Neurofibromatosis Type 2

Diagnosis

While the symptoms of neurofibromatosis type 2 (NF2) most often appear in young adults, the disease may be diagnosed earlier in children with a family history of the disease who receive early screening, or in children with vision problems. In some individuals with a milder form of the disorder, symptoms may not appear until age 40 or later.

Because NF2 can be inherited from either parent, a family history of the disease and the presence of a tumor (acoustic neuroma) on the auditory nerve strongly indicates that a person has neurofibromatosis type 2.

Magnetic resonance imaging is the preferred diagnostic test for identifying NF2. Other tests used to diagnose this condition include:

• Computed tomography (CT) scan of the head
• Audiology (a test for hearing)
• Caloric stimulation (a test for vertigo)
• Electronystagmography (a test of equilibrium and balance)
• Brain stem auditory evoked response (BAER, a test of hearing and brain stem function)
• Vision tests such as electroretinogram (ERG) and visual evoked potential (VEP)