The Niemann-Pick disease is a sphingolipidosis, an inherited metabolic disorder caused by a lack of sphingomyelinase. This deficiency leads to an accumulation of sphingomyelin (Ceramidphosphorylcholin) in the cells of the reticuloendothelial tissue.
For more information, see Table sphingolipidosis and see table Other Lipoidosen.
The Niemann-Pick disease is a sphingolipidosis, an inherited metabolic disorder caused by a lack of sphingomyelinase. This deficiency leads to an accumulation of sphingomyelin (Ceramidphosphorylcholin) in the cells of the reticuloendothelial tissue. For more information, see Table sphingolipidosis and see table Other Lipoidosen. See also approach in a patient with suspected congenital metabolic disorder distinction type A and B. The Niemann-Pick disease is an autosomal recessive and often occurs in Ashkenazi Jews. Niemann-Pick disease type C is not related to this disease-related and has an abnormal cholesterol storage. Children with type A have <5% of normal sphingomyelinase. The signs of this disease are hepatosplenomegaly, failure to thrive and a rapidly progressive neurodegeneration. The death takes place in the second or third year of life. Patients with type B have a sphingomyelinase of about 5-10%. Type B has a stronger clinical variability as type A. There may be hepatosplenomegaly and lymphadenopathy. Pancytopenia is widespread. Most patients with type B show little or no neurologic involvement and may survive into adulthood. They are clinically indistinguishable from Gaucher disease type I. In severe cases of Type B progressive pulmonary infiltrates cause serious complications. Diagnosis Prenatal diagnosis blood count with Sphingomyelinaseassay Both types are suspected because of the history and examination, mostly due to the significant hepatosplenomegaly. The diagnosis of Niemann-Pick disease can be confirmed by a Sphingomyelinaseassay in the white blood cells and prenatal amniocentesis or chorionic villus sampling at a. DNA tests can be performed to diagnose carriers. (See also check on suspicion of inherited metabolic disorders.) Possible therapy bone marrow transplantation, stem cell transplantation and enzyme replacement therapy bone marrow transplantation, stem cell transplantation and enzyme replacement are investigated as a possible treatment options right now.