title: Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate.
abstract: OBJECTIVE
  To present the diagnostic workup in an extremely low birth weight infant patient with signs of both sepsis and hemophagocytosis.
  
  
  METHODS
  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.
authors.affiliation: a Department of Pediatrics and Adolescent Medicine, Division of Neonatology , Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna , Vienna , Austria.
authors.forename: Simone
authors.initials: S
authors.lastname: Schüller
authors.affiliation: b Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine , Medical University of Vienna , Vienna , Austria.
authors.forename: Andishe
authors.initials: A
authors.lastname: Attarbaschi
authors.affiliation: a Department of Pediatrics and Adolescent Medicine, Division of Neonatology , Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna , Vienna , Austria.
authors.forename: Angelika
authors.initials: A
authors.lastname: Berger
authors.affiliation: b Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine , Medical University of Vienna , Vienna , Austria.
authors.forename: Caroline
authors.initials: C
authors.lastname: Hutter
authors.affiliation: a Department of Pediatrics and Adolescent Medicine, Division of Neonatology , Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna , Vienna , Austria.
authors.forename: Katrin
authors.initials: K
authors.lastname: Klebermass-Schrehof
authors.affiliation: a Department of Pediatrics and Adolescent Medicine, Division of Neonatology , Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna , Vienna , Austria.
authors.forename: Manuel
authors.initials: M
authors.lastname: Steiner
mesh_terms: D005776:Gaucher Disease / Q000097:blood / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007234:Infant, Premature; D051359:Lymphohistiocytosis, Hemophagocytic / Q000097:blood / Q000209:etiology / Q000503:physiopathology; D008297:Male
keywords: Gaucher disease; hemophagocytic lymphohistiocytosis; preterm neonate