Niemann Pick disease and hemophagocytic syndrome

Abstract

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 Turk Arch Ped 2012; 47: 222 4

Keywords

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Niemann Pick hastalığı ve hemofagositik sendrom

Abstract

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 Türk Ped Arş 2012; 47: 222 4

Keywords

• Hemofagositik sendrom
• Niemann
• Pick hastalığı