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Neurofibromatosis 2

Causes

NF2 is passed down through families in an autosomal dominant fashion. 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
Facial weakness
Headaches
Hearing loss
Ringing and noises in the ears
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 http://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: 10/14/2009

Updated by: Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Categories: Uncategorized

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