临床小儿外科杂志2025，Vol.24Issue(4)：362-367,6.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
Achondroplasia complicated by hydrocephalus:A report of three cases and literature review
摘要
Abstract
Objective To investigate the clinical manifestations,diagnostic methods,and treatment strat-egies for achondroplasia(ACH)complicated with hydrocephalus.Methods A retrospective analysis was con-ducted 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 hydroceph-alus 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-through-put sequencing and imaging confirmed the diagnosis of ACH complicated by hydrocephalus.Two patients under-went ventriculoperitoneal(VP)shunt,and one patient underwent endoscopic third ventriculostomy(ETV)com-bined with posterior fossa decompression.One-year postoperative follow-up showed significant improvement of hy-drocephalus 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 un-derwent 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 addi-tion to VP shunt,both third ventriculostomy and foramen magnum decompression are viable surgical options.关键词
软骨发育不全/脑积水/儿童/外科手术/病例报告Key words
Achondroplasia/Hydrocephalus/Child/Surgical Procedures,Operative/Case Reports引用本文复制引用
顾硕,刘辰源,龚良,钟家斐,王剑..软骨发育不全合并脑积水3例报告及文献综述[J].临床小儿外科杂志,2025,24(4):362-367,6.基金项目
海南省重点研发计划(ZDYF2022SHFZ292) Hainan Provincial Key R&D Program(ZDYF2022SHFZ292) （ZDYF2022SHFZ292）
