Neurofibromatosis

Neurofibromatosis (NF) is a set of complex genetic disorders that affects almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body. There are three distinct types of neurofibromatosis: NF1, NF2 and Schwannomatosis.

Neurofibromatosis Type 1 (NF1) is among the world’s most common genetic disorders, occurring in about one of every 2,500 births. This makes it more widespread than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay Sachs combined. Diagnosed most often in children, NF1 occurs worldwide and in all races, ethnic groups and both sexes. While half of all affected persons inherit the disorder from one of their parents, NF1 can arise spontaneously in any family through mutation (change) in the NF1 gene. Treatments for NF1 are presently aimed at controlling symptoms, but surgery can help to alleviate painful and disfiguring tumors.

Typically recognized when infants are found to harbor lightly pigmented birthmarks (café-au-lait macules), children with NF1 are predisposed to:

  • Learning and behavioral problems (cognitive delays, attention deficit, autism)
  • Brain tumors (optic pathway and brainstem gliomas)
  • Extensive nerve sheath tumors (plexiform neurofibromas)
  • Bone defects (tibial pseudarthrosis, scoliosis)
  • Heart problems
  • Seizures

Adults can develop benign nerve tumors involving the skin or internal organs (neurofibromas) and deadly cancers (malignant peripheral nerve sheath tumors, breast and brain cancers).

While there is no cure for NF1, research throughout the world is providing hope that new treatments and management strategies will eventually transform the practice of medicine for people affected with NF1.

The Washington University Neurofibromatosis (NF) Center Clinical Care Program at St. Louis Children’s Hospital, led by David H. Gutmann, MD, PhD, has extensive expertise in treating individuals with neurofibromatosis. The NF Center’s multidisciplinary team of specialists is one of the largest in the country dedicated to the treatment and research of NF. More information about NF can be found on the Washington University Neurofibromatosis (NF) Center website.

Patient care contact information:

Erika Ramirez
Pediatric Neurology
Washington University School of Medicine
660 S. Euclid Avenue, Campus Box 8111
St. Louis, MO 63110
Phone: (314) 454-6120
Fax: (314) 454-2523
NFClinic@neuro.wustl.edu

Patients are seen at:

St. Louis Children’s Hospital
One Children’s Place
2nd floor, Suite D
St. Louis, MO 63110