von Recklinghausen's Neurofib... Health Article

Prevention

There is no known way to prevent the cases of NF that are due to a spontaneous change in the genes (mutation). Since genetic tests for NF1 and NF2 are available, 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, prenatal tests can be performed on the fetus during pregnancy. Amniocentesis and chorionic villus sampling are two techniques that 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. Genetic testing may also be useful for evaluating individuals with a family history of neurofibromatosis, who do not yet show symptoms.

Resources

BOOKS

Jones, Kenneth Lyons. "Neurofibromatosis Syndrome." InSmith's Recognizable Patterns of Human Malformation.Philadelphia: W.B. Saunders Co., 1997, pp. 508-9.

PERIODICALS

Bance, M., and R.T. Ramsden. "Management of Neurofibromatosis Type 2." Ear Nose & Throat Journal 78, no. 2 (1999): 91-4.

Evans, D.G. "Neurofibromatosis Type 2: Genetic and Clinical Features." Ear Nose & Throat Journal 78, no. 2 (1999):97-100.

Gillespie, J.E. "Imaging in Neurofibromatosis Type 2: Screening Using Magnetic Resonance Imaging." Ear Nose & Throat Journal 78, no. 2 (1999): 102-9.

Huson, S.M. "What Level of Care for the Neurofibromatoses?"Lancet 353, no. 9159 (1999): 1114-6.

Laszig, R., et al. "Central Electrical Stimulation of the Auditory Pathway in Neurofibromatosis Type 2." Ear Nose & Throat Journal 78, no. 2 (1999): 110-7.

MacCollin, M., and V.F. Mautner. "The Diagnosis and Management of Neurofibromatosis 2 in Childhood." Seminars in Pediatric Neurology 5, no. 4 (1998): 243-52.

North, K.N. "Neurofibromatosis 1 in Childhood." Seminars in Pediatric Neurology 5, no. 4 (1998): 231-42.

Rasmussen, S.A., and J.M. Friedman. "NF1 Gene and Neurofibromatosis." American Journal of Epidemiology 151, no.1 (2000): 33-40.

ORGANIZATIONS

Acoustic Neuroma Association. 600 Peachtree Parkway, Suite108, Cumming, GA, 30041-6899. (770) 205-8211. <http://www.anausa.org>.

March of Dimes Birth Defects Foundation. National Office, 1275 Mamaroneck Ave., White Plains, NY 10605. <http://www.modimes.org>.

Massachusetts General Hospital Neurofibromatosis Clinic. Harvard Medical School, Massachusetts General Hospital, Boston, MA 02114. (617) 724-7856. <http://neurosurgery.mgh.harvard.edu/NFclinic.htm>.

National Cancer Institute. Information Office, Building 31, Room 10A03, 9000 Rockville Pike, Bethesda, MD, 20892-2580. (800) 4-CANCER. <http://cancernet.nci.nih.gov>.

National Institute of Child Health and Human Development. Building 31, Room 2A32, MSC 2425, 31 Center Dr., Bethesda, MD, 20892. (800) 370-2943. <http://www.nichd.nih.gov>.

National Institute of Neurological Disorders and Stroke. Officeof Communications and Public Liaison, PO Box 5801, Bethesda, MD, 20824. (800) 352-9424. <http://www.ninds.nih.gov>. National Organization focused on neurological biomedical research.

The National Neurofibromatosis Foundation, Inc.(NNF). 95Pine St., 16th Floor, New York, NY 10005. (800) 323-7938. <http://www.nf.org>.

Neurofibromatosis Association (NFA). 82 London Road, Kingston upon Thames, Surrey KT2 6PX. 0208 547 1636.e-mail: nfa@zetnet.co.uk. <http://www.nfa.zetnet.co.uk>.

Neurofibromatosis, Inc. 8855 Annapolis Rd., #110, Lanham, MD 20706-2924. (800) 942-6825. <http://www.nfinc.org>.

Rosalyn S. Carson-DeWitt

Laura Ruth, Ph.D.

Audiometry

—Testing a person's hearing by exposing ear to sounds in a soundproof room.

Autosomal dominant

—Genetic information on a single non-sex chromosome that is expressed with only one copy of a gene. Child of an affected parent has a 50% chance of inheriting an autosomal dominant gene.

Cancer

—Abnormal and uncontrolled growth of cells that can invade surrounding tissues and other parts of the body. Although some cancers are treatable, recurrence and death from cancer can occur.

Cataract

—Lens of eye loses transparency and becomes cloudy. Cloudiness blocks light rays entering the eye that may lead to blindness.

Chromosome

—A structure within the nucleus of every cell, that contains genetic information governing the organism's development. There are 22 non-sex chromosomes and one sex chromosome.

Ependymoma

—Tumor that grows from cells that line the cavities of brain ventricles and spinal cord.

Gamma knife

—A type of highly focused radiation therapy.

Gene

—Piece of information contained on a chromosome. A chromosome is made of many genes.

Magnetic resonance imaging

—Magnetic Resonance imaging (MRI) measures the response of tissues to magnetic fields to produce detailed pictures of the body, including the brain.

Meningioma

—Tumor that grows from the protective brain and spinal cord membrane cells (meninges).

Mutation

—A permanent change to the genetic code of an organism. Once established, a mutation can be passed on to offspring.

Neurofibroma

—A soft tumor usually located on a nerve.