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Doctors often use MRI scans to diagnose neurofibromatosis. In addition, the Neuroradiology section of the Department of Pediatric Radiology, part of Children’s Hospital’s Brain Care Institute, offers the latest testing and diagnostic technologies, including:
Learn more about Child Neurology.
To recieve a NF1 diagnosis, a person must have at least two of the symptoms that can be associated with this disease. These include:
Children with a NF2 diagnosis have fewer outward signs of the condition than individuals with NF1. This form of the disease often causes tumors on the nerves that connect the brain to both ears or on the brain itself, or particular kinds of cataracts in the eyes.
For NF2, to treat the acoustic neuromas, we consult with L. Dade Lunsford, MD, and gamma knife surgery at UPMC Presbyterian where we see children and adults (family-style) in the Neurofibromatosis Clinic.
NF is caused by a change in genetic material. NF1 is caused by a change in a gene carried on chromosome 17. NF2 is caused by a change in a gene carried on chromosome 22. The changes in the genetic material that cause NF1 and NF2 can be inherited from a parent, which is referred to as autosomal dominant inheritance. NF also occurs spontaneously at conception about 50 percent of the time, meaning that there are no other affected family members. The NF gene is always present at birth, though symptoms may not appear until later in life.
Recently, direct gene testing has become available, meaning that a patient’s blood can be tested effectively without obtaining blood samples from other relatives. Direct gene testing, however, is not 100 percent accurate. Further research is necessary to make the testing for both neurofibromatosis types more accurate.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
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Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.