Disease, Niemann-Pick


Disease, Niemann-Pick
A disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration. Niemann-Pick disease is hereditary and follows an autosomal recessive pattern. The parents are carriers of one copy of the gene and each of their children, boys and girls alike, has a 1 in 4 (25%) chance of receiving both of the parents' genes for Niemann-Pick and manifesting the disease. The onset of the classical form of Niemann-Pick disease is in very early infancy and death is usually before age 3. The lipid accumulates in cells (called reticuloendothelial cells) in the liver and spleen and other cell types throughout the body including the nerve ganglion cells of the central nervous system. The neurological features of Niemann-Pick disease include mental retardation, spasticity, seizures, jerks, eye paralysis (ophthalmoplegia) and ataxia (wobbliness). Physical growth is retarded. The gastrointestinal features include hepatosplenomegaly, jaundice, hepatic (liver) failure, and ascites (fluid in the abdomen). Eye hallmarks of Niemann-Pick disease include the "cherry red spot" in the macula in the center of the retina, opacity of the cornea and brown discoloration of the lens capsule. Respiratory problems include pulmonary infiltration. Coronary artery disease occurs early. There is easy bruising. The sphingomyelin accumulation is due to deficiency of the enzyme sphingomyelinase. The gene for this enzyme and hence the location of the gene for this disease is in chromosome band 11p15.4-p15.1. Typical cells (called Niemann-Pick cells) that have a foamy appearance due to their storage of sphingomyelin are found in the bone marrow, spleen and lymph nodes. These unusual cells help in establishing the diagnosis. At least 5 forms of Niemann-Pick disease have been distinguished: the classical infantile form (type A), the visceral (organ) form (type B), the subacute or juvenile form (type C), the Nova Scotian variant (type D), and the adult form (type E). The disease is named for the German physicians Albert Niemann (1880-1921) and Ludwig Pick (1868-1944). Other names for the disease include sphingomyelin lipoidosis and sphingomyelinase deficiency.

Medical dictionary. 2011.

Look at other dictionaries:

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  • Niemann-Pick disease — A disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), swollen glands (lymphadenopathy), anemia and mental and physical… …   Medical dictionary

  • Niemann-Pick-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen (incl. Niemann Pick Krankheit) …   Deutsch Wikipedia

  • Niemann-Pick cells — round, oval, or polyhedral cells present in the bone marrow and spleen in Niemann Pick disease; they have foamy, lipid containing cytoplasm, in the form of sphingomyelin, which gives a positive reaction with Sudan III and other fat stains. Called …   Medical dictionary

  • Niemann-Pick disease — noun a disorder of lipid metabolism that is inherited as an autosomal recessive trait • Hypernyms: ↑inborn error of metabolism, ↑lipidosis, ↑autosomal recessive disease, ↑autosomal recessive defect * * * ˈnēˌmänˈpik noun Usage: usually… …   Useful english dictionary

  • Niemann-Pick cells disease — Nie·mann Pick cells, disease (neґmahn pikґ) [A. Niemann; Ludwig Pick, German physician, 1868–1944] see under cell and disease …   Medical dictionary

  • Niemann-Pick disease — /nee meuhn pik /, Pathol. a rare, hereditary lipid storage disease, occurring primarily among Ashkenazic Jews, in which abnormal lipid metabolism results in enlargement of the liver, spleen, and lymph nodes, and in progressive mental and physical …   Universalium


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