Neurofibromatosis Type 2

Causes

NF2 is caused by a faulty gene. The gene normally makes proteins that help control growth in the nerves. A faulty gene is not able to make these proteins and tumors develop.

In most people, the faulty gene is passed down from a parent. The gene change can also happen in a person who does not have other family members with NF2.

Risk Factors

This risk of this problem is highest in people who have other family members with the disease.

Symptoms

The problems a person has depends on the size of the tumor and where it is. Smaller ones may not cause symptoms.

Problems may be:

• Hearing loss
• Ringing in the ears (tinnitus)
• Poor balance
• Headaches
• Pain or numbness in the face
• Problems seeing, such as double or blurry eyesight
• Weakness or tingling in the arms or legs
• Bumps under the skin or small flesh colored skin flaps
• Dark, rough, hairy patches over raised skin

Diagnosis

The doctor will ask about your medical and health history. You will also be asked about your family medical history. A physical exam will be done. It may take a few years before NF2 is diagnosed.

These tests may be done:

• Blood tests to look for signs of the faulty gene
• An MRI scan to take images to look for tumors
• Electrodiagnostic testing to test the electrical activity of the muscles and nerves
• A brainstem auditory evoked response (BAER) test to measure brainwave activity

Treatment

There is no cure. People who do not have symptoms may not need to be treated. The tumors are rarely cancerous and grow slowly. A specialist will watch for any changes.

People who do have symptoms may need:

• Radiation and medicines to shrink tumors
• Surgery to remove tumors or repair related problems, such as hearing loss or cataracts

Prevention

There are no guidelines to prevent this health problem.