Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate

Simone Schüller, Andishe Attarbaschi, Angelika Berger, Caroline Hutter, Katrin Klebermass-Schrehof, Manuel Steiner

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)462-467
Number of pages6
JournalPediatric Hematology and Oncology
Volume33
Issue number7-8
DOIs
Publication statusPublished - 16 Nov 2016
Externally publishedYes

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