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Neurofibromatosis 2

Definition

Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).

Although it has a similar name to neurofibromatosis type 1, it is a different and separate condition.

Alternative Names

NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF

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% chance of inheriting the condition.

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)
  • 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.ctf.org.

References

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 589.


Review Date: 10/29/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, 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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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