Abstract
Two unrelated girls aged 5.5 and 8 years were accidentally found to have hepatopathy and hepatomegaly. Various tests for serological, immunological, and metabolic diseases, including assessment of the ceruloplasmin and urinary copper concentrations, yielded negative results.
Histological examination of liver biopsies showed varying degrees of steatosis and fibrosis in both girls. The copper concentration in dry liver specimens fulfilled the criteria for Wilson's disease (WD).
Genetic examination identified two pathogenic mutations in the ATP7B gene in both girls. WD was diagnosed, and therapy with chelating agents was initiated, which had good effects.
These case reports emphasize that up to 20% of pediatric and adult WD patients have normal ceruloplasmin and urinary copper levels. The new diagnostic and therapeutic recommendations for pediatric WD issued by the European Society of Pediatric Gastroenterology, Hepatology, and Nutrition are summarized.