Horwich A, Riccardi V M, Francke U
Am J Med Genet. 1983 Mar;14(3):577-81. doi: 10.1002/ajmg.1320140322.
Two brothers and an unrelated male with neurofibromatosis (NF) developed hydrocephalus in childhood. Aqueductal stenosis (AS) was demonstrated by ventriculography and required shunt operation. Genetic counselors had to decide whether to invoke an X-linked gene for AS or whether AS could be caused by the NF mutation. Reports of 13 patients of both sexes with AS and NF suggest that AS with resulting hydrocephalus may be a rare manifestation of the NF gene. AS should be looked for in young NF patients with signs of hydrocephalus or with neurologic abnormalities.
两名患有神经纤维瘤病（NF）的兄弟和一名与之无关的男性在儿童时期出现了脑积水。脑室造影显示为导水管狭窄（AS），需要进行分流手术。遗传咨询师必须决定是引入一个与X连锁的AS基因，还是AS可能由NF突变引起。13例患有AS和NF的男女患者的报告表明，AS伴发脑积水可能是NF基因的一种罕见表现。对于有脑积水迹象或神经系统异常的年轻NF患者，应检查是否存在AS。
