Gastroesophageal reflux (GER) is the most common esophageal disorder in children of all ages and is a frequent reason for visits to the pediatric emergency department.¹ It is a normal physiological event that occurs when gastric contents pass into the esophagus through transient relaxations in the lower esophageal sphincter (LES). Most of these episodes are short-lived and asymptomatic. Gastroesophageal reflux disease (GERD) is defined as reflux associated with bothersome symptoms and complications.^2–4 While the pathophysiology of GER in infants, children, and adults is similar, the symptoms and clinical presentations can be quite different (Table 73-1).

GER is common in neonates, occurring in more than 60% of healthy infants by 6 months of age. There are multiple factors that predispose infants to GER including immaturity of the LES, short intra-abdominal esophagus, and a primarily liquid diet. Reflux generally disappears by 1 year of age as the LES matures and solid foods become a large part of the diet. Only 5% to 10% of infants still display symptoms of regurgitation after this time.^3–5

The great majority of infants with physiologic reflux are “happy spitters.” These infants typically regurgitate small volumes of breast milk or formula after feeding but are relatively unaffected by it. They gain weight appropriately and typically “outgrow” their symptoms by 12 months of age.

A small number of infants will develop complications of reflux and progress to GERD. Common infantile symptoms of GERD include regurgitation and vomiting, sleep disturbances, irritability, feeding difficulties and/or refusal, and failure to thrive.^5–8 Most affected infants will display one or more of these symptoms. GERD appears to be less common in breastfed infants than in those that are formula-fed.⁸ In addition, preterm infants have an increased risk of developing GERD, especially those with bronchopulmonary dysplasia.⁶

Infants with severe GERD may develop Sandifer syndrome (spasmodic torsional dystonia), which is characterized by opisthotonus and irritability. The stereotypic stretching and arching movements may be mistaken for seizure activity.^5,9 Excessive crying and arching are caused by painful reflux episodes, and typically occur during or shortly after feeding when gastric acid enters the esophagus. Many infants with this condition will exhibit failure to thrive.

GERD may also induce respiratory symptoms in infants including chronic cough, bronchospasm, stridor, and wheezing. In severe cases, aspiration pneumonia may occur. Reflux in infants may also manifest as an acute life-threatening event (ALTE) with respiratory distress and cyanosis.⁵ This occurs when reflux causes laryngospasm and bronchospasm.

The main challenge in evaluating infants with symptoms of reflux is distinguishing reflux from true vomiting. Reflux typically occurs during or shortly after feeding and does not involve forceful muscle contraction. Vomiting occurs when stomach contents are forcefully expelled into the esophagus and out of the mouth by contractions of the abdominal and chest wall muscles. While this distinction can be difficult in infants, vomiting should prompt consideration of other diagnoses. Other symptoms that may require further investigation and/or referral to a specialist include bilious emesis, GI bleed, weight loss, abdominal distention, dysphagia, hepatosplenomegaly, fever and/or lethargy, and coexisting seizure disorder.^2,3,6,10 Alternative diagnoses may include milk protein allergy, food allergy, eosinophilic esophagitis, stricture, esophageal web, hiatal hernia, pyloric stenosis (Fig. 73-1), intestinal obstruction (malrotation/volvulus), foreign-body ingestion, infection, inborn errors of metabolism, and increased intracranial pressure (Table 73-2).