Pastores G M, Michels V V, Jack C R
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
Am J Med Genet. 1991 Dec 1;41(3):325-9. doi: 10.1002/ajmg.1320410313.
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.
我们报告了一个对有患神经纤维瘤病2型(NF 2)风险的个体使用钆增强磁共振成像(MRI)进行研究的家庭。这项技术已使我们在两名无症状儿童(7岁和11岁)中诊断出小型(小于8毫米)听神经瘤,其中一名儿童的听力测定和脑干诱发反应测试结果正常。据我们所知,这是已确诊为NF 2的最年轻的无症状患者。听神经瘤可能比之前认为的更常见于早年发病。使用钆增强MRI早期诊断听神经瘤可能会使手术后获得更好的结果。这项技术将为更好地确定这种疾病的自然病程提供机会。