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Wilson's disease (WD) is an inborn error of copper metabolism with an autosomal recessive pattern of inheritance. It is caused by ATP7B mutation leading to abnormal accumulation of copper in various tissues, particularly the liver and the brain. MRI abnormalities occur in virtually 100% of patients with neurological dysfunction.1 The classical MRI findings include the face of a giant panda sign, the face of a miniature panda sign and bright claustrum signs.
This case illustrates a 16-year-old boy born of non-consanguinity with normal birth and development studying in the seventh standard presented with progressive neurological illness in the form of generalised dystonia involving all four limbs and a face with fixed vacant smile (risus sardonicus) for past 2 years. He had rest as well as kinetic limb tremor and cognitive impairment predominantly affecting executive function and memory with positive …
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