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neurofibromatosis. Jordan burton.  is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities . Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth.

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neurofibromatosis

neurofibromatosis

Jordan burton

what is it

 is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities.

  • Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth.
  • Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.
  • Schwannomatosis causes intense pain. It is the rarest type.
What is it?
chromosome graphic
Chromosome graphic

Effected on chromosome 17

symptoms effects

Effects vary— some children live almost unaffected, others might be severely disabled. affects the brain, spinal cord, nerves, skin, and other systems in the body.

Symptoms of NF1:

  • cafe au laitspots
  • bone deformities
  • problems in learning skills, but mild.
  • having a larger than normal brain size
  • NF2:
  • hearing loss, ringing in ears.
  • unsteadiness while walking
  • weakness in the limbs, and  cataracts.
Symptoms/ effects
diagnosis prognosis

passed down through the parents' genes

  • often diagnosed in childhood, occasionally in infancy, usually around 3-16 years of age
  • Symptoms worsen over times.
  • Most people have normal life expectancy
Diagnosis & prognosis
treatment

No treatment to prevent NF

  • Surgery is often recommended to remove tumors that become symptomatic and may become cancerous
  •  Treatment for neurofibromas that become malignant may include surgery, radiation, or chemotherapy
  • Some bone malformations can be corrected with surgery
  • Children with learning disorders will have extra teachers in the class.
treatment
current research

Researchers recently located the exact position of the NF1 gene on chromosome 17.

  • research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth.
  • also how the genetic mutations that cause the benign tumors of NF1 also cause nerve cells and nerve networks to form abnormally during fetal development
Current research
genetic counseling

serves as a comprehensive resource for health care professionals providing genetic counseling to patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1

  • Specifically, to review the history, epidemiology, and genetics of NF1
  • To summarize the current understanding of the natural history of NF1
  • To provide a framework for the genetic counseling sessions of individuals and families with NF1
  • To present a list of resources for patients and families with NF1
Genetic counseling
shannon lee gentile

diagnosed with Neurofibromatosis Type 2. At the time, she was 15 years old.

  • At 16, two open brain surgeries removing Acoustic Neuromas from the left and right side of her brain. The surgeries took her hearing, her balance and left both sides of her face paralyzed.

complications that Shannon suffered from:

  • Tumors removed from her upper spinal region
  • eyelid closures to prevent cornea damage
  • Removal of vaginal tumors
  • Removal of lower lumbar spinal tumors
  • Removal of a Meningioma tumor on the brain
  • many Stereotactic Radiosurgeries
  • seizures
  • Paralyzed left vocal chord; unable to speak and swallow.
  • She received her Associates degree in Applied Science from the National Technology Institute for the Deaf.
  • She worked on medical research on Cancer.
  • She was published in "Biochemical Pharmacology,". back to school, part time, and received a Bachelor's Degree.
  • Shannon Lee Gentile, age 33, passed April 29, 2004 from complications of NF Type 2.
Shannon Lee Gentile
sources

http://kidshealth.org/parent/general/aches/nf.html

  • http://health.nytimes.com/health/guides/disease/neurofibromatosis-1/overview.html
  • http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm
  • http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm
  • http://www.buzzle.com/articles/neurofibromatosis-symptoms.html
  • http://www.nfcalifornia.org/Stories.aspx
sources