Hiatal hernia is a condition where gastrointestinal contents herniate through the esophageal hiatus. It is a better-known entity in adults and can be both congenital and acquired, with the latter occurring mostly due to gastroesophageal surgery or trauma. Congenital hiatal hernia (CHH) is a rare condition (1-3). Due to its rarity, information regarding CHH has mostly been confined to case reports, with its true incidence still unknown (4,5). The presentation is usually insidious unless it presents catastrophically as an acute volvulus (6,7). The lack of awareness of this disease in the pediatric population, together with misleading clinical and radiological findings, may delay diagnosis and definitive management, leading to higher morbidity and mortality (2,3,8).

We present a case of a 4-month-old infant with recurrent respiratory and gastrointestinal symptoms, with clinical, laboratory, and radiological findings indicative of other conditions. The infant was eventually diagnosed with CHH with gastric volvulus. Written informed consent was obtained from the patient’s mother.

A 4-month-old male presented to the emergency department (ED) in respiratory distress. He had woken up crying and had 1 episode of non-bilious, non-bloody vomiting after feeding. He was febrile and breathless with noisy breathing. The initial vital signs were as follows: heart rate, 186 beats/minute; respiratory rate, 50 breaths/minute; temperature, 39.5 °C; and oxygen saturation, 96% on room air. His weight was 4 kg (< 3 percentile) with a weight gain of 11.9 g/day since his birth, despite feeding well. He was born at a gestational age of 36 6/7 weeks with a birth weight of 2.405 kg (< 3 percentile) and Apgar scores of 9 at both 0 and 5 minutes of life. Antenatal history and newborn screen were unremarkable, with no maternal risk factors for neonatal sepsis.

This was his fourth visit for similar symptoms. He first presented to an ED at 2 months of age, with a history of inconsolable crying and “bubbling sounds” coming from the stomach and vomiting post-feeding since he was 1-month-old. A presumptive diagnosis of infantile colic was made after an unremarkable abdominal radiography (Figure 1A). His second visit was also to another ED, at 3 months. He had upper respiratory tract symptoms with breathlessness and was treated for bronchiolitis in view of end-expiratory rhonchi on physical examination. Two weeks prior to the index visit, he presented to our ED with a 1-week history of cough, post-tussive vomiting, and decreased feeding. Reduced breath sounds over the right lung and bilateral rhonchi were noted on auscultation. A chest radiograph (CR) showed radiopaque lesions, which were considered a lower respiratory tract infection and atelectasis at that time (Figure 1B). He was diagnosed with right bronchopneumonia and admitted to the Department of Pediatric Medicine. His respiratory pathogens multiplex polymerase chain reaction returned positive for parainfluenza type 4. He was discharged well on day 3.

On this current ED presentation, a physical examination demonstrated moderate subcostal retractions and occasional rhonchi bilaterally. He was noted to have a scaphoid abdomen with no bowel sound noted in the thorax. He was given nebulized epinephrine with resolution of rhonchi thereafter. CR showed a 5.5 cm-sized right lower mediastinal gas-filled mass with no gastric bubble in the left upper abdomen (Figure 2A). Retrospective review of his previous radiographs showed a similar but smaller right lower mediastinal gas-filled mass, which was not reported at those visits (Figure 1). A nasogastric tube (NGT) was inserted, with a repeat CR showing the NGT within the gaseous stomach but entirely above the diaphragm and deviating to the right (Figure 2B).

The infant was admitted to the intensive care unit under the Department of Pediatric Surgery with an initial diagnosis of congenital diaphragmatic hernia (CDH) complicated by aspiration pneumonia and failure to thrive (FTT). Inpatient laboratory findings were as follows: white blood cells, 14.5 × 103/μL; hemoglobin, 11.8 g/dL; platelet, 308 × 103/μL; natrium, 138 mmol/L; kalium, 4.6 mmol/L; chloride, 108 mmol/L; bicarbonate, 20 mmol/L; blood urea nitrogen, 4.1 mmol/L; creatinine, 19 mmol/L; C-reactive protein, 8.6 mg/L; and procalcitonin, 0.16 μg/L (reference value, < 0.09 μg/L). His multiplex polymerase chain reaction was positive for rhinovirus, enterovirus, and Mycoplasma pneumoniae. He was started on intravenous ceftriaxone, metronidazole, and clarithromycin, for community-acquired and aspiration pneumonia, and on total parenteral nutrition. An ultrasonography performed on day 1 showed a large hiatal hernia with gastric volvulus (Figure 3), with normal vascularity and no gastric outlet obstruction. An upper gastrointestinal series on day 19 reconfirmed the presence of CHH with gastric volvulus (Figure 4).

