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An unusual presentation of galactosemia: Hemophagocytic lymphohistiocytosis
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.

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Authors: Ahmet Afşin Kundak, Ayşegül Zenciroğlu, Neşe Yaralı, Belma Saygılı Karagöl, Arzu Dursun, Selim Gökçe, Nilgün Karadağ, Nurullah Okumuş

Keywords: Hemofagositik lenfohistiyositozis, Galaktozemi, Yenidoğan

  • Year: 2012
  • Number: 4
  • Referance No: 65148

  • Figure 2: HRCT at the level of the upper lobes shows nodular ground glass opacities with a predominately centrilobular distribution.

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