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Definition
By Mayo Clinic staffNeurofibromatosis is a genetic disorder that disrupts cell growth in your nervous system, causing tumors to form on nerve tissue. These tumors can occur anywhere in the nervous system, including in your brain, spinal cord, and large and small nerves. Neurofibromatosis is typically diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign) and the disorder is usually mild. But effects of neurofibromatosis can range from hearing loss and learning impairment to cardiovascular complications and, in a few cases, cancer.
Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. In cases in which neurofibromatosis causes large tumors or tumors that are pressing on a nerve, surgery may help ease symptoms.
- Neurofibromatosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed April 12, 2010.
- Hersh JH, et al. Health supervision for children with neurofibromatosis. Pediatrics. 2008;121:633.
- Ferner RE, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics. 2007;44:81.
- Williams VC, et al. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123:124.
- Torpy JM, et al. JAMA patient page. Neurofibromatosis. JAMA. 2009;302:2170.
- What is NF? Neurofibromatosis, Inc. http://www.nfinc.org/what.shtml. Accessed April 16, 2010.
- Diagnostic criteria for NF-2. Neurofibromatosis, Inc. http://www.nfinc.org/nf2.shtml. Accessed April 16, 2010.
- Diagnostic criteria for NF-1. Neurofibromatosis, Inc. http://www.nfinc.org/nf1.shtml. Accessed April 16, 2010.
- Plon SE, et al. Neurofibromatosis type 1 (von Recklinghausen's disease). http://www.uptodate.com. Accessed April 12, 2010.
- Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: A twenty first century perspective. Lancet Neurology. 2007;6:340.
- Schwannomatosis. Children's Tumor Foundation. http://www.ctf.org/living-with-nf/schwannomatosis.html. Accessed April 18, 2010.
- MacCollin M, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64:1838.
- Diagnosis of NF1. Children's Tumor Foundation. http://www.ctf.org/Living-with-NF/diagnosis-of-nf1.html Page 1 of. Accessed April 18, 2010.
- Diagnosis of NF2. Children's Tumor Foundation. http://www.ctf.org/Living-with-NF/diagnosis-of-nf2.html. Accessed April 18, 2010.
- Neurofibromatoses. March of Dimes. http://www.marchofdimes.com/pnhec/4439_1217.asp. Accessed April 18, 2010.
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