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Neurofibromatosis 2

Definition

Neurofibromatosis 2 (NF2) is a disorder in which tumors form on the nerves of the brain and spine (the central nervous system). It may be passed down (inherited) in families.

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

Causes

NF2 is caused by a change 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. Once someone carries the genetic change, their children have a 50% chance of inheriting it.

Some cases of NF2 occur when the gene mutates on its own. This is called sporadic and is not inherited. Once someone carries the genetic change, their children have a 50% chance of inheriting it.

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 and 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 nerve 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

Support Groups

More information and support for people with NF2 and their families can be found at:

• Children's Tumor Foundation -- www.ctf.org

• Neurofibromatosis Network -- www.nfnetwork.org

References

Goldblum JR, Folpe AL, Weiss SW. Benign tumors of peripheral nerves. In: Goldblum JR, Folpe AL, Weiss SW, eds. Enzinger and Weiss's Soft Tissue Tumors. 7th ed. Philadelphia, PA: Elsevier; 2020:chap 26.

Safier RA, Cleves-Bayon C, Gaesser J.  Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.

Sahin M, Ullrich N, Srivastava S, Pinto AL. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 636.

Review Date: 12/31/2023

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.