Niemann–Pick disease Path.
(niːmənˈpɪk)
Also Niemann–Pick's disease.
[f. the names of Albert Niemann (1880–1921) and Ludwig Pick (1868–?1944), German physicians, who described the disease in 1914 and 1926 respectively.]
A rare, inherited metabolic disorder, usu. fatal in childhood, which is characterized by the accumulation within the body cells of a lipid (sphingomyelin).
| 1928 Jrnl. Amer. Med. Assoc. 7 Apr. 1166/1 (heading) Niemann–Pick disease. Ibid. 30 June 2077/2 The stored material in Niemann–Pick's disease is phosphatide. 1942 M. M. Wintrobe Clin. Hematol. xii. 521 The cells of Niemann–Pick's disease are round, oval, or polyhedral and are filled with small round hyaline droplets in clusters which give the appearance of foam or a honeycomb. 1966 Wright & Symmers Systemic Path. I. v. 246/1 Niemann–Pick disease is considerably rarer than Gaucher's disease. 1973 Sci. Amer. Aug. 90/3 Another disorder involving enlargement of the liver and the spleen and mental retardation, Niemann–Pick disease, was shown..to involve the accumulation of the phospholipid sphingomyelin. |