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脊髓脊膜膨出(脊柱裂)的病理生理学和临床表现

Authors
David G McLone, MD, PhD
Robin M Bowman, MD
Section Editors
Marc C Patterson, MD, FRACP
Leonard E Weisman, MD
Deputy Editor
Carrie Armsby, MD, MPH
Translators
李其一, 副主任医师，副教授

引言

神经管缺陷(neural tube defect, NTD)是第二常见的先天性异常，并且是导致70,000-100,000美国人出现慢性残疾的病因。脊髓脊膜膨出(脊柱裂)是最常见的NTD。

脊髓脊膜膨出的特征为脊柱存在裂隙，且伴有相应的皮肤缺陷，以至于脊膜和脊髓暴露。由于神经组织暴露，其也被称为开放性椎管闭合不全或开放性脊柱裂。相比之下，隐性椎管闭合不全的特征为脊柱存在裂隙，不伴相应的上皮缺陷，且神经组织未暴露。隐性椎管闭合不全有许多不同的类型，可为无症状的脊椎异常，也可为脊髓和相关结构存在有临床意义的缺陷。隐性椎管闭合不全将单独讨论。 (参见“Closed spinal dysraphism: Pathogenesis and types”)

本文将总结脊髓脊膜膨出的胚胎学和病理生理学。脊髓脊膜膨出婴儿的治疗、产前筛检诊断以及NTD的预防将单独讨论。 (参见“脊髓脊膜膨出(脊柱裂)的治疗概述”和“神经管缺陷的产前筛查和诊断”和“神经管缺陷的超声诊断”和“叶酸预防神经管畸形”)

神经管的胚胎学

初级神经胚形成 — 中枢神经系统(central nervous system, CNS)最初以外胚层板(称为神经板)增厚的形式而出现，发生于胚胎期第3周的开始[1]。神经板的侧缘隆起形成神经褶[2]。随后神经褶进一步隆起，相互靠近，并且融合形成神经管(图 1)[3]。融合开始于颈部区域并向头端和尾端方向延伸(图 2)。

颅神经孔在受孕后第25日闭合。胚胎尾端的融合延迟，导致尾端神经孔在神经管的管腔(神经管腔)和羊膜腔之间形成开放式交通。正常情况下，尾端神经孔的闭合大约发生于颅神经孔闭合2日后。这一过程称为初级神经胚形成，它形成了所有的功能性CNS，该系统延伸至胚胎的骶椎中段水平[4]。

                 

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Literature review current through: 2017-07 . | This topic last updated: 2016-04-08.
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