Neurofibromatosis (NF) is an unpredictable, progressive disorder that may be inherited or acquired through spontaneous genetic mutation, and it varies in medical, physical and psychological manifestations. NF consists of three genetic disorders that cause tumors to grow around the nerves. Although most tumors caused by NF are benign, they may still cause problems with the spinal cord and surrounding nerves, including paralysis in some patients. Nearly 10% of tumors will develop into malignant cancers. For patients with malignant tumors and tumors affecting the spine, early detection and treatment offers the best chance of survival and prevention of debilitating side effects.
Neurofibromatosis type 1 (NF1) is the most common neurological disorder caused by a single gene. Most NF1 patients have mild to moderate symptoms, but it is a progressive disorder that can lead to disfigurement, skeletal abnormalities and learning disabilities.
Neurofibromatosis type 2 (NF2) is much rarer than NF1 and is characterized by tumors on the vestibular nerve. NF2 brings an increased risk of other types of nervous system tumors and may cause severe vision problems.
Schwannomatosis has been distinguished more recently from NF1 and NF2 by the presence of multiple schwannomas (tumors that grow around nerves without involving the skin or other organs) everywhere in the body except on the vestibular nerve.
Neurofibromatosis Type 1
Two or more Lisch nodules (growth on the eye's iris)
Neurofibromatosis Type 2
NF2 is distinguished by tumors that grow on the hearing nerves, usually causing partial or complete deafness.
Our specialists diagnose neurofibromatosis primarily by giving a thorough physical exam. In addition, we have experts that conduct special genetic testing and/or perform MRI and CT scans for more complex cases of NF. After a complete assessment, the physicians are able to better determine the risk for tumor development in the patient. The Children's Cancer Hospital also provides a pediatric neuropsychologist to determine any learning disabilities the patient may be facing.
Treatment for neurofibromatosis varies according to the location and type of tumor(s) present. For growing pediatric brain tumors, the standard treatment is chemotherapy, but surgery and radiation may also be required. Peripheral nerve and spinal tumors are treated with surgery, and malignant nerve and spinal tumors are treated with a combination of surgery, radiation and chemotherapy. Due to the majority of patients that experience learning disabilities, the Children's Cancer Hospital has developed a special intervention program to assist these patients with educational support needs.