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坎特雷尔五联症:一种罕见且具有挑战性的产前诊断。

The pentalogy of Cantrell: A rare and challenging prenatal diagnosis.

作者信息

Mraihi Fathi, Basly Jihene, Mezni Amani, Ghali Zeineb, Hafsi Montasar, Chelli Dalenda

机构信息

D Department at the Maternity and Neonatology Center of Tunis, Tunis, Tunisia.

D Department at the Maternity and Neonatology Center of Tunis, Tunis, Tunisia.

出版信息

Int J Surg Case Rep. 2023 Nov;112:108941. doi: 10.1016/j.ijscr.2023.108941. Epub 2023 Oct 10.

Abstract

INTRODUCTION

The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases.

PRESENTATION OF CASE

In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases.

DISCUSSION

Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life.

CONCLUSIONS

Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons.

摘要

引言

胸骨、心包、膈肌、腹壁和心脏都会受到一种名为坎特雷尔五联症的罕见先天性疾病的影响。这是一种罕见的先天性疾病,需要多学科护理。早期诊断和适当管理对于改善患者的预后至关重要。为了说明坎特雷尔五联症的困难和复杂性,我们提供了两个病例。

病例介绍

在病例1中,一名29岁女性在妊娠12周时进行的常规产前扫描显示胸腹型心脏异位。由于异常严重且预后不良,该妊娠通过药物终止。病例2中的一名32岁患者患有膈疝、胸腹型心脏异位和中线腹壁异常。经过咨询后,选择了药物流产。这2例的超声特征均经尸检结果证实。

讨论

如果存在心脏异位和脐膨出,在孕早期进行早期诊断是可行的。此外,超声技术的发展为我们提供了更好的可视化和早期诊断。对于患有完全型坎特雷尔综合征以及伴有其他异常的患者,预后通常较差,生存期短且生活质量低。

结论

坎特雷尔五联症是一种相当罕见的先天性疾病。在孕早期可以进行早期检测。病情严重程度差异很大,治疗取决于具体存在的异常情况。早期诊断需要超声检查人员接受充分的初始培训以及持续的在职培训。早期检测和治疗对于改善患者的预后至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d9d/10667751/54d928e37595/gr1.jpg

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