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儿童巨大先天性食管裂孔疝——罕见病例

Giant Congenital Hiatal Hernia in a Child - A Rarity.

作者信息

Bachala Keerthana, Sinha Amit Kumar, Rashi Rashi, Kumar Amit, Kassim Nahil Najeeb, Dudhani Shreyas

机构信息

Department of Paediatric Surgery, AIIMS, Patna, Bihar, India.

出版信息

J Indian Assoc Pediatr Surg. 2025 Sep-Oct;30(5):667-670. doi: 10.4103/jiaps.jiaps_78_25. Epub 2025 Jun 30.

DOI:10.4103/jiaps.jiaps_78_25
PMID:40950612
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12425381/
Abstract

Congenital paraesophageal hernia is a rare condition in the pediatric population, with giant hiatal hernia (HH) being even more uncommon. We report a case of a 3-year-old male who presented with epigastric pain after meals, recurrent respiratory symptoms, early satiety, and a history of pneumonia. Imaging studies, including a chest X-ray, upper gastrointestinal (UGI) contrast study, and contrast-enhanced computed tomography thorax, confirmed a sliding HH. The laparoscopic evaluation revealed 80% of the stomach herniating into the thoracic cavity through lax esophageal hiatus contained in a sac. The patient underwent UGI endoscopy and laparoscopic reduction of contents, sac excision, diaphragmatic crural repair, and Thal's anterior fundoplication. Postoperative recovery was uneventful, with the patient remaining asymptomatic on follow-up. Congenital paraesophageal hernias are believed to arise from embryologic abnormalities and often present with atypical symptoms, such as respiratory distress, making early diagnosis challenging. The etiology can be confirmed only after ruling out all the acquired causes of HH. Surgical intervention is the preferred treatment, particularly in cases of giant HH, to prevent complications such as volvulus and obstruction. Adhering to key surgical principles - including complete hernia reduction, crural repair, and an appropriate antireflux procedure - ensures optimal outcomes. This case highlights the rarity of congenital giant HH in children and its unusual presentation with predominant respiratory symptoms. Laparoscopic repair, following established surgical principles, proved to be an effective and minimally invasive approach, leading to a successful outcome.

摘要

先天性食管旁疝在儿科人群中是一种罕见疾病,巨大食管裂孔疝(HH)则更为少见。我们报告一例3岁男性患儿,其餐后出现上腹部疼痛、反复呼吸道症状、早饱感,并有肺炎病史。影像学检查,包括胸部X线、上消化道(UGI)造影检查和胸部增强计算机断层扫描,证实为滑动性HH。腹腔镜评估显示80%的胃通过包含在囊袋中的松弛食管裂孔疝入胸腔。该患者接受了UGI内镜检查及腹腔镜内容物复位、囊袋切除、膈肌脚修复和塔尔氏前胃底折叠术。术后恢复顺利,随访时患者无症状。先天性食管旁疝被认为源于胚胎学异常,常表现为非典型症状,如呼吸窘迫,这使得早期诊断具有挑战性。只有在排除所有HH的后天性病因后才能确诊病因。手术干预是首选治疗方法,特别是对于巨大HH病例,以预防诸如肠扭转和梗阻等并发症。坚持关键的手术原则——包括完全疝复位、膈肌脚修复和适当的抗反流手术——可确保取得最佳效果。本病例突出了儿童先天性巨大HH的罕见性及其以主要呼吸道症状为主的不寻常表现。遵循既定手术原则的腹腔镜修复术被证明是一种有效且微创的方法,取得了成功的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/543b/12425381/a2c94a429e1b/JIAPS-30-667-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/543b/12425381/4d381741a9a1/JIAPS-30-667-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/543b/12425381/a2c94a429e1b/JIAPS-30-667-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/543b/12425381/4d381741a9a1/JIAPS-30-667-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/543b/12425381/a2c94a429e1b/JIAPS-30-667-g002.jpg

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本文引用的文献

1
Congenital hiatus hernia: A case series.先天性食管裂孔疝:病例系列
North Clin Istanb. 2018 Mar 16;6(2):171-175. doi: 10.14744/nci.2018.58672. eCollection 2019.
2
Congenital paraesophageal hernia: Contemporary results and outcomes of laparoscopic approach to repair in symptomatic infants and children.先天性食管裂孔疝:腹腔镜治疗有症状婴儿和儿童的当代结果和结局。
J Pediatr Surg. 2019 Jul;54(7):1346-1350. doi: 10.1016/j.jpedsurg.2018.07.008. Epub 2018 Jul 20.
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Approaches to the diagnosis and grading of hiatal hernia.食管裂孔疝的诊断与分级方法。
Best Pract Res Clin Gastroenterol. 2008;22(4):601-16. doi: 10.1016/j.bpg.2007.12.007.
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Primary paraesophageal hernia in children.儿童原发性食管旁疝
J Pediatr Surg. 2006 Sep;41(9):1588-93. doi: 10.1016/j.jpedsurg.2006.05.020.
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Congenital paraesophageal hiatal hernia: pitfalls in the diagnosis and treatment.先天性食管旁裂孔疝:诊断与治疗中的陷阱
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