Neurofibromatosis Type 2 (NF2)

Neurofibromatosis type 2 is one of three types of genetic nervous system disorders that causes tumors to grow around nerves. The three types of neurofibromatosis are type 1 (NF1), type 2 (NF2), and schwannomatosis. An estimated 100,000 Americans have a form of neurofibromatosis. Neurofibromatosis occurs in both males and females of all ethnic backgrounds.

Neurofibromatosis may either be inherited in an autosomal dominant pattern or it may be due to a new gene mutation in an individual. The gene for neurofibromatosis type 2 is located on chromosome 22.

Symptoms

Neurofibromatosis type 2 is less common than NF1. It affects about 1 in 40,000 people. Symptoms include:

• tumors in the tissue around the eighth cranial nerve (called vestibular schwannomas)
• hearing loss or deafness, or ringing in the ear (tinnitus)
• tumors in the spinal cord
• meningioma (tumor on the membrane that covers the spinal cord and brain) or other brain tumors
• cataracts in the eyes in childhood
• balance problems
• weakness or numbness in an arm or leg

Diagnosis

The symptoms of neurofibromatosis type 2 are typically noticed between 18 to 22 years of age. The most frequent first symptom is hearing loss or ringing in the ears (tinnitus). To diagnose NF2, a doctor looks for schwannomas along both sides of the eighth cranial nerve, or a family history of NF2 and one schwannoma on the eighth cranial nerve before age 30. If there is no schwannoma on the eighth cranial nerve, tumors in other parts of the body and/or cataracts in the eyes in childhood could help confirm the diagnosis.

Since hearing loss can be present in neurofibromatosis type 2, a hearing test (audiometry) will be done. Brainstem auditory evoked response (BAER) tests can help determine whether the eighth cranial nerve is functioning properly. Magnetic resonance imaging (MRI), computed tomography (CT) scan, and X-rays are used to look for tumors in and around the auditory nerves. Genetic testing by blood test can be done to look for defects in the NF2 gene.

Treatment

Doctors do not know how to stop the tumors from growing in neurofibromatosis. Surgery can be used to remove tumors that are causing pain or problems with vision or hearing. Chemical or radiation treatments may be used to reduce the size of tumors.

In NF2, if surgery done to remove a vestibular schwannoma causes hearing loss, an auditory brainstem implant may be used to improve hearing.

Other symptoms such as pain, headaches, or seizures can be managed with medications or other treatments.

Coping and Support

Caring for someone, especially a child, with a chronic condition such as neurofibromatosis can be a challenge. 

To help you cope:

• Find a primary care doctor you can trust and who can coordinate your child's care with other specialists.
• Join a support group for parents who care for children with neurofibromatosis, ADHD, special needs or chronic illnesses in general.
• Accept help for daily needs such as cooking, cleaning, caring for your other children or simply giving you a needed break.
• Seek academic support for children with learning disabilities.