J Surg Case Rep. 2019 Dec 12;2019(12):rjz318. doi: 10.1093/jscr/rjz318. eCollection 2019 Dec. https://www.ncbi.nlm.nih.gov/pubmed/31850144
Familial sliding hiatus hernia in four siblings with uncommon features: a case series report.
Kakaje A1, Al Khoury F2, Alfarroukh A2, Khouri L2.
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Abstract
This case report shows a very rare case series of one family with four children who had severe congenital sliding hiatus hernia (HH) with uncommon presentations, and they had one parent with sliding hernia and the other with reflux symptoms. It is rarely described in the literature a direct link to a familial type that might refer to a common genetic factor. Hiatus hernia is protrusion of abdominal viscera through the oesophagus opening in the diaphragm into the thoracic cavity with sliding hernia being the most common. It can be either asymptomatic or accompanied by a variety of symptoms. We present a case series of one family in which four siblings had congenital sliding diaphragmatic hernia with atypical symptoms and gastro-oesophageal reflux disease (GORD). It is a rare case that suggests a common factor that can cause such a common disease. All four had uncommon presentations which all required surgical repair. Few cases reported on the medical literature, and they were discussed and compared with our case. However, we need further studies in families that might have this phenomenon.
Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2019.PMID: 31850144 PMCID: PMC6908544 DOI: 10.1093/jscr/rjz318Free PMC Article
