Background: Costa Rica is known to have a relatively high prevalence of Wilson's disease (WD). The present study describes the clinical presentation and demographic characteristics of patients diagnosed with WD at the Country's National Pediatric Hospital.
Methods: We performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006.
Results: Thirty-five patients were diagnosed with WD and 69% were male (n=24). Age at presentation was 10+/-2 years (range, 5-15). Clinical presentation included hepatic features in 69% (n=24), hematological features in 11% (n=4) and neurological features in 3% (n=1). Six patients (17%) were asymptomatic siblings. Six children (17%) died from fulminant hepatic failure. Liver biopsies were performed in 21 patients (60%), showing cirrhosis in five. Five patients underwent liver transplantation due to acute liver failure.
Conclusions: WD should be suspected in children with chronically abnormal liver function tests. The clinical presentation of autochthonous patients was similar to that in children diagnosed in other countries.