Neurofibromatosis type 2
Neurofibromatosis 2 (NF2), Bilateral Acoustic Neurofibromatosis, BANF Acoustic Neurinoma
Type of disease: Rare conditions
Neurofibromatosis Type 2 (NF2) is a genetic condition that causes the development of non-cancerous (benign) tumors along the nerves in the body. NF2 is one type of neurofibromatosis, which is a group of genetic conditions that cause abnormal cell growth in nerve tissues throughout the body. Tumors in NF2 usually develop on the nerves that send messages from the inner ears to the brain (vestibular schwannomas or acoustic neuromas), but tumors can also develop in other nerves in the body. Symptoms of inner ear tumors in NF2 usually include trouble with balance, dizziness, headache, facial weakness, numbness, pain, ringing in ears (tinnitus), and hearing loss. Other symptoms may develop if tumors occur in other areas of the body and can include abnormal vision, weakness in the arms or legs, and fluid buildup in the brain.
NF2 is caused by a change (mutation) in the NF2 gene. This gene acts as a tumor suppressor for nerve cells, which means it helps control nerve cell growth and division. A mutation in the NF2 gene leads to uncontrolled nerve cell growth, which causes tumor development in nerve tissue throughout the body. NF2 is inherited in an autosomal dominant way, which means a mutation in one of two copies of the gene a person has is enough to cause the condition.
There are clinical criteria that doctors use to diagnose NF2. The condition is usually diagnosed by a doctor who is familiar with genetic conditions (geneticist). Genetic testing is used to confirm the clinical diagnosis. Although NF2 does not have a cure, management of many of the symptoms is possible. Treatment usually involves surgery to remove tumors in the ear as well as support for hearing loss. If your child has been diagnosed with NF2, talk with their doctor to determine a treatment plan. More information and support is available through NF support groups.