Simone Schüller1, Andishe Attarbaschi2, Angelika Berger1, Caroline Hutter2, Katrin Klebermass-Schrehof1, Manuel Steiner1. 1. a Department of Pediatrics and Adolescent Medicine, Division of Neonatology , Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna , Vienna , Austria. 2. b Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine , Medical University of Vienna , Vienna , Austria.
Abstract
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.
OBJECTIVE: To present the diagnostic workup in an extremely low birth weight infantpatient 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.