Department of Neurosurgery, Cairo University, Cairo, Egypt.
Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, Buffalo, New York, USA.
Br J Neurosurg. 2022 Jun;36(3):329-339. doi: 10.1080/02688697.2022.2074373. Epub 2022 May 17.
Congenital hydrocephalus affects approximately one in 1000 newborn children and is fatal in approximately 50% of untreated cases. The currently known management protocols usually necessitate multiple interventions and long-term use of healthcare resources due to a relatively high incidence of complications, and many of them mostly provide a treatment of the effect rather than the cause of cerebrospinal fluid flow reduction or outflow obstruction. Future studies discussing etiology specific hydrocephalus alternative treatments are needed. We systematically reviewed the available literature on the effect of ciliary abnormality on congenital hydrocephalus pathogenesis, to open a discussion on the feasibility of factoring ciliary abnormality in future research on hydrocephalus treatment modalities. Although there are different forms of ciliopathies, we focused in this review on primary ciliary dyskinesia. There is growing evidence of association of other ciliary syndromes and hydrocephalus, such as the reduced generation of multiple motile cilia, which is distinct from primary ciliary dyskinesia. Data for this review were identified by searching PubMed using the search terms 'hydrocephalus,' 'Kartagener syndrome,' 'primary ciliary dyskinesia,' and 'immotile cilia syndrome.' Only articles published in English and reporting human patients were included. Seven studies met our inclusion criteria, reporting 12 cases of hydrocephalus associated with primary ciliary dyskinesia. The patients had variable clinical presentations, genetic backgrounds, and ciliary defects. The ependymal water propelling cilia differ in structure and function from the mucus propelling cilia, and there is a possibility of isolated non-syndromic ependymal ciliopathy causing only hydrocephalus with growing evidence in the literature for the association ependymal ciliary abnormality and hydrocephalus. Abdominal and thoracic situs in children with hydrocephalus can be evaluated, and secondary damage of ependymal cilia causing hydrocephalus in cases with generalized ciliary abnormality can be considered.
先天性脑积水影响约每 1000 名新生儿中的 1 名，未经治疗的病例中有约 50%死亡。目前已知的管理方案通常需要多次干预和长期使用医疗保健资源，因为并发症的发生率相对较高，其中许多方案主要提供的是对脑脊液流动减少或流出阻塞的影响的治疗，而不是病因的治疗。需要未来的研究来讨论针对特定病因的脑积水替代治疗方法。我们系统地回顾了有关纤毛异常对先天性脑积水发病机制影响的现有文献，以讨论在未来的脑积水治疗方法研究中考虑纤毛异常的可行性。虽然有不同形式的纤毛病，但我们在本次综述中主要关注原发性纤毛运动障碍。越来越多的证据表明，其他纤毛病与脑积水有关，例如多种运动纤毛生成减少，这与原发性纤毛运动障碍不同。本综述的数据通过在 PubMed 上使用“hydrocephalus”（脑积水）、“Kartagener syndrome”（卡塔格内综合征）、“primary ciliary dyskinesia”（原发性纤毛运动障碍）和“immotile cilia syndrome”（不动纤毛综合征）等搜索词进行搜索来确定。仅纳入以英语发表并报告人类患者的文章。符合纳入标准的有 7 项研究，报告了 12 例与原发性纤毛运动障碍相关的脑积水病例。这些患者具有不同的临床表现、遗传背景和纤毛缺陷。室管膜水推进纤毛在结构和功能上与黏液推进纤毛不同，有可能存在孤立的非综合征性室管膜纤毛病，仅引起脑积水，并且越来越多的文献证据表明室管膜纤毛异常与脑积水有关。可以评估脑积水儿童的腹部和胸部位置，并且可以考虑全身性纤毛异常导致脑积水的情况下，室管膜纤毛的继发性损伤。
