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产前超声扫描在无脑叶全前脑畸形早期检测中的作用：病例报告

The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.

作者信息

Mohamed Mariam E, Ahmed Shymaa R, Elsayed Ahmed Elsayed M, Ibrahim Eman H

机构信息

Clinical Sciences, College of Medicine, Gulf Medical University, Ajman, ARE.

Radiology, Thumbay Hospital, Fujairah, ARE.

出版信息

Cureus. 2024 Oct 4;16(10):e70843. doi: 10.7759/cureus.70843. eCollection 2024 Oct.

DOI:10.7759/cureus.70843
PMID:39493208
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11531783/
Abstract

Holoprosencephaly (HPE) is a developmental defect that affects the brain structure due to failure or incomplete division of the prosencephalon at the third week to the fourth week of gestation into cerebral hemispheres. Although the exact cause of HPE remains unclear, it is suspected to result from a combination of genetic and environmental factors. We report a case of alobar HPE. This case was diagnosed on antenatal ultrasonography in a 42-year-old female (Gravida 3, Para 2) with an unremarkable family history and absence of any risk factors. The association of alobar HPE with an atrioventricular canal defect, left-sided clubfoot, and omphalocele, in this case, constitutes a rare fetal morphological presentation. This case highlights the crucial role of regular antenatal ultrasound scans in the early detection of fatal anomalies like alobar HPE.

摘要

前脑无裂畸形（HPE）是一种发育缺陷，由于在妊娠第三周和第四周时前脑未能或未完全分裂成脑半球而影响脑结构。虽然HPE的确切病因尚不清楚，但怀疑是遗传和环境因素共同作用的结果。我们报告一例叶状全前脑畸形病例。该病例是在一名42岁女性（孕3产2）的产前超声检查中诊断出来的，其家族史无异常且不存在任何风险因素。在该病例中，叶状全前脑畸形与房室管缺损、左侧马蹄内翻足和脐膨出相关，构成了一种罕见的胎儿形态表现。该病例凸显了定期产前超声扫描在早期发现像叶状全前脑畸形这样的致命异常中的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/ae8e82aff436/cureus-0016-00000070843-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/aaaf44903379/cureus-0016-00000070843-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/b503c5223b13/cureus-0016-00000070843-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/4a8ada1b6338/cureus-0016-00000070843-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/e90570ccd9d9/cureus-0016-00000070843-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/ae8e82aff436/cureus-0016-00000070843-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/aaaf44903379/cureus-0016-00000070843-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/b503c5223b13/cureus-0016-00000070843-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/4a8ada1b6338/cureus-0016-00000070843-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/e90570ccd9d9/cureus-0016-00000070843-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/11531783/ae8e82aff436/cureus-0016-00000070843-i05.jpg

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本文引用的文献

1
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.全前脑畸形：胚胎学、临床表型、病因及管理综述
Children (Basel). 2023 Mar 30;10(4):647. doi: 10.3390/children10040647.
2
Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation: A Case Report.早发性宫内生长受限病例中无脑叶全前脑、筛骨脑畸形和肾积水综合征的产前超声诊断：一例报告
Cureus. 2022 Jul 27;14(7):e27375. doi: 10.7759/cureus.27375. eCollection 2022 Jul.
3
Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania.
一名新生儿患无脑叶全前脑畸形并伴有鼻眼发育不全：来自坦桑尼亚北部的罕见病例报告。
Int J Surg Case Rep. 2022 Apr;93:106960. doi: 10.1016/j.ijscr.2022.106960. Epub 2022 Mar 28.
4
Antenatal diagnosis of alobar holoprosencephaly.无脑叶全前脑畸形的产前诊断。
Case Rep Radiol. 2014;2014:724671. doi: 10.1155/2014/724671. Epub 2014 Jul 14.
5
Holoprosencephaly: two case reports.全前脑畸形：两例病例报告。
Maedica (Bucur). 2012 Jan;7(1):58-62.
6
A preterm infant with semilobar holoprosencephaly and hydrocephalus: a case report.一名患有半侧叶全前脑畸形和脑积水的早产儿：病例报告。
Cases J. 2010 Jan 22;3:35. doi: 10.1186/1757-1626-3-35.
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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.国际出生缺陷监测系统信息交换所中全前脑畸形的发生率：探寻人群差异。
Birth Defects Res A Clin Mol Teratol. 2008 Aug;82(8):585-91. doi: 10.1002/bdra.20479.
8
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).面部预示大脑：正中面部异常对全前脑畸形（无脑回畸形）的诊断意义。
Pediatrics. 1964 Aug;34:256-63.
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Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases.前脑无裂畸形中的脑与面部：30例病例的产前和产后描述
Ultrasound Obstet Gynecol. 2002 Jan;19(1):24-38. doi: 10.1046/j.0960-7692.2001.00154.x.
10
Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study.加利福尼亚州细胞遗传学正常的前脑无裂畸形的风险因素：一项基于人群的病例对照研究。
Am J Med Genet. 2000 Feb 14;90(4):320-5.