Oueslati Hela, Jouini Riadh
University Tunis El Manar Medical school, Tunisia; Department of pediatric surgery A, Children's Hospital Bechir Hamza, Tunisia.
University Tunis El Manar Medical school, Tunisia; Department of pediatric surgery A, Children's Hospital Bechir Hamza, Tunisia.
Int J Surg Case Rep. 2025 Jan;126:110705. doi: 10.1016/j.ijscr.2024.110705. Epub 2024 Dec 1.
Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly where a defect in the diaphragm allows abdominal organs to migrate into the thoracic cavity, impairing lung function. While typically identified in neonates, delayed presentations, though uncommon, can complicate diagnosis and treatment. Early detection is vital to prevent severe complications such as organ strangulation or perforation.
We present the case of a 9-year-old boy with a history of fetal hypotrophy and unexplained poor weight gain, presenting with severe abdominal pain, vomiting, and respiratory distress. Imaging revealed a large left diaphragmatic defect with gastric volvulus and perforation. Emergency surgery confirmed herniation of the stomach and transverse colon, with extensive gastric necrosis. The procedure involved repositioning organs, repairing the diaphragm, and removing necrotic tissue. Postoperative complications included bilateral pleural effusion and septic shock, requiring intensive care. The patient recovered well after stabilization and a gradual return to enteral feeding. At the nine-month follow-up, he demonstrated healthy weight gain and was symptom-free.
Delayed CDH presentation, though rare, demands clinical vigilance, particularly in children with unexplained gastrointestinal or respiratory symptoms. Life-threatening complications such as gastric volvulus and perforation necessitate prompt diagnosis and surgical intervention. Postoperative management of complications like pleural effusion and sepsis is crucial for recovery.
This case highlights the importance of recognizing atypical CDH presentations. Early diagnosis and appropriate intervention are key to preventing severe outcomes and ensuring favorable recovery and long-term quality of life.
先天性膈疝(CDH)是一种罕见的发育异常疾病,膈肌出现缺损,致使腹部器官移入胸腔,从而损害肺功能。虽然该病通常在新生儿期被发现,但延迟发病的情况虽不常见,却会使诊断和治疗变得复杂。早期检测对于预防诸如器官绞窄或穿孔等严重并发症至关重要。
我们报告一例9岁男孩,有胎儿发育迟缓及不明原因体重增加缓慢的病史,现出现严重腹痛、呕吐和呼吸窘迫症状。影像学检查显示左侧膈肌有一个大的缺损,伴有胃扭转和穿孔。急诊手术证实胃和横结肠疝入胸腔,且胃广泛坏死。手术包括重新安置器官、修复膈肌以及切除坏死组织。术后并发症包括双侧胸腔积液和感染性休克,需要重症监护。患者在病情稳定并逐渐恢复肠内喂养后恢复良好。在九个月的随访中,他体重增长正常,且无症状。
延迟出现的CDH病例虽罕见,但需要临床保持警惕性,尤其是对于有不明原因胃肠道或呼吸道症状的儿童。诸如胃扭转和穿孔等危及生命的并发症需要及时诊断和手术干预。对胸腔积液和败血症等并发症的术后管理对于康复至关重要。
本病例突出了认识非典型CDH表现的重要性。早期诊断和适当干预是预防严重后果、确保良好康复及长期生活质量的关键。