Enfermedad de Wilson: experiencia pediátrica en Costa Rica

Abstract

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. We performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006. 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. 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.