Stephen J. Schueler, M.D.

Overview Symptoms

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.

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Last Updated: Nov 9, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Niemann-Pick Disease References
  1. Chabrol B. [Therapies in the Niemann-Pick type C disease]. Arch Pediatr. 2010 Jun;17 Suppl 2:S54-7. [20620897]
  2. Heron B, Ogier H. [Niemann-Pick type C disease: clinical presentations in pediatric patients]. Arch Pediatr. 2010 Jun;17 Suppl 2:S45-9. [20620895]
  3. Sedel F. [Clinical diagnosis of the adult form of Niemann-Pick type C disease]. Arch Pediatr. 2010 Jun;17 Suppl 2:S50-3. [20620896]
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