The infant remained stable during his hospitalization and underwent laparoscopic repair of CHH and Nissen fundoplication with gastropexy on day 25. Intraoperative findings include a hiatal hernia with a 5 cm-sized anteroposterior defect with the entire stomach in the thorax and a 180° organo-axial gastric volvulus. He was weaned off total parenteral nutrition on day 31 and discharged well on day 32. No other congenital anomalies were identified during the hospitalization. At a 2-week follow-up visit, he had no more vomiting and was tolerating feeds well. However, weight gain remained poor, and he was referred to a pediatrician for further work-up for FTT.

We present a case of a 4-month-old infant with recurrent respiratory and gastrointestinal symptoms, and FTT. He was initially diagnosed with more common nonsurgical conditions based on misleading clinical, laboratory, and radiological findings, and eventually diagnosed with CHH and gastric volvulus.

Clinical presentation of CHH is often nonspecific, which makes diagnosis difficult. It may include a myriad of gastrointestinal and respiratory complaints such as cough, recurrent lung infections, vomiting, poor feeding, or FTT (1-3,5). When it does present in infancy, the age of symptom onset ranges from 5 to 10 months, although this is likely to be influenced by defect size and presence of complications (2,3,8-10). In addition, gastric volvulus, where the stomach rotates at least 180° on its axis, is an even rarer occurrence in infancy. Non-bilious vomiting is the most common presentation in children younger than 5 years with gastric volvulus (11). In acute presentations, there can be acute respiratory distress, while chronic cases are more likely to present with FTT, gastric reflux, or periodic abdominal pain.

Another important consideration of CHH presentation is the periods of symptom quiescence interspersed with symptomatic periods. These periods likely correspond to the intermittent reduction of the herniated stomach (2,7). In addition, during the episodes of transient volvulus or herniation of the stomach, reflux of gastric contents may cause direct bronchial irritation and bronchospasms, and pulmonary symptoms may sometimes be the only manifestation of CHH (12). Hence, unless clinicians have a high index of suspicion, such findings can be erroneously attributed to more common causes in this age group, such as gastroesophageal reflux disease or lower respiratory tract infections. This compounds the issue of delayed diagnosis, with a case series showing that the diagnosis of CHH may be delayed up to 5.2 months after symptom onset (2).

It is imperative that clinicians diagnose CHH with gastric volvulus early. Potential complications include esophageal strictures, gastric obstruction, ischemia, perforation, sepsis, and mortality (13,14). Abdominal radiography and upper gastrointestinal series are needed for diagnosis (6,11,13-15). Based on our experience, we also advocate the insertion of an NGT with repeat CR in the ED, allowing for early recognition, as well as gastric decompression and reduction. Both symptomatic CHH and secondary gastric volvulus require surgical correction (6,13).

CHH is part of a larger group of CDHs, and from an ED perspective, it is useful to understand how CDH presents differently. A Bochdalek hernia, the most common CDH, is caused by an anatomical defect of the posterolateral diaphragm, and typically presents with respiratory symptoms in infancy, usually from pulmonary hypoplasia or hypertension due to herniation of abdominal contents on the developing lungs (16). The lack of respiratory illnesses in the immediate post-birth period for CHH suggests a more progressive herniation after birth (2). Hence, larger defects are likely to present earlier, such as those of our patient. Conversely, foramen of Morgagni hernia, the rarest form, is due to an anterior retrosternal, mostly right-sided diaphragm defect. When diagnosed in early childhood or infancy, it may be associated with other congenital abnormalities such as cardiac defects, trisomy 21, or Pentalogy of Cantrell (17,18). Furthermore, more frequently herniated organs include the liver, omentum, or transverse colon. Compared to the other CDHs, CHH typically has a central location on anteroposterior view and a posterior location on lateral view of CRs (5). Our patient presented with a right-sided intrathoracic location of the stomach, which was initially thought to be a foramen of Morgagni hernia. However, the right-sided intrathoracic bubble should have instead raised concerns of CHH with gastric volvulus, which is a surgical emergency (7,15).

In conclusion, we would like to highlight the importance of considering CHH as a differential diagnosis in infants who present with recurrent gastrointestinal and respiratory symptoms and FTT. While clinical findings may be misleading, clinicians should maintain a high level of suspicion of congenital causes of such presentations. Placement of an NGT can be considered if suspicious gas-filled structures are noted on CR. Early recognition, especially in the ED, would reduce morbidity and mortality. Surgical repair is the mainstay of management.