Updated: 11-05-2025
What is Neurofibromatosis – Causes, Symptoms, and Treatment
Neurofibromatosis is a type of genetic disorder that disturbs the growth of the cells in the nervous system, leading to the formation of tumours on the nerve tissue.
These tumours develop at any place within the nervous system, such as the spinal cord, nerves, and brain.
Usually, these tumours 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 of the nerves, severe pain, and loss of vision.
Diagnosis/Tests of Neurofibromatosis
- 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 are conducted prenatally
Treatment for Neurofibromatosis
- 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 tumours on nerve tissue.
- Complete schwannoma 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 tumour growth, brainstem compression, or hearing loss.
Note: Surgery has its side effects and can lead to facial nerve damage and hearing loss.
- Stereotactic radiosurgery is advised to preserve your hearing ability.
- Cochlear implants and auditory brainstem implants are recommended if the patient suffers from hearing loss.
Note: Even after surgery, the tumour can regrow, making another surgery necessary.
Hence, it is advisable to consider the pros and cons of the treatment before finally taking the plunge.
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