This is a genetic disorder that causes tumors to form on nerve tissue by disturbing cell growth in the nervous system. These tumors may develop in your brain, spinal cord or nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
Though these cancers are generally benign, in some cases they may turn malignant. Effects of neurofibromatosis can range from hearing loss, learning impairment, heart and blood vessel (cardiovascular) complications to severe disability due to nerve compression by tumors, loss of vision and severe pain.
Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery may help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery, medications to control pain or physical therapy. Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused by mutations in different genes.
The NF1 gene is located on chromosome 17. Normally, this gene produces a protein called neurofibromin, which is abundant in nervous system tissue and helps regulate cell growth. A mutation of the NF1 gene causes a loss of neurofibromin, which allows cells to grow uncontrolled.
To diagnose your condition, your doctor will review your symptoms, medical and your family history. Depending on the type of neurofibromatosis suspected, your doctor may conduct or order several tests, which may include an examination of your eyes and to detect tiny bumps on the iris and of your ears to evaluate the level of hearing. In addition to this your doctor may ask you to go through several imaging tests like X-rays, CT scans and MRIs.
Neurofibromatosis can’t be cured, but doctors will monitor you for complications and treat your symptoms. A team of doctors trained in many areas in a neurofibromatosis clinic often may be involved in your care. You or your child should begin appropriate treatment as early as possible. Generally, the sooner you or your child is under the care of a doctor trained in treating neurofibromatosis, the better the outcome. If you have a child with neurofibromatosis 1 (NF1), your doctor is likely to recommend yearly age-appropriate checkups to:
- Assess your child’s skin for new neurofibromas or changes in existing ones
- Check your child’s blood pressure for signs of high blood pressure
- Evaluate your child’s growth and development — including height, weight and head circumference — according to growth charts available for children with NF1
- Check for signs of early puberty
- Evaluate your child for any skeletal changes and abnormalities
- Assess your child’s learning development and progress in school
- Obtain a complete eye examination of your child’s eyes
If you notice any changes in signs or symptoms between visits, such as rapid growth of a neurofibroma or onset of pain in a tumor, it’s important to contact your doctor promptly to rule out the possibility of a cancerous tumor and to access appropriate treatment at an early stage.
Once a child with NF1 reaches adulthood, the frequency of monitoring can be adjusted to suit the needs of the person with NF1. Adults with mild disease may not need monitoring as often as someone with more-severe complications.If you have schwannomatosis, you may be given medications to help control your pain.
Surgery and other procedures: You may have surgery to remove all or part of tumors that are compressing nearby tissues or damaging organs. Surgery may help relieve symptoms of all forms of neurofibromatosis. Complete removal of schwannomas can ease pain substantially. If you have neurofibromatosis 2 (NF2) and have experienced hearing loss, brain-stem compression or tumor growth, your doctor may recommend surgery to remove vestibular schwannomas. Surgery may help improve your hearing. However, surgery carries risks, including hearing loss or damage to the facial nerves.
Stereotactic radiosurgery: If you have NF2, your doctor may recommend stereotactic radiosurgery to remove vestibular schwannomas. This procedure allows your doctor to deliver radiation very precisely to the location of the tumor, and it can help preserve your hearing to an extent. However, it may create a concern of radiation-induced cancer, especially if the radiation is applied repetitively and at a young age.
Auditory brain-stem implants and cochlear implants: If you have NF2 and hearing loss, you may be eligible for auditory brain-stem implants or cochlear implants to help improve your hearing.
Cancer treatment: Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. However, early recognition of malignant tumors and early treatment are the most important factors resulting in good outcome.
X-rays, CT Scans & MRIs: These are various imaging tests that may sometimes be prescribed for patients suspected to be suffering from neurofibromatosis. Imaging tests may be particularly helpful in monitoring NF2 and schwannomatosis. They can also 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.
Genetic tests: Genetic tests are available for NF1, NF2 and schwannomatosis, and may be done prenatally. Staff can also provide genetic counseling.
Stereotactic radiosurgery: Stereotactic radiosurgery: This cutting edge technology uses precisely focused radiation beams to treat tumors and other abnormal growths in the brain, spinal column and other body sites. This technology delivers high doses of radiation to the tumor with minimal exposure to surrounding healthy tissue.