To diagnose your condition, your doctor will review your symptoms, medical history and your family history. Depending on the type of neurofibromatosis suspected, your doctor may conduct or order several tests, which may include:
- Physical examination and medical history. Your doctor will usually diagnose neurofibromatosis 1 (NF1) based on a physical examination, checking for the characteristics of NF1. Your doctor may use a special lamp to check your skin for light-colored cafe au lait spots.
A physical examination is also important for a neurofibromatosis 2 (NF2) diagnosis. A family history of NF1 or NF2 can help confirm either diagnosis.
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- Eye exam. Examination by an eye doctor (ophthalmologist) can detect tiny bumps on the iris of your eye (Lisch nodules) and cataracts.
- Ear exam. Hearing and balance tests such as audiometry, electronystagmography and brainstem auditory evoked response can help determine the level of hearing and balance function in a person with NF2.
Imaging tests. Imaging tests, such as X-rays, CT scans and MRIs, aren't always required, but they can help identify bone abnormalities, deep tumors in the brain or spinal cord, and very small tumors. An MRI can also help identify optic pathway gliomas in your eye.
Imaging tests may also be particularly helpful in monitoring NF2 and schwannomatosis.
- Genetic tests. Genetic tests are available for NF1, NF2 and schwannomatosis, and may be done prenatally. Staff can also provide genetic counseling.
- Neurofibromatosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed Oct. 12, 2012.
- Torpy JM, et al. Neurofibromatosis. Journal of the American Medical Association. 2009;302:2170.
- Plon SE. Neurofibromatosis type 1 (von Recklinghausen's disease). http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Evans DG. Neurofibromatosis type 2. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Dashe JF, et al. Overview of schwannomatosis. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Schwannomatosis. Neurofibromatosis Network. http://www.nfnetwork.org/understanding-nf/what-is-nf/schwannomatosis. Accessed Oct. 16, 2012.
- Ferner RE. The neurofibromatoses. Practical Neurology. 2010;10:82.
- Find a local chapter. Children's Tumor Foundation. http://www.ctf.org/Chapter-Resources/Find-a-Local-Chapter-or-Affiliate.html. Accessed Oct. 19, 2012.
- Local groups. Neurofibromatosis Network. http://www.nfnetwork.org/nf-community-near-you/local-groups. Accessed Oct. 19, 2012.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 26, 2012.