Department of Pediatric Surgery, Yeouido St. Mary's Hospital, The Catholic University of Korea, 10 63-ro, Yeongdeungpo-gu, Seoul 150-713, Korea.
Yonsei Med J. 2013 Sep;54(5):1143-8. doi: 10.3349/ymj.2013.54.5.1143.
Late-presenting congenital diaphragmatic hernia (CDH) beyond the neonatal period is rare and often misdiagnosed, with delayed treatment.
We retrospectively reviewed our experience with late-presenting CDH over 30 years at a single institution to determine the characteristics of late-presenting CDH for early diagnosis.
Seven patients had operations due to late-presenting CHD in our institution over 30 years. The patients' ages ranged from 2.5 months to 16 years. There were six boys and one girl. Five hernias were left-sided, one was right-sided and one was a retrosternal hernia. All patients had normal intestinal rotation. Non-specific gastrointestinal or respiratory symptoms and signs were usually presented. Intestinal malrotations were absent; therefore, only organs adjacent to the defect or relatively movable organs such as the small bowel and transverse colon were herniated. Two cases were accompanied by stomach herniation with the volvulus and liver, respectively. The duration from presentation to diagnosis varied from 5 days to 1 year. Diagnoses were made by chest X-ray, upper gastrointestinal series and chest computed tomography. All patients underwent primary repair with interrupted non-absorbable sutures by a transabdominal approach. None had postoperative complications. The follow-up period in six patients ranged from 4 months to 20 years (median 3.8 years). There was no recurrence in any of the patients on follow-up.
A high index of suspicion is important for the diagnosis of late-presenting CDH because it can be a life-threatening condition such as CDH with a gastric volvulus. Early diagnosis and appropriate treatment can lead to a good prognosis.
新生儿期后出现的迟发性先天性膈疝（CDH）较为罕见，常被误诊，导致治疗延误。
我们回顾了 30 年来单中心迟发性 CDH 的经验，以确定早期诊断迟发性 CDH 的特征。
30 年来，我院共有 7 例患儿因迟发性 CHD 行手术治疗。患儿年龄 2.5 个月至 16 岁，男 6 例，女 1 例。左侧膈疝 5 例，右侧膈疝 1 例，胸骨后膈疝 1 例。所有患儿肠旋转均正常。通常表现为非特异性胃肠道或呼吸道症状和体征。无肠旋转不良，因此仅邻近缺损的器官或相对可移动的器官，如小肠和横结肠疝入。2 例分别伴有胃疝入和肝疝入。从发病到确诊的时间为 5 天至 1 年。诊断依据为胸部 X 线、上消化道造影和胸部 CT。所有患儿均经腹行间断不可吸收缝线一期修补。无术后并发症。6 例患儿的随访时间为 4 个月至 20 年（中位数 3.8 年）。随访期间无患儿复发。
迟发性 CDH 可危及生命，如伴有胃扭转的 CDH，因此对其诊断应保持高度警惕。早期诊断和适当的治疗可获得良好的预后。
