Familial sliding hiatus hernia in four siblings with uncommon features: a case series report

Abstract

AbstractThis 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.