Zhong Jiafei,Ji Xinting,Gu Shuo.Recent advances in diagnosis and treatment of syndromic hydrocephalus[J].Journal of Clinical Pediatric Surgery,,20():285-291.[doi:10.12260/lcxewkzz.2021.03.016]
Recent advances in diagnosis and treatment of syndromic hydrocephalus
- Keywords:
- Hydrocephalus/DI; Hydrocephalus/SU; Hydrocephalus/TH; Hydrocephalus/CO
- CLC:
- R726;R742.7
- Abstract:
- Congenital hydrocephalus can be classified into two clinical forms of non-syndromic and syndromic chydrocephalus.Frequently associated with other congenital anomalies,syndromic hydrocephalus is caused by gene mutation.More than 100 genes in 8 categories are correlated with syndromic hydrocephalus.This review summarized the latest literature reports.The mutated genes and the characteristics and recent advances in the treatment of all types of syndromic hydrocephalus were extensively reviewed.
References:
1 Santoro C.Genetics of Human Hydrocephalus[M].New York:Springer,Cham,2019,97-138.DOI:10.1007/978-3-319-27250-4_1.
2 Kousi M,Katsanis N.The genetic basis of hydrocephalus[J].Annu Rev Neurosci,2016,39:409-435.DOI:10.1146/annurev-neuro-070815-014023.
3 Zheng H,Yu WM,Waclaw RR,et al.Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner[J].Sci Signal,2018,11(522):eaao1591.DOI:10.1126/scisignal.aao1591.
4 Ejarque I,Millán-Salvador JM,Oltra S,et al.Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway[J].Rev Neurol,2015,60(9):408-412.DOI:10.1007/s00381-012-2000-9.
5 Roth J,Ber R,Constantini S.Neurofibromatosis type 1 related hydrocephalus:treatment options and considerations[J].World Neurosurg,2019,128:e664-e668.DOI:10.1016/j.wneu.2019.04.231.
6 Roth J,Ber R,Wisoff JH,et al.Endoscopic third ventriculostomy in patients with neurofibromatosis type 1:a multicenter international experience[J].World Neurosurg,2017,107:623-629.DOI:10.1016/j.wneu.2017.08.053.
7 Breik O,Mahindu A,Moore MH,et al.Central nervous system and cervical spine abnormalities in Apert syndrome[J].Childs Nerv Syst,2016,32(5):833-838.DOI:10.1007/s00381-016-3036-z.
8 Pauli RM.Achondroplasia:a comprehensive clinical review[J].Orphanet J Rare Dis,2019,14(1):1.DOI:10.1186/s13023-018-0972-6.
9 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.
10 Dalla Corte A,de Souza CFM,Anés M,et al.Hydrocephalus and mucopolysaccharidoses:what do we know and what do we not know?[J].Childs Nerv Syst,2017,33(7):1073-1080.DOI:10.1007/s00381-017-3476-0.
11 Aliabadi H,Reynolds R,Powers CJ,et al.Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I,Ⅱ,and Ⅲ:a retrospective analysis of 13 patients[J].Neurosurgery,2010,67(6):1476-1482.DOI:10.1227/NEU.0b013e3181f8c11d.
12 Mirzaa GM,Conway RL,Gripp KW,et al.Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes:two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis[J].Am J Med Genet A,2016,158A(2):269-291.DOI:10.1002/ajmg.a.34402.
13 Barisic I,Boban L,Loane M,et al.Meckel-Gruber syndrome:a population-based study on prevalence,prenatal diagnosis,clinical features,and survival in Europe[J].Eur J Hum Genet,2015,23(6):746-752.DOI:10.1038/ejhg.2014.174.
14 Shim JW,Territo PR,Simpson S,et al.Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation[J].Sci Rep,2019,9:1069.DOI:10.1038/s41598-018-37620-5.
15 Fehrenbach MK,Nestler U,Meixensberger J,et al.Late-onset hydrocephalus in a child with Joubert syndrome:a case report[J].Childs Nerv Syst,2018,34(7):1423-1425.DOI:10.1007/s00381-018-3767-0.
16 Avagliano L,Massa V,George TM,et al.Overview on neural tube defects:From development to physical characteristics[J].Birth Defects Res,2019,111(19):1455-1467.DOI:10.1002/bdr2.1380.
17 Committee on Obstetric Practice,Society for Maternal-Fetal Medicine.Committee Opinion No.720:Maternal-fetal surgery for myelomeningocele[J].Obstet Gynecol,2017,130(3):e164-e167.DOI:10.1097/AOG.0000000000002303.
18 Elgamal EA.Natural history of hydrocephalus in children with spinal open neural tube defect[J].Surg Neurol Int,2012,3:112.DOI:10.4103/2152-7806.101801.
19 Walsh CA,Manzini MC,Hill HE,et al.Walker Warburg Syndrome[DB/OL](2016.09.07)[2019.07.17].https://rarediseases.org/rare-diseases/walker-warburg-syndrome/.
20 Priolo M,Schanze D,Tatton-Brown K,et al.Further delineation of Malan syndrome[J].Hum Mutat,2018,39:1226-1237.DOI:10.1002/humu.23563.
21 Priolo M.Nuclear factor one X mice model for Malan syndrome:the less the better[J].EBio Medicine,2019,39:15-16.DOI:10.1016/j.ebiom.2018.11.065.
22 Lim JJ,Yoon SH.The first neurosurgical analysis of 8 Korean children with sotos syndrome[J].J Korean Neurosurg Soc,2008,44:240-244.DOI:10.3340/jkns.2008.44.4.240.
Memo
收稿日期:2019-09-24。
基金项目:海南省重点研发计划项目（编号：ZDYF2020225）
通讯作者:顾硕,Email:gushuo007@163.com