Neurofibromatosis (NF1) Clinic

The Neurofibromatosis Clinic at Shaare Zedek Medical Center is a multi-disciplinary clinic that treats both children and adults with NF1. The clinic helps patients and their family members with the complex monitoring and treatment by assembling all the necessary specialists in one place. Family members of NF1 patients can receive support, and patients and physicians can receive information about treatments, tests and the various clinical aspects of the disorder. The staff includes specialists in genetics, ophthalmology, dermatology, neurology and neurosurgery, radiology, orthopedics and nephrology. The patients receive a medical evaluation and are then referred to the relevant specialist.

Children and adults suspected of having NF1 or NF1 patients who were previously diagnosed will receive an initial evaluation at the clinic. After confirming the diagnosis, the staff will create a comprehensive monitoring and treatment plan. Most patients require only an annual follow-up session that includes a neurological evaluation, an eye exam and blood pressure measurements. Others require continuous care by different specialists, such as orthopedist, dermatologist or neurosurgeon.
The clinic also treats immediate relatives of NF1 patients because there is a 50% chance they might become ill themselves.

What is Neurofibromatosis (NF1)?

Neurofibromatosis is actually two distinct disorders: Neurofibromatosis type I and Neurofibromatosis type II. Type I is the more common. Its symptoms include café-au-lait spots on the skin and benign tumors along the nerve cells of the skin, the brain and other organs. Other symptoms may be learning disabilities, short stature, skeletal damage and more. The symptoms vary significantly from person to person. Sometimes they are very mild and allow for a normal life. In rarer cases the disorder is much more severe and causes great suffering and even a shorter life span. The frequency of the disorder among men and women around the world is 1 to 3600.

Diagnosis

The diagnosis is clinical, i.e. done by a geneticist based on a combination of several findings. Most patients can be diagnosed at infancy, but some develop symptoms during childhood, which delays the diagnosis. There is a genetic test for the gene that causes the disorder (NF1 gene), but currently the test is not available in Israel and is not included in the health basket. That said, the diagnosis does not depend on this genetic test.

How does a patient contract the disorder?

Each person has two copies of the NF1 gene. Neurofibromatosis patients have a mutation in one of those copies, or only one copy of the gene. In half of the cases the genetic mutation is inherited from one of the parents in an autosomal dominant heredity. These parents have a 50% chance in each pregnancy of passing the defected gene on to their offspring. In other cases both parents are healthy and the mutation occurred in one of their reproductive cells - the egg or the sperm. In such cases the chance of having another child with this disorder is only about 5%.

Monitoring and treatment

The monitoring and treatment of NF1 patients is complex and multi-disciplinary. Children suffering from this disorder should be under regular supervision of a pediatrician, as well as ophthalmology, development, blood pressure and orthopedics as need be. Routine lab tests and brains scans are not recommended if there are no suspicious indications.