Neurofibromatosis is an inherited disorder characterised by the formation of tumours on nerve tissue as a result of a disturbance in cell growth. Any part of your nervous system may be involved. The tumours are usually benign and can form in children to young adults. Symptoms depend on the nerves that the tumours compress, and may include loss of motor or sensory function.
Neurofibromatosis is of three types:
- Neurofibromatosis 1 (NF1): NF1 is usually accompanied by characteristic light brown skin lesions, freckling in the armpits or groin, small bumps on/under the skin or in the eyes, bone deformities, large head, short stature and learning disabilities.
- Neurofibromatosis 2 (NF2): Tumours form on the auditory, visual, cranial, spinal and peripheral nerves, causing hearing loss, balance issues, pain, weakness and numbness in the arms or legs, facial drop as well as cataract formation and other problems with vision. It is less common than NF1.
- Schwannomatosis: Tumours develop on the cranial, spinal and peripheral nerves causing pain, but not on the auditory nerve that carries information on balance and sound. It is a rare form of neurofibromatosis.
Your child’s doctor performs a thorough medical and family history and physical examination to diagnose neurofibromatosis. Your vision and hearing are examined, and imaging tests may be ordered to study deep tumours and bone deformities. Genetic tests may also be performed.
There is no cure for neurofibromatosis. The doctor monitors your child’s condition and treats complications as they arise. If pain is present, your child’s doctor may prescribe appropriate medication. Surgery may be recommended to remove tumours compressing nerves and surrounding tissue. Stereotactic radiation may be helpful for removing tumours in the ear without affecting hearing and balance. In case of hearing loss, your child’s doctor may recommend implanted or external hearing aids. If the tumours are cancerous and have spread to other parts of the body, a combination of surgery, chemotherapy and radiation is performed.