综合征性脑积水。
Syndromic Hydrocephalus.
机构信息
Department of Neurosurgery, Washington University School of Medicine, Washington University in Saint Louis, 660 South Euclid Avenue, Campus Box 8057, St Louis, MO 63110, USA. Electronic address: https://twitter.com/kaamyavaragur.
Department of Neurosurgery, Washington University School of Medicine, Washington University in Saint Louis, 660 South Euclid Avenue, Campus Box 8057, St Louis, MO 63110, USA.
出版信息
Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006.
Abstract
Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-Warburg syndrome, primary ciliary dyskinesia, and osteogenesis imperfecta. Further, we discuss emerging genetic variants associated with syndromic hydrocephalus.
摘要
脑积水是一种常见的表型特征，是由多种遗传综合征引起的脑脊液异常积聚和循环/清除障碍。在这篇综述中，我们概述了 L1 综合征、颅缝早闭综合征、软骨发育不全、NF1/2、唐氏综合征、结节性硬化症、沃克-沃伯格综合征、原发性纤毛运动障碍和成骨不全等遗传综合征中与脑积水相关的基因突变、发病机制和伴随症状。此外，我们还讨论了与遗传综合征相关的新兴基因突变。
相似文献
1
Syndromic Hydrocephalus.综合征性脑积水。
Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006.
2
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.着眼于未来，攻克脑积水：睫状体运动障碍相关性脑积水综述。
Br J Neurosurg. 2022 Jun;36(3):329-339. doi: 10.1080/02688697.2022.2074373. Epub 2022 May 17.
3
Hydrocephalus and craniosynostosis.脑积水和颅缝早闭。
J Neurosurg. 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209.
4
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.临床实践中的先天性脑积水：一种基因诊断方法。
Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30.
5
Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia.乘上皮室管膜纤毛之浪：原发性纤毛运动障碍致脑积水的遗传易感性。
J Neurosci Res. 2013 Sep;91(9):1117-32. doi: 10.1002/jnr.23238. Epub 2013 May 17.
6
Craniosynostosis and hydrocephalus: relevance and treatment modalities.颅缝早闭和脑积水：相关性和治疗方式。
Childs Nerv Syst. 2021 Nov;37(11):3465-3473. doi: 10.1007/s00381-021-05158-z. Epub 2021 Apr 7.
7
THE KLEEBLATTSCHAEDE SYNDROME--A GROTESQUE FORM OF HYDROCEPHALUS.克莱布拉特施德综合征——一种奇特的脑积水形式。
J Pediatr. 1965 Jul;67:126-9. doi: 10.1016/s0022-3476(65)80314-6.
8
Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.矢状缝早闭、丹迪-沃克畸形和脑积水：一种独特的多发畸形综合征。
Am J Med Genet. 1993 Oct 1;47(5):640-3; discussion 644. doi: 10.1002/ajmg.1320470512.
9
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.编码COPII机制一个组成部分的SEC24D基因发生突变，会导致一种综合征型成骨不全。
Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
10
Cole-Carpenter syndrome in a patient from Thailand.泰国患者的 Cole-Carpenter 综合征。
Am J Med Genet A. 2018 Aug;176(8):1706-1710. doi: 10.1002/ajmg.a.40358. Epub 2018 Jul 31.
引用本文的文献
1
Navigating challenges in hydrocephalus following intraventricular hemorrhage: a comprehensive review of current evidence.脑室出血后脑积水的挑战应对：当前证据的全面综述
Front Neurol. 2025 Aug 18;16:1630286. doi: 10.3389/fneur.2025.1630286. eCollection 2025.
2
Cranial Ultrasound in the Management of Hydrocephalus in Newborns: A Case Series.新生儿脑积水管理中的头颅超声检查：病例系列
Children (Basel). 2025 Mar 27;12(4):419. doi: 10.3390/children12040419.
3
Research priorities for non-invasive therapies to improve hydrocephalus outcomes.改善脑积水治疗效果的非侵入性疗法的研究重点。
Fluids Barriers CNS. 2025 Mar 3;22(1):24. doi: 10.1186/s12987-025-00632-1.
4
Loss of Downregulates Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus.缺失下调 表达，导致皮质发育障碍和先天性脑积水。
Cells. 2024 Nov 14;13(22):1882. doi: 10.3390/cells13221882.
