Autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a characteristic liver damage with heavy iron deposits in the liver cells, lobular disarray and intralobular fibrosis, tendency towards multinuclear hepato- cyte formation, ultimately resulting in pigmented cirrhosis and liver failure. In five instances the cirrhosis present was atrophic, in one case it was hepatomegalic. Death occurred prenatally in one case (31 st week), perinatally in three, and two cases died as young infants. The mechanism of the liver disorder, mainly that of iron accumulation, has remained unresolved. Extrahepatally, hemosiderosis affected various epithelia (in particular, thyreocytes, renal distal tubular epithelia and those of pancreatic acini) and myocardial cells which, however, did not show any damage. In two instances the placenta was conspicuously hyperplastic, in one case it showed prominent hydropic transformation of its villi. In one case there was simultaneous cytomegaly. Entities which must be considered in the differential diagnosis of neonatal hemochromatosis because of considerable hepatic and extrahepatic iron accumulation have been discussed.

        Key words: neonatology - hemochromatosis - histopathology - differential diagnosis