Transcript neurofibromatosis - shsbiogeneticdisorders

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.
Chromosome graphic
Effected on chromosome 17
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.
Symptoms/ effects
• 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
• 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
• 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
• 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
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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.
• http://kidshealth.org/parent/general/aches/nf.html
• http://health.nytimes.com/health/guides/disease/neurofibromat
osis-1/overview.html
• http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofib
romatosis.htm
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• http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_n
eurofibromatosis.htm
• http://www.buzzle.com/articles/neurofibromatosissymptoms.html
• http://www.nfcalifornia.org/Stories.aspx
sources