Type II neurofibromatosis, also known as NF2, is a rare genetic disorder characterized by the development of tumors on the nervous system. It is considered an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
NF2 primarily affects the central nervous system, particularly the cranial and spinal nerves. The most common tumors associated with type II neurofibromatosis are bilateral vestibular schwannomas, also called acoustic neuromas, which grow on the nerves responsible for hearing and balance.
In addition to vestibular schwannomas, individuals with NF2 may also develop other types of tumors, including meningiomas, which arise from the meninges (the protective membranes surrounding the brain and spinal cord), and spinal cord ependymomas, which are tumors that form in the lining of the spinal cord.
Symptoms of type II neurofibromatosis can vary widely depending on the size and location of the tumors. Common symptoms include hearing loss, tinnitus (ringing in the ears), balance problems, facial weakness or paralysis, vision problems, headaches, seizures, and numbness or weakness in the limbs.
Although there is currently no cure for NF2, treatment options focus on controlling symptoms and preventing complications. These may include surgery to remove tumors, radiation therapy, or the use of medications to manage specific symptoms. Genetic counseling can also be beneficial for individuals with NF2, as it helps assess the risk of passing on the condition to future generations.
