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意外诊断:一例偶然发现的先天性膈疝病例。

Unexpected diagnosis: a case of incidental congenital diaphragmatic hernia.

作者信息

Saenz Daniela, Cóbar Juan P, Argueta Victor H, Caravantes Ricardo A

机构信息

Department of Medical Research, Universidad Francisco Marroquín, 6ta calle final zona 10, Universidad Francisco Marroquin, Guatemala City, 01010, Guatemala.

出版信息

Oxf Med Case Reports. 2025 Mar 20;2025(3):omae193. doi: 10.1093/omcr/omae193. eCollection 2025 Mar.

DOI:10.1093/omcr/omae193
PMID:40124693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11924401/
Abstract

Congenital diaphragmatic hernias (CHD) are rare anomalies resulting from the failure of the diaphragm to form. Bochdalek hernias are characterized by posterolateral displacement of abdominal organs into the chest. The condition's clinical presentation is variable and commonly presents with acute respiratory distress after birth. Timely recognition and management are crucial due to the associated morbidity and mortality rates. In the present case, a diaphragmatic hernia was discovered incidentally in a 1-year-old patient following an appendectomy. This case highlights the diverse clinical presentations and diagnostic challenges of Bochdalek hernias, reinforcing the importance of interdisciplinary collaboration for effective patient care.

摘要

先天性膈疝(CHD)是由于膈肌形成失败导致的罕见畸形。Bochdalek疝的特征是腹部器官向后外侧移位至胸腔。该疾病的临床表现多样,通常在出生后出现急性呼吸窘迫。由于相关的发病率和死亡率,及时识别和处理至关重要。在本病例中,一名1岁患儿在阑尾切除术后偶然发现患有膈疝。该病例突出了Bochdalek疝多样的临床表现和诊断挑战,强化了跨学科合作对有效治疗患者的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/4fdfda52fa30/omae193f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/2df7ff93b57d/omae193f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/cfedc25b0534/omae193f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/4fdfda52fa30/omae193f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/2df7ff93b57d/omae193f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/cfedc25b0534/omae193f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/33cc/11924401/4fdfda52fa30/omae193f3.jpg

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本文引用的文献

1
Bochdalek Hernia With Gastric Necrosis Requiring Roux-en-Y Esophagojejunostomy.Bochdalek 疝伴胃坏死需行 Roux-en-Y 食管空肠吻合术。
Ann Thorac Surg. 2022 Jun;113(6):e449-e451. doi: 10.1016/j.athoracsur.2021.08.046. Epub 2021 Sep 25.
2
Monitoring diaphragm function in the ICU.监测 ICU 中的膈肌功能。
Curr Opin Crit Care. 2020 Feb;26(1):18-25. doi: 10.1097/MCC.0000000000000682.
3
Update on Congenital Diaphragmatic Hernia.先天性膈疝更新。
Anesth Analg. 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324.
4
Emergency Management of Acute Late-Presenting Congenital Diaphragmatic Hernia in Infants and Children.婴儿和儿童急性迟发性先天性膈疝的急救管理。
Pediatr Emerg Care. 2021 Jul 1;37(7):357-359. doi: 10.1097/PEC.0000000000001860.
5
Congenital Diaphragmatic Hernia: Management & Outcomes.先天性膈疝:管理与结局
Adv Pediatr. 2018 Aug;65(1):241-247. doi: 10.1016/j.yapd.2018.05.001. Epub 2018 Jun 12.
6
Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland.先天性膈疝伴心脏缺损发生左心发育不良综合征和重大心脏外畸形的风险较高:来自芬兰的 10 年全国队列研究。
Acta Obstet Gynecol Scand. 2018 Feb;97(2):204-211. doi: 10.1111/aogs.13274. Epub 2017 Dec 27.
7
Patch repair for congenital diaphragmatic hernia: is it really a problem?先天性膈疝的补丁修复:这真的是个问题吗?
J Pediatr Surg. 2012 Apr;47(4):637-41. doi: 10.1016/j.jpedsurg.2011.11.054.
8
The split abdominal wall muscle flap repair for large congenital diaphragmatic hernias on extracorporeal membrane oxygenation.体外膜肺氧合支持下的劈开腹壁肌瓣修补术治疗大型先天性膈疝
J Pediatr Surg. 2007 Jun;42(6):1047-50; discussion 1051. doi: 10.1016/j.jpedsurg.2007.01.041.
9
Molecular genetics of congenital diaphragmatic defects.先天性膈缺陷的分子遗传学
Ann Med. 2007;39(4):261-74. doi: 10.1080/07853890701326883.
10
Diaphragm development and congenital diaphragmatic hernia.膈肌发育与先天性膈疝
Semin Pediatr Surg. 2007 May;16(2):94-100. doi: 10.1053/j.sempedsurg.2007.01.004.