Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate |
| |
Authors: | Simone Schüller Andishe Attarbaschi Angelika Berger Caroline Hutter Katrin Klebermass-Schrehof Manuel Steiner |
| |
Affiliation: | 1. Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care Medicine and Neuropediatrics, Medical University of Vienna, Vienna, Austria;2. 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. |
| |
Keywords: | Gaucher disease hemophagocytic lymphohistiocytosis preterm neonate |
|
|