Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Neurofibromatosistype 2 (NF2) is a genetic disorder that causesbenign(non-cancerous) tumors to grow in the nervous system. It is anautosomal dominant disorder, meaning that you can inherit the gene that causes NF2 from one parent.
NF2 can cause the formation of tumors on the main nerve leading from the inner ear to the brain, causing ringing in the ears and a loss of balance. Tumors that form on the brain or spinal cord can cause headaches, seizures, and other problems.
NF2 can be diagnosed with brain imaging studies and a physical exam. The condition may be routinely monitored if there are no symptoms, but surgery or radiation may be needed if a tumor is growing or symptoms develop.
This article describes the symptoms and causes of neurofibromatosis type 2, including what is involved with the diagnosis and treatment of this uncommon neurological condition.
What Is Neurofibromatosis Type 1?
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What Are Symptoms of Neurofibromatosis Type 2?
Neurofibromatosis type 2 causes tumors in different parts of the nervous system but mainly on thevestibulocochlear nervethat carries sensory information from the inner ear to the brain. These tumors, calledvestibular schwannomas, typically affect nerves in both ears, causing:
NF2 may also cause benign tumors on the brain and spinal cord, known asmeningiomasandgliomas, that can lead to:
People with NF2 are at an increased risk ofcataracts(clouding of the eye’s lens). Light-brown skin spots are also characteristic of the disorder.
What Causes Neurofibromatosis 2?
Neurofibromatosis type 2 is a genetic disorder with anautosomal dominant pattern. It involves a mutation of the gene located on chromosome 22, called theNF2gene.
With an autosomal dominant pattern, only one parent needs to contribute thegene mutationfor the child to inherit the disease. In short, if one of your parents has theNF2gene, you have a 50% chance of getting it, too.
Less commonly, the gene mutation first appears in the individual (called a de novo mutation) in someone with no family history of neurofibromatosis type 2.
The NF2 gene encodes the production of a protein called merlin, which can clump together around nerve cells to form benign tumors.
NF2 is a relatively uncommon condition, affecting roughly one of every 40,000 people. The symptoms are typically noticed between the ages of 18 and 22.
The risk of NF2 tumors becoming cancerous is low.
How Is Neurofibromatosis Type 2 Diagnosed?
Central to the diagnosis of neurofibromatosis type 2 ismagnetic resonance imaging (MRI). This medical imaging tool is highly sensitive and can readily detect schwannomas, meningiomas, and gliomas. An eye exam would also needed to check for cataracts.
Neurofibromatosis type 2 can be diagnosed if you have any of the following:
Since hearing loss is characteristic of NF2, a hearing test (audiometry) would be performed. Brainstem auditory evoked response (BAER) tests can help determine whether the eighth cranial nerve is functioning properly.
Genetic testing for mutations in theNF2gene is available for people diagnosed with NF2.
What age do people get neurofibromatosis type 2?
How Is Neurofibromatosis Type 2 Treated?
Scientists have not yet found a way to stop tumor growth in people with neurofibromatosis type 2. Surgery can be used to remove tumors if they are causing pain or affecting your vision or hearing. Radiation treatments can help shrink tumors, particularly those difficult to access with surgery.
If tumors are small and asymptomatic (without symptoms), your healthcare may take a watch-and-wait approach, known as “active surveillance,” and only act if the tumor suddenly gets bigger or causes symptoms. In such cases, annual MRIs may be recommended.
Other symptoms such as pain, headaches, or seizures can be managed with medications like nonsteroidal anti-inflammatory drugs (NSAIDs) or anticonvulsants.
Summary
Neurofibromatosis type 2 (NF2) is an uncommon genetic disorder that causes different types of benign tumors in the nervous system. Symptoms include tinnitus, hearing loss, and unsteadiness.
NF2 is an autosomal dominant disorder that you can inherit from one parent. Less commonly, the gene mutation associated with NF2 will develop spontaneously in an individual.
The diagnosis of NF2 is based largely on a physical exam and MRI. Treatment may involve active surveillance if tumors are small and asymptomatic; larger tumors may require surgery or radiation.
Neurofibromatosis Type 1 (NF1) and PN Tumor Complications
2 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Institute of Neurological Disorders and Stroke.Neurofibromatosis.D Gareth Evans, MD, FRCP.NF2-Related Schwannomatosis.GeneReviews [Internet] Updated April 20, 2023.Additional Reading"Learning About Neurofibromatosis." Specific Genetic Disorders. 27 Nov 2007. National Human Genome Research Institute.“Neurofibromatosis Fact Sheet.” Disorders. 13 Dec 2007. National Institute of Neurological Disorders and Stroke.
2 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Institute of Neurological Disorders and Stroke.Neurofibromatosis.D Gareth Evans, MD, FRCP.NF2-Related Schwannomatosis.GeneReviews [Internet] Updated April 20, 2023.Additional Reading"Learning About Neurofibromatosis." Specific Genetic Disorders. 27 Nov 2007. National Human Genome Research Institute.“Neurofibromatosis Fact Sheet.” Disorders. 13 Dec 2007. National Institute of Neurological Disorders and Stroke.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Institute of Neurological Disorders and Stroke.Neurofibromatosis.D Gareth Evans, MD, FRCP.NF2-Related Schwannomatosis.GeneReviews [Internet] Updated April 20, 2023.
National Institute of Neurological Disorders and Stroke.Neurofibromatosis.
D Gareth Evans, MD, FRCP.NF2-Related Schwannomatosis.GeneReviews [Internet] Updated April 20, 2023.
“Learning About Neurofibromatosis.” Specific Genetic Disorders. 27 Nov 2007. National Human Genome Research Institute.“Neurofibromatosis Fact Sheet.” Disorders. 13 Dec 2007. National Institute of Neurological Disorders and Stroke.
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