Niemann-Pick Disease Overview
What is Niemann-Pick disease?
A person with Niemann-Pick disease has an inherited disease that causes lipids (fats) to collect in the cells of the liver, spleen, and brain. There are different types of Niemann-Pick disease, but both result from a deficiency of an enzyme called sphingomyelinase. Type A disease is the most severe form, which usually results in death by age 3. Those with type B disease usually survive into adulthood. The diagnosis is usually made during childhood as the liver and spleen become progressively larger and larger.
What are the symptoms of Niemann-Pick disease?
The symptoms of Niemann-Pick disease depend on the underlying type and often include abdominal swelling, seizures, enlarged liver and spleen, dystonia, slurred speech, poor balance, and jaundice.
How does the doctor treat Niemann-Pick disease?
There is no specific treatment for Niemann-Pick disease. Liver transplant, lung transplant and bone marrow transplant have not been successful. Children with Niemann-Pick disease require frequent meals to promote growth. Patients with type B disease should avoid contact sports because of the risk of ruptured spleen.
Continue to Niemann-Pick Disease Symptoms
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- Sedel F. [Clinical diagnosis of the adult form of Niemann-Pick type C disease]. Arch Pediatr. 2010 Jun;17 Suppl 2:S50-3.