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Wilson's Disease

Summary

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  • Autosomal recessive disorder of copper metabolism
  • Characterised by excessive copper accumulation in various organs, primarily liver and brain
  • Imaging findings include basal ganglia abnormalities and hepatic cirrhosis

Pathophysiology

  • Caused by mutations in ATP7B gene on chromosome 13
    • Impaired biliary copper excretion
    • Reduced incorporation of copper into ceruloplasmin
  • Results in toxic accumulation of copper in liver, brain, cornea, and other organs

Demographics

  • Worldwide prevalence: 1 in 30,000 to 1 in 100,000
  • No gender predilection
  • Higher prevalence in certain populations (e.g., Sardinia, Eastern Asia)

Diagnosis

  • Clinical presentation:
    • Hepatic dysfunction
    • Neurological symptoms (e.g., tremor, dysarthria, dystonia)
    • Psychiatric disturbances
    • Kayser-Fleischer rings in cornea
  • Laboratory findings:
    • Low serum ceruloplasmin
    • Elevated 24-hour urinary copper excretion
    • Elevated hepatic copper concentration on liver biopsy
  • Genetic testing for ATP7B mutations

Imaging

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  • A 25-year-old male presented 6 months prior with dysarthria, dystonia and cirrhosis.
  • Imaging showed patchy hyperintensity in the deep grey nuclei and brainstem.
  • SWI showed hypointensity in the globi pallidi.

Treatment

  • Copper chelation therapy:
    • D-penicillamine
    • Trientine
  • Zinc supplementation to reduce copper absorption
  • Dietary copper restriction
  • Liver transplantation for severe hepatic dysfunction or fulminant liver failure
  • Symptomatic management of neurological and psychiatric manifestations
  • Family screening and genetic counselling

Differential diagnosis

Differential Diagnosis Differentiating Feature
Acquired hepatocerebral degeneration Bilateral symmetric T1 hyperintensity of globi pallidi; T2 hyperintensity in basal ganglia and white matter; no SWI hypointensity in copper-specific distribution
Leigh disease Symmetric T2 hyperintensity in basal ganglia and brainstem periaqueductal grey; putamen and caudate involvement; no SWI hypointensity
Japanese encephalitis / flaviviral encephalitis Bilateral thalamic and basal ganglia T2 hyperintensity; may show haemorrhage and restricted diffusion