Neurofibromatosis is a type of genetic disorder disturbs the growth of the cells in the nervous system leading to formation of tumors on the nerve tissue.These tumors develop at any place within the nervous system such as spinal cord, nerves and brain. Usually these tumors are benign but can turn cancerous after some time in rare cases.
Symptoms of Neurofibromatosis
The symptoms of neurofibromatosis are usually mild and can include learning impairment, hearing loss, blood and heart related complications, extreme disability caused as a result of compression in the nerves, severe pain and loss of vision.
Diagnosis/ Tests
- The symptoms of neurofibromatosis are visible right from childhood or early adulthood.
- The doctors study your medical history, family history and order different tests accordingly.
The tests include:
- Physical examination
- Review of medical history
- Eye examination
- Ear examination
- Imaging tests such as CT scans, X-rays and MRI
- Genetic tests such as NF1 and NF2 conducted prenatally
Treatment
- There is no cure for neurofibromatosis but the symptoms can be treated and the complications can be reduced through careful monitoring.
- Surgeries are recommended in case of tumors on nerve tissue.
- Complete schwannomas removal is recommended in patients suffering from schwannomatosis to get relief from pain.
- Removal of vestibular schwannomas is advised if the patient is suffering from neurofibromatosis 2 and is experiencing tumor growth, brainstem compression or hearing loss.
Note: Surgery has its own side effects can lead to facial nerve damage and hearing loss.
- Stereotactic radiosurgery is advised to keep your hearing ability.
- Cochlear implants and auditory brainstem implants are recommended if the patient suffers from hearing loss.
Note: Even after surgery, the tumor can regrow making another surgery necessary. Hence, it is advisable to consider pros and cons of the treatment before finally taking the plunge.
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