Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 20, 2011
Wilson's Disease
- Wilson's disease is a rare autosomal recessive, inborn error of copper metabolism characterized by abnormal accumulation of copper in various tissues, mainly in the brain and liver.
- Parkinsonism, tremor, ataxia, and dystonia are common clinical features. Presence of Kayser-Fleischer ring in the cornal limbus is diagnostic.
- Key imaging features: Bilateral, symmetric increased signal intensity on T2WI is most often seen involving the putamina. Similar bilateral abnormal signal intensity can be seen involving the caudate nuclei, thalami, red nuclei, and dentate nuclei. Both pyramidal and extrapyramidal white matter tracts can be involved. "Face of giant panda" and "bright claustral" signs are often seen.
- DDx: Hypoxic-ischemic encephalopathy
- Treatment: D-penicillamine, Vit E, Pyridoxine, Low Cu diet
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