{"title":"经口内窥镜下肌切开术治疗小儿三甲综合征3例报告。","authors":"Ali Cagatay Bozkına, Abdullah Murat Buyruk","doi":"10.17235/reed.2025.11589/2025","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":21342,"journal":{"name":"Revista Espanola De Enfermedades Digestivas","volume":" ","pages":""},"PeriodicalIF":4.0000,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Peroral endoscopic myotomy in pediatric triple a syndrome: report of three cases.\",\"authors\":\"Ali Cagatay Bozkına, Abdullah Murat Buyruk\",\"doi\":\"10.17235/reed.2025.11589/2025\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":21342,\"journal\":{\"name\":\"Revista Espanola De Enfermedades Digestivas\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2025-09-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Espanola De Enfermedades Digestivas\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17235/reed.2025.11589/2025\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Espanola De Enfermedades Digestivas","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17235/reed.2025.11589/2025","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Peroral endoscopic myotomy in pediatric triple a syndrome: report of three cases.
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.
期刊介绍:
La Revista Española de Enfermedades Digestivas, Órgano Oficial de la Sociedad Española de Patología Digestiva (SEPD), Sociedad Española de Endoscopia Digestiva (SEED) y Asociación Española de Ecografía Digestiva (AEED), publica artículos originales, editoriales, revisiones, casos clínicos, cartas al director, imágenes en patología digestiva, y otros artículos especiales sobre todos los aspectos relativos a las enfermedades digestivas.