Gu Shuo,Liu Chenyuan,Gong Liang,et al.Achondroplasia complicated by hydrocephalus:A report of three cases and literature review[J].Journal of Clinical Pediatric Surgery,2025,(04):362-367.[doi:10.3760/cma.j.cn101785-202411036-011]
软骨发育不全合并脑积水3例报告及文献综述
- Title:
- Achondroplasia complicated by hydrocephalus:A report of three cases and literature review
- Keywords:
- Achondroplasia; Hydrocephalus; Child; Surgical Procedures; Operative; Case Reports
- 摘要:
- 目的 探讨软骨发育不全(achondroplasia,ACH)合并脑积水的临床表现、诊断方法及治疗策略。方法 回顾性分析2015年5月至2019年9月海南省妇女儿童医学中心(海南省儿童医院)及上海市浦东新区浦南医院收治的3例ACH合并脑积水患儿临床资料。检索1989—2023年PubMed、万方医学网及中国知网中关于ACH合并脑积水的相关文献,分析患儿临床表现、诊断方式、治疗方案及预后情况。结果 3例患儿均为女性,平均年龄3岁,均因头围异常增大及四肢短小入院,均经靶向基因高通量测序及影像学检查确诊为ACH合并脑积水;2例采用脑室腹腔分流术,1例采用神经内窥镜下第三脑室造瘘术联合后颅窝减压术治疗;术后随访1年,患儿脑积水明显好转,未见并发症。文献检索到符合纳排标准的文献共13篇,其中中文文献2篇、英文文献11篇;报道ACH合并脑积水患儿81例,其中6例通过靶向基因高通量测序结合影像学检查确诊,75例经影像学检查确诊;81例患儿中,4例单纯随访观察,28例行脑室腹腔分流术,12例行枕骨大孔减压术,35例行第三脑室造瘘术,1例行颈静脉孔扩大减压术,4例行绕过颈静脉孔血管搭桥术;随访结果显示患儿均恢复良好,脑室大小稳定。结论 ACH合并脑积水临床主要表现为头围异常增大及四肢短小,可通过靶向基因高通量测序及影像学检查诊断。除脑室腹腔分流术以外,第三脑室底造瘘术、枕骨大孔减压术亦为可行的手术方案。
- Abstract:
- Objective To investigate the clinical manifestations,diagnostic methods,and treatment strategies for achondroplasia (ACH) complicated with hydrocephalus.Methods A retrospective analysis was conducted on the clinical data of three pediatric patients with ACH complicated by hydrocephalus,admitted to Hainan Women and Children’ s Medical Center (Hainan Children’s Hospital) and Shanghai Punan Hospital of Pudong New Area between May 2015 and September 2019.A literature search regarding ACH complicated by hydrocephalus from 1989 to 2023 was performed in PubMed,Wanfang Data,and CNKI to analyze clinical features,diagnostic methods,treatment regimens,and prognosis.Results All three patients were female,with an average age of 3 years.They presented with abnormal head circumference enlargement and short limbs.Targeted gene high-throughput sequencing and imaging confirmed the diagnosis of ACH complicated by hydrocephalus.Two patients underwent ventriculoperitoneal (VP) shunt,and one patient underwent endoscopic third ventriculostomy (ETV) combined with posterior fossa decompression.One-year postoperative follow-up showed significant improvement of hydrocephalus in all three patients,without complications.The literature search yielded 13 relevant publications that met inclusion criteria,comprising 2 Chinese and 11 English articles,reporting a total of 81 pediatric ACH cases with hydrocephalus.Among them,6 cases diagnosed by targeted gene high-throughput sequencing combined with imaging,and 75 cases were diagnosed by imaging alone.Of the 81 patients,4 were managed by observation alone,28 underwent VP shunt,12 underwent foramen magnum decompression,35 received third ventriculostomy,1 underwent jugular foramen decompression,and 4 underwent vascular bypass surgeries around the jugular foramen.Follow-up demonstrated good recovery and stable ventricular size in all cases.Conclusions The main clinical manifestations of ACH complicated by hydrocephalus are abnormally enlarged head circumference and short limbs.Diagnosis can be achieved through targeted gene high-throughput sequencing and imaging studies.In addition to VP shunt,both third ventriculostomy and foramen magnum decompression are viable surgical options.
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备注/Memo
收稿日期:2024-11-28。
基金项目:海南省重点研发计划(ZDYF2022SHFZ292)
通讯作者:顾硕,Email:gushuo007@163.com