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Information on the MGH
Neurofibromatosis Clinic

2010 Clinical and
Research Report

[Brain Tumor Center @ MGH]

MGH Brain Tumor Center

Voice: (617) 724-7856
Fax: (617) 72-8769

 

NF Clinic Staff

Other closely affiliated physicians

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

NF Information

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

The Neurofibromatosis Clinic at MGH - 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.

[Bilateral vestibular schwannomas]
Typical appearance of
bilateral vestibular schwannomas (arrows) on an MRI scan of the brain.
[Cafe au lait spot in NF1]
Typical appearance of a cafe au lait spot in NF1. From Neurofibromatosis, Phenotype, natural history, and Pathogenesis.

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.

What is neurofibromatosis?

Neurofibromatosis is a genetic disorder that causes people to develop tumors of the nervous system. There are three major forms of neurofibroamtosis (NF1, NF2, and schwannomatosis) and the manifestations vary greatly between patients and families. NF1 (peripheral neurofibromatosis, von Recklinghausen disease) 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.

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.




Multiple schwannomas along the ulnar nerve in a patient with schwannomatosis. From Dr. Kaufman's recent paper in the Archives of Neurology on schwannomatosis.

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 go deaf. 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 both NF1 and 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.

More Information:

[Brain Tumor Center @ MGH]

MGH Brain Tumor Center &
Brain Tumor Research Center

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