[1]徐　金　王杭州　陈　民　韩　勇.软骨发育不全伴脑积水5例诊治分析并文献复习[J].中国临床神经外科杂志,2021,26(04):233-236.[doi:10.13798/j.issn.1009-153X.2021.04.004]
　XU Jin,WANG Hang-zhou,CHEN Min,et al.Diagnosis and treatment of achondroplasia patients associated with hydrocephalus (report of 5 cases and literature review)[J].,2021,26(04):233-236.[doi:10.13798/j.issn.1009-153X.2021.04.004]
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软骨发育不全伴脑积水5例诊治分析并文献复习()

《中国临床神经外科杂志》[ISSN:1009-153X/CN:42-1603/TN]

卷:
26
期数:
2021年04期
页码:
233-236
栏目:
论著
出版日期:
2021-04-25

文章信息/Info

Title:
Diagnosis and treatment of achondroplasia patients associated with hydrocephalus (report of 5 cases and literature review)
文章编号:
1009-153X（2021）04-0233-04
作者:
徐　金　王杭州　陈　民　韩　勇
215000 江苏苏州，苏州大学附属儿童医院神经外科（徐　金、王杭州、陈　民、韩　勇）
Author(s):
XU Jin;  WANG Hang-zhou;  CHEN Min;  HAN Yong.
Department of Neurosurgery, Children’s Hospital of Soochow University, Suzhou 215000, China
关键词:
软骨发育不全; 脑积水; 侏儒畸形; 脑室-腹腔分流术
Keywords:
Achondroplasia;  Hydrocephalus;  Gnome deformity;  Ventriculoperitoneal shunt
分类号:
R 742.7
DOI:
10.13798/j.issn.1009-153X.2021.04.004
文献标志码:
A
摘要:
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小稳定，无脑积水相关临床表现；1例脑积水合并枕骨大孔狭窄病人的脑室大小稳定，枕骨大孔狭窄及颈髓受压自发改善；1例脑积水合并脊髓信号异常及脊柱畸形，未出现新发临床症状。结论 ACH患儿往往合并脑积水，但脑积水有自发趋于稳定甚至改善的可能，一段时间的随访观察可能会获得较好的临床预后。
Abstract:
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.

参考文献/References:

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备注/Memo

备注/Memo:
通讯作者：韩　勇，E-mail: 974715506@qq.com
更新日期/Last Update: 2021-04-25