ABSTRACT
Wilson's disease is a rare but treatable condition with variable clinical presentations. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the clinical and laboratory findings in children with Wilson's disease [WD]. Twenty-seven children [4-14 years, 59.2% male, 40.7% female] with confirmed WD were evaluated between 1994 and 2003 at Imam Khomeini Hospital. Seventeen patients [64%] presented with liver abnormalities, 3[11%] with neurological features, 3[11%] with fulminant hepatic failure and 4[14%] were asymptomatic siblings of patients with WD. The presence of Kayser Fleischer rings, high urine copper excretion, low ceruloplasmin level, and elevated liver copper concentration were detected in 51.8%, 77.7%, 92.5% and 72.7% of patients respectively. We emphasize on clinical findings together with one or more laboratory findings as a diagnostic guide in WD and also recommend evaluation of serum ceruloplasmin level and 24 hour urine copper excretion particularly when liver biopsy may not be obtained