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

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.

• Authors: G M Pastores, V V Michels, C R Jack Jr
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 41 Issue 3 Pg. 325-9 (Dec 01 1991) ISSN: 0148-7299 [Print] United States
• PMID: 1789288 (Publication Type: Case Reports, Journal Article)

Topics

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