Pascual-Castroviejo I
Servicio de Neurologia, Hospital Infantil La Paz, Madrid.
Rev Neurol. 1996 Sep;24(133):1051-5.
The clinical, radiological and genetic peculiarities of neurofibromatosis type 1 (NF1) or the von Recklinghausen disease are shown. The most common complications of this syndrome are presented. These are optic pathways gliomas and some other tumors of the nervous system and of any other location in the body; oseous alterations with skoliosis, pseudoarthrosis and facial dysplasias as the most important; aqueductal stenosis that frequently appears at the puberty or at adult life; an intellectual level lower than their brothers and sisters without NF1, and some less frequent complications such as endocrinological disorders and corpus callosum agenesis.
展现了1型神经纤维瘤病(NF1)或冯·雷克林豪森病的临床、放射学及遗传学特征。介绍了该综合征最常见的并发症。这些并发症包括视路胶质瘤及神经系统和身体其他任何部位的一些其他肿瘤;以脊柱侧凸、假关节和面部发育异常最为重要的骨改变;常在青春期或成年期出现的导水管狭窄;智力水平低于无NF1的兄弟姐妹,以及一些较罕见的并发症,如内分泌紊乱和胼胝体发育不全。