What is Neurofibromatosis?
Neurofibromatosis is a group of rare genetic disorders that cause tumours to form on the nerve tissue. The tumours can develop in any spot of the nervous system – brain, spinal cord and/or nerves. These tumours are usually benign but they can also become cancerous or malignant.
What are the symptoms of Neurofibromatosis?
Neurofibromatosis 1
Café-au-lait macules
Freckling
Neurofibromas
Bone deformities
Optic glioma
Short stature
Larger than average head size
Neurofibromatosis 2
Schwannomatosis
- Neurofibromatosis 1 (NF1)
- Neurofibromatosis 2 (NF2)
- Schwannomatosis
Neurofibromatosis is caused by mutations that are genetic or occur at conception. The specific genes mutated depend on the type of neurofibromatosis.
- Family history
- New gene mutations
Neurofibromatosis is usually diagnosed in childhood or early adulthood.
Treatment for this disease looks at maximising healthy growth and development and managing complications.
- Constant monitoring
- Therapies like
- Stereotactic radiosurgery
- Medications
- Surgery
