Neurofibromatosis Type 2
Overview
Causes
NF2 is caused by a problem with a gene that makes proteins to help control nerve growth. The gene is not able to make these proteins and tumors form.
In most people, the gene issue passes from a parent to their child. The gene change can also happen in a person who does not have family members with NF2.
SymptomsandDiagnosis
Symptoms
The problems a person has depends on the tumor size and where it is. Smaller ones may not cause symptoms.
A person with NF2 may have:
- Hearing loss or 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 symptoms and health history. The doctor may ask if any family members have NF2. 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 gene problem
- An MRI scan to look for tumors
- Electrodiagnostic testing to check the electrical activity of the muscles and nerves
- A brainstem auditory evoked response (BAER) test to measure brainwave activity
Treatments
Treatment
The goals of treatment are to:
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
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
Edits to original content made by Denver Health.
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