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Neurofibromatosis Type 2 (NF2)
Monday, 18 August 2003
Monday, 12 January 2004

What

Neurofibromatosis type 2 (NF2) is a genetic disorder that is characterized by the presence of tumors that grow on both sides of the 8th cranial nerve which is responsible for hearing. This condition was once called “bilateral acoustic neurofibromatosis or central neurofibromatosis.” The 8th cranial nerve is named the vestibulocochlear nerve for its two parts, the vestibular and cochlear parts of the inner ear where sound is transmitted to the brain for hearing. It is now known that the tumors of NF2 most commonly occur on the vestibular membrane, and are called vestibular schwannomas. Enlarged tumors can cause pressure to the nearby cochlear nerves, damage them and cause hearing loss. In some cases the damage to other nearby cranial nerves and the brainstem can be very dangerous.

Who

NF2 affects both sexes and all races and ethnicities equally. NF2 can therefore affect any person from anywhere in the world. Half of the cases of NF2 are inherited and the other half arise from a genetic mutation that occurs spontaneously, in other words it just happens. For those people in whom NF2 runs in the family, only one copy of the affected NF2 gene needs to be passed from a parent for the child to be born with NF2. Each child born to an affected parent has a 50% chance of inheriting the damaged gene and thus developing NF2. On the other hand, affected parents can pass on normal genes 50% of the time and these children will be unaffected with NF2.

Signs and Symptoms

Symptoms may first present as present as hearing loss in the early teen years. Other early signs are tinnitus (ringing of the ears), poor balance, headache, facial pain, or facial numbness. Because the tumors are not visible, the clinical diagnosis of NF2 depends on discovering the cause of the hearing loss that the child will develop over time.

Diagnosis

Diagnosis of NF2 is based on the following clinical criteria: Bilateral 8th cranial nerve tumors Parent, sibling, or child with NF 2 and an 8th nerve tumor on both sides Parent, sibling, or child with NF 2 and either unilateral eight nerve tumor or 2 of the following signs: o Tumor on optic nerves o Schwannomas (tumors growing on the nerves in the skull) o Cataract at an early age o Meningioma (tumors of the brain) o The gene for NF2 has been found to be on chromosome 22. DNA genetic testing is now available clinically and assists in a more definitive diagnosis.

Treatment

The treatment of NF 2 is usually surgical removal of the enlarged tumors on the 8th auditory nerve. Other options are decompression or debulking of tumors which is decreasing the size of the tumors which help decrease the pressure. Radiation may be helpful in shrinking the size of the tumors as well. If the symptoms are tolerable, a more conservative approach may be recommended of routinely assessing hearing capacity and patiently and cautiously watching the progression of the tumor.

Prognosis

Although there is no known cure many people live with NF2 tumors and can lead a normal lifestyle with regular visits with their doctor to watch for symptoms.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Neurofibromatosis Foundation
This is a great resource that has lots of information on NF including ongoing research, support groups, clinical trials, and specific events going in your state.

Neurofibromatosis Inc.
Another good website with a lot of information about the current findings in NF research, newsletters, scholarship opportunities, and excellent links to various organizations. Additionally there is a good section on misconceptions of the disease (it is commonly confused with the disease that affected the Elephant Man).

Texas Neurofibromatosis Foundation
This has a wealth of information about the disease as well as links to other sites, NF clinics, patient outreach and annual events.

Google Search for Neurofibromatosis Type 2 (NF2)

References and Sources

www.nf.org/what_is_nf/nf_facts_statistics.htm www.ninds.nih.gov/helath_and_medical/pubs/neurofibromatosis.htm