Wilson's disease

Question 1

Classical MRI sign of Wilson’s disease

Answer 1

Abnormal T2 hyperintensity in the putamina

Question 2

Presentation of Wilson’s disease

Answer 2

• Extrapyramidal symptoms, but no sensory involvement
  
  • Dysarthria
  • Drooling
  • Parkinsonism
  • Dystonia
  • Can have multiple types of tremor
• Psychiatric changes
• Cognitive impairment
• Liver disease

Question 3

Diagnosis of Wilson’s disease

Answer 3

• Elevated LFTs, low serum ceruloplasmin are for screening
• Slit lamp exam for Kayser-Fleisher rings
• Elevated free serum copper and 24-hour urine copper
• If all of the above negative, liver biopsy w/ copper staining
• Confirmation w/ genetic testing (ATP7B)

Question 4

Treatment of Wilson’s

Answer 4

• Copper chelaters:
  
  • Penicillamine + pyridoxine
  • Trientine
• Oral zinc (Copper antagonism)
• Liver transplant