Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate.

OBJECTIVE: To present the diagnostic workup in an extremely low birth weight infant patient with signs of both sepsis and hemophagocytosis.

PARTICIPANTS: A preterm infant presented with clinical and laboratory signs of early-onset sepsis including hepatosplenomegaly, thrombocytopenia, direct hyperbilirubinemia, and elevated liver enzymes.

METHODS: Despite extensive septic workup, no underlying infection was detected. Additional hyperferritinemia and other elevated inflammatory parameters raised the suspicion of a primary or secondary hemophagocytic lymphohistiocytosis (HLH).

RESULTS: However, further metabolic analysis yielded a positive result for Gaucher disease (GD) type 2, a rare, but possible trigger of HLH.

CONCLUSIONS: Our case shows that GD may lead to the picture of a secondary HLH and that a metabolic workup should always be performed in patients in whom primary HLH has been excluded.