A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

J Laryngol Otol. 1993 Jan;107(1):6-11. doi: 10.1017/s0022215100121991.


The neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of café-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades. Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Audiometry, Evoked Response
  • Audiometry, Pure-Tone
  • Contrast Media
  • Female
  • Gadolinium DTPA
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / physiopathology*
  • Organometallic Compounds
  • Pedigree
  • Pentetic Acid
  • Phenotype
  • Tomography, X-Ray Computed


  • Contrast Media
  • Organometallic Compounds
  • Pentetic Acid
  • Gadolinium DTPA