Neurofibromatosis Case Essay

Published: 2020-04-22 08:25:15
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Category: Nervous system

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Effects / Symptoms

Neurofibromatosis causes a deficiency targeting the nervous system as part of a genetic disorder. The two most common types are abbreviated into NF1 and NF2. NF1 is characterized by caf au lait spots, or patches of tan and light brown skin. Another characteristic would be neurofibromas, which are soft, fleshy growths that grow on the skin, and in some cases, under it. The disorder also enters the skeletal level and enlarges and distorts bones as well as adds curvature to the spine. Occasionally tumors develop on the brain or spinal cord. Half of the people with NF1 also inhibit learning disabilities. The less common disorder, NF2, characterizes itself by multiple tumors on cranial and spinal nerves. Hearing loss will nearly inevitably occur in the early teens for people with NF2.

Genetic Cause

Most commonly Neurofibromatosis is passed on by family members through genes. However, 30 to 50% of newly diagnosed people have no family history of the condition, which can be attributed to a spontaneous mutation in the gene. Once this mutation has occurred, future generation will be at risk of getting the disorder.

Genetic Cause

The causes of Nf1 are a mutation on the 17 chromosome at q11.2. The mutation mainly affects the development of nerve cells and tissues. The changes in nerve tissues cause tumors or other abnormalities. The tumors can be harmless, in some situations. Nf1 is dominant and autosomal; meaning it will affect males and females equally. Nf2 is a slightly different. Nf2 is characterized by a mutation on the 22q12.2 chromosome. Nf2 is also autosomal dominant. The mutations has significant physical causes consisting of meningiomas and other symptoms consisting of a lot of big words that not even spell check understands. The main idea of the symptoms is that theyll grow deformities, usually internally, on the spinal cord and other nerve tissues. These deformities can result in loss of hearing, blindness, etc.


There is no cure for each Nf1 and Nf2, so tough luck if you have it, but there is some good news. Type one of neurofibromatosis is less potent than type two because type two forms tumors on spinal tissue, brain tissue, and other nerve tissue that cause problems to motor skills, with this knowledge it can be concluded that surgery is the best course of treatment for type two. Surgery focuses on removing these tumors, increasing the effectiveness of the effected nerves. However false hope is not being circulated through this class brochure and it should be known that surgery will not serve as a cure, only an attempt to reduce the symptoms of the disease.

For type one surgery can be used for treatment, however because the tumors dont affect nerve tissue the surgery wont be as an effective treatment. It should be noted that new laser techniques have been promising, however nothing has completely removed the caf au lait spots, so if your aiming to get rid of those than your luck hasnt come through for you, because no technique has permanently removed them. Chemotherapy has been used for this disease, but is widely controversial. However it simply comes down to a personal decision.

Work Cited Websites

OMIM Entry # 162200 NEUROFIBROMATOSIS, TYPE I; NF1. OMIM Entry # 162200 NEUROFIBROMATOSIS, TYPE I; NF1. John Hopkins University, n.d. Web. 18 Feb. 2013.

Evans, D. Gareth. Summary. Neurofibromatosis 2. U.S. National Library of Medicine, 14 Oct. 1998. Web. 18 Feb. 2013.

NINDS Neurofibromatosis Information Page. Neurofibromatosis Information Page: National Institute of Neurological Disorders and Stroke (NINDS). N.p., n.d. Web. 18 Feb. 2013.

Work Cited Book

Rubenstein, Allan E., Richard P. Bunge, and David E. Housman. Neurofibromatosis. New York, NY: New York Academy of Sciences, 1986. Print.

DiSimone, Ronald E., and Arnold T. Berman. Neurofibromatosis. Philadelphia: Lippincott, 1989. Print.

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