The Niemann Pick disease is often very difficult to diagnose. From beginning of the first neurologic symptoms up to suspicion diagnosis of a Niemann Pick disease several years can pass. Because of its rarity knowledge remains a big challenge. In addition, the first clinical symptoms can largely differ in their form at the early stage of break-out. Therefore, many cases are wrongly diagnosed or even never identified.

In order to check the different Niemann Pick types there are different tests. Many of these tests are quite complicated and can only be performed by special institutions. A marrow puncture can give the first indication. As a rule the activity of the enzymes "Sphingomyelinase" is measured afterwards for the proof of the types A and B in the white blood cells. The type C can be diagnosed by a skin biopsy and confirmed by an ADN test.


For more information:

Orphanet - The portal for rare diseases and Orphan Drugs (Actelion)
Genetics Home Reference (U.S. National Library of Medicine, Dep. of Health and Human Services)
University of Notre Dame (Indiana, USA)

Medical information on this website is maintained by Matthias Oetterli (journalist BR and father of an NPC patient). Information is checked by Dr. med . Marianne Rohrbach, Department of Metabolic Diseases, University Children's Hospital Zurich (CH).