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一名儿童出现多个神经管缺陷:一种罕见的发育异常。

Multiple neural tube defects in a child: A rare developmental anomaly.

作者信息

Singh Neha, Singh Deepak Kumar, Aga Pallavi, Singh Ragini

机构信息

Department of Radiodiagnosis, Chhatrapati Sahuji Maharaj Medical University (CSMMU), Lucknow, Uttar Pradesh, India.

出版信息

Surg Neurol Int. 2012;3:147. doi: 10.4103/2152-7806.104741. Epub 2012 Dec 14.

DOI:10.4103/2152-7806.104741
PMID:23372964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3551503/
Abstract

BACKGROUND

The presence of multiple neural tube defects (NTDs) is a rare entity. Published literature shows not more than 10 case reports. Such cases contradict the well-established "zipper model" of neural tube closure and support "multi-site closure model."

CASE DESCRIPTION

We are reporting a unique case of multiple NTDs in a 5-month-o ld female child. Occipital encephalocele, dorsal meningomyelocele, Split cord malformation (SCM), and tethered cord were present in this case.

CONCLUSION

This case report further substantiate the "multisite closure model," however, more research work on human neuro-embryology is needed to overcome the controversies of neural tube closure.

摘要

背景

多发性神经管缺陷(NTDs)的存在是一种罕见情况。已发表的文献显示病例报告不超过10例。此类病例与公认的神经管闭合“拉链模型”相矛盾,并支持“多部位闭合模型”。

病例描述

我们报告了一名5个月大女童患有多发性NTDs的独特病例。该病例存在枕部脑膨出、背部脊膜脊髓膨出、脊髓纵裂畸形(SCM)和脊髓栓系。

结论

本病例报告进一步证实了“多部位闭合模型”,然而,需要更多关于人类神经胚胎学的研究工作来克服神经管闭合的争议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/f8d042e29c5a/SNI-3-147-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/fbab3b23909f/SNI-3-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/6186b13bdad3/SNI-3-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/3d9bf4c36526/SNI-3-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/f8d042e29c5a/SNI-3-147-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/fbab3b23909f/SNI-3-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/6186b13bdad3/SNI-3-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/3d9bf4c36526/SNI-3-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/066c/3551503/f8d042e29c5a/SNI-3-147-g004.jpg

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2
Multiple-site neural tube defects complicated by multiple-site split cord malformations and thickened filum terminale: experience at a pediatric neurosurgical teaching hospital in Ethiopia. Illustrative case.多部位神经管缺陷合并多部位脊髓纵裂畸形和终丝增厚:埃塞俄比亚一家儿科神经外科教学医院的经验。病例说明。
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Multiple neural tube defects: a clinical series of seven cases and their embryological basis.多发性神经管缺陷:7例临床病例系列及其胚胎学基础
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Evidence for multi-site closure of the neural tube in humans.人类神经管多部位闭合的证据。
Am J Med Genet. 1993 Oct 1;47(5):723-43. doi: 10.1002/ajmg.1320470528.
Multiple neural tube defects: a rare combination of limited dorsal myeloschisis, diplomyelia with dorsal bony spur, sacral meningocoele, syringohydromyelia, and tethered cord.
多发性神经管缺陷:一种罕见的组合,包括局限性脊髓背侧裂、伴有背侧骨棘的脊髓纵裂、骶部脊膜膨出、脊髓空洞症和脊髓栓系。
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