Surveillance for Neurofibromatosis

Because neurofibromatosis type 1 affects many systems throughout the body and the types of symptoms and their severity vary so widely, access to a team of specialists with an understanding of the condition is critical. In determining a surveillance approach, NYU Langone doctors consider each person’s individual symptoms, as well as other factors such as the person’s age.

NYU Langone doctors recommend that children with neurofibromatosis type 1 have physical examinations at least twice a year until age five and then at least once a year after that. Your child’s doctor checks his or her blood pressure at least every six months to look for hypertension, or high blood pressure, which is sometimes a side effect of neurofibromatosis 1.

The doctor follows your child’s growth and development and looks for signs of scoliosis and other bone changes as well as café-au-lait spots and tumors on or under the skin. The doctor also looks for signs of early puberty, which may occur for reasons not clearly understood. A tumor on the hypothalamus, the section of the brain that is responsible for the production of hormones, may be responsible.

People with neurofibromatosis often have larger heads than usual, so doctors may check the circumference of your child’s head. Although this may not be a sign of a medical problem, in rare instances it is due to hydrocephalus, which is a buildup of fluid in the brain. Your child’s head circumference should be checked regularly, particularly in the first three years of life.

Children with neurofibromatosis type 1 should also undergo yearly neurologic exams, which may help to detect the presence of tumors forming on the nerves, and ophthalmologic evaluations, which can help detect tumors on the optic nerves or Lisch nodules, which arise as bumps on the iris.

NYU Langone doctors recommend annual visits with an ophthalmologist for children up to age 10 to screen for optic gliomas. Doctors may recommend an MRI of the brain if the ophthalmologist observes a change or is concerned about vision or early puberty.

When your child reaches school age, NYU Langone doctors recommend screening for learning disorders and attention deficit hyperactivity disorder. If necessary, our doctors can make referrals to learning and support programs at NYU Langone.

For children or adults who develop symptoms such as unexplained pain, weakness, or rapidly evolving scoliosis, NYU Langone doctors may recommend an MRI or other imaging tests to look for a plexiform neurofibroma, which is a large tumor involving multiple nerves.

In some instances, doctors may recommend the surgical removal of a tumor that is causing symptoms because it is putting pressure on a peripheral nerve or the spinal cord. Or they may perform a biopsy—meaning the removal of a piece of tissue for examination under a microscope—to be sure a tumor has not become cancerous.

For people with neurofibromatosis type 2, NYU Langone doctors often recommend audiograms, or hearing tests, typically every six months to a year. These tests can help physicians determine whether a vestibular schwannoma, or tumor that develops on the nerves leading from the ears to the brain, has developed.

These tumors can compress nerves responsible for hearing, leading to hearing loss or ringing in the ears. Results from audiograms also help our doctors know which treatment approaches might be most beneficial, such as hearing aids, or possibly surgery.

Our doctors also recommend MRIs of the brain and spine at least once a year after diagnosis, in order to check for tumors. MRIs may need to be more frequent in people whose tumors appear to be growing or who are experiencing any hearing problems.

Additionally, our doctors recommend that people with neurofibromatosis type 2 have an eye exam with an ophthalmologist every year to look for early cataract formation.

There are no standard surveillance guidelines for people with schwannomatosis. NYU Langone doctors treat each person according to his or her symptoms, and may recommend regular imaging tests, such as MRIs, to monitor tumors inside the body.