Evaluation of clinical diagnostic criteria for neurofibromatosis 2

摘要: Background: Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups expert clinicians, but sensitivity has never formally assessed. The differ people without bilateral vestibular schwannomas, which are pathognomonic NF2. Objective: To empirically evaluate the four existing Methods: study was based on 163 403 in United Kingdom NF2 registry (41%) who presented schwannomas. authors applied to each person at initial assessment and most recent evaluation (mean ± SE length follow-up, 13 1 years). Results: In with “definite NF2” a negative family history NF2, 1987 US NIH 1991 identify 78% 0% assessment. National Neurofibromatosis Foundation (NNFF) Manchester higher proportions both time points (NNFF criteria, 91% 10%; 93% 14%), still low. Conclusions: None adequate diagnosing present schwannomas as having particularly recommend that single, revised set be devised replace all criteria.