Neurofibromatosis (NF) is a genetic disorder that causes
tumors to develop in the brain, spinal cord, and nerves. The condition occurs
as a result of a gene abnormality. There are two types of NF, both of which
cause tumor growth in various areas of the body.
Neurofibromatosis type 1 (NF1) is more common than
neurofibromatosis type 2 (NF2). NF1 causes tumors to form in various tissues
and organs of the body. This causes skin problems and bone deformities. NF2, on
the other hand, causes tumors to develop on the brain and spinal nerves. Although
most tumors caused by NF are not cancerous, they can still be dangerous and
impair your quality of life.
NF2 and Tumors
NF2 causes noncancerous tumors to grow on nerves in the
brain and spinal cord. Unlike NF1, NF2 usually doesn’t present any visible
symptoms and is rare in children. The tumors caused by NF2 are usually on the
eighth cranial nerve, which connects your inner ear to your brain. These tumors
are called acoustic neuromas. They can cause hearing loss and problems with
Schwannomas are another type of tumor that can occur in people
with NF2. These tumors originate from Schwann cells, which protect your nerve
cells and neurotransmitters. Spinal cord schwannomas are common in those with
NF2. If left untreated, they can cause paralysis.
NF2 and Genetics
Since NF2 is a genetic condition, the disorder can be
inherited from a parent. But this isn’t always the case. According to the National
Institute of Neurological Disorders and Stroke, between 30 and 50 percent
of cases are caused by a random genetic mutation. Once the mutation occurs, the
condition can be passed down from generation to generation.
Are the Symptoms of NF2?
The symptoms of NF2 can occur at any age, but they typically
appear during adolescence or early adulthood. They can vary in number and
severity depending on the exact location of the tumors.
Common symptoms of NF2 may include:
- ringing in the ears
- problems with balance
- glaucoma (an eye disease that damages the optic
- hearing loss
- vision impairment
- numbness or weakness in the arms and legs
See your doctor for an examination if you have any of these symptoms.
They can be symptoms of other conditions as well, so an accurate diagnosis is
Is NF2 Diagnosed?
Your doctor will perform a thorough physical examination and
order certain tests to check for hearing loss or impairment. To confirm a NF2 diagnosis,
your doctor may want to perform additional tests, including:
- CT scan
- MRI scan
- balance tests
- vision tests
- genetic testing
Is NF2 Treated?
There’s no cure for either type of NF. However, your symptoms
can be managed with treatment. Regular checkups and monitoring are important
for people with NF2. This way, any potential complications can be caught and
treated early. Physical exams, neurological tests, and a hearing test should be
conducted at least once a year. Annual visits with an ophthalmologist (eye
doctor) are also recommended.
Surgery may be recommended if your tumors become too large
or begin to cause sensory impairment. The tumors associated with NF2 form in
problematic locations. The surgical procedure usually requires a team of
neurosurgeons, ophthalmologists, and ear, nose, and throat (ENT) specialists.
These specialists ensure that the tumor is removed safely without causing
damage to the surrounding areas.
Stereotactic radiosurgery may be an option to treat some
tumors. This technique uses targeted rays of radiation to attack and shrink the
Depending on the type and location of your tumors,
chemotherapy may also be recommended. This is an aggressive form of drug treatment
that helps reduce the size of tumors.
Research is being conducted on the genetic aspects of NF2. There
may be clinical trials available in your area. A clinical trial involves using
cutting-edge treatments to address a certain medical condition. Participants
are closely monitored for any adverse side effects. These trials aren’t
appropriate for everyone, but may be helpful for some people with NF2. Ask your
doctor whether participation in a clinical trial may be beneficial for you.