罕见的胎儿神经管缺损1例Iniencephaly Clausus。

IF 0.8 Q4 PEDIATRICS AJP Reports Pub Date : 2024-12-26 eCollection Date: 2024-07-01 DOI:10.1055/a-2496-2417
Bantayehu Nega Arega, Sintayehu Debas Endalew, Daniel Miskir Hailu
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引用次数: 0

摘要

无脑畸形是一种极为罕见的神经管缺损,其特征是颈椎和颈胸椎融合。这种情况导致急性头部后屈,颈部短,颈椎明显前凸,面部上仰。这种情况通常导致胎儿预后不良,许多病例以死产或新生儿死亡告终。病例总结在此,我们报告一例在分娩时超声诊断为无脑儿的34岁孕妇,由于早产,胎膜早破和分娩,从健康中心转到初级医院。胎儿在分娩前几分钟死亡。结论颅内畸形是一种罕见但危险的疾病,对产前诊断和治疗提出了重大挑战。这个病例强调了早期和准确的成像在检测这些严重异常中的重要性,这可以为临床决策和咨询提供必要的信息。
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A Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.

Introduction  Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death. Case summary  Here, we present a case of iniencephaly diagnosed during intrapartum ultrasound in a 34-year-old gravida 5 woman referred from a health center to a primary hospital due to preterm premature rupture of membrane and labor. The fetus died intrapartum a few minutes before delivery. Conclusion  Iniencephaly remains a rare but critical condition that poses significant challenges for prenatal diagnosis and management. This case underscores the importance of early and accurate imaging in the detection of such severe anomalies, which can provide essential information for clinical decision-making and counseling.

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来源期刊
AJP Reports
AJP Reports PEDIATRICS-
CiteScore
2.20
自引率
0.00%
发文量
30
审稿时长
12 weeks
期刊最新文献
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