Pathology:, Copper accumulation in liver and brain
Aetiology: Autosomal recessive condition, which causes impaired cellular copper transportation, usually young (usually around 16 years old).
Symptoms: Depression, tremor, jaundice if cirrhotic
Signs: Jaundice, Kayser-Fleischer rings, tremor, parkinsonism, cerebellar and pyramidal signs
Investigations: Bloods: Decreased serum ceruloplasmin.
Urine: Increased 24 hour urinary copper collection
Liver Biopsy: Increased hepatic copper concentration
Treatment: Medical: Lifelong Copper chelation therapy (penicillamine and trientine)
Surgical: Liver transplantation
Complications: Cirrhosis, psychiatric illness, liver failure
Prognosis: Successful liver transplant can cure the condition
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