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丹迪-沃克综合征：文献综述更新

Dandy-Walker syndrome: an updated literature review.

作者信息

Ocampo-Navia Maria Isabel, Perez-Mendez Wilfran, Rodriguez-Alvarez Maria Paula, Chadid-Contreras Juan, Vergara Manuel Francisco

机构信息

Department of Neurosurgery, Pontificia Universidad Javeriana, Bogotá, Colombia.

Department of Neurosurgery, Hospital Universitario San Ignacio, Bogotá, Colombia.

出版信息

Childs Nerv Syst. 2025 May 30;41(1):194. doi: 10.1007/s00381-025-06842-0.

DOI:10.1007/s00381-025-06842-0
PMID:40445443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12125060/
Abstract

The Dandy-Walker syndrome (DWS) encompasses a group of anatomical midline cerebellar disorders with potential shared embryological origins, including the classic Dandy-Walker malformation, Blake's pouch cyst, and mega cisterna magna. Genetic factors, chromosomal abnormalities, and environmental influences contribute to its etiology. DWS, occurring in 1 in 25,000 to 35,000 live births, often presents with hydrocephalus and other central nervous system anomalies. Clinical manifestations vary, with symptoms appearing from neonatal to adult stages. Diagnosis is performed through neuroimaging, evaluating the posterior fossa and associated anomalies. Management involves treating hydrocephalus, addressing associated anomalies, and providing neurological follow-up with a multidisciplinary team. Prognosis hinges on associated malformations and their severity, impacting long-term outcomes. An unsystematic updated review on the embryology, pathophysiology, diagnostic approach, and therapeutic management of DWS is presented.

摘要

丹迪-沃克综合征（DWS）包括一组具有潜在共同胚胎学起源的解剖学中线小脑疾病，包括经典的丹迪-沃克畸形、布莱克囊囊肿和巨大枕大池。遗传因素、染色体异常和环境影响均对其病因有影响。DWS在每25000至35000例活产中出现1例，常伴有脑积水和其他中枢神经系统异常。临床表现各异，症状可出现在新生儿期至成人期。通过神经影像学检查评估后颅窝及相关异常进行诊断。治疗包括治疗脑积水、处理相关异常，并由多学科团队进行神经学随访。预后取决于相关畸形及其严重程度，影响长期结局。本文对DWS的胚胎学、病理生理学、诊断方法和治疗管理进行了非系统的更新综述。

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本文引用的文献

1
Not Dandy Walker variant: a review of prominent retrocerebellar CSF space in children.非 Dandy-Walker 变异型：儿童后脑颅 CSF 空间扩大的研究综述。
Clin Radiol. 2024 May;79(5):330-337. doi: 10.1016/j.crad.2024.01.025. Epub 2024 Feb 3.
2
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.细化 Dandy-Walker 表型的神经影像学定义。
AJNR Am J Neuroradiol. 2022 Oct;43(10):1488-1493. doi: 10.3174/ajnr.A7659. Epub 2022 Sep 22.
3
Congenital Malformations of Cerebellum.小脑先天性畸形。
Clin Perinatol. 2022 Sep;49(3):603-621. doi: 10.1016/j.clp.2022.04.003. Epub 2022 Aug 20.
4
Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.Dandy-Walker 畸形及变异：28 例患儿的临床特征及相关畸形——单回顾性研究及文献复习。
Acta Neurol Belg. 2023 Jun;123(3):903-909. doi: 10.1007/s13760-022-02059-z. Epub 2022 Sep 6.
5
Evaluation of Posterior Fossa Biometric Measurements on Fetal MRI in the Evaluation of Dandy-Walker Continuum.胎儿磁共振成像在后脑池 Dandy-Walker 连续体评估中的后颅窝生物测量评估。
AJNR Am J Neuroradiol. 2021 Sep;42(9):1716-1721. doi: 10.3174/ajnr.A7215. Epub 2021 Jul 15.
6
Treatment strategies for hydrocephalus related to Dandy-Walker syndrome: evaluating procedure selection and success within the Hydrocephalus Clinical Research Network.与丹迪-沃克综合征相关的脑积水的治疗策略：在脑积水临床研究网络内评估手术选择和成功率
J Neurosurg Pediatr. 2021 Apr 30;28(1):93-101. doi: 10.3171/2020.11.PEDS20806. Print 2021 Jul 1.
7
Dandy-Walker Malformation.丹迪-沃克畸形
Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7.
8
Endoscopic third ventriculostomy in children with third ventricular pressure gradient and open ventricular outlets on MRI.对MRI显示存在第三脑室压力梯度且脑室出口开放的儿童进行内镜下第三脑室造瘘术。
Childs Nerv Syst. 2019 Dec;35(12):2319-2326. doi: 10.1007/s00381-019-04383-x. Epub 2019 Oct 25.
9
Dandy-Walker Malformation-Like Condition Revealed by Refractory Schizophrenia: A Case Report and Literature Review.Dandy-Walker 畸形样改变伴发难治性精神分裂症：病例报告及文献复习。
Neuropsychobiology. 2019;77(2):59-66. doi: 10.1159/000494695. Epub 2018 Nov 16.
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Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.