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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.

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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