Your doctor will start with a review of your personal and family medical history and a physical examination.
Your doctor may use a special lamp to check your skin for café au lait spots, which can help diagnose NF1.
If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:
- Eye exam. An eye doctor can detect Lisch nodules and cataracts.
- Hearing and balance exams. A test that measures hearing (audiometry), a test that uses electrodes to record your eye movements (electronystagmography) and a test that measures the electrical messages that carry sound from the inner ear to the brain (brainstem auditory evoked response) can help assess hearing and balance problems in people with NF2.
- Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.
- Genetic tests. Tests to identify NF1and NF2 are available and can be done prenatally. Ask your doctor about genetic counseling. Genetic tests won't always identify schwannomatosis because other, unknown genes may be involved with the disorder. However, some women choose genetic testing for SMARCB1 and LZTR1 before having children.
For a diagnosis of NF1, you must have at least two signs of the condition. If your child has only one sign and no family history of NF1, your doctor will likely monitor your child for the development of any additional signs. A diagnosis of NF1 is usually made by age 4.
Genetic testing may help establish the diagnosis.
Neurofibromatosis can't be cured, but treatments can help manage signs and symptoms. Generally, the sooner you or your child is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.
If your child has 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 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
Contact your doctor promptly if you notice any changes in signs or symptoms between visits. It's important to rule out the possibility of a cancerous tumor and receive appropriate treatment at an early stage.
Surgery and other procedures
Your doctor might recommend surgery or other procedures to treat severe symptoms or complications of neurofibromatosis.
- Surgery to remove tumors. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. If you have NF2 and have experienced hearing loss, brainstem compression or tumor growth, your doctor might recommend surgery to remove acoustic neuromas that are causing you problems. Complete removal of schwannomas in people with schwannomatosis can ease pain substantially.
- Stereotactic radiosurgery. This procedure delivers radiation precisely to your tumor and doesn't require an incision. Stereotactic radiosurgery might be an option to remove acoustic neuromas if you have NF2. Stereotactic radiosurgery can help preserve your hearing.
- Auditory brainstem implants and cochlear implants. These devices might help improve your hearing if you have NF2 and hearing loss.
Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors contributing to a good outcome.
Managing pain is an important part of treatment for schwannomatosis. Your doctor might recommend:
- Drugs for nerve pain such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin (Lyrica).
- Tricyclic antidepressants such as amitriptyline
- Serotonin and norepinephrine reuptake inhibitors such as duloxetine (Cymbalta)
- Epilepsy medications such as topiramate (Topamax, Qudexy XR, Trokendi XR) or carbamazepine (Carbatrol, Tegretol, others)
Potential future treatments
Researchers are testing gene therapies for NF1. Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.
Coping and support
Caring for a child with a chronic condition such as neurofibromatosis can be a challenge. But many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.
To help you cope:
- Find a primary care doctor you can 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.
- Join a support group for parents who care for children with neurofibromatosis, ADHD, special needs or chronic illnesses in general.
- Accept help for daily needs such as cooking, cleaning or caring for your other children or simply to take a needed break.
- Seek academic support for children with learning disabilities.
Preparing for your appointment
You may be referred to a doctor who specializes in brain and nervous system conditions (neurologist).
It's a good idea to be well-prepared for your appointment. Here's some information to help you get ready and know what to expect from your doctor.
What you can do
- Write down a list of concerns, making a note of when you first noticed them.
- Bring a complete medical and family history with you, if your doctor doesn't already have it.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medications, vitamins or supplements that you or your child is taking.
- Bring photographs of any family members — living or deceased — who may have had similar signs and symptoms.
- Write down questions to ask your doctor.
Your time with your doctor is limited. Preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask your doctor include:
- What type of neurofibromatosis do you suspect?
- What tests do you recommend?
- What treatments are available?
- How should the condition be monitored for changes?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions that occur to you.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may allow time later to cover other points you want to address. Your doctor may ask:
- When did you first notice signs or symptoms? Have they changed over time?
- Is there a family history of neurofibromatosis?