神经纤维瘤病是由神经嵴细胞发育不良引起的广泛遗传性疾病。至少有两型各具特征的临床和遗传表现的神经纤维瘤病。Ⅰ型为常见的Von Reclinghausen′s神经纤维瘤病,它可能为严重的常染色体显性遗传性疾病。Ⅱ型为少见的中枢型,有多发颅内和椎管肿瘤,包括颅、脊神经瘤、脑膜瘤 Neurofibromatosis is a widespread genetic disease caused by dysgenesis of neural crest cells. There are at least two distinct clinical and genetic manifestations of neurofibromatosis. Type I is a common Von Reclinghausen’s neurofibromatosis, which may be a severe autosomal dominant disease. Type II is a rare central type, multiple intracranial and spinal tumors, including cranial and spinal neuromas, meningioma