Henry Ford Hospital Medical Journal


We report the clinicopathologic features of an infant who died of a rare form of perinatal cirrhosis associated with idiopathic hepatic and extrahepatic parenchymal siderosis. The infant appeared normal at birth but soon became severely ill, following a progressively downhill course associated with hypoglycemia, metabolic acidosis, bleeding diathesis, jaundice, and shock. The infant died at 7 days of age. The manifestations were those of hepatic failure but mimicked sepsis and disseminated intravascular coagulation. Cirrhosis, giant cell transformation, and parenchymal iron deposition characteristic of perinatal idiopathic hemochromatosis, a recently emerging clinicopathologic entity of unknown etiology, were present in this infant. These clinical and pathologic features differ from other neonatal liver diseases in their acute onset immediately after birth, a catastrophic clinical course ending fatally, and the morphologic manifestation of significant iron overload.