软骨发育不全伴脑积水5例诊治分析并文献复习

目的 总结软骨发育不全(ACH)合并脑积水患儿的诊治经验.方法 回顾性分析经基因检测确诊的5例ACH合并脑积水的临床资料,并结合相关文献进行分析.结果 1例外院接受脑室-腹腔分流术治疗脑积水,术后随访3年,脑积水未进展,未出现分流相关并发症.另外4例均采用随访观察,随访时间2～12年,其中2例单纯合并脑积水病人的脑室大...

Diagnosis and treatment of achondroplasia patients associated with hydrocephalus(report of 5 cases and literature review)

Objective To summarize the experience in the diagnosis and treatment of achondroplasia(ACH)patients associated with hydrocephalus.Methods The clinical data of 5 ACH patients associated with hydrocephalus were analyzed retrospectively.The relative literatures were reviewed.Results One patient received ventriculoperitoneal shunt for hydrocephalus in other hospital,and the follow-up(3 years)outcomes showed no progress of hydrocephalus and no shunt-related complications.The other 4 patients only received follow-up(2~12 years),and the follow-up outcomes showed that 2 patients only associated with hydrocephalus had stable ventricles and no clinical manifestations related to the hydrocephalus;1 patient associated with hydrocephalus and foramen magnum stenosis had stable ventricles and spontaneous improvement of foramen magnum stenosis and cervical spinal cord compression;1 patient associated with hydrocephalus,abnormal spinal cord signal and spinal deformity had no new clinical symptoms.Conclusions ACH children often have hydrocephalus,which may be spontaneously stable or even improved.A good clinical outcome may be obtained after a period of follow-up.