Neurofibromatosis Type 2

Neurofibromatosis Type 2 (NF2) is a genetic disorder that primarily affects the nervous system. It is characterized by the growth of noncancerous (benign) tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain.

Signs and Symptoms

The signs and symptoms of NF2 can vary widely among affected individuals. Most people with this disorder develop hearing loss of varying degree, often starting in their teens or early twenties. Other common signs and symptoms include tinnitus (ringing in the ears), balance difficulties, and problems with vision. Some people with NF2 may also develop other benign tumors in the brain or spinal cord, or skin abnormalities such as skin discoloration or skin bumps.

Causes

Neurofibromatosis Type 2 is caused by mutations in the NF2 gene. This gene provides instructions for making a protein called merlin, which suppresses the growth of tumors. Mutations in the NF2 gene lead to the production of an abnormal version of the merlin protein that cannot regulate cell growth and division. As a result, tumors (particularly schwannomas) develop.

Diagnosis

Diagnosis of NF2 is based on clinical criteria. These include the presence of bilateral vestibular schwannomas, family history of NF2, and the presence of other tumors associated with this disorder. Genetic testing can also be used to identify mutations in the NF2 gene.

Treatment

There is currently no cure for NF2. Treatment is aimed at controlling symptoms and managing complications. This may include surgery to remove tumors, radiation therapy, and medication to control pain.

See also

• Neurofibromatosis
• Genetic disorder
• Vestibular schwannoma
• Acoustic neuroma

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