Severe hepatic Wilson's disease in preschool-aged children

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegalgy, asc ites, and evidence of decompensated chronic liver disease. Genotypic DNA an alysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional ge ne product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver di sease in the preschool-aged child.