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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.

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/e50f9eec266f/gr1.jpg

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