Wilson's Disease in Childhood

Abstract

Although Wilson's Disease is a treatable disorder, 9 of 15 cases referred with undiagneased liver disease in the present series died in 3 to 53 days of admission. We have reviewed these cases to identify features that would allow earlier diagnosis and improvement in management. The presenting symptoms were lethargy and malaise (11 cases), jaundice (11), abdominal pain (9), and deteriorating school performance (4). At diagnosis, all fatal cases had jaundice and ascites, while only one of the 6 survivors had ascites and two had jaundice. Evidence of hemolysis was found in 3 fatal cases and 5 survivors. Serum bilirubin concentrations, aspartate trans aminase, and prolongation of prothrombin time were significantly more abnormal in the fatal cases (p < 0.01) as compared with the survivors. Cirrhosis was present in all fatal cases and in 2 off the 6 survivors. Wilson's Disease must be excluded in children presenting with frank liver disease as well as those with hemolytic anemia, persisting lethargy, abdominal pain, or dete riorating school performance.