Department of Clinical Medicine, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
Paediatric Neurosurgery, Sydney Children's Hospital Randwick, Sydney, Australia.
Adv Tech Stand Neurosurg. 2023;47:129-143. doi: 10.1007/978-3-031-34981-2_5.
Junctional neurulation completes the sequential embryological processes of primary and secondary neurulation as the intermediary step linking the end of primary neurulation and the beginning of secondary neurulation. Its exact molecular process is a matter of ongoing scientific debate. Abnormality of junctional neurulation-junctional neural tube defect (JNTD)-was first described in 2017 based on a series of three patients who displayed a well-formed secondary neural tube, the conus, that is physically separated by a fair distance from its companion primary neural tube and functionally disconnected from rostral corticospinal control. Several other cases conforming to this bizarre neural tube arrangement have since appeared in the literature, reinforcing the validity of this entity. The clinical, neuroimaging, and electrophysiological features of JNTD, as well as the hypothesis of its embryogenetic mechanism, will be described in this chapter.
连接性神经胚形成完成了初级神经胚形成和次级神经胚形成的连续胚胎发生过程，是连接初级神经胚形成结束和次级神经胚形成开始的中间步骤。其确切的分子过程是一个正在进行的科学争论的问题。连接性神经胚形成-连接性神经管缺陷（JNTD）-是在 2017 年根据一系列三个患者的描述首次发现的，这些患者表现出一个形态良好的次级神经管，圆锥，它与相邻的初级神经管在物理上被隔开相当远的距离，并与颅端皮质脊髓控制功能上断开。此后，文献中出现了几个符合这种奇异神经管排列的其他病例，这加强了该实体的有效性。本章将描述 JNTD 的临床、神经影像学和电生理学特征，以及其胚胎发生机制的假说。
