Atypical Respiratory Presentation of Pediatric Achalasia: A Case Report

Esophageal achalasia is a rare smooth muscle disorder characterized by the absence of peristalsis and impaired relaxation of the lower esophageal sphincter (LES), ultimately leading to obstruction and impaired bolus transit. Pediatric achalasia is especially uncommon and can present with diagnostic delay due to clinical overlap with more common gastrointestinal and pulmonary conditions. We report the case of a previously healthy 13-year-old girl who presented with a five-month history of persistent nocturnal cough, fevers, and progressive weight loss, repeatedly diagnosed and treated as bronchospasm and community-acquired pneumonia without improvement. Over time, she developed non-bloody, non-bilious emesis, decreased oral intake and tolerance, and dysphagia localized to the mid-chest, raising concern for obstructive esophageal pathology. Computed tomography (CT) of the chest revealed a markedly dilated, food- and fluid-filled esophagus with abrupt tapering at the gastroesophageal junction (GEJ), suggestive of achalasia. Diagnosis was confirmed with a timed barium esophagram and upper endoscopy with functional lumen imaging probe (FLIP). The patient underwent therapeutic botulinum toxin injection, with rapid symptom improvement, and nutritional rehabilitation, followed by surgical correction with thoracoscopic esophagomyotomy. This case highlights the potential for respiratory-dominant atypical presentations of achalasia in pediatric patients and the importance of early diagnosis and intervention to prevent long-term complications, including recurrent aspiration and impact on growth and development secondary to nutritional deficits.