“Face of the Giant Panda” Sign in Wilson Disease

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder caused by mutations of the Wilson disease (ATP7B) protein produced by chromosome 13. It manifests with an inability to excrete copper in bile, and copper deposition in liver, brain, and other organs. Clinical signs and symptoms include liver function and psychiatric disorders. Although copper accumulation mostly occurs in the basal ganglia, it may involve all parts of the brain. Brain magnetic resonance imaging (MRI) is a useful diagnostic tool and helps determine disease severity and treatment response (1,2,3).