Giant Congenital Hiatal Hernia in a Child – A Rarity

ABSTRACT

Congenital paraesophageal hernia is a rare condition in the pediatric population, with giant hiatal hernia (HH) being even more uncommon. We report a case of a 3-year-old male who presented with epigastric pain after meals, recurrent respiratory symptoms, early satiety, and a history of pneumonia. Imaging studies, including a chest X-ray, upper gastrointestinal (UGI) contrast study, and contrast-enhanced computed tomography thorax, confirmed a sliding HH. The laparoscopic evaluation revealed 80% of the stomach herniating into the thoracic cavity through lax esophageal hiatus contained in a sac. The patient underwent UGI endoscopy and laparoscopic reduction of contents, sac excision, diaphragmatic crural repair, and Thal’s anterior fundoplication. Postoperative recovery was uneventful, with the patient remaining asymptomatic on follow-up. Congenital paraesophageal hernias are believed to arise from embryologic abnormalities and often present with atypical symptoms, such as respiratory distress, making early diagnosis challenging. The etiology can be confirmed only after ruling out all the acquired causes of HH. Surgical intervention is the preferred treatment, particularly in cases of giant HH, to prevent complications such as volvulus and obstruction. Adhering to key surgical principles – including complete hernia reduction, crural repair, and an appropriate antireflux procedure – ensures optimal outcomes. This case highlights the rarity of congenital giant HH in children and its unusual presentation with predominant respiratory symptoms. Laparoscopic repair, following established surgical principles, proved to be an effective and minimally invasive approach, leading to a successful outcome.

INTRODUCTION

Hiatal hernia (HH) is the herniation of abdominal organs through the diaphragmatic hiatus. HH is classified by type as follows: type I indicates sliding hernia; Type II, paraesophageal hernia (5%); Type III, mixed sliding and paraesophageal hernia; and Type IV, herniation of additional organs (e.g., colon, omentum, and spleen).[1] Sliding hernia is the most common type (90%–95%), it is an intrathoracic herniation of the gastroesophageal junction. A giant HH is a hernia that includes at least 30% of the stomach in the chest, although a uniform definition does not exist. Congenital paraesophageal hernia is relatively rare in the pediatric age group.[2] We are going to present a case of congenital giant HH who was managed with laparoscopic surgery.

CASE REPORT

A 3-year-old male child was brought to our outpatient department with complaints of epigastric pain after large meal for 6 months. There were episodes of cough, noisy breathing, and chest retractions at least 1–2 times every month since birth. It was associated with intermittent fever spikes and a history of early satiety. There is no history of vomiting or regurgitation of feeds. There was a history of admission thrice in the past with complaints of pneumonia for which he was managed conservatively. The patient was a born full-term fifth-order singleton via normal vaginal delivery and had no adverse perinatal events. With differential diagnosis of congenital diaphragmatic hernia, eventration of diaphragm, gastroesophageal reflux disorder, and congenital pulmonary airway malformations; the child was evaluated and an initial plain chest radiograph showed the gastric fundus bubble in the right hemithorax [Figure 1a]. A subsequent upper gastrointestinal (UGI) contrast study showed gastroesophageal junction, gastric fundus, and part of the body of the stomach appears to be migrated above the diaphragm into the right hemi thorax, suggestive of sliding hiatus hernia with no obvious evidence of gastric volvulus [Figure 1b]. Contrast-enhanced computed tomography thorax was done which showed gastroesophageal junction, gastric fundus, and part of the body of the stomach appearing to be migrated above the diaphragm into the right hemithorax suggesting sliding hiatus hernia [Figure 1c]. The patient was planned for UGI endoscopy and laparoscopy and proceeded. During upper GI endoscopy, it was noted that the endoscope could not be negotiated beyond 30 cm of the esophagus, there was evidence of esophagitis in the lower esophagus and the anterior wall had a bulge from external compression [Figure 2a]. On proceeding with laparoscopy, four ports were made, one 5 mm umbilical port for the camera and three working ports of 5 mm each in the right, and left lumbar region and epigastrium. It was noted that ~80% of the stomach was seen herniating through esophageal hiatus into the thorax and was contained within a sac [Figure 2b]. After reduction of contents inside peritoneal cavity, the esophageal hiatus was noted to be lax and like a thin sac. Laparoscopic excision of the sac was done with the use of harmonic forceps followed by diaphragmatic crural repair and Thals anterior fundoplication was done by using prolene 3-0 [Figure 2c and d]. The postoperative course of the patient was uneventful. An X-ray was done on postoperative day 1 which showed normal diaphragmatic contour and bilateral normal lung fields [Figure 1d]. Gradual oral intake was started on postoperative day 4. By postoperative day 6, the child had attained full oral diet with good tolerance to both solids and liquids and was discharged in stable condition. The patient was kept under regular follow-up. The first follow-up was in 2 weeks and the child was symptom free.

