How We Evaluate and Treat Neurofibromatosis (NF)

Most children visiting the Neurofibromatosis Center are referred by their pediatrician, who has noticed an abundance of café au lait birthmarks on the patient, raising concerns that he or she may have NF1. (One or two café au lait spots can be common in the general population. More than three likely warrants an evaluation.)

The Neurofibromatosis Center’s team helps families zero in on accurate diagnoses, understand and process those diagnoses, and then navigate the best paths forward. Many patients we see don’t need surgery, medication, or other treatments for their disease but do require screening to identify features where a treatment may improve health. Sometimes the best path does require imaging and/or more extensive genetic testing and analysis. For example, testing can help to distinguish between NF1 and a condition called Legius syndrome, which, although it looks like NF1 because it involves café au lait spots and freckling, does not produce tumors. It is helpful to be able to tell parents that a child has Legius syndrome instead of NF1, for example, because it means that the child is unlikely to develop an optic pathway glioma and would not need screening by an eye doctor.

Often the best course is simply close and constant observation. Because NF1 patients do have a greater-than-normal chance of complications and the findings are age-related, annual or twice-yearly checkups that include evaluations of the eyes and nerves are important. And if tumors do form, our specialists are adept at catching and addressing them before they harm nerves, brain tissue, or other parts of the body.

Sometimes the results of even early diagnostic exams and/or genetic tests point the way to proactive medical treatments that may include surgery, chemotherapy, or other medical interventions. In those cases, our teams are ready and well equipped to move skillfully forward.

Two extraordinary specialties of the NF Center are our expertise treating cancerous manifestations of NF1 and the skeletal defects that are uncommon but serious symptoms.

Because NF1 can affect so many different parts of the body, the multidisciplinary strength of the NF Center is key to the success of our young patients and the positive experiences of their families. Neurofibromatosis Center co-directors Cynthia Campen, MD, a neurologist with expertise in oncology, and medical geneticist David A. Stevenson, MD, are points of contact for each patient and family. But they have close relationships with subspecialists in many other fields too: Neurosurgery, ophthalmology, oncology, orthopedics, dermatology, and cardiology are all close at hand.

The NF team has had excellent success with MEK-inhibition medication, a chemotherapy agent that is effective at stopping the growth of the tumors—plexiform neurofibromas and gliomas—that sometimes arise in NF1 patients. Our team also includes researchers who are involved in investigating various new therapies.

Our experienced genetic counselors are trained to help patients and their families understand the results of their genetic tests and to help place those results in the broader context of each patient’s family and life.

More than half of NF1 patients also struggle with learning difficulties. We offer assistance from our extraordinary Hospital Educational Advocacy Liaisons (HEAL) program. HEAL gives patients and families access to neuropsychological testing and school advocacy. The program helps each student patient hit his or her best academic stride.