Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2.
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.
Pastores
G M
GM
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
Michels
V V
VV
Jack
C R
CR
D000328:Adult; D002648:Child; D002892:Chromosomes, Human, Pair 22; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000235:genetics; D009464:Neuroma, Acoustic / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012307:Risk Factors