Radiol Case Rep

. 2022 Mar 3;17(5):1478-1482. doi: 10.1016/j.radcr.2022.01.084. eCollection 2022 May. https://pubmed.ncbi.nlm.nih.gov/35265244/

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

Bryan C McDowell ¹, Kelly K Horst ¹, Denise B Klinkner ²Affiliations expand

• PMID: 35265244
• PMCID: PMC8899133
• DOI: 10.1016/j.radcr.2022.01.084

Free PMC article

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.

Keywords: Congenital diaphragmatic hernia; Congenital paraesophageal hernia; Cornelia de Lange syndrome; Gastric hernia without volvulus; Neonatal gastric outlet obstruction; Type IV hiatal hernia.

© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.