多发神经纤维瘤病(neurofibromatosis,NF)是人类神经系统最常见遗传性疾病中的一种。自100年前由VonRecklinghausen首先描述以来,NF一直被认为是一种临床经过,既影响外周又影响中枢神经系统。直到本世纪80年代后期,应用分子遗传学的工具证实NF有两种不同的临床经过和遗传学特征 Neurofibromatosis (NF) is one of the most common hereditary diseases in the human nervous system. Since it was first described by Von Recklinghausen 100 years ago, NF has been considered as a clinical process that affects both the periphery and the central nervous system. Until the late 1980s, the use of molecular genetic tools confirmed that NF has two different clinical and genetic characteristics