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两例全颅脊柱裂:磁共振成像在印度背景下神经管缺陷诊断中的作用及叶酸强化的意义综述

Two Cases of Craniospinal Rachischisis Totalis: Role of Magnetic Resonance Imaging in Diagnosis and Review of Neural Tube Defects in the Indian Context with Implications for Folate Fortification.

作者信息

Jaganmohan Deepasree, Subramaniam Prema, Krishnan Nagarajan, Mahajan Preetam

机构信息

Department of Radio-Diagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Department of Community Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.

出版信息

J Pediatr Neurosci. 2017 Jan-Mar;12(1):32-35. doi: 10.4103/1817-1745.205632.

DOI:10.4103/1817-1745.205632
PMID:28553376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5437784/
Abstract

Craniospinal rachischisis is a rare and severe form of neural tube defects (NTDs), which is always fatal. It is characterized by anencephaly accompanied by a bony defect of the spine and exposure of neural tissue. We describe the two patients with ultrasonographic and magnetic resonance imaging appearance of craniospinal rachischisis totalis, detected antenatally at 22 and 25 weeks of gestation, and confirmed after termination of pregnancy. The multifactorial etiology of NTDs, with specific reference to folate deficiency, is discussed with possible role of folate fortification in the Indian context.

摘要

颅脊柱裂是神经管缺陷(NTDs)的一种罕见且严重的形式,通常是致命的。其特征为无脑畸形伴有脊柱骨缺损和神经组织暴露。我们描述了两名患有完全性颅脊柱裂的患者,在妊娠22周和25周时通过超声和磁共振成像在产前检测到,并在终止妊娠后得到证实。本文讨论了NTDs的多因素病因,特别提到了叶酸缺乏,并探讨了在印度背景下叶酸强化的可能作用。

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本文引用的文献

1
Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.印度神经管缺陷和口腔颌面裂的出生患病率:一项系统评价和荟萃分析。
PLoS One. 2015 Mar 13;10(3):e0118961. doi: 10.1371/journal.pone.0118961. eCollection 2015.
2
Rachischisis totalis without acrania in a newborn male.一名新生男婴患完全性脊柱裂且无脑畸形。
Pediatr Neurol. 2014 Jul;51(1):123-5. doi: 10.1016/j.pediatrneurol.2014.02.019. Epub 2014 Mar 4.
3
Effect of maternal Tp53 gene G412C polymorphism on neural tube defects: A study from North India.
母亲Tp53基因G412C多态性对神经管缺陷的影响:来自印度北部的一项研究。
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Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India.印度东部胱硫醚β合酶基因突变852Ins68作为神经管缺陷可能风险的患病率
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Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India.印度孕妇的一碳代谢、亚甲基四氢叶酸还原酶(MTHFR)和钴胺素转运蛋白2(TCN2)基因分型与神经管缺陷
Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):848-56. doi: 10.1002/bdra.20841. Epub 2011 Jul 18.
8
Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects.5,10-亚甲基四氢叶酸还原酶基因多态性对神经管缺陷的影响。
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Magnetic resonance imaging versus ultrasonography for the in utero evaluation of central nervous system anomalies.磁共振成像与超声检查在胎儿中枢神经系统异常宫内评估中的应用比较
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