Neonatální(perinatální) hemochromatóza

Neonatal(Perinatal) Hemochromatosis

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 organssimilarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders aredifferent, however. All the cases showed a characteristic liver damage with heavy iron deposits inthe liver cells, lobular disarray and intralobular fibrosis, tendency towards multinuclear hepato-cyte formation, ultimately resulting in pigmented cirrhosis and liver failure. In five instances thecirrhosis present was atrophic, in one case it was hepatomegalic. Death occurred prenatally inone case (31 st week), perinatally in three, and two cases died as young infants. The mechanism ofthe liver disorder, mainly that of iron accumulation, has remained unresolved. Extrahepatally,hemosiderosis affected various epithelia (in particular, thyreocytes, renal distal tubular epitheliaand those of pancreatic acini) and myocardial cells which, however, did not show any damage. Intwo instances the placenta was conspicuously hyperplastic, in one case it showed prominenthydropic transformation of its villi. In one case there was simultaneous cytomegaly. Entitieswhich must be considered in the differential diagnosis of neonatal hemochromatosis because ofconsiderable hepatic and extrahepatic iron accumulation have been discussed.

Key words:
neonatology - hemochromatosis - histopathology - differential diagnosis