63(1):156-63, 2015
Schilsky ML: Liver transplantation for Wilson's disease. Ann N Y Acad Sci. 1315:45-9, 2014
Weiss KH et al: Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci. 1315:81-5, 2014
Eapen CE: Copper and liver disease. Gut. 61(1):63, 2012
Bennett J et al: Clinical molecular diagnosis of Wilson disease. Semin Liver Dis. 31(3):233-8, 2011
Harada M et al: Excess copper chelating therapy for Wilson disease induces anemia and liver dysfunction. Intern Med. 50(14):1461-4, 2011
Johncilla M et al: Pathology of the liver in copper overload. Semin Liver Dis. 31(3):239-44, 2011
Cheon JE et al: Clinical application of liver MR imaging in Wilson's disease. Korean J Radiol. 11(6):665-72, 2010
Rosencrantz R et al: Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 31(3):245-59, 2011
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
Mak CM et al: Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 45(3):263-90, 2008
Tarnacka B et al: MR spectroscopy in monitoring the treatment of Wilson's disease patients. Mov Disord. 23(11):1560-6, 2008
Akhan O et al: Unusual imaging findings in Wilson's disease. Eur Radiol. 12 Suppl 3:S66-9, 2002
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
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
Guglielmo FF et al: Liver MR elastography technique and image interpretation: pearls and pitfalls. Radiographics. 39(7):1983-2002, 2019
Członkowska A et al: Wilson disease. Nat Rev Dis Primers. 4(1):21, 2018
Salari M et al: Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease. J Res Med Sci. 23:23, 2018
Stättermayer AF et al: Hepatic steatosis in Wilson disease--role of copper and PNPLA3 mutations. J Hepatol. 63(1):156-63, 2015
Schilsky ML: Liver transplantation for Wilson's disease. Ann N Y Acad Sci. 1315:45-9, 2014
Weiss KH et al: Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci. 1315:81-5, 2014
Eapen CE: Copper and liver disease. Gut. 61(1):63, 2012
Bennett J et al: Clinical molecular diagnosis of Wilson disease. Semin Liver Dis. 31(3):233-8, 2011
Harada M et al: Excess copper chelating therapy for Wilson disease induces anemia and liver dysfunction. Intern Med. 50(14):1461-4, 2011
Johncilla M et al: Pathology of the liver in copper overload. Semin Liver Dis. 31(3):239-44, 2011
Cheon JE et al: Clinical application of liver MR imaging in Wilson's disease. Korean J Radiol. 11(6):665-72, 2010
Rosencrantz R et al: Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 31(3):245-59, 2011
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
Mak CM et al: Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci. 45(3):263-90, 2008
Tarnacka B et al: MR spectroscopy in monitoring the treatment of Wilson's disease patients. Mov Disord. 23(11):1560-6, 2008
Akhan O et al: Unusual imaging findings in Wilson's disease. Eur Radiol. 12 Suppl 3:S66-9, 2002
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
Garg RK et al: Wilson's disease: unusual clinical and radiological features. J Assoc Physicians India. 42(3):253-4, 1994
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