Neurofibromatosis Clinic

Understanding a common condition.

Neurofibromatosis (NF) is among the most common genetic disorders and can affect anyone, regardless of family history, age, race, gender, or ethnic background. There are two types of NF: type 1 (NF1) and type 2 (NF2).

NF1 affects approximately one out of every 3,000 people. NF2 affects one out of every 35,000 people. Both forms are characterized by the growth of benign tumors called neurofibromas. These tumors can grow anywhere in the body where there are nerve cells, including just under the surface of the skin, as well as deeper within the body, spinal cord, and/or brain.

In NF1, neurofibromas most commonly grow on the skin or on the nerves of the eyes. A tumor that grows on one of the nerves of the eyes is called an optic glioma. If it grows large enough, it can cause problems with vision and even blindness.

In NF2, neurofibromas most commonly grow within the spinal cord or brain. Specifically, the tumors are found on the nerves of the ear and can involve the branches that help hearing or balance. These so-called acoustic neuromas, if large enough, can lead to deafness or invade other parts of the base of the brain.

Research and Clinical Studies

Children’s Hospital’s Brain Care Institute is a leader in neurological research and has made major discoveries in understanding the genetic, molecular, cellular, and organizational bases for many of these conditions. Faculty members in the Brain Care Institute receive more than $1 million in federal corporate and foundation research funding each year to continue studying these disorders.

Current research and clinical trials in the area of neurofibromatosis include:

  • How plexiform neurofibroma (PNF) tumors respond to weekly dosages of Peginterferon alfa-2b (also known as PEG-Intron), a long-acting form of interferon
  • Exploring the side effects of Peginterferon alfa-2b and evaluating “volumetric analysis,” a new method of measuring changes in tumor size using magnetic resonance imaging (MRI) scans
  • Refining the use of genetics to diagnose Neurofibromatosis
  • Incidence of migraine headache in the NF population
  • Mood disorders in the NF population
  • Natural history of optic glioma studies

Learn more about Child Neurology.



Amy Goldstein, MD

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Christina Patterson, MD

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Kathy Gardner, MD

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  • Neurology

    Children's Hospital of Pittsburgh of UPMC
    4401 Penn Avenue
    Floor 2
    Pittsburgh PA , 15224