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.

Risk Factors

This risk is highest in people with other family who have 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:

  • Manage any problems the tumors cause
  • Remove any tumors causing problems
  • There is no cure for NF2. People who do not have symptoms may not need to be treated. The tumors grow slowly and rarely turn into cancer. A doctor who treats NF2 can watch for any tumor 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

    NF2 often cannot be prevented. People who have a family history of NF2 may want to see a genetic counselor before having children.

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    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.