AN UNUSUAL PRESENTATION OF WILSON'S DISEASE

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.