Neurofibromatosis2 (NF2) is considerably more rare than NF1 occurring in 1:25,000 births. NF2 is characterized by multiple tumors on the cranial and spinal nerves as well as auditory nerves.
Hearing loss is the hallmark of NF2 and often begins in the teens or early twenties as the first symptom. Affected acoustic and vestibular nerves are also responsible for the common symptoms of tinnitus (ringing in the ears) and loss of balance.
Tumors on the eighth cranial nerve are most common; however, persons with NF2 can develop tumors on other nerves as well, arising from Schwann cells (schwannomas). Schwann cells protect nerve cells and provide them with the insulation necessary to conduct information. Depending on their placement, schwannomas can be responsible for numbness to affected limbs, and when large enough, can put pressure on the spinal cord or limbs causing weakness and numbness.
Other symptoms of NF2 may include facial weakness, headache, change in vision, and lump or swelling under the skin as a result of development of a neurofibroma.
As with any diagnosis, it is important to work with a knowledgeable medical professional. The diagnostic criteria for a definite clinical diagnosis of NF 2 are:
Individuals with the following features should be evaluated for NF2 (Probable NF2):
Your doctor will play an important part in helping you properly monitor and navigate your NF2. These are a few things you can expect:
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