| Niemann disease | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |
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| Niemann's splenomegaly | Enlargement of spleen occurring in Niemann-Pick disease. (05 Mar 2000) |
| Niemann, Albert | <person> German physician, 1880-1921. See: Niemann-Pick cell, Niemann-Pick disease, Niemann disease, Niemann's splenomegaly. (05 Mar 2000) |
| Niemann-Pick cell | A relatively large, rounded or polygonal, mononuclear cell, with indistinctly or palely staining, foamlike cytoplasm that contains numerous droplets of a phosphatide, sphingomyelin; such cell's are widely distributed in the spleen and other tissues, especially those rich in reticuloendothelial components, in patients with Niemann-Pick disease. Synonym: Niemann-Pick cell. (05 Mar 2000) |
| Niemann-Pick disease | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |