NEUROLOGIC PRESENTATION OF WILSON DISEASE WITHOUT KAYSER-FLEISCHER RINGS

A 41-year-old woman presented with a 6-month history of gradually prog ressive postural instability and dysarthria associated with cerebellar and extrapyramidal signs. No Kayser-Fleischer (K-F) rings were observ ed on biomicroscopic examination of each cornea. The only evidence of hepatic dysfunction was a modest elevation of alanine-aminotransferase . The diagnosis of Wilson disease (WD) was based on low serum cerulopl asmin, abnormal serum copper and urinary copper excretion, and DNA mar ker segregation analysis. WD should be considered in the presence of c haracteristic neurologic and laboratory features, regardless of age at onset, evidence of hepatic dysfunction, or absence of K-F rings.