NEONATAL HEMOCHROMATOSIS, RENAL TUBULAR DYSGENESIS, AND HYPOCALVARIA IN A NEONATE

We report a neonate with neonatal hemochromatosis (NH), renal tubular dysgenesis (RTD), and hypocalvaria. NH is a fatal condition of the new born, characterized by severe idiopathic liver failure of intrauterine onset and siderosis, intra- and extrahepatic, with sparing of the ret iculoendothelial system. RTD is characterized by short, abnormally dev eloped cortical tubules that lack proximal tubule differentiation. Alt hough both NH and RTD have been reported as entities with a genetic co mponent, similar findings can be secondary to in utero insults. Hypoca lvaria has been reported in association with fetal hypoxia including t hat secondary to angiotensin converting enzyme inhibitors. This 38-wee k-old infant died at 8.5 h. The small nodular liver weighed 44 g. Gros sly, the kidneys were normal. Hypocalvaria was present. Microscopicall y, the hepatic parenchyma was distorted by fibrous tracts, proliferati on of bile ducts, and abundant iron deposition in hepatocytes. Extrahe patic siderosis in the pancreas, myocardium, and other organs was cons istent with NH. Proximal convoluted tubules were not seen on routine s tains and markers for proximal tubules were negative. Previous reports have linked NH with RTD and RTD with hypocalvaria. This infant had al l three of these rare conditions, which have been hypothesized or show n to be due to genetic factors, hypoxia, or drugs. The etiology in thi s case is unknown.