Niemann-Pick disease is a problem with the body's ability to process cholesterol and other fatty substances inside of cells. This causes it to build up in vital organs, such as the brain.
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Niemann-Pick disease is caused by faulty genes. Both parents must carry the genes for a child to get the disease.
There are 3 main types of the disease:
Things that may raise the risk of this problem are:
Symptoms vary depending on the type. Problems get worse over time.
Symptoms start in the first few months of life. They may be:
Problems start during pre-teen years. They may be:
Problems may start in infancy, childhood, or the teen years. They may be:
The doctor will ask about your child’s symptoms and health history. A physical exam will be done.
These tests may also be done:
There is no cure. The goal is to manage symptoms. The methods used to do this depend on the disease type and severity.
There are no known guidelines to prevent this health problem.
National Institute of Neurological Disorders and Stroke
National Niemann-Pick Disease Foundation, Inc.
International Niemann–Pick Disease Alliance
Geberhiwot T, Moro A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50.
Niemann Pick disease type C. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/niemann-pick-disease-type-c. Accessed October 30, 2020.
Niemann-Pick disease overview. National Niemann-Pick Disease Foundation, Inc. website. Available at: http://www.nnpdf.org/npdisease_01.html. Accessed October 30, 2020.
NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page. Accessed October 30, 2020.
Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 5/11/2021