Association of achalasia and Down syndrome in an adult patient: a case report

Abstract

Achalasia is a rare primary esophageal motility disorder caused by degeneration of inhibitory neurons in the myenteric plexus, resulting in impaired lower esophageal sphincter (LES) relaxation and absent peristalsis. Adult-onset achalasia in individuals with Down syndrome is exceedingly uncommon and may be underrecognized due to subtle or atypical symptom expression. This case, reported adult with Down syndrome and achalasia, highlights the importance of early recognition and multidisciplinary care. We report a 63-year-old man with genetically confirmed Down syndrome presenting with progressive dysphagia to solids, postprandial regurgitation, intermittent retrosternal discomfort, and a 10 kg weight loss over six months. Oral intake was markedly restricted, and communication limitations hindered symptom reporting. Upper endoscopy revealed retained semi-solid food and resistance at the LES without mucosal lesions. High-resolution manometry (HRM) confirmed type II achalasia with 100% failed peristalsis and panesophageal pressurization. The patient underwent laparoscopic Heller myotomy with anterior (180°) Dor fundoplication. Intraoperative findings included tissue laxity, gastroesophageal junction fibrosis, and a 1.5 cm hiatal hernia, which was repaired. Recovery was uneventful. At one-year follow-up, the patient achieved complete resolution of dysphagia, normalized oral intake, sustained weight gain (BMI 17.8 to 23.1 kg/m²), and absence of reflux. Adult-onset achalasia in Down syndrome is rare but clinically significant. Diagnosis and timely laparoscopic intervention provide durable symptom relief and nutritional improvement. This case emphasizes the importance of clinical vigilance and multidisciplinary care for optimal outcomes in this population.