Late manifestation of Indian childhood cirrhosis in a 3-year-old German girl

Abstract

We report on a 3.8-year-old German girl who presented with signs of subacute liver failure based on a 4-month history. Investigations done before admission excluded infectious, metabolic and immunological diseases. Laboratory findings were increased values of aminotransferases, hyperbilirubinaemia, hyperammonaemia and deteriorated plasmatic coagulation. Caeruloplasmin and serum copper concentrations were normal; however, urinary copper excretion was elevated (80 μg/l). Liver biopsy showed a micronodular liver cirrhosis and an extremely high liver copper concentration (1400 μg/g dry weight). Epidemiological investigations revealed an elevated copper concentration (8645 μg/l, normal: <2000) and a low pH value (6.3) of the drinking water supplied by copper pipes. The girl had been exposed to copper-contaminated drinking water since the age of 2 years.

Conclusion Laboratory, histopathological findings and a proven chronic copper intoxication lead to the diagnosis of Indian childhood cirrhosis in a German girl. Whereas this disease is mostly described in patients with increased copper intake in infancy, our patient developed toxic liver cirrhosis with relatively late copper exposure. Indian childhood cirrhosis should be considered in the differential diagnosis of early childhood liver cirrhosis.