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Glossary

Acoustic Neuromas - tumors of the nerves that lead from the ears to the brain which enable a person to hear. These tumors may grow and result in a hearing loss.

Audiometry - Functional testing of a person's hearing done by exposing each individual ear to various sounds in a soundproof room.

Autosomal dominant - Pattern of inheritance in which one half of an affected person's children are also affected without regards to sex of the child or parent. Autosomal refers to the fact that the genetic information for the disease lies on a non-sex chromosome. Dominant refers to the fact that only one piece of genetic information (out of the two which are received at conception) need be affected by the disease.

Biopsy - removal of tissue from the body to be examined under a microscope. The purpose is usually to deter- mine the cause of the disorder. Sometimes a biopsy is done to determine if someone has NF.

Cafe-au-lait Spot - patches on the skin that are the color of coffee with milk. Kids with NF have 6 or more cafe-au-lait spots.

Cancer - An abnormal and uncontrolled growth of cells which invades the surrounding tissues, spreads to other parts of the body, and recurs and causes death if not completely treated.

Cataract - Clouding of the lens of the eye. If not treated, cataracts may cause blindness by blocking light rays from entering the eye.
 

CAT Scan - Computed Axial Tomography-this test pro- vides highly accurate information about body and brain structures. X-ray beams are sent through the body in many directions from a source that encircles the body. The resultant x-ray beams are detected on the other side of the patient by sensors that transmit the information by a computer. After hundreds of individual beams have been received, the computer is asked to analyze and draw a picture. This test is helpful in locating tumors or other abnormal structures.

Cell - the basic unit of all organisms.

Central Nervous System (CNS) - the brain and nerves of the spinal cord. The system is central because all of the nerves of the body, except the cranial nerves which connect directly with the brain, enter or leave the spinal cord.

Chromosome - that part of the nucleus of a cell which contains the genes.

Dermal - related to the skin.

Diagnosis - the identification of a disease or disorder. Sometimes the signs and symptoms tell the diagnosis. Sometimes lab tests and x-rays also help.

Disseminated - scattered or distributed over a considerable area of the body.

Dominant - dominant is used to indicate the stronger gene in a pair. It is the gene whose message will be obeyed to produce a particular characteristic.

Elephant Man - John Merrick was a man who lived In London. England in the 1880's who had NF among other disorders. He had the worst case of NF ever known and was very deformed. His story was the basis of the play and movie. The Elephant Man. Doctors now think that John Merrick had other problems and people with NF do not have to be concerned about developing that degree of deformity.

Ependymoma - Tumor which grows from cells which line the cavities of the brain and spinal cord.

Fibroma - a fibrous, connective tissue tumor.

Gamma Knife - Form of highly focused radiation therapy.

Gene - the biological unit of heredity. Genes determine the structure and function of all proteins in the body. In turn, these proteins govern body shape and function.

Heredity - the process of passing on characteristics and traits from parent to child.

Learning Disability - when a person has an average or above intelligence but has difficulty in processing information.

Magnetic Resonance Imaging - Method of visualizing the internal structures of the body by exposing the tissues to magnetic fields and measuring their response. MRI produces highly detailed pictures of the anatomy of the body and is especially useful for visualizing the brain. MRI produces no functional information on the area scanned.

Meningioma - Tumor which grows from the cells which line the brain and spinal cord in protective sheets called meninges.

Mutation - a change in a gene that occurs by chance; it can be passed on to future generations.

Neurofibroma - a tumor composed of nerve, blood vessel and fibrous tissue.

Neuroma - tumor derived from nerve cells.

Peripheral - situated away from the center of the central nervous system, toward the surface of the body.

Physician - a person who has successfully completed the prescribed course of studies in medicine in a recognized medical school and who has met the qualifications for licensure In the practice of medicine. Some of the physicians you may come to know are listed below:

  • Dermatologist - A doctor who specializes in diseases of the skin. Because NF affects the skin, this specialist often sees people with NF.
     
  • Family Practitioner - A doctor in general practice whose extended education and practice qualifies him for certification as a family practitioner. This doctor may serve as the "general contractor" coordinating your care with oother specialists.
     
  • Neurologist - A doctor who treats diseases or disorders of the nervous system. A neurologist is the specialist with a special interest in NF and who offers specialized care.
     
  • Ophthalmologist - A doctor specializing In medical and surgical care of the eyes.
     
  • Orthopedist - sometimes called orthopods; this physician specializes in prevention and correction of disorders involving the skeleton.
     
  • Otorhinolaryngologist - a doctor who specializes in diseases of the ears, nose, and throat; he's the one they call "the E-N-T man."
     
  • Pediatrician - A doctor who specializes in the care of infants and children, usually until the age of sixteen.
     
  • Plastic Surgeon - A doctor who performs surgery for the restoration, repairer reconstruction of body structure.

    Plastic Surgery - surgery for the repair, reconstruction or restoration of body structures.

Plexiform Neurofibroma - a network of tumors which occur internally below the skin.

Prognosis - a forecast or prediction of the outcome of the course and duration of an illness based on the best information the doctor has to make a judgment.

Prosthesis - replacement of a body part. It may be a plastic eye or part that replaces a damaged organ like an arm or leg.

Pseudarthrosis - failure of a fracture to heal, resulting in a "false joint."

Psychologist - an individual who has a Ph.D. degree from a recognized university. A psychologist administers intelligence and achievement tests as well as giving guidance and counseling in dealing with everyday problems.

Puberty - the medical name for the process of changing from a child to an adult.

Radiation therapy - Form of treatment in which the tumor cells are exposed to controlled doses of X-ray irradiation. Although tumor cells are especially susceptible to irradiation, surrounding tissues will also be damaged. Radiation therapy rarely cures a tumor by itself, but may be a useful tool when used in conjunction with other forms of therapy, or when a patient can no longer tolerate other forms of therapy.

Scoliosis - is a condition that affects the curve of the spine. It is the most common orthopedic problem that children with NF have.

Schwannoma - Tumor which grows from cells which line the nerves of the body. These cells, called Schwann cells, not only protect the nerves but also provide them with the insulation they need to conduct electrical impulses to and from the brain.

Sign - any evidence of disease or disorder seen by the doctor.

Spontaneous - occurring without apparent cause.

Surgery - branch of medicine dealing with procedures for correction of deformities, defects, repair. Surgery is usually done in an operating room when you are asleep.

Symptom - any evidence of sickness perceived by patient, which cannot be seen or felt by the doctor.

Tinnitus - Ringing in the ears.

Tissue - group of cells, of one or several kinds, that make up body material such as skin, bone, blood or muscle.

Tumor - an abnormal excess growth of tissue. Tumors may be malignant, in which case they are called cancers, or nonmalignant.  Non-malignant tumors do not aggressively invade surrounding tissues or spread to other parts of the body, but they may cause significant symptoms and even death depending on their location.

Von Recklinghausen's Disease - another name for Neurofibromatosis.

X-rays - This is a test which uses a very high-energy non-visible light, capable of penetrating soft body tissue. It lets the doctor look inside your body and is used both in diagnosis and therapy.