An uncommon cause of dysphagia in pediatric age

Introduction: Achalasia is a rare disease in children of unknown etiology. For its rarity and diagnostic difficulty, the authors report the case of a teenager with achalasia. Case report: 15-year-old boy, with unremarkable past medical history, was referred to the outpatient clinic with a 3-month history of regurgitation and dysphagia. An upper digestive endoscopy was performed, which was normal. The symptoms got worse and he lost 9% of weight. Considering the diagnosis of eating behavior disorder, he was admitted for further investigation. Laboratorial evaluation was unremarkable. Dysphagia characterization suggested a disorder of esophageal motility. Barium follow-through was compatible with achalasia and high-resolution esophageal manometry confirmed this diagnosis. He underwent laparoscopic Heller myotomy combined with Dor fundoplication with no symptom recurrence. Comments: Achalasia is a rare disease associated with a challenging and delayed diagnosis. The normality of the upper digestive endoscopy and the hypothesis of an eating behavior disorder both led to a delayed diagnosis. It is important to proceed with investigation in the presence of unremitting dysphagia symptoms.