What's the treatment for neurofibromatosis?
There are no available treatments for the disorders which underlie either type of neurofibromatosis. To some extent, the symptoms of NF-1 and NF-2 can be treated individually. Skin tumors can be surgically removed. Some brain tumors, and tumors along the nerves, can be surgically removed, or treated with drugs (chemotherapy) or x-ray treatments (radiation
therapy). Twisting or curving of the spine and bowed legs may require surgical treatment, or the wearing of a special brace.
For most of the features, like café au lait spots and Lisch nodules, no treatments may be needed. Because some people with neurofibromatosis can have a disfigurement from a neurofibroma if it is particularly large or numerous, surgery can be performed to remove these tumors. The tumors have a tendency to come back, however. Sometimes the tumors are in such a place that they cannot be removed. Tumors that cause pain or loss of function are removed on an individual basis. Tumors that have grown rapidly should be removed promptly as they may become malignant. Experimental treatments for severe tumors are being studied.
Treatments for Neurofibromatosis Type 2 involve surgery, radiation therapy (localized treatment of tumors with targeted x-ray beams) or both for the tumors. The type of treatment depends on the nature and location of the tumor. Cataract surgery also may be necessary in some patients. For a child with a parent with Neurofibromatosis Type 2, periodic hearing tests into adolescence and young adulthood are recommended.
In cases of scoliosis (see Patient Guide to Scoliosis) it may be necessary to brace the spine. This is done when the curve is over 25 degrees and does not have a sharp angle. More severe scoliosis may require the placement of metal rods along the back of the spine to straighten the curvature.
In cases where one leg grows longer than the other, a surgeon can fuse the growth plate so that the shorter leg has time to catch up. There are also techniques to lengthen the shorter leg.
There is no known way to prevent the approximately 50% of all NF cases which occur due to a spontaneous change in the genes (mutation). New cases of inherited NF can be prevented with careful genetic counseling. A person with NF can be made to understand that each of his or her offspring has a 50% chance of also having NF. When a parent has NF, and the specific genetic defect causing the parent's disease has been identified, tests can be performed on the fetus (developing baby) during pregnancy. Amniocentesis or chorionic villus sampling are two techniques which allow small amounts of the baby's cells to be removed for examination. The tissue can then be examined for the presence of the parent's genetic defect. Some families choose to use this information in order to prepare for the arrival of a child with a serious medical problem. Other families may choose not to continue the pregnancy.