evaluation of laboratory findings in children with wilson's disease in ema m khomeini hospital during 1994-2003

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.