An unusual presentation of galactosemia: Hemophagocytic lymphohistiocytosis Galaktozeminin sıradışı prezentasyonu: Hemofagositik lenfohistiyositozis

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Kundak A. A. , Zenciroǧlu A., Yarali N. , Karagöl B. S. , Dursun A., Gökçe S., ...More

Turkish Journal of Hematology, vol.29, no.4, pp.401-404, 2012 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.5505/tjh.2012.65148
  • Title of Journal : Turkish Journal of Hematology
  • Page Numbers: pp.401-404
  • Keywords: Galactosemia, Hemophagocytic lymphohistiocytosis, Newborn


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.