Wilson's Disease

Original article by Tom Leach | Last updated on 24/2/2015
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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)