Mehmet CANPOLAT, Duran ASLAN, Yasemin TORUN ALTUNER, Mehmet Akif ÖZDEMİR, Mustafa KENDİRCİ

Niemann-Pick hastalığı ve hemofagositik sendrom

Hemofagositik sendrom uzamış ateş, sitopeni, karaciğer-dalak büyüklüğü ve morfolojik olarak benin makrofajlarca uyarılan hemofagositoz bulguları ile belirgin ciddi bir hiperenflamasyon durumudur. Hemofagositik sendrom birincil veya malinite, metabolik hastalık, kolajen vasküler hastalık ve bazı bakteriyal, virüs ve fungal enfeksiyonlara ikincil olabilir. Niemann-Pick anormal hücre içi kolesterol birikimine ikincil ilerleyici nörodejenerasyonla ilişkili ölümcül lizozomal depo hastalığıdır. Bu yazıda Niemann-Pick hücrelerinde (lipit yüklü makrofajlar) hemofagositoz gözlenen ve ilk kez bildirilen Niemann-Pick hastalığı olgusu sunuldu.

Niemann-Pick disease and hemophagocytic syndrome

Hemophagocytic syndromes represent a severe hyperinflammatory condition with the cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly and hemophagocytosis induced by activated, morphologically benign macrophages. Hemophagocytic syndrome may be primary or it may be secondary to malignancy, metabolic diseases, collagen vascular diseases and bacterial, viral and fungal infectious diseases. Niemann- Pick disease is a fatal lysosomal storage disease related to progressive neurodegeneration secondary to abnormal intracellular accumulation of cholesterol. In this article, we describe the first reported case of Niemann-Pick disease that demonstrated hemophagocytosis in Niemann-Pick cell (lipid loaded macrophage).

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