Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In those with this rare disorder, fatty material builds up in various vital organs, which can include the brain.
There are 4 main types of Niemann-Pick disease: Type A—Causes fatty substances to collect in the liver and spleen. Children have severe brain damage and usually die by 2-3 years of age.Type B—Affects the liver and spleen. Organs enlarge during the pre-teen years. There is usually no brain damage. Children usually have breathing problems and die in their teen years or early adulthood.
The prognosis is better for type B than type A.Type C—Produces extensive brain damage. The liver and spleen are moderately enlarged. Type C usually starts in childhood and leads to death in teen years or early adulthood.Type D—Similar to type C, but occurs only in people related to a family that lived in Nova Scotia at the start of the 1700s. Type D is now recognized as a variation of type C.
Liver and Spleen
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Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.
A fatty material called sphingomyelin builds up in the organs. This substance is normally present in the membrane of most cells. The enzyme
sphingomyelinase normally breaks down this substance. However, people with type A or B either do not have enough of this enzyme or this enzyme does not work properly. Without the properly functioning enzyme, this fatty material builds up in the cells. The cells die and the organ does not work properly.
In these 2 types, nerve cells in the brain are unable to move cholesterol out. This allows cholesterol to build up, which keeps cells from functioning normally.
Factors that may increase your child's chance of Niemann-Pick disease include: Family members with Niemann-Pick diseaseAshkenazi Jewish heritage—types A and BNova Scotia, French-Canadian ancestry—type DSpanish-American population of southern New Mexico and Colorado—type CNorth African ancestry, Maghreb region including Tunisia, Morocco, and Algeria—type B
Symptoms of Niemann-Pick disease may develop during infancy, childhood, or the teen years, depending on the type of the disease. Symptoms vary. Not all children will develop every symptom. Symptoms usually worsen over time.
Symptoms begin within the first few months of life. They may include: Yellow skin and eye colorationCherry red spot in the eyeEnlarged bellyIntellectual disabilityLoss of motor skillsDifficulty swallowing and feedingSeizuresVisual problemsSpastic movements—later in diseaseRigid muscles—later in disease
Symptoms start during pre-teen years. They may include: Yellow skin and eye colorationEnlarged bellyEnlarged lymph nodesBrittle bonesBreathing difficultiesFrequent respiratory infections
Symptoms may start in infancy, childhood, or teen years. They may include: Yellow skin and eye colorationUnsteady movementTrouble walkingDifficulty swallowingUnable to look up or downVision lossHearing lossSlurred speechEnlarged abdomenLoss of motor skillsDifficulty swallowingLearning problemsTremorsSeizures
You will be asked about your child’s symptoms and medical history. A physical exam will be done.
Your child's bodily fluids and tissues may be tested. This can be done with: Blood testsSkin biopsy
No specific or effective treatment currently exists for Niemann-Pick disease. Treatment is aimed at managing symptoms.
For example, those with type B may be given oxygen to help with lung problems.
There are no specific guidelines for preventing Niemann-Pick disease. Prevention measures are currently available in the areas of genetic testing and prenatal diagnosis. If you have Niemann-Pick disease or a have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Niemann-Pick disease. Genetics Home Reference website. Available at:
http://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated May 31, 2016.
Accessed June 6, 2016.
Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at:
http://www.nnpdf.org/npdisease_01.html. Accessed June 6, 2016.
NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at:
http://www.ninds.nih.gov/disorders/niemann/niemann.htm. Updated February 22, 2016. Accessed June 6, 2016.
Last reviewed June 2016 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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