Figure 1.

(a) Plain x-ray showing gastric bubble in right hemi thorax marked with yellow arrow. (b) Upper gastrointestinal contrast study showing gastric bubble in right hemi thorax marked using yellow arrow with gastroesophageal junction migrated into thorax marked by blue arrow suggesting hiatal hernia. (c) contrast-enhanced computed tomography thorax and abdomen showing gastric bubble in right thorax marked by yellow arrow. (d) Postoperative x-ray showing normal diaphragmatic contour

Figure 2.

(a) Upper gastrointestinal endoscopy showing collapse of esophageal lumen due to external compression on anterior wall of esophagus marked by green arrow. (b) Intraoperative image showing lax hiatus (marked using yellow arrow) with stomach as content (marked using blue arrow). (c) Intraoperative image showing sac marked by white arrow. (d) Intraoperative image showing diaphragmatic crural repair marked by black arrow and esophagus marked by red arrow

DISCUSSION

Paraesophageal hernias are rare in infants and children, with most reported cases being acquired as a complication of Nissen fundoplication for gastroesophageal reflux.[3] Acquired paraesophageal hernia is most commonly seen in infants under 1 year of age, neurologically impaired children, and those in whom crural repair was not performed during fundoplication. However, congenital paraesophageal hernia is relatively rare in the pediatric population, occurring mostly sporadically.[2,4] It is most commonly observed in adults over 40 years old and carries a risk of complications, including incarceration, mucosal ulceration, necrosis, and perforation. The incidence of paraesophageal hernia varies from 3.5% to 5% of all operated hiatus hernias.[2] Paraesophageal hernias in childhood are believed to result from a congenital abnormality with an embryologic basis. During human diaphragm development, two small coelomic spaces, known as pneumoenteric recesses, form on either side of the midline in the mediastinum. As the pleuroperitoneal canals fuse, the larger recess becomes isolated as the infracardiac bursa. The left recess is temporary, while the persistence of the right recess creates a flattened, elongated, mesothelial-lined space within the esophageal hiatus. This persistent space, approximately 1 cm long at birth, is thought to be a congenital predisposition for paraesophageal hernia development and may become obliterated in adulthood. A similar serous sac has been identified within the porcine esophageal hiatus, positioned to the right and ventral to the esophagus.[5]

Patients with a giant HH typically present with symptoms such as pain, heartburn, or a history of heartburn, dysphagia, vomiting, and anemia. However, the incidence of incarceration and strangulation remains low. The diagnostic evaluation should include a barium esophagogram and an upper endoscopy to measure the distance from the gastroesophageal junction to the crural impression (hernia size) and to assess the mucosa thoroughly. Surgery is recommended for most patients with a giant HH unless contraindicated by significant comorbidities, with symptoms being the primary indication for intervention. While the potential risk of incarceration and strangulation is often cited as a reason for surgery, most patients report symptoms when carefully questioned.

The principles of surgical repair of giant HH to be followed are:

1. Hernia repair – complete reduction of the hernia, sac excision, and tension-free crural repair

2. Esophageal length assessment – intraoperative evaluation and the use of esophageal lengthening procedures when necessary

3. GERD management – incorporating an antireflux procedure.

The best clinical outcomes have been observed in open and laparoscopic surgical series that adhere to these principles.[6]

In our case, we are presenting a 3-year-old male child with congenital giant HH. All the acquired causes have been ruled out. He presented with symptoms of recurrent upper respiratory tract infection and early satiety which is a rare presentation. The usual presentation included upper gastrointestinal symptoms. Every investigation was suggestive of HH and intraoperatively we have a noted 80% of stomach in the thorax suggesting giant HH. The incidence of congenital HH is very low with only a very few cases reported in literature. We have done UGI endoscopy and laparoscopic reduction of contents and excision of the sac with crural repair with Thals anterior fundoplication. We have done Thals fundoplication in place of Nissens fundoplication to decrease the chances of gas bloat syndrome.

CONCLUSION

Although giant HHs are more commonly seen in adults, they can also rarely occur in the pediatric population. We present this unique case for its rarity and unusual clinical presentation in a child. Such cases can be managed by employing minimal access surgery while adhering to the established principles of HH repair to reduce morbidity.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.