AN UNUSUAL PRESENTATION OF WILSON'S DISEASE

Abstract

Abstract :

        Wilson's disease is a neurodegenerative disease of   copper metabolism. Normal dietary consumption and       absorption of copper exceed the metabolic need, and       homeostasis of this element is maintained exclusively by the biliary excretion of copper. In Wilson's disease, the defective biliary excretion of copper leads to its accumulation,          particularly in liver and brain. The deposition of copper in tissues is the cause of virtually all the manifestations of the disease - cirrhosis, hemolytic anemia, renal tubular changes, Kayser-Fleischer rings and the cerebral damage. Here we present a case report of a young girl who presented to us with sudden onset of neuropsychiatric symptoms such as         involuntary twisting movements, abnormal postures and    cognitive impairment but without any form of hepatic        involvement - a fairly uncommon presentation of a rather familiar disease. Achieving a diagnosis of Wilson's disease is dependent on maintaining a high index of suspicion. This is very important because early initiation of treatment will cause significant reduction in morbidity and  mortality. Untreated Wilson's disease is universally fatal, with most patients dying from liver disease and a minority from complications of     progressive neurologic disease.

Keyword :Dystonia , Wilson's disease, Kayser Fleischer ring, Sunflower cataract.