Perinatal Idiopathic Hemochromatosis: Giant Cell Hepatitis Interpreted as an Inborn Error of Metabolism

Abstract

Two unrelated pairs of male siblings who died shortly after birth were observed to have a lesion of the liver, containing multinucleated giant cells and massive hemo-siderin accumulation. The similarity of the pattern of hemosiderin deposition, with its presence in the epithelium of the liver and pancreas, and its absence or rarity in the spleen to that of adult idiopathic hemo-chromatosis, suggests the possibility of a perinatal idiopathic hemochromatosis; It is postulated that an inborn error of metabolism, as enunciated by Garrod in other diseases more than 50 years ago, exists in this entity, which involved specific gene-enzyme defects affecting the role of glutathione in the iron-incorporating-enzyme-system of the liver, thus leading to the accumulation of iron in the liver. By the use of the criteria delineated, the separation of a certain segment of hepatic lesions from others now called giant cell hepatitis is considered possible.