Case Presentation: A 3 month old male was referred to the ED by his PMD for failure to thrive (FTT), reflux and noisy breathing with feeds. He was the term product of a normal pregnancy and delivery, and had no perinatal issues other than developing reflux shortly after birth. His PMD started zantac with minimal improvement. His mother then eliminated milk from her diet and the patient was switched to Neocate formula for concern for a milk protein allergy, also without improvement. An ultrasound of the pylorus was obtained and did not reveal pyloric stenosis. On the day of admission, the patient presented to his PMD and was at that time had fallen from 40-50% weight for age at birth to ~3%. In the ED he had normal VS, was well-appearing and well-hydrated. The only pertinent positive on physical exam was a “very, very subtle inspiratory squeak” after a feed. A chest x-ray was obtained and revealed an intrathoracic gastric bubble concerning for a large diaphragmatic or hiatal hernia with anterior mediastinal shift. An upper GI fluoroscopy revealed a large, sliding-type hiatal hernia with the entirety of the stomach within the right thorax. There was no evidence of volvulus. The esophagus was found to be dilated and tortuous and a small amount of gastroesophageal reflux was observed. The patient was admitted to the hospital for IV nutrition and he was eventually taken to the OR for a hiatal hernia repair, gastropexy and gastrostomy. He was discharged two weeks later in good condition on a combination of breast/bottle feeding and gastric tube feeds.
Discussion: Though most significant anatomic abnormalities are now identified before birth, screening is not perfectly sensitive. FTT is most often due to insufficient caloric intake, but organic etiologies must be kept on the differential. Imaging studies are not part of the routine evaluation of infants with FTT, but unexpected symptoms or physical exam findings may warrant a more in-depth workup.
Conclusions: Hiatal hernias are rare in children, and are usually due to a departure from normal embryological development. They may present as paraesophageal (a section of the stomach alone protruding into the thoracic cavity), sliding (upward displacement of the gastroesophageal junction through the diaphragmatic hiatus), or with characteristics of both types. Infants or children with small or intermittent hernias may remain asymptomatic. Symptomatic patients may experience recurrent upper respiratory tract infections, vomiting, dysphagia or FTT. The etiology of FTT in these cases is often not clear, but likely involves a combination of increased metabolic demand, dysphagia or inefficient feeding, and possible feeding aversion. Surgical repair of pediatric hiatal hernias includes reduction of hernia contents and hernia repair as well as an anti-reflux procedure.