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Neurofibromatosis Neurofibromatosis Presentation Transcript

  • By: Matt Murray
  •  One of the most common single gene disorders , with an incidence of around 1 in 3000 (NF) cancer cells can attack all parts of the body because of the location in the nervous system.
  •  Friedrich Daniel von Recklinghausen, a German pathologist and professor in Strassburg, first recognized(NF) type 1 1882- Recklinghausen characterized the tumors of (NF) type 1 as neurofibromas (NF) type 1 also called (von Recklinghausen disease)
  •  1822-, Wishart, a Scottish surgeon, published the first - description of a deaf and blind boy with multiple tumors of the cranial nerves. which has been recognized as the principal form (NF) type 2 (NF) type 2 also called MISME syndrome
  •  Until 1987 these two similar but different diseases were grouped apart. 1987- the National Institutes of Health (NIH) Consensus Development Conference defined these 2 diseases as 2 distinct types of (NF) (NF1), or von Recklinghausen disease, which affects 90% of patients, (NF2), or MISME syndrome, which affects 10% of patients
  •  (NF) type 1 and 2 are Autosomal Dominant (NF) can appear in any sex. Successive generations can be effected Transmission stops after a generation in which no one is affected.
  •  The responsible gene is located on the long arm of chromosome 17 The 17th chromosome is responsible for the protein Neurofibromin, which when mutant causes (NF) type 1 Neurofibromin – protein that normally suppresses activity of a gene that causes cell division.
  •  Because of this mutation cells divide when it is inappropriate. In (NF) the cells are cancer cells. Neurofibroma -a benign tumor in the peripheral nervous system. Arise from the cells that form and support the nerve sheath. Average age of death is in the late 50’s
  •  Café-au-lait patches (6 or more) and larger than 5mm in diameter. Freckling in the arm pit/groin region optic glioma bone defects Visual skin neurofibroma(small, rubbery skin lesions) can be a couple hundred to thousands.
  •  The responsible gene is on the long arm of the 22nd chromosome. The 22nd chromosome is responsible for the protein merlin Merlin - protein that is a tumor suppressor.
  •  The type of cancer cells (MISME syndrome) Multiple Inherited Schwannomas Meningiomas Ependymomas (NF)2 –all benign tumors in the cranial and spinal region.
  •  Survival is reduced in (NF)2 Average age of death is around 32 years 50% of (NF)2 cases are new mutations
  •  Café-au-lait patches and peripheral neurofibromas can occur just like in (NF)1 Bilateral Schwannomas ( Cranial Nerve [CN] VIII) masses seen with appropriate imaging techniques ( computed tomography [CT] or magnetic resonance imaging [MRI]) Meningiomas Ependymomas
  •  Neurofibroma Congenital bowing of tibia and fibula due to pseudarthrosis Optic glioma Scoliosis Epilepsy
  •  Hypertension Nerve root compression by spinal neurofibromas Benign cancers can turn Malignant Learning disability
  •  There is no cure for (NF)type 1 or type 2 Surgery to remove the tumors is the only treatment. Depending on location of the tumor and treating it in a timely matter before the growth becomes to large and inoperable. If (NF) is found in childhood , the child should be seen every 6 months to be monitored.