Wilson disease

  • hepatolenticular degeneration
  • autosomal recessive
  • excess copper retention
  • chromosome 13 alteration – liver unable to excrete copper into bile
  • 7-50 years
  • hepatic findings in children
  • neuropsychiatric findings in adults
Stage 1 asymptomatic copper accumulation in liver cytosol
Stage 2 redistribution of copper from hepatic lysosomes. when gradual it is asymptomatic, if rapid redistribution, presents with fulminant hepatic failure or acute intravascular hemolysis
Stage 3cirrhosis, neurologic, ophthalmic, renal dysfunction
clinical picture and imaging
  • tremors, rigidity, dysarthria, dysphagia
  • intellectual impairment, emotional disturbance
  • jaundice, portal hypertension
  • Kayser-Fleischer ring – green pigmentation around limbus cornea
  • generalized deossification and secondary pathological fractures
  • knees, hips, wrists, 2-4th MCP joints
  • subarticular cysts, early osteoarthritis, chonedrocalcinosis,
  • basal ganglia and thalami T1 and T2 prolongation, hypo attenuation in CT
  • elevated copper in serum ceruloplasmin