Özet:

Chediak Higashi syndrome is a rare, autosomal recessive disorder that is characterized by variable degrees of oculo- cutaneous albinism, immune deficiency, recurrent infecti- ons and neurological signs. Hemophagocytic lymphohysti- ocytosis which progresses with acute febrile disease, pancytopenia, hepatosplenomegaly, lymphadenopathy and bleeding disorders, and characterized by massive lymphohy- stiocytic infiltration and macrophage activation can be lethal. Cytoplasmic giant granules are typically seen in all types of cells. A mutation in the LYST gene has been shown. Nearly 85 % of the cases with CHS are diagnosed as hemophagocytic lymphohistiocytosis within a few years after birth. In the diagnosis and treatment prevalently 2004 Guideline of Diagnosis and Treatment of HLH has been used. Its definitive treatment can only be possible with bone marrow stem cell transplantation. Here, we report a case of a two year- old boy with Chediak Higashi Syndrome who presented with hemophagocytic lymphohystiocytosis

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