Hiatal hernias are classified into two types: a sliding hiatal hernia and a paraesophageal hernia. Paraesophageal hernias constitute about 3.5–5% of all hiatal hernias with a female preponderance (M:F 1:4) [2]. Paraesophageal hernias in the pediatric age group are divided into congenital and acquired and irrespective of the type whether congenital or acquired they are relatively rare. The vast majority of paraesophageal hernias are, however, acquired commonly seen following Nissen's fundoplication for the treatment of gastroesophageal reflux [1]. By definition, paraesophageal hernia occurs when the stomach protrudes laterally through the esophageal hiatus toward the chest while the gastroesophageal junction remains in its normal anatomic position. This, however, is not the case in the pediatric age group where in most of cases the whole stomach herniates into the thoracic cavity with the gastroesophageal junction lying in the chest [4, 6, 12]. These may represent a combined type of sliding and paraesophageal hernias, or in the pediatric age group, congenital paraesophageal hernia is distinct and different from its adult counterpart. Another distinguishing feature of pediatric paraesophageal hernia is that it is not uncommon for other intra-abdominal organs to herniate into the chest through the hiatal opening. Congenital paraesophageal hernia must also be differentiated from purely intrathoracic stomach, an entity that is known to be associated with a short esophagus [13–15]. In all our patients and once the content of the hernia sac reduced, they were found to have a normal esophagus. One of the largest series of paraesophageal hernia in children was that reported by Karpelowsky et al. from the Red Cross War Memorial Children's Hospital in South Africa [4]. They reported 59 children treated over a 42-year period. These children usually present with recurrent chest infection or vague gastrointestinal symptoms. Awareness of this is important as congenital paraesophageal hernias are known to be associated with potentially lethal complications like gastric volvolus with partial or complete gastric obstruction, strangulation, and perforation [16, 17]. Two of our patients presented with paraesophageal hernia and intrathoracic gastric volvolus. It is also of importance to note that large congenital paraesophageal hernia can present at or soon after birth with respiratory distress that can be confused with the more common congenital posterolateral diaphragmatic hernia. One of our patients presented immediately after birth with respiratory distress and was found to have a large paraesophageal hernia.

The exact etiology of congenital paraesophageal hernia is not known. It is postulated that congenital paraesophageal hernia is secondary to embryonal developmental defects in the lumbar component of the diaphragm leading to defective right crus of the diaphragm [2]. A familial occurrence of hiatal hernia was first suggested in 1939 [18]. Since then there have been several reports documenting the occurrence of hiatal hernia among siblings, and an autosomal dominant mode of inheritance was suggested [19]. This was not the case for congenital paraesophageal hernia where most of the reported cases occur sporadically. There is, however, a very limited number of reports describing familial paraesophageal hernias including three pairs of affected siblings [2]. Our two siblings represent the fourth pair to be reported with familial paraesophageal hernias. This unusual familial occurrence supports a genetic predisposition to the development of congenital paraesophageal hernia. One of our patients had esophageal atresia and tracheoesophageal fistula, and this may have subsequently contributed to the development of paraesophageal hernia.