Overview
Neurofibromatosis 2 (NF2) is a disorder in which tumors form on the nerves of the brain and spine (the central nervous system). It is passed down (inherited) in families.
Although it has a similar name to neurofibromatosis type 1, it is a different and separate condition.
Commonly Associated With
NF2; Bilateral acoustic neurofibromatosis; Bilateral vestibular schwannomas; Central neurofibromatosis
Cause
NF2 is caused by a mutation in the gene NF2. NF2 can be passed down through families in an autosomal dominant pattern. This means that if one parent has NF2, any child of that parent has a 50% chance of inheriting the condition. Some cases of NF2 occur when the gene mutates on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it.
The main risk factor is having a family history of the condition.
Symptoms
Symptoms of NF2 include:
- Balance problems
- Cataracts at a young age
- Changes in vision
- Coffee-colored marks on the skin (café-au-lait), less common
- Headaches
- Hearing loss
- Ringing and noises in the ears
- Weakness of the face
Exams & Tests
Signs of NF2 include:
- Brain and spinal tumors
- Hearing-related (acoustic) tumors
- Skin tumors
Tests include:
- Physical examination
- Medical history
- MRI
- CT scan
- Genetic testing
Treatment
Acoustic tumors can be observed, or treated with surgery or radiation.
People with this disorder may benefit from genetic counseling.
People with NF2 should be regularly evaluated with these tests:
- MRI of the brain and spinal cord
- Hearing and speech evaluation
- Eye exam
Source
Courtesy of MedlinePlus from the National Library of Medicine
