Causes of Neurofibromatosis Type 2
The genetic disorder neurofibromatosis type 2 (NF2) causes tumors to grow on nerves throughout the body as a result of mutations in the NF2 gene. A person only needs one mutated copy of the gene to develop the disorder because it is inherited in an autosomal dominant pattern.
Symptoms of Neurofibromatosis Type 2
In late adolescence or early adulthood, symptoms may include:
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Hearing loss and imbalance are attributable to vestibular schwannomas: tumors on the nerves that control balance and hearing (acoustic neuromas).
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The development of tumors on other cranial and spinal nerves can affect sensation, movement, and organ function.
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The clouding of the lens in the eye causes vision problems.
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Non-cancerous skin tumors (neurofibromas) may occur.
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Tumor pressure causes headaches and seizures.
Diagnosis of Neurofibromatosis Type 2
Clinical evaluation is required for diagnosis, and may include:
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Examination of symptoms, including hearing and vision tests.
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Testing for mutations in the NF2 gene.
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Brain and spine MRI scans to detect and assess tumors.
Treatment of Neurofibromatosis Type 2
The following treatments may be used to manage symptoms:
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MRI scans are regularly performed to monitor tumor growth and assess hearing and vision.
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An operation is performed to remove tumors that are causing significant symptoms or complications.
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The purpose of radiation therapy is to shrink tumors that cannot be surgically removed.
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Treatment of vestibular schwannomas with hearing aids or cochlear implants.
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A physical therapist can help patients with nerve tumors improve their mobility and function.
Prevention of Neurofibromatosis Type 2
As NF2 is a genetic condition, there is no known prevention. However, genetic counseling can help individuals understand the risk of passing the disorder on to their children.
A straightforward overview of neurofibromatosis type 2 covers its causes, symptoms, diagnosis, treatment options, and preventive measures.
