The Neurofibromatosis (NF) Clinic is an interdisciplinary clinic that provides comprehensive evaluation and medical management for adults and children with NF. The clinic also provides support services for the families of people with NF. The Neurofibromatosis clinic serves as a resource center to physicians and patients regarding the variable clinical presentation of NF, treatment, testing and referral options, and the latest clinical and genetic research.

The Neurofibromatosis Clinic staff includes physicians in the subspecialities of Genetics, Neurology, Ophthalmology, Dermatology, Neurosurgery, Neuroradiology, Orthopedics, and Nephrology. Our team includes genetic counselors, developmental psychologists and social workers as well. Patients are seen by the necessary subspecialist regarding any change in status and then referred on to a particular subspecialist for additional treatment as required.

The Neurofibromatosis Clinic offers a comprehensive initial evaluation to all persons in whom a diagnosis of neurofibromatosis has been suggested or confirmed. When a person comes to the clinic with a diagnosis of "rule out neurofibromatosis" our role is to clarify whether or not that diagnosis can be made. Other patients come because they are a first degree relative of an NF patient and are thus at 50% risk for the disease.

Once a diagnosis of NF or a related condition is established, the staff works with the patient and family to devise a comprehensive management plan. Case management and ongoing counseling are provided as well as new information concerning advances in treatment and testing for these disorders. Many patients require no more than an annual neurological evaluation and imaging or hearing evaluations. Others have ongoing and complex medical issues. Genetic counseling is relevant at almost every visit, as genetic concerns evolve with patient's life. The role of genetic counseling is also changing as our abilities to make molecular diagnosis improve for both NF1 and NF2. When patients choose to continue care with their own physicians, the results of the evaluation are communicated to the patient's primary care physician and any other care providers involved with the patient and family, and the clinic staff is available to discuss questions with care providers as needed.

What is Neurofibromatosis?
Neurofibromatosis (NF) is one of the most common genetic conditions worldwide, regardless of family history, race, sex, or ethnic background. There are three major forms of neurofibroamtosis (NF1, NF2, and schwannomatosis) and the manifestations vary greatly between patients and families.

Neurofibromatosis type 1 (NF1, peripheral neurofibromatosis, von Recklinghausen disease) is one of the most common hereditary tumor-predisposing disorders. It is a chronic condition characterized by skin pigment changes and neurofibromas. NF1 is almost always apparent in infancy and early childhood. Persons with NF1 develop multiple neurofibromas, cafe au lait macules and Lisch nodules of the eye. Some people with NF1 also have other manifestations such as learning disability, macrocephaly, bony abnormalities and malignancy. Neurofibromas arise from nerves and may appear in or just under the skin, near the cranium, the spinal root, or other parts of the body. These tumors are usually benign, but can sometimes put pressure on surrounding structures, causing pain or loss of function. NF1 is one of the most common dominantly inherited genetic disorders, occurring with prevalence at birth of approximately one in 3000 individuals. Almost half of all affected individuals have a de novo mutation.

NF2 (central neurofibromatosis, bilateral acoustic neurofibromatosis) is usually not apparent until the teenage years. NF2 causes tumors to develop on both nerves to the ears (bilateral vestibular schwannomas or acoustic neuromas). Everyone with NF2 develops bilateral vestibular schwannomas and everyone with bilateral vestibular schwannomas has NF2. The disorder ranges from mild to severe, with the severest form usually found in younger children. NF2 affects one out of every 40,000 individuals. It is an autosomal dominant disorder; therefore every child of an affected individual has a 50% chance for inheriting the disease.

Schwannomatosis is a rare form of NF that has only recently been recognized. People with schwannomatosis develop multiple schwannomas on cranial, spinal and peripheral nerves- but they do not develop vestibular tumors and do not loose their hearing. Affected individuals usually have much greater problems with pain than with neurological disability, although as with all forms of NF, schwannomatosis may vary greatly between patients.

Because NF1, NF2 and schwannomatosis are relatively rare disorders that can cause a number of neurological and medical consequences, a network of specialized NF clinics has been developed throughout the world. We developed this clinic here at Shaare Zedek Medical Center as we acknowledged the unique multi-disciplinary problems that the NF patient and family face, and the need for such a clinic in the Jerusalem area.

Contact information
The NF clinic operates at Shaare Zedek Medical Center
in Jerusalem, Israel.
Telephone number for appointments: 02-6666435 or fax: 02-6666935.
 
Staff
Medical Genetics: Reeval Segel MD
Pediatric neurology: Ruth Shalev MD
Orthopedics: Ehud Lebel, MD
Ophthalmology: Paul Cohen, MD
Nephrology and Hyprtension: Yaacov Frishberg, MD
Neurosurgery: Shlomo Constantini MD (Dana Children's Hospital)