An unusual presentation of galactosemia: Hemophagocytic lymphohistiocytosis

• Published in: Turkish Journal of Hematology
• Main Authors: Ahmet Afşin Kundak, Ayşegül Zenciroğlu, Neşe Yaralı, Belma Saygılı Karagöl, Arzu Dursun, Selim Gökçe, Nilgün Karadağ, Nurullah Okumuş
• Format: Article
• Language: English
• Published: Turkish Society of Hematology 2012-12-01
• Subjects: hemophagocytic lymphohistiocytosis; galactosemia; newborn
• Online Access: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-65148

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult. It may presents in many forms such as fever of unknown origin, hepatitis, acute liver failure, and sepsis-like illness. Here we present a newborn galactosemia case presented with HLH. Close monitoring of the diagnostic criteria of HLH during the course of galactosemia-associated hemophagocytosis, both before and after dietary treatment, should be performed in order to fully determine if the triggering mechanism is infection or accumulation of metabolites.