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All about neurofibromatosis neurofibromatosis type 1 (NF1) neurofibromatosis type 2 (NF2) causes of neurofibromatosis symptoms of neurofibromatosis diagnosis of neurofibromatosis treatment for neurofibromatosis

How is neurofibromatosis diagnosed?

The diagnosis of neurofibromatosis is generally made based on physical findings. The cafe-au-lait spot (meaning literally

the color of coffee with cream) is the hallmark of neurofibromatosis. Diagnosis of NF-1 requires that at least two of the listed signs are present. Diagnosis of NF-2 requires the presence of either a mass on the acoustic nerve or another distinctive nervous system tumor. An important diagnostic clue for either NF-1 or NF-2 is the presence of the disorder in a patient's parent, child, or sibling.

Monitoring the progression of neurofibromatosis involves careful testing of vision and hearing. X-ray studies of the bones are frequently done to watch for the development of deformities. CT scans and MRI scans are performed to track the development/progression of tumors in the brain and along the nerves. Auditory evoked potentials (the electric response evoked in the cerebral cortex by stimulation of the acoustic nerve) may be helpful to determine involvement of the acoustic nerve, and EEG (electroencephalogram, a record of electrical currents in the brain) may be needed for patients with suspected seizures.

More information on neurofibromatosis

What is neurofibromatosis? - Neurofibromatosis is a genetic disorder that causes tumors to form on nerves throughout the body. Neurofibromatosis causes tumors to grow on nerves.
What's neurofibromatosis type 1 (NF1)? - Neurofibromatosis 1, also known as von Recklinghausen neurofibromatosis, is one of the most frequent dominant disorders in man.
What's neurofibromatosis type 2 (NF2)? - Neurofibromatosis type 2 (NF2) is genetic disorder characterized by the growth of benign tumors of both acoustic nerves.
What causes neurofibromatosis? - A child with neurofibromatosis has often been passed (inherited) a gene with a misprint in it from one parent. The gene causes neurofibromatosis.
What're the symptoms of neurofibromatosis? - Symptoms of neurofibromatosis include speech impairment, learning disabilities, eizure disorder.
How is neurofibromatosis diagnosed? - The diagnosis of neurofibromatosis is generally made based on physical findings.
What's the treatment for neurofibromatosis? - There are no available treatments for the disorders which underlie either type of neurofibromatosis.
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