The classical form of the disease is Niemann-Pick disease type A. Its onset is in very early infancy and death is usually before age three (3). The lipid accumulates in cells called reticuloendothelial cells in the liver and spleen and in other types of cells throughout the body including the nerve ganglion cells of the central nervous system. The neurological features 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. 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. The sphingomyelin accumulation is due to deficiency of the enzyme sphingomyelinase. The gene for this enzyme and hence the location of the gene for Niemann-Pick disease type A is in chromosome band 11p15.4-p15.1.
At least five (5) 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.
Related Articles to the term 'Niemann-Pick disease' | |
| 'Sphingomyelinase deficiency' | ■■■■■■■■■■ |
| Sphingomyelinase deficiency is another name of Niemann-Pick disease that refers to a biochemical disorder . . . Read More | |
| 'Rett Syndrome' | ■ |
| Rett Syndrome refers to a progressive neurologic developmental disorder and one of the most common causes . . . Read More | |
| 'Motor' | ■ |
| Motor refers to the movement of a part of the body, or something that produces that motion or refers . . . Read More | |
| 'Sickle cell anemia' | ■ |
| Sickle cell anemia refers to a group of inheritable genetic conditions in which there is an abnormality . . . Read More | |
| 'Retina' | ■ |
| Retina: The retina is a complex network of cells that covers the inside back of the eye. These cells . . . Read More | |
| 'Neural Firing' | ■ |
| Neural Firing: Neural firing in the psychology context refers to the process by which neurons (nerve . . . Read More | |
| 'Programmed cell death' | ■ |
| Programmed cell death is the theory that aging is genetically programmed. . . . . . . Read More | |
| 'Fight or Flight' | ■ |
| Fight or Flight in the psychology context refers to the acute stress response mechanism that prepares . . . Read More | |
| 'Nucleotides' | ■ |
| Nucleotides refer to biochemical units that make up DNA and genes. . . . . . . Read More | |
| 'Stanford-Binet' | ■ |
| The Stanford-Binet is a widely recognized intelligence test used in psychology. It was developed to assess . . . Read More | |