5
Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.先天性脑积水：遗传病因学和分子机制研究进展综述。
Mil Med Res. 2024 Aug 12;11(1):54. doi: 10.1186/s40779-024-00560-5.
6
Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.粘附分子L1第一纤连蛋白结构域发生突变的小鼠表现出脑畸形和行为异常。
Biomolecules. 2024 Apr 11;14(4):468. doi: 10.3390/biom14040468.
7
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.对先天性颅骨缺陷的细致且早期的了解可以挽救生命。
Children (Basel). 2023 Jul 18;10(7):1240. doi: 10.3390/children10071240.
8
Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome.唐氏综合征新生儿大脑的全面容积表型分析。
Cereb Cortex. 2023 Jul 5;33(14):8921-8941. doi: 10.1093/cercor/bhad171.
9
Consideration of Kinase Inhibitors for the Treatment of Hydrocephalus.考虑使用激酶抑制剂治疗脑积水。
Int J Mol Sci. 2023 Apr 3;24(7):6673. doi: 10.3390/ijms24076673.
10
Ependymal polarity defects coupled with disorganized ciliary beating drive abnormal cerebrospinal fluid flow and spine curvature in zebrafish.室管膜极性缺陷加上纤毛摆动紊乱导致斑马鱼脑脊液流动异常和脊柱弯曲。
PLoS Biol. 2023 Mar 2;21(3):e3002008. doi: 10.1371/journal.pbio.3002008. eCollection 2023 Mar.
本文引用的文献
1
Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome.唐氏综合征患儿第四脑室出口梗阻及卢什卡孔憩室扩张。
Pediatr Neurosurg. 2020;55(6):359-362. doi: 10.1159/000511088. Epub 2020 Dec 28.
2
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients.沙特患者的沃克-沃伯格综合征的神经影像学表现和遗传异质性。
Brain Dev. 2021 Mar;43(3):380-388. doi: 10.1016/j.braindev.2020.10.012. Epub 2020 Nov 13.
3
Apert syndrome: Cranial procedures and brain malformations in a series of patients.阿佩尔综合征：一系列患者的颅骨手术与脑畸形
Surg Neurol Int. 2020 Oct 29;11:361. doi: 10.25259/SNI_413_2020. eCollection 2020.
4
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.一种 X 连锁综合征，其特征为严重的神经发育迟缓、脑积水和早期死亡，由 OTUD5 基因的错义变异引起。
Clin Genet. 2021 Feb;99(2):303-308. doi: 10.1111/cge.13873. Epub 2020 Nov 9.
5
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.外显子组测序提示散发性先天性脑积水与产前神经胶质发生过程中遗传破坏有关。
Nat Med. 2020 Nov;26(11):1754-1765. doi: 10.1038/s41591-020-1090-2. Epub 2020 Oct 19.
6
Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.严重 FGFR2 相关 Pfeiffer 综合征患者的喂养、沟通、脑积水和颅内高压。
J Craniofac Surg. 2021;32(1):134-140. doi: 10.1097/SCS.0000000000007153.
7
Current trends in the management of subependymal giant cell astrocytomas in tuberous sclerosis.结节性硬化症患者室管膜下巨细胞星形细胞瘤的当前治疗趋势
Childs Nerv Syst. 2020 Oct;36(10):2527-2536. doi: 10.1007/s00381-020-04889-9. Epub 2020 Sep 25.
8
Normal Pressure Hydrocephalus in Down Syndrome: The Report of Two Cases.唐氏综合征正常压力脑积水：两例报告。
J Alzheimers Dis. 2020;77(3):979-984. doi: 10.3233/JAD-200409.
9
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.原发性纤毛运动障碍相关的MCIDAS突变中的脑积水和弥漫性脉络丛增生
Neurol Genet. 2020 Jul 13;6(4):e482. doi: 10.1212/NXG.0000000000000482. eCollection 2020 Aug.
10
Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.软骨发育不全伴颅颈交界区狭窄患儿行颈髓减压术后脑室扩大改善。
Am J Med Genet A. 2020 Aug;182(8):1896-1905. doi: 10.1002/ajmg.a.61640. Epub 2020 Jun 11.
Zotero 插件