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“气泡心”:一例唐氏综合征患者 Morgagni 疝延迟诊断的病例报告:疝在细节中。

"Bubbly heart," a case report of Morgagni hernia delayed diagnosis in patient with Down syndrome: The hernia is in the details.

作者信息

D'Agostino Valerio, Valente Giulia, Federico Emanuela, Mondillo Fiorentino

机构信息

"Umberto I" Hospital of Nocera Inferiore, Radiology Department, Nocera Inferiore, Italy.

Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

出版信息

Radiol Case Rep. 2025 May 23;20(8):3990-3993. doi: 10.1016/j.radcr.2025.04.108. eCollection 2025 Aug.

DOI:10.1016/j.radcr.2025.04.108
PMID:40496090
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12151155/
Abstract

Morgagni hernia represents a rare form of congenital diaphragmatic hernia (2%-5%), characterized by a defect in the anterior and retrosternal diaphragm. It can be associated with other congenital anomalies, especially in conditions like Down syndrome. Symptoms are often nonspecific, and diagnosis can be missed. Imaging plays a main role in diagnosis. We describe a case of a young boy with Down syndrome suffering from fever and shortness of breath. In the appropriate clinical scenario, it is important to consider this entity among the differential diagnoses of Down syndrome patients with respiratory disease.

摘要

莫尔加尼疝是先天性膈疝的一种罕见形式(2%-5%),其特征是胸骨后和前部膈肌存在缺损。它可能与其他先天性异常有关,尤其是在唐氏综合征等情况下。症状通常不具特异性,可能会漏诊。影像学在诊断中起主要作用。我们描述了一例患有唐氏综合征的小男孩,他伴有发热和呼吸急促。在适当的临床情况下,在患有呼吸系统疾病的唐氏综合征患者的鉴别诊断中考虑这一病症很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/23119b307f92/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/e50f9eec266f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/e8e086695f3c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/23119b307f92/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/e50f9eec266f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/e8e086695f3c/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c327/12151155/23119b307f92/gr3.jpg

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本文引用的文献

1
Congenital diaphragmatic hernia: the good, the bad, and the tough.先天性膈疝:利弊与挑战
Pediatr Surg Int. 2019 Mar;35(3):303-313. doi: 10.1007/s00383-019-04442-z. Epub 2019 Jan 24.
2
Morgagni Hernia Repair: A Review.莫尔加尼疝修补术:综述
Surg Innov. 2018 Aug;25(4):389-399. doi: 10.1177/1553350618777053. Epub 2018 May 29.
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Laparoscopic repair of Morgagni hernia by artificial pericardium patch in an adult obese patient.成年肥胖患者人工心包补片腹腔镜修补 Morgagni 疝
J Thorac Dis. 2015 Apr;7(4):754-7. doi: 10.3978/j.issn.2072-1439.2015.03.15.
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BMJ Case Rep. 2014 Jan 15;2014:bcr2013202440. doi: 10.1136/bcr-2013-202440.
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Down's syndrome as a factor in the diagnosis, management, and outcome in patients of Morgagni hernia.唐氏综合征作为摩根疝患者诊断、治疗和预后的一个因素。
J Pediatr Surg. 2011 Apr;46(4):636-639. doi: 10.1016/j.jpedsurg.2010.10.001.
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Transabdominal subcostal approach in surgical management of Morgagni hernia.经腹肋缘下入路在 Morgagni 疝手术治疗中的应用。
Eur J Cardiothorac Surg. 2011 Jun;39(6):1009-11. doi: 10.1016/j.ejcts.2010.09.031. Epub 2011 Jan 26.
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Simultaneous operation in a patient with coronary heart disease, abnormal orifice of coronary arteries, morgagni hernia, atrial septal defect, and pericardial and pleural agenesis.一名患有冠心病、冠状动脉开口异常、莫尔加尼疝、房间隔缺损以及心包和胸膜发育不全的患者的同步手术。
Heart Surg Forum. 2010 Aug;13(4):E260-2. doi: 10.1532/HSF98.20091180.
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Foramen of Morgagni hernia: presentation and treatment.Morgan 疝孔疝:表现与治疗。
Thorac Surg Clin. 2009 Nov;19(4):463-8. doi: 10.1016/j.thorsurg.2009.08.010.
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Adult Morgagni hernia: the need for clinical awareness, early diagnosis and prompt surgical intervention.成人 Morgagni 疝:临床认识、早期诊断及及时手术干预的必要性
Ann R Coll Surg Engl. 2008 Nov;90(8):694-5. doi: 10.1308/003588408X321693.