Neurofibromatosis type 1 Von Recklinghausen Disease

Neurofibromatosis type 1
  • Facts:
    Autosomal dominant neurocutaneous disorder
    Chromosome 17
  • History / PE:
    Eye problems (Lisch nodules, optic gliomas)
    Cafe-au-lait spots, axillary freckles
    Bony lesions, scoliosis
    Learning difficulties
  • Notes:
    Optic gliomas present in 15% of patients with NF 1, with slowly progressive unilateral visual loss and dyschromatopsia (may see exopthalmos)
  • See Also:
    1) Neurofibromatosis type 2
    2) McCune-Albright syndrome
    3) Tuberous sclerosis
    4) Sturge-Weber syndrome

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August 5th 2010