Peroral endoscopic myotomy in pediatric triple a syndrome: report of three cases.

Abstract

Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by adrenal insufficiency, alacrima, and achalasia. Although peroral endoscopic myotomy (POEM) is increasingly used for pediatric achalasia, its role in Triple A-related cases remains poorly defined. We report three genetically confirmed pediatric patients (aged 11-16 years) with Triple A syndrome and refractory achalasia who underwent POEM following unsuccessful pneumatic dilatation and/or botulinum toxin injection. Clinical characteristics, procedural details, and short-term outcomes were evaluated. All three patients presented with long-standing dysphagia, regurgitation, and vomiting, with Eckardt scores of 12 at admission and body mass indices ranging from 15.6 to 17.4 kg/m². Posterior POEM was performed using a 5 o'clock approach, with submucosal tunnel lengths of 10-25 cm and myotomy lengths of 6-18 cm esophageal plus 3 cm gastric. Procedures lasted 40-65 minutes, with no intraoperative complications. Oral intake was resumed within 24 hours and all patients were discharged within 30-43 hours. At 2-4 months follow-up, all remained asymptomatic with Eckardt scores of 0. POEM appears to be a safe and effective therapeutic option for Triple A-related achalasia in pediatric patients who fail conventional therapies. Our series, the largest reported to date in this population, supports the consideration of POEM as a durable minimally invasive treatment. Longer-term follow-up and multicenter experience are needed to confirm these findings.