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.
Three distinct types of neurofibromatosis exist, each with different signs and symptoms.
Neurofibromatosis 1 (NF1)
Neurofibromatosis 2 (NF2)
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.
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.
When to see a doctor
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.
Neurofibromatosis 1 (NF1)
Neurofibromatosis 2 (NF2)
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.
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A ...
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.
Neurofibromatosis 1 (NF1) complications
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.
Neurofibromatosis 2 (NF2) complications
Preparing for your appointment
You'll probably first discuss any concerns with your child's pediatrician or your primary care doctor. Eventually, your doctor may refer you to other specialists, such as a doctor trained in brain and nervous system conditions (neurologist), depending on your condition and complications.
For your first visit, which may take place during a routine well-child visit, it's a good idea to come prepared to make the best use of the time allotted.
What you can do
What to expect from your doctor
Some signs and symptoms of neurofibromatosis may not appear until a certain age. Because of this, it may take years to diagnose your condition.
Tests and diagnosis
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.
Treatments and drugs
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.
Your 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 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
Coping and support
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.
Last Updated: 2013-01-03
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