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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.

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d53/12125060/f39d624d5319/381_2025_6842_Fig1_HTML.jpg

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