Neonatal Hemochromatosis
Matthew M. Yeh, MD, PhD
Key Facts
Clinical Issues
Intrauterine growth retardation, oligohydramnios, stillborn or premature birth
Liver and multiorgan failure
Abnormal iron studies
Macroscopic Features
Shrunken liver
Cirrhosis
Microscopic Pathology
Marked lobular necrosis with collapse, regenerative nodules
Giant hepatocytes
Iron deposition in hepatocytes and ductules as well as in organs outside of liver
Top Differential Diagnoses
Viral infection, neonatal lupus, tyrosinemia
 A case of neonatal hemochromatosis shows lobular necrosis and collapse of the hepatocellular cords with residual hepatocytes and bile ductules  . |
 Perl iron stain shows marked iron deposition  within the hepatocytes. |
TERMINOLOGY
Abbreviations
Neonatal hemochromatosis (NH)
Synonyms
Congenital hemochromatosis
Neonatal iron storage disease
Definitions
Severe liver disease with iron overload in liver and other organs (distribution similar to hereditary hemochromatosis)
Fetal or perinatal onset
Without hereditary hemochromatosis gene mutation
ETIOLOGY/PATHOGENESIS
Alloimmune Liver Injury
Transplacental transfer of maternal IgG leads to complement-mediated attack on fetal hepatocytes; antigen is still unknown
