Acoustic neurofibromatosis, also known as neurofibromatosis type 2 (NF2), is a rare genetic disorder that causes the growth of noncancerous tumors, called schwannomas, on the acoustic nerve and other nerves in the body. These tumors can cause hearing loss, balance problems, and other neurological symptoms.
Acoustic neurofibromatosis is caused by mutations in the NF2 gene, which provides instructions for making a protein called merlin. Merlin is a tumor suppressor protein that helps to regulate the growth and division of cells. When the NF2 gene is mutated, the merlin protein is unable to function properly, allowing tumors to grow.
Symptoms of acoustic neurofibromatosis can vary widely depending on the location and size of the tumors. Some common symptoms include:
- Hearing loss or ringing in the ears (tinnitus)
- Loss of balance or coordination
- Dizziness or vertigo
- Facial weakness or paralysis
- Vision problems
Diagnosis of acoustic neurofibromatosis typically involves a combination of imaging studies, such as an MRI, and genetic testing to identify mutations in the NF2 gene.
Treatment of acoustic neurofibromatosis depends on the severity of symptoms and the size and location of the tumors. Treatment options may include surgery to remove the tumors, radiation therapy to shrink the tumors, and medications to manage symptoms.
While there is currently no cure for acoustic neurofibromatosis, early diagnosis and treatment can help to manage symptoms and prevent complications. Genetic counseling may also be recommended for individuals with a family history of the disorder, as acoustic neurofibromatosis is inherited in an autosomal dominant pattern.