Abstract
A preterm infant with very low birth weight was born with fetal onset familial hemophagocytic lymphohistiocytosis. Known gene abnormalities responsible for the disease were not identified in the patient. The infant died at 13 months of age owing to complications from cord blood stem cell transplantation. We found selectively elevated expression of interleukin-6 and chemokines in the cord blood of the patient. We also reviewed 7 other preterm cases of congenital hemophagocytic lymphohistiocytosis to highlight the significance of this condition, as it can cause ascites and hepatosplenomegaly in utero and be mistaken for congenital infection in the fetus.
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