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  1. Neurofibromatosis (NF)
    It is heriditary, hamartomatous disorder, that affects central & peripheral nervous system, skeletal, skin & deeper soft tissue. It is one of the commonest single gene disorder affecting the skeletal.
  2. NF - 1/Von Recklinghausen’s Disease
    1. Most common single gene disorder affecting human nervous system
    2. Also k/a peripherial neuro fibrotnatosis, is d/t defect in chromosome 17.
    3. AD inheritance, and 50% patients result from new mutation. 100% penetrance, i.e. individual with abnormal chromosome 17 will show same clinical feature
    4. Clinical presentation includes - cafe au — lait spots (most common feature)  axillary and inguinal freckling (2nd m.c), cutaneous neurofibromas,  plexiform neurofibromas (—5% are prematignant), Lisch nodule on iris,  verrucous hyperplasia (thickened overgrown valvety soft skin), elephantiasis (pachydermatocele), optic glioma, skeletal abnormalities (scoliosis, congenital pseudoarthrosjs of tibia, hemihypertrophy) and cognitive deficits (learning disability),
    5. Complications include epilepsy, hydrocephajus, cognitive deficits, intracranial tumor, optic glioma, short stature, precocious puberty, hypothalmic dysfunction, renal artery stenosis & hypertension.
    6. Diagnostic criteria for NF-1 are met if two or more criteria are found
      1. 6 cafe  au- lait spots, at least l5mm in greatest diameter in adults and 5mm in children.
      2. ≥2 neurofibromas of any type or one plexiform neurofibroma
      3. Axillary or inguinalfreckling (crowe’s)
      4. ≥2 Lisch nodule (iris hamartomas)
      5. Optic glioma
      6. Musculo skeletal lesion such as sphenoid dysplasia, or thinning of cortex of long bone, with or with out pseudoarthrosis
      7. A first degree relative (parent, sibling, or offspring) with NF-1 by above criteria. 

C. NF-2

  1. Also known as central neuro fibromatosis or bilateral acoustic neurofibromatosis and is due to defect in long arm of chromosome 22
  2. Less common type, AD inheritance, and 50% cases are because of new mutation
  3. Musculoskeletal deformities encountered in NF —1 are generally absent in NF- 2.
  4. 8th nerve vestibular schwannomas occur in nearly every individual with NF2 (not seen in NF1).
  5. Meningioma occur in 50% cases. 

D. Diagnostic criteria for NF-2 are met if a person has either of the following:

  1. Bilateral 8th nerve masses seen on MRI
  2. A first degree relative with NF2 and either a unilateral 8th nerve mass or two of the following
    1. Neurofibroma                         
    2. Meningioma
    3. Glioma                                   
    4. Schwannoma
    5. Juvenile posterior subcapsular lenticular opacit

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