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Pathology
Copper accumulation in liver and brain
Aetiology
Autosomal recessive condition, which causes impaired cellular copper transportation, usually young (usually around 16 years old).
Signs
Jaundice, Kayser-Fleischer rings, tremor, parkinsonism, cerebellar and pyramidal signs
Symptoms
Depression, tremor, jaundice if cirrhotic
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
Prognosis
Successful liver transplant can cure the condition
Cirrhosis, psychiatric illness, liver failure
Key Facts
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Key Images
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Key References
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