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]
Achondroplasia complicated by hydrocephalus:A report of three cases and literature review
- Keywords:
- Achondroplasia; Hydrocephalus; Child; Surgical Procedures; Operative; Case Reports
- 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.
References:
[1] Shiang R,Thompson LM,Zhu YZ,et al.Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism,achondroplasia[J].Cell,1994,78(2):335-342.DOI:10.1016/0092-8674(94)90302-6.
[2] Legare JM.Achondroplasia//Adam MP,Feldman J,Mirzaa GM,et al.GeneReviews? .Seattle:University of Washington,2023:1993-2025.https://www.ncbi.nlm.nih.gov/books/NBK1152/.
[3] Avci E,Dagtekin A,Ozturk AH,et al.Anatomical variations of the foramen magnum,occipital condyle and jugular tubercle[J].Turk Neurosurg,2011,21(2):181-190.DOI:10.5137/1019-5149.JTN.3838-10.1.
[4] Wanebo JE,Chicoine MR.Quantitative analysis of the transcondylar approach to the foramen magnum[J].Neurosurgery,2001,49(4):934-943.DOI:10.1097/00006123-200110000-00027.
[5] 沈明,宠宁,刘培嫦,等.软骨发育不全合并脑积水一例的基因诊断及处理[J].北京医学,1999,21(5):278.DOI:10.3969/j.issn.0253-9713.1999.05.023. Shen M,Chong N,Liu PC,et al.Gene diagnosis and management of one case of achondroplasia with hydrocephalus[J].Beijing Med J,1999,21(5):278.DOI:10.3969/j.issn.0253-9713.1999.05.023.
[6] 徐金,王杭州,陈民,等.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(4):233-236.DOI:10.13798/j.issn.1009-153X.2021.04.004. Xu J,Wang HZ,Chen M,et al.Diagnosis and treatment of achondroplasia patients associated with hydrocephalus (report of 5 cases and literature review)[J].Chin J Clin Neurosurg,2021,26(4):233-236.DOI:10.13798/j.issn.1009-153X.2021.04.004.
[7] Yamashita S,Matsumoto Y,Tamiya T,et al.Disappearance of hemifacial spasm after ventriculoperitoneal shunting in a patient with achondroplasia-case report[J].Neurol Med Chir (Tokyo),2005,45(2):104-107.DOI:10.2176/nmc.45.104.
[8] Miyamoto J,Tatsuzawa K,Sasajima H,et al.Usefulness of phase contrast cine mode magnetic resonance imaging for surgical decision making in patients with hydrocephalus combined with achondroplasia.Case report[J].Neurol Med Chir (Tokyo),2010,50(12):1116-1118.DOI:10.2176/nmc.50.1116.
[9] Mukherjee D,Pressman BD,Krakow D,et al.Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia:review of an 11-year surgical case series[J].J Neurosurg Pediatr,2014,14(3):238-244.DOI:10.3171/2014.5.PEDS12614.
[10] Swift D,Nagy L,Robertson B.Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia[J].J Neurosurg Pediatr,2012,9(1):73-81.DOI:10.3171/2011.10.PEDS1169.
[11] Shoda K,Ohe N,Sasai H,et al.Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia:a case report and literature review[J].Childs Nerv Syst,2021,37(12):3907-3911.DOI:10.1007/s00381-021-05129-4.
[12] Rekate HL.Pathogenesis of hydrocephalus in achondroplastic dwarfs:a review and presentation of a case followed for 22 years[J].Childs Nerv Syst,2019,35(8):1295-1301.DOI:10.1007/s00381-019-04227-8.
[13] Etus V,Ceylan S.The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia[J].J Neurosurg,2005,103(3 Suppl):260-265.DOI:10.3171/ped.2005.103.3.0260.
[14] Kim J,Patel VJ,El Ahmadieh TY,et al.Hydrocephalus in achondroplasia:efficacy of endoscopic third ventriculostomy[J].J Neurosurg Pediatr,2022,29(3):268-275.DOI:10.3171/2021.9.PEDS21242.
[15] Akinnusotu O,Isaacs AM,Stone M,et al.Neurosurgical management of cervicomedullary compression,spinal stenosis,and hydrocephalus in pediatric achondroplasia:a systematic review[J].J Neurosurg Pediatr,2023,32(5):597-606.DOI:10.3171/2023.6.PEDS23162.
[16] Lundar T,Bakke SJ,Nornes H.Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen.Case report[J].J Neurosurg,1990,73(1):138-140.DOI:10.3171/jns.1990.73.1.0138.
[17] Steinbok P,Hall J,Flodmark O.Hydrocephalus in achondroplasia:the possible role of intracranial venous hypertension[J].J Neurosurg,1989,71(1):42-48.DOI:10.3171/jns.1989.71.1.0042.
[18] Merker A,Neumeyer L,Hertel NT,et al.Growth in achondroplasia:Development of height,weight,head circumference,and body mass index in a European cohort[J].Am J Med Genet A,2018,176(8):1723-1734.DOI:10.1002/ajmg.a.38853.
[19] Tofts L,Das S,Collins F,et al.Growth charts for Australian children with achondroplasia[J].Am J Med Genet A,2017,173(8):2189-2200.DOI:10.1002/ajmg.a.38312.
[20] Pauli RM.Achondroplasia:a comprehensive clinical review[J].Orphanet J Rare Dis,2019,14(1):1.DOI:10.1186/s13023-018-0972-6.
[21] Junaid M,Ahmed M,Rashid MU.An experience with ventriculoperitoneal shunting at keen’s point for hydrocephalus[J].Pak J Med Sci,2018,34(3):691-695.DOI:10.12669/pjms.343.14081.
[22] 中华医学会神经外科分会小儿神经外科学组.中国儿童脑积水外科治疗及并发症处理专家共识(2022)[J].中华小儿外科杂志,2023,44(10):869-873.DOI:10.3760/cma.j.cn421158-20220429-00317. Group of Pediatric Neurosurgery,Committee of Neurosurgery,Chinese Medical Association.Chinese expert consensus on surgery and complication management of hydrocephalus in children (2022)[J].Chin J Pediatr Surg,2023,44(10):869-873.DOI:10.3760/cma.j.cn421158-20220429-00317.
[23] Dandy WE.Hydrocephalus in chondrodystrophy[J].Johns Hopkins Hosp Bull,1921,32:5-10.
[24] Hashmi SS,Gamble C,Hoover-Fong J,et al.Multicenter study of mortality in achondroplasia[J].Am J Med Genet A,2018,176(11):2359-2364.DOI:10.1002/ajmg.a.40528.
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