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Inheritance

  • Autosomal recessive

Pathology

Copper incorporation into caeruloplasmin in hepatocytes and and its excretion into bile is impaired so copper is deposited into organs (firstly liver, then basal ganglia)

Clinical

  • Presents in children with liver failure/jaundice
  • Presents in young adults with CNS signs e.g. ataxia, tremor, dysarthria
  • Eyes: kayser fleischer rings (gold ring around iris)

Investigations

  • 24 hr urinary copper excretion high
  • Serum copper and caeruloplasmin levels low
  • Liver Biopsy
  • MRI: basal ganglia degeneration

Management

  • Life long Penicillamine (copper chelation)

 

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