What is NF2?

NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2.

One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family.

In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20’s. A few people develop symptoms in childhood and some do not have problems until their 40’s or 50’s.

Affected individuals develop many nervous system tumors that may require treatment. Since the tumors grow slowly, they may be present for many years before causing symptoms. For that reason, NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.

Find out more about the new multidisciplinary NF2 Clinical Program now available at Washington University that specializes in treating children and adults with neurofibromatosis 2.

NF2 Vestibular Schwannomas

NF2 vestibular schwannomas

NF2 vestibular schwannomas

Vestibular schwannomas are tumors that develop on the eighth cranial – nerves that carry hearing and balance signals from the ears to the brain. Almost all individuals with NF2 will develop these tumors, which are commonly seen on both sides.The eighth cranial nerve contains two portions – the vestibular portion is important for balance and the acoustic portion is responsible for hearing. For this reason, some of the earliest symptoms relate to dysfunction of the eighth cranial nerve, which includes hearing loss, ringing in the ears (called tinnitus) and problems with balance. These tumors can be detected by magnetic resonance imaging (MRI) of the brain.

NF2 Schwannomas

In addition to tumors on the eighth cranial nerve, people affected with NF2 can develop other nervous system tumors, called schwannomas, which may develop on other nerves in the body. The symptoms of a schwannoma will depend on the location of the tumor. For instance, schwannomas growing on nerves near the spinal cord may cause numbness or weakness of a part of the body, like the arm or the leg.Schwannomas may also grow on small nerves in the skin appearing as a small bump. These superficial schwannomas rarely cause neurological problems, but they may rub on clothing or be cosmetically disfiguring.

NF2 Meningiomas

NF2 meningiomas

NF2 meningiomas

The second most common tumor in NF2 is the meningioma tumor that grows from the lining around the brain, causing pressure on the brain (left photo) or spinal cord (right photo).While most are benign (non-cancerous), they may cause neurologic symptoms including headache, seizures and weakness.

Other Types of NF2 Tumors

Other types of NF2 tumors

Other types of NF2 tumors

Less commonly, people with NF2 may develop other tumors affecting the brain or spinal cord including ependymomas, tumors growing on the lining of the spinal cord and brain.These tumors can cause neurological symptoms, depending on their location.

NF2 Cataracts

Image of juvenile cataract in eye of pediatric patient

Juvenile cataract – retroillumination

Some individuals affected with NF2 may develop a special type of cataract, known as a juvenile posterior sublenticular opacity, or have other problems with the eyes.Since cataracts cause clouding of the lens and are likely to impair vision if not removed, it is important for all persons with NF2 to have a detailed eye exam by a specialist familiar with NF2.