腹腔内器官通过先天发育不全的膈肌缺损处进入胸腔即形成先天性膈疝(congenital diaphragmatic hernia,CDH)。约5%~30%的CDH在新生儿期后出现,称为迟发型膈疝[1-3]。巨大膈疝因疝入胸腔的胃内有大量的胃液潴留,可以形成液平面,疝入的腹腔脏器压迫肺及纵隔、气管及心脏向健侧移位,其影像学表现与气胸、液气胸极为相似,易造成误诊[4]。患儿常以呼吸、消化系统症状为首发表现。2013年5月我院收治1例迟发型先天性巨大膈疝,经过及时诊断和治疗,患儿康复出院,现结合文献报道如下。1临床资料患儿女,1岁2月,因突发呼吸困难伴发绀半天,于2013年5月17日收住入院。患儿于入院前1周受凉后出现咳嗽,无咳痰、喘息及呼吸困难,入院前当日晨起后突然呕吐,呕吐物为胃内容物,继而出现呼吸困难,伴面色发绀,口唇青紫。 Intraperitoneal organs through the congenital hypoplastic diaphragm defect into the chest to form a congenital diaphragmatic hernia (CDH). About 5% to 30% of CDH in the neonatal period, known as delayed type diaphragmatic hernia [1-3]. Huge diaphragmatic hernia due to hernia into the stomach of the stomach a large number of gastric juice retention, can form a liquid level, hernia into the abdominal organs oppression lung and mediastinum, the trachea and the heart to the contralateral shift, the imaging findings and pneumothorax, Similar, easy to cause misdiagnosis [4]. Children often breathing, digestive symptoms as the first performance. In May 2013, 1 case of late-onset congenital massive diaphragmatic hernia was admitted to our hospital. After timely diagnosis and treatment, the children were discharged from hospital. 1 Clinical data Children, 1-year-old in February, due to sudden dyspnea with cyanosis half a day, admitted to hospital on May 17, 2013. Children with cough, no expectoration, wheezing and dyspnea 1 week before admission, suddenly vomit on the morning before admission, vomit for the stomach contents, followed by dyspnea, accompanied by cyanosis, lips bruising.