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患有科妮莉亚·德朗热综合征的新生儿先天性食管旁疝伴胃出口梗阻。

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome.

作者信息

McDowell Bryan C, Horst Kelly K, Klinkner Denise B

机构信息

Department of Radiology, Mayo Clinic, 200 1st St. SW, Rochester, MN, 55905, USA.

Department of Pediatric Surgery, Mayo Clinic, 200 1st St. SW, Rochester, MN, 55905, USA.

出版信息

Radiol Case Rep. 2022 Mar 3;17(5):1478-1482. doi: 10.1016/j.radcr.2022.01.084. eCollection 2022 May.

DOI:10.1016/j.radcr.2022.01.084
PMID:35265244
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8899133/
Abstract

We describe a case of a newborn being treated for encephalopathy and seizures, whose radiographs since the first day of life demonstrate a persistent ovoid lucency over the central lower chest. A CT performed confirmed a type IV hiatal hernia, which is defined as a paraesophageal type hernia containing a portion of the abdominal viscera. This infant's hernia included the distal stomach, pylorus, and proximal duodenum. There was no volvulus or ischemic change at surgery. The patient underwent successful reduction, fundoplication, and gastrostomy placement with hospital discharge after further stabilization of additional medical problems. Genetic testing later confirmed Cornelia de Lange Syndrome Type V, which has been associated with gastrointestinal manifestations and congenital diaphragmatic hernias.

摘要

我们描述了一例正在接受脑病和癫痫治疗的新生儿病例,自出生第一天起的X光片显示中下胸部中央持续存在卵圆形透亮区。进行的CT检查证实为IV型食管裂孔疝,其定义为包含部分腹腔脏器的食管旁型疝。该婴儿的疝包括远端胃、幽门和近端十二指肠。手术时未发现肠扭转或缺血性改变。患者成功接受了复位、胃底折叠术和胃造口术,在其他医疗问题进一步稳定后出院。基因检测后来证实为V型科妮莉亚·德·朗格综合征,该综合征与胃肠道表现和先天性膈疝有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/ea0d9a0de1dd/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/f05cce9c3d23/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/8615275e17d0/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/5f1221c2ada1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/06d0e105b993/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/46b4bb994747/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/ea0d9a0de1dd/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/f05cce9c3d23/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/8615275e17d0/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/5f1221c2ada1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/06d0e105b993/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/46b4bb994747/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b97b/8899133/ea0d9a0de1dd/gr6.jpg

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本文引用的文献

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2
Congenital paraesophageal hernia: The Montreal experience.先天性食管旁疝:蒙特利尔的经验
J Pediatr Surg. 2015 Sep;50(9):1462-6. doi: 10.1016/j.jpedsurg.2015.01.007. Epub 2015 Jan 17.
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Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征
Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28.
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Multimodality imaging of the pediatric diaphragm: anatomy and pathologic conditions.小儿膈肌的多模态影像学:解剖与病变情况。
Radiographics. 2010 Nov;30(7):1797-817. doi: 10.1148/rg.307105046.
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Single gene disorders associated with congenital diaphragmatic hernia.与先天性膈疝相关的单基因疾病。
Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):172-83. doi: 10.1002/ajmg.c.30125.