Indian childhood cirrhosis is a fatal liver disease characterized by a striking accumulation of copper-containing granules within hepatocytes. A two-year-old American boy, the product of a third-cousin marriage, with clinical, biochemical, and histological signs of Indian childhood cirrhosis was studied. Liver biopsies at 22 and 30 months of age revealed a rapid progression from fibrosis to micronodular cirrhosis, with many of the remaining hepatocytes staining strongly for copper and copper-binding proteins. Electron microscopy showed characteristic dense granules containing copper and sulfur by electron probe analysis. Hepatic copper content was 1500 μg/g dry weight (normal, 20-50). Urinary copper was 3.6 μmol/d (229 μg/24 hours; normal, 15-20), and serum ceruloplasmin was 352 mg/L (normal, 150-320). The case suggests that both genetic and environmental components contribute to the manifestations of Indian childhood cirrhosis, and that the diagnosis of Indian childhood cirrhosis should be considered even in non-Indian infants with progressive liver disease.
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