Raucci Umberto, Boni Alessandra, Foligno Silvia, Valfrè Laura, Bagolan Piero, Schingo Paolo S, Della Vecchia Nicoletta, Reale Antonino, Villani Alberto, Musolino Annamaria
Department of Pediatric Emergency, Bambino Gesù Children's Hospital, Rome, Italy -
Department of Pediatrics, Sapienza University, Rome, Italy.
Minerva Pediatr (Torino). 2025 Jun;77(3):205-212. doi: 10.23736/S2724-5276.21.06329-1. Epub 2021 Jun 21.
Late-presenting congenital diaphragmatic hernia (L-CDH) diagnosis is a challenge for its clinical various presentation. In literature radiologic misdiagnosis is up to 62%. The aim of this study was to analyze clinical findings about our cases series in a particular setting of Pediatric Emergency Department (PED) and review of literature.
We retrospectively analyzed the medical records of children older than 1 month, operated for L-CDH from November 2009 to December 2019 presented to PED, with a total of 20 children (5 Morgagni and 15 Bochdaleck).
The median age at diagnosis was 1.48 years. Fifty per cent of the patients had a history of previous symptoms with a mean duration of 243.75 days. In 30% of cases associated anomalies were presented, mainly cardiovascular. Twenty-five per cent of patients had undergone to chest X-ray in past history with misdiagnosis of pneumonia, microganulia and broncovascular thickening. Misdiagnosis are mainly among left sided Bochdaleck hernia. Respiratory distress alone or associated with vomiting is the commonest acute symptom referred to PED. Respiratory symptoms were more common in younger children, while gastrointestinal ones in older children (not statistically differences P=0.8769). Postoperative recurrences were frequent only in cases of right sided CDH and comparing with left ones, there is a difference statistically significant (P=0.0476).
L-CDH should be suspected in cases of unexplained acute respiratory distress and vomiting, particularly when children are affected to associate cardiovascular malformation. In cases of patients with long previous symptoms and various accesses to PED is important to emphasize history of respiratory distress, dysphagia and failure to thrive and should be considered a chest X-ray.
迟发性先天性膈疝（L-CDH）的诊断因其临床表现多样而具有挑战性。文献报道其放射学误诊率高达62%。本研究旨在分析我们在儿科急诊科（PED）特定环境下的病例系列的临床发现并进行文献复习。
我们回顾性分析了2009年11月至2019年12月期间在PED就诊并接受L-CDH手术的1个月以上儿童的病历，共有20例儿童（5例Morgagni疝和15例Bochdaleck疝）。
诊断时的中位年龄为1.48岁。50%的患者有既往症状史，平均持续时间为243.75天。30%的病例出现相关畸形，主要是心血管畸形。25%的患者既往曾接受胸部X线检查，误诊为肺炎、肺纹理增粗和支气管血管增粗。误诊主要发生在左侧Bochdaleck疝。单独的呼吸窘迫或伴有呕吐是转诊至PED最常见的急性症状。呼吸症状在年幼儿童中更常见，而胃肠道症状在年长儿童中更常见（无统计学差异，P = 0.8769）。术后复发仅在右侧CDH病例中常见，与左侧相比，有统计学显著差异（P = 0.0476）。
对于不明原因的急性呼吸窘迫和呕吐病例，应怀疑L-CDH，特别是当儿童伴有心血管畸形时。对于有长期既往症状且多次就诊于PED的患者，强调呼吸窘迫、吞咽困难和生长发育迟缓的病史很重要，并应考虑进行胸部X线检查。
