Diagnosing NF2
The early symptoms of NF2 are symptoms of dysfunction of the acoustic
(hearing) nerve, which carries information about sound to the brain, and the
vestibular nerve, which carries balance information to the brain.
Consequently, hearing loss, ringing in the ears (called tinnitus) and
problems with balance, beginning in the teens or early twenties, are
generally the first symptoms of NF2.
Although tumors on the eighth cranial nerve are most common, persons with NF2
can develop tumors on other nerves as well. These tumors are called
"schwannomas" because they arise from "Schwann cells". Schwann cells support
and protect nerve cells and provide nerves with the insulation they need to
conduct information. The symptoms of a schwannoma will depend on their
location. Those that arise on cranial nerves (like the eighth cranial nerve
tumors) affect the head and neck unless they grow large enough to push on the
base of the brain (called the brainstem) and affect the body also. Those
which grow on the nerves as they exit the spinal cord may cause numbness of a
part of the body; some tumors may grow large enough to press on the spinal
cord and cause weakness and numbness in the legs. Those that grow in the
bundles of nerves gathered in the armpits and groin area may cause weakness
in one arm or leg. Schwannomas may even grow in tiny nerves in the skin where
one can see them. These peripheral schwannomas rarely cause neurological
symptoms but they may rub on clothing or be cosmetically disfiguring.
Other symptoms of NF2 may include facial weakness, headache, change in
vision, and a lump or swelling under the skin caused by the development of a
neurofibroma. In a family member at risk for NF2, a positive diagnosis is
suspect if mild signs of NF are found elsewhere, such as 1 or 2 café-au-lait
spots or a small lump under the scalp or skin.
How do I Know I have NF2?
If you think you or a loved one may have NF2, you should consult a
knowledgeable physician. Individuals with the following clinical features
have confirmed (definite) NF2:
Bilateral vestibular schwannomas (VS)
or
Family history of NF2 (first degree family relative)
plus
Unilateral VS<30 y or
Any 2 of the following: meningioma, glioma, schwannoma, juvenile posterior
subcapsular lenticular opacities/juvenile cortical cataract
Individuals with the following clinical features should be evaluated for NF2
(presumptive or probable NF2):
Unilateral VS<30 y plus at least one of the following: meningioma, glioma,
schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile
cortical cataract
Multiple meningiomas (2 or more) plus unilateral VS<30 y or one of the
following: glioma, schwannoma, juvenile posterior subcapsular lenticular
opacities/juvenile cortical cataract
Source: Gutmann etal., JAMA, July 2, 1997-Vol.278, No.1
A direct gene test is available for NF2. Patients and families interested in
direct gene testing for NF2 can get in touch with the DNA diagnositics
laboratory at MGH, phone (617) 726-5721 or login to the MGH website
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