Neurofibromatosis (NF) is a genetic disorder of the nervous system. It causes tumors to grow on the nerves in any part of the body. NF can also produce other abnormalities, such as:
There are two types:
NF is caused by a change in a gene. In many cases the abnormal gene is inherited. However, frequently the gene changes occur by chance in a person with no family history of NF. A person with the inherited form of NF has a 50% chance of passing on the abnormal gene each time he or she has a child. Also, all first-degree relatives (parents, children, and siblings) of an affected individual should be considered at risk and evaluated for signs of NF.
NF1 and NF2 have different symptoms. With either type, the symptoms can range from mild to severe. In most cases, the symptoms are mild and may be overlooked.
Most of these symptoms begin between birth and age 10.
The doctor will ask about your:
The doctor will also do a physical exam. The diagnosis is generally made based on physical findings. Examples include:
Tests for NF1 may include:
Treatments for both types of NF are aimed at controlling symptoms. NF tumors are not always treated because they:
If you have NF, you will need regular exams to check for:
Surgery can help correct some bone abnormalities. Bone surgery may be combined with back braces to treat scoliosis. Surgery can also be used to remove painful or disfiguring tumors. However, tumors may grow back and in larger numbers. In rare cases when tumors become cancerous, treatment may include:
Surgery can remove tumors, but it may damage the nerves. If the nerves to the ears are damaged, hearing loss can occur. Other treatment options include:
MRI scans of the brain can locate tumors when they are small. This allows treatment to be started early.
RESOURCES:
Children's Tumor Foundation
http://www.ctf.org/
Neurofibromatosis, Inc.
http://www.nfinc.org/
CANADIAN RESOURCES:
The British Columbia Neurofibromatosis Foundation
http://www.bcnf.bc.ca//
NF Canada
http://www.nfcanada.ca/index.php/
References:
Children's Tumor Foundation website. Available at: http://www.ctf.org/ .
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Neurofibromatosis. Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html .
NINDS neurofibromatosis information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/ .
Your Genes Your Health website. Available at: http://www.yourgenesyourhealth.org .
Last reviewed January 2009 by Rimas Lukas, 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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