Neurogenetic Surgery Center: The Neurogenetics Clinic The Neurofibromatosis Clinic The Von Hippel-Lindau Clinic
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The NF clinic at MGH

See the NF Clinic: Founded in 1982 by Dr. Robert Martuza, the MGH NF Clinic was one of the first to acknowledge the unique multi-disciplinary problems that the NF patient and family face--and the vital role that a dedicated clinic plays in the research community. 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 providors involved with the patient and family, and the clinic staff is available to discuss questions with care providors as needed.

Scott Plotkin, M.D., Ph.D.
Clinical Director
SPlotkin@partners.org

Other closely affiliated physicians

Robert L. Martuza, M.D.
Henry Mankin, M.D.
Michael McKenna, M.D.

Referrals and Appointments:
To make an appointment in the
NF clinic at MGH call
(617) 724-7856.

Neurogenetics Clinic

See the NG Clinic: Multidisciplinary management of inherited neurologic syndromes including tuberous sclerosis and von Hippel-Lindau disease. Members of the unit are also active in research into the genetic basis of and treatments for a variety of inherited neurologic diseases.

For more information or to refer a patient contact:

Katherine B. Sims, M.D.
email: sims@helix.mgh.harvard.edu
Director, MGH Neurogenetics Unit
Wang ACC-835
Massachusetts General Hospital
Boston, MA 02114
phone: (617) 726-5732
fax: (617) 726-9620


To make an appointment with a physician in the Neurogenetics Unit or for general questions contact at 726-5732.

The Von Hippel-Lindau Clinic

	Neurogenetic Surgery Center: The Neurogenetics Clinic The Neurofibromatosis Clinic The Von Hippel-Lindau Clinic
	Neurogenetics Links | Neurofibromatosis Links | VHL Links Neurogenetic Surgery Guestbook