Neurofibromatosis 2
Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).
See also: Neurofibromatosis 1 (NF1)
Causes
NF2 is passed down through families in an autosomal dominant pattern. This means that if one parent has NF2, any child of that parent has a 50-50 chance of having 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
- Headaches
- Hearing loss
- Ringing and noises in the ears
- Weakness of the face
Exams and Tests
Signs include:
- Brain and spinal tumors
- Hearing-related (acoustic) tumors
- Skin tumors
Tests include:
- Genetic testing
- Medical history
- MRI
- Physical examination
Treatment
Acoustic neuromas can be observed, or treated with surgery or radiation.
Patients may benefit from genetic counseling.
Every year, patients with NF2 should be evaluated with:
- MRI of the brain and spinal cord
- Hearing and speech evaluation
- Eye exam
Support Groups
For information and support, visit www.nf.org.
Alternative Names
NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF
References
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 596.
Update Date: 11/14/2011
Updated by: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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