Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural

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... killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment. ÖZET Hemofagositik Lenfohistiositoz Klini¤i ile Prezente Chediak-Higashi Sendromu Olgusu Chediak Higashi sendromu (CHS) nadir görülen otozomal resesif bir hastal›kt›r. Hastal›k okülokutanöz albinizm ile tekrarlayan solunum sistemi ve di¤er piyojenik enfeksiyonlar ile karekterizedir. CHS'li hastalarda hayat›n herhangi bir döneminde hemofagositik lenfohistiositoz geliflebilir. On dört ayl›k k›z hasta pansitopeni, trigliserit ve ferritin düzeylerinin yüksek olmas›, hipofibrinojenemi, lenfosit alt tiplendirmesinde do¤al öldürücü hücre oranlar›n›n düflük gelmesi ve tekrarlayan kemik ili¤i incelemesinde hemofagositoz yapm›fl makrofajlar görülmesi üzerine hemofagositik lenfohistiositoz olarak kabul edildi. Hemofagositik lenfohistiositoz (HLH 2004) tedavi protokolü baflland›. Olgu idame tedavisi aflamas›nda iken nüks etti. ‹kinci kemik ili¤i incelemesinde intrastoplazmik dev granüllerin görülmesi ile CHS tan›s› kondu. Bak›lan saç analizi CHS ile uyumlu bulundu. Bu makale ile hemofagositik lenfohistiositoz tan›s›nda özellikle erken bebeklikte klini¤in tam olarak ortaya ç›kmamas› nedeni ile CHS'nin atlanababilece¤i ve bu olgular›n tedaviye dirençlerinin önemli bir problem oluflturdu¤unun vurgulanmas› amaçlan-m›flt›r.