The Neurofibromatosis Clinic

The Neurofibromatosis Clinic offers a comprehensive initial evaluation to all persons in whom a diagnosis of neurofibromatosis has been suggested or confirmed. In addition to a neurological examination this includes a dermatological evaluation and referral for neuro-ophthalmological evaluation and imaging studies. Many persons come to the clinic with a diagnosis of "rule out neurofibromatosis" and the role of the clinic is to clarify whether or not that diagnosis can be made. Others come because they are a first degree relative of an NF patient and are thus at 50-50 risk for the disease. Because so much is now known about the natural history and genetic risks of these diseases, it is always important to make a clear diagnosis at the onset in any one person.

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. Many patients require no more than an annual neurological evaluation and imaging or hearing evaluations. Others have ongoing and complex medical issues such as the timing of neurological surgery, or management of intractable pain or progressive disability. 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. Some patients choose to continue care in the NF clinic and others take their management plan back to their own physicians for follow up. In all cases, 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.

Attending Physician: Scott R. Plotkin , M.D.

To schedule an appointment at the Neurofibromatosis Clinic and for all referrals, please call (617) 724-7856