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.