Lobaton Gilberto O, Chen Y Julia, Jelin Eric, Garcia Alejandro V
Department of Pediatric Surgery, Johns Hopkins University School of Medicine, Baltimore MD, USA.
J Surg Case Rep. 2021 Jan 31;2021(1):rjaa604. doi: 10.1093/jscr/rjaa604. eCollection 2021 Jan.
Congenital diaphragmatic hernias rarely present after 2 months of age and are typically diagnosed in the perinatal period. Moderate to severe diaphragmatic hernias present with respiratory symptoms, while late-onset hernias have a more varied presentation, depending on the age and content of the hernia. Very rarely, such hernias are found on incidental imaging, in which surgical repair is frequently recommended. A young girl with Loeys-Dietz syndrome and prior abdominal surgeries presents with 1-year history of increasingly severe, intermittent, abdominal and left shoulder pain. Prior imaging incidentally revealed a left diaphragmatic hernia with omentum protruding into the thoracic cavity. This was managed expectantly due to her other medical and surgical issues. Serial imaging revealed that the herniated omentum was increasing in size and symptoms began to develop. An uncomplicated primary thoracoscopic repair was performed. We report the first case of a congenital diaphragmatic hernia in a patient with Loeys-Dietz syndrome.
先天性膈疝在2个月龄后很少出现，通常在围产期被诊断出来。中度至重度膈疝表现为呼吸道症状，而迟发性膈疝的表现则更为多样，这取决于疝的年龄和内容物。非常罕见的是，此类疝在偶然的影像学检查中被发现，此时通常建议进行手术修复。一名患有洛伊斯-迪茨综合征且曾接受过腹部手术的年轻女孩，出现了1年日益严重的间歇性腹痛和左肩疼痛病史。之前的影像学检查偶然发现左侧膈疝，大网膜突入胸腔。由于她的其他内科和外科问题，对此采取了观察等待的处理方式。系列影像学检查显示，疝出的大网膜尺寸在增大，症状开始出现。遂进行了一次无并发症的原发性胸腔镜修复手术。我们报告了首例洛伊斯-迪茨综合征患者发生先天性膈疝的病例。
