NEUROFIBROMATOSIS TYPE 2
What is Neurofibromatosis?
Neurofibromatosis (NF), also known as von Recklinghausen disease, is a genetic disorder that can affect many organs in the body, especially the skin and the nervous system. Some of the features may be present at birth, but others do not appear for many years. There are three forms of Neurofibromatosis: NF1, NF2 and Schwannomatosis.
Neurofibromatosis type II
Neurofibromatosis 2 (NF2) also called Bilateral Acoustic Neurofibromatosis makes up 10% of all cases of NF with an incidence of 1/50,000. Tumors on the nerves going to the ears, usually on both sides, are characteristic. People with NF2 may also have other lesions and tumors in the brain and spinal cord. The majority of cases of NF2 result from a gene mutation—a new change not seen in other family members.
Difference with other Acoustic Neuromas
Acoustic Neuromas grow differently for NF2 patients as opposed to other AN patients, making treatment more challenging:
- In NF2, tumors grow faster and more agressively. If even one cell is left behind then it has the potential to regrow.
- In NF2 the Acoustic Neuroma (AN) tends to infiltrate the nerves, as opposed to being adjacent to and pressing on the nerves as in regular AN cases. They are therefore more difficult to surgically remove without sacrificing the nerve(s) altogether.
- NF2 AN’s are also less uniform in shape and may be nodular with bumps or tentacles protruding. This again makes treatment, be it surgery or Gamma Knife more difficult.
What are some of the possible complications of NF2?
- Hearing loss
- Facial weakness
- Headaches
- Unsteadiness
- Cloudiness of the lens in the eye (called posterior subcapsular lens opacities) are seen in 50% of people with NF2
- Tumors on the nerves or in the brain
What is the management for Neurofibromatosis-2?
There is no cure for NF2.
but you can minimize the complications.
