Neurosurg Focus. 2019 Oct 1;47(4):E18. doi: 10.3171/2019.8.FOCUS19437.
Multiple-site neural tube defects (MNTDs) are very uncommon, with the predominant number of cases being reported in developing countries. The classic theory of neural tube closure fails to explain the occurrence of these defects. Multisite closure theory, first proposed in 1995, explains most of the occurrences with a few modifications specific to a few defects. In this paper, the authors endeavor to explain all the defects, along with their genetic and embryological bases, and to review the available literature and discuss their own experience in the management of these complex cases.
The authors retrospectively reviewed the data of all the patients treated surgically for MNTDs over that past 14 years. All possible demographic data, clinical details, and radiological imaging data were reviewed. In addition, surgical parameters, complications, and status at follow-up of more than 12 months were evaluated. All previously reported cases of MNTD were analyzed, and comparisons with the present series were made.
A total of 3 major series (including the present one) on MNTDs have been from India. A total of 57 such cases (including those of the present series) have been reported in the available literature. While previous series reported a higher incidence of spinal defects, the present series had a higher rate of cephalic defects (55%). Among the reported cases, insertion of a ventriculoperitoneal shunt was necessary in 12 (26%), and only 4 patients were operated on in 2 stages. Neurological status at presentation dictated outcome.
MNTDs are extremely rare, and their embryogenesis is different from that of single neural tube defects. Simultaneous repair of 2 or even 3 defects is possible in a single-stage surgery. The requirement of a shunt is uncommon, and complications following surgery are rare. Folic acid supplementation may reduce the incidence of defects.
多处神经管缺陷（MNTD）非常罕见，大多数病例报告发生在发展中国家。经典的神经管闭合理论无法解释这些缺陷的发生。1995 年首次提出的多部位闭合理论，通过一些特定于少数缺陷的修改，解释了大部分情况。本文作者试图解释所有的缺陷，以及它们的遗传和胚胎基础，并回顾现有的文献，讨论他们在这些复杂病例管理方面的经验。
作者回顾了过去 14 年中接受手术治疗 MNTD 的所有患者的数据。回顾了所有可能的人口统计学数据、临床详细信息和放射影像学数据。此外，评估了手术参数、并发症和 12 个月以上的随访情况。分析了所有先前报道的 MNTD 病例，并与本系列进行了比较。
共有 3 个主要系列（包括本系列）来自印度。在现有的文献中，总共报告了 57 例这种病例（包括本系列中的病例）。虽然之前的系列报告了更高的脊柱缺陷发生率，但本系列的头部缺陷发生率更高（55%）。在报告的病例中，12 例（26%）需要插入脑室-腹腔分流管，只有 4 例患者分两期手术。发病时的神经状态决定了结果。
MNTD 非常罕见，其胚胎发生不同于单一的神经管缺陷。在一期手术中可以同时修复 2 个甚至 3 个缺陷。分流管的需求并不常见，手术后的并发症也很少。叶酸补充可能会降低缺陷的发生率。
