Neurofibromatosis Type 2

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If you’re experiencing hearing loss at an early age, it could be a sign of neurofibromatosis type 2 (NF2). NF2 is a genetic condition that can cause tumors to form in your body.

The tumors usually form in your nervous system (including the brain, spinal cord and the nerves that run throughout your body). They may also form in your skin and eyes. In particular, NF2 can affect the eighth cranial nerve, which can lead to hearing and balance problems.

If you have neurofibromatosis type 2, you were born with the condition. You can’t develop NF2 later in life.

Causes of NF2

NF2 is caused by a mutation in a specific gene, called the “Merlin” gene. This gene normally makes proteins that help control how the cells in your body grow. Since the gene is defective, these proteins aren’t able to control cell growth, which leads to the development of tumors.

You may have inherited the affected gene from your family, or you may be the first member of your family to have the NF2 genetic mutation. You have up to a 50% chance of passing the mutated gene to your children.

Benign Tumors of the Nervous System

Neurofibromatosis type 2, or NF2, is a hereditary condition that creates tumors in the central nervous system, affecting hearing and balance. View NF2 transcript.

NF2 Symptoms & Diagnosis

The symptoms you experience from NF2 depend on the exact location and size of the tumors. They may include:

  • Hearing loss
  • Tinnitus (ringing in your ears)
  • Poor balance
  • Headaches
  • Pain or numbness in your face
  • Visual problems, such as double or blurry vision
  • Weakness or tingling in your arms or legs
  • Skin changes, such as bumps under the skin, small flesh-colored skin flaps or dark, rough, hairy patches

NF2 can be difficult to diagnose and it can take a long time for the diagnosis to be settled. If you do not have a family history of NF2, usually the first symptom you experience is hearing loss at a young age.

Your doctor may suspect NF2 if you have a history of:

  • Tumors such as:
    • Vestibular schwannomas — tumors that grow from tissue that surrounds the eighth cranial nerve (these tumors are also called acoustic neuromas)
    • Other schwannomas — tumors from tissue that surrounds other nerves throughout the body
    • Gliomas — tumors of the brain or spine
    • Ependymomas — tumors of the spinal cord
    • Meningiomas — tumors of tissue that surrounds brain and spine
  • Childhood cataracts

Your doctor may order MRI scans to look for tumors. A biopsy of tumor samples can also help diagnose NF2.  

NF2 Treatment

Although there aren’t treatments that can make the tumors go away you should visit your doctor regularly to check for new symptoms, tumor growth or to reevaluate your treatment plan. You’ll also meet with other providers to help manage issues with your hearing, vision, balance, strength or skin sensation.  

You may need surgery to remove tumors that are causing problems. If you have hearing loss, you may be a candidate for cochlear implants or auditory brainstem implantation to help get your hearing back. Other surgeries, like cataract repairs, can correct additional problems.

Some tumors may also shrink in response to radiation or certain medications. These treatments can have some side effects and complications. You and your doctor will weigh the risks and benefits of each treatment option.

 

Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice.