What Is Neurofibromatosis Type 2?

Neurofibromatosis type 2 is an unusual genetic disorder inherited in a dominant pattern, which means that someone only needs one copy of the gene involved to have the condition. Patients with this condition can experience a number of symptoms, but the key feature is the development of growths inside the ears and along the auditory nerve. These can cause hearing and balance problems. Patients may start to manifest signs of neurofibromatosis type 2 in their teens and into their late 20s, and the severity can vary because the gene is not identical between patients.

In addition to the ear growths, patients can be more prone to cancers of the nervous system, as well as benign skin tumors. They may also develop cataracts and other vision problems early in life. These symptoms can onset earlier and be more severe in some patients because of the specifics of the gene involved; some people have relatively mild forms as a result of moderate mutation. Others may be at risk of more serious problems, especially as they grow older.

Specific treatments for neurofibromatosis type 2 can include surgery to remove growths as well as radiation therapy to prevent their recurrence. This can be necessary with malignancies or benign growths can cause discomfort for the patient. In addition, antiangiogenesis drugs that target blood vessel formation may be considered. These have shown some promise in clinical trials for controlling unwanted growths, and can be an option in some cases.

The level of impairment experienced by people with neurofibromatosis type 2 can vary. People with neurological tumors can develop significant problems if these tumors resist treatment. Others may experience the condition primarily as a nuisance, irritated by the benign skin growths and hearing problems. Some patients find it helpful to join support groups with other people who have the condition so they can exchange tips and tricks in addition to interacting in an environment with people who are familiar with neurofibromatosis type 2.

Someone with neurofibromatosis type 2 has a 50% chance of passing the gene on to a child, assuming that parent only has one copy of the gene. Because of the mixing and matching that occurs in the formation of gametes, the child’s case may not be identical to the parent’s. People with this condition who are considering a pregnancy can discuss it with a genetic counselor who can provide more advice and information. Expectant mothers with neurofibromatosis type 2 may also need to take special precautions during pregnancy, such as stopping medications to protect the fetus.