neurofibromatosis

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neurofibromatosis

• Jordan burton

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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.

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Chromosome graphic
Effected on chromosome 17
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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 lait spots
• 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.

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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

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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.

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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

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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

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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.

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sources

• http//kidshealth.org/parent/general/aches/nf.html
  
• http//health.nytimes.com/health/guides/disease/ne
  urofibromatosis-1/overview.html
• http//www.ninds.nih.gov/disorders/neurofibromatos
  is/neurofibromatosis.htm
•  
•  
• http//www.ninds.nih.gov/disorders/neurofibromatos
  is/detail_neurofibromatosis.htm
• http//www.buzzle.com/articles/neurofibromatosis-s
  ymptoms.html
• http//www.nfcalifornia.org/Stories.aspx