Hepatology 1981 Jan-Feb;1(1):58-64

Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glands

Goldfischer S, Grotsky HW, Chang CH, Berman EL, Richert RR, Karmarkar SD,
Roskamp JO, Morecki R 
Abstract
Autopsy studies of two infants, one a newborn, the other 4 months old, revealed
massive amounts of iron in lysosomes of hepatocytes and pancreatic acinar cells.
Iron, which had been transported across the placenta, accumulated in the same
cell types as in adults with primary and secondary hemochromatosis. Hemosiderin
was found in cardiac muscle cells, gastric and intestinal glands, and endocrine
and exocrine organs including pituitary, thyroid, adrenals, islets of
Langerhans, and sublingual and sweat glands. The liver was the most affected
organ and the normal hepatic architecture was replaced by hepatocytes which were
arranged in cluster, pseudoacinar structures, and multinucleated giant cells
embedded in a collagen matrix. The islets of Langerhans were hyperplastic and
hypertrophic. Ten similar cases, in five families, have been described; no
patients liver longer than 4 months. Neonatal iron storage disease is clinically
and pathologically distinct from Zellweger's cerebrohepatorenal syndrome and
hypermethioninemia (tyrosinemia) neonatal diseases in which large stores of iron
are present in hepatocytes. No abnormalities in serum iron, ferritin, or
transferrin concentrations were detected in five parents of the affected
children