Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2

Am J Med Genet. 1991 Dec 1;41(3):325-9. doi: 10.1002/ajmg.1320410313.

Abstract

We report on a family in which individuals at risk for NF 2 were investigated with the use of gadolinium-enhanced MRI. This technique has allowed the diagnosis of small (less than 8 mm) acoustic neuromas in two asymptomatic children (age 7 and 11), one of whom had normal audiometric and brainstem-evoked response testing. To our knowledge these are the youngest asymptomatic patients in whom the diagnosis of NF 2 has been demonstrated. It is possible that acoustic neuromas develop at an early age more commonly than recognized previously. The early diagnosis of acoustic neuromas with the use of gadolinium-enhanced MRI may lead to better outcome following surgery. This technique will provide the opportunity to better determine the natural course of this disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Chromosomes, Human, Pair 22
  • Female
  • Genetic Linkage / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neurofibromatosis 2 / diagnosis*
  • Neurofibromatosis 2 / genetics
  • Neuroma, Acoustic / diagnosis*
  • Neuroma, Acoustic / genetics
  • Pedigree
  • Risk Factors