Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate. (16th November 2016)

• Record Type: Journal Article
• Authors: Schüller, Simone; Attarbaschi, Andishe; Berger, Angelika; Hutter, Caroline; Klebermass-Schrehof, Katrin; Steiner, Manuel
• Is Part Of: Pediatric hematology and oncology. Volume 33:Number 7/8(2016)
• Page Start: 462
• Page End: 467
• Publication Date: 2016-11-16
• Subjects: Gaucher disease -- hemophagocytic lymphohistiocytosis -- preterm neonate; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Hematologic Diseases -- Child; Hematologic Diseases -- Infant; Neoplasms -- Child; 618.9215
• DOI: 10.1080/08880018.2016.1234011
• Languages: English
• ISSNs: 0888-0018

Abstract

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.