Neonatal Hemochromatosis
Matthew M. Yeh, MD, PhD
Key Facts
Clinical Issues
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Intrauterine growth retardation, oligohydramnios, stillborn or premature birth
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Liver and multiorgan failure
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Abnormal iron studies
Macroscopic Features
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Shrunken liver
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Cirrhosis
Microscopic Pathology
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Marked lobular necrosis with collapse, regenerative nodules
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Giant hepatocytes
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Iron deposition in hepatocytes and ductules as well as in organs outside of liver
Top Differential Diagnoses
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Cytomegalovirus, echovirus, herpes simplex virus 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
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Neonatal hemochromatosis (NH)
Synonyms
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Congenital hemochromatosis
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Neonatal iron storage disease
Definitions
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Severe liver disease with iron overload in liver and other organs (distribution similar to hereditary hemochromatosis)
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Fetal or perinatal onset
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Without hereditary hemochromatosis gene mutation
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ETIOLOGY/PATHOGENESIS
Unknown
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Etiology remains unclear though alloimmune liver injury has been suggested
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