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). (Turk Arch Ped 2012; 47: 222-4

Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy

Objective: To indicate the benefits of the screening of inherited metabolic disorders in patients with epilepsy, global developmental delay, and intellectual disability