At Mayo Clinic, we take the time to listen, to find answers and to provide you the best care.
Mayo Clinic in Minnesota has been recognized as the best Neurology & Neurosurgery hospital in the nation for 2014-2015 by U.S. News & World Report.
Neurofibromatosis is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissue. These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign), but in some cases these tumors become cancerous (malignant) tumors. People with neurofibromatosis often experience only mild symptoms. Effects of neurofibromatosis can range from hearing loss, learning impairment, and 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.
Source: http://www.mayoclinic.com
Three distinct types of neurofibromatosis exist, each with different signs and symptoms.
Neurofibromatosis 1 (NF1) usually appears in childhood. Signs and symptoms include:
Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of vestibular schwannomas (also known as acoustic neuromas) in both ears.
These benign tumors grow on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). Resulting signs and symptoms generally appear in the late teen and early adult years and may include:
In some cases, NF2 can lead to growth of schwannomas in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Associated signs and symptoms may include:
In addition, NF2 may result in vision problems due to abnormal growth on the retina (mostly in children) or due to the development of cataracts.
Schwannomatosis is a rare form of neurofibromatosis only recently recognized. It rarely affects people before their 20s or 30s. Schwannomatosis causes painful tumors called schwannomas to develop on cranial, spinal and peripheral nerves, but not on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve).
Because tumors don't grow on this nerve, schwannomatosis doesn't cause hearing loss, making it different from NF2. As with NF2, though, schwannomatosis doesn't cause cognitive impairment. Schwannomatosis mainly causes chronic pain, which can occur anywhere in your body.
If you notice signs or symptoms of neurofibromatosis in your child or yourself, call your doctor for an appointment or bring it up at your next visit. The tumors associated with neurofibromatosis are often benign and slow-growing. So although it's important to obtain a timely diagnosis and monitor for complications, the situation isn't an emergency.
Source: http://www.mayoclinic.com
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.
A similar problem occurs with NF2. The NF2 gene is located on chromosome 22, which produces a protein called merlin. A mutation of the NF2 gene causes loss of merlin, which also leads to uncontrolled cell growth.
Schwannomatosis may be associated with a mutation of the SMARCB1 gene located on chromosome 22. Other gene mutations may be involved in schwannomatosis. The occurrence of schwannomatosis may be inherited or may be sporadic (spontaneous), but these are not known yet.
Source: http://www.mayoclinic.com
At Mayo Clinic, we take the time to listen, to find answers and to provide you the best care.
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:
A physical examination is also important for a neurofibromatosis 2 (NF2) diagnosis. A family history of NF1 or NF2 can help confirm either diagnosis.
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.
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.
Source: http://www.mayoclinic.com
Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumor growth distorting nerve tissue or pressing on internal organs.
Doctors can't predict whether your disease will progress, but most people with neurofibromatosis experience a mild or moderate form of the disorder, regardless of type.
Common complications of NF1 include:
Monitor neurofibromas vigilantly for any change in appearance, size or number. Changes may indicate cancerous growth. The earlier a malignancy is detected, the better the chances for effective treatment.
People with NF1 also have a higher risk of other forms of cancer, such as breast cancer, leukemia, brain tumors and some types of soft tissue cancer.
NF2 may cause complications including:
The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist.
Source: http://www.mayoclinic.com
Caring for a child with a chronic illness such as neurofibromatosis can be a challenge, even if the illness is mild. Greater severity of symptoms can make it even more difficult. There are many medical appointments to keep, treatments to track and instructions to follow. All of this, in addition to general concern about your child's health and anxiety over outcomes, can be overwhelming. It may help to keep in mind that many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.
Perhaps the most important thing you can do for your child's sake and yourself is to find a primary care doctor you trust and who can coordinate your child's care with other specialists. The Children's Tumor Foundation has an online tool to help you find a neurofibromatosis specialist in your area.
You may also find it helpful to join a support group for parents who care for children with neurofibromatosis, ADHD, special needs or chronic illnesses in general. The Children's Tumor Foundation lists support groups and family events by state on its website. Or, check your local community listings for support groups or ask your doctor for information.
Extended family and friends can be your biggest and closest support network. Don't be afraid to accept their help with daily needs, such as cooking, cleaning, caring for your other children or simply giving you a needed break. Allowing them to share your journey can enrich their lives as well as yours.
Source: http://www.mayoclinic.com
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of NF1 and NF2 cases are inherited. The remaining cases result from spontaneous mutations that occur at conception.
NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.
The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about 15 percent.
Source: http://www.mayoclinic.com
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