Successful treatment of achalasia in the context of Allgrove syndrome using peroral endoscopic myotomy in siblings: a clinical case

Objective. To present current evidence on Allgrove syndrome and to review diagnostic and therapeutic approaches to achalasia associated with this condition based on a clinical case. Key points. Allgrove syndrome (Triple-A syndrome) is a rare autosomal recessive genetic disorder characterized by a triad of features: chronic adrenal insufficiency, achalasia, and alacrima. The condition is caused by mutations in the AAAS gene located on chromosome 12q13. The clinical presentation of achalasia in Allgrove syndrome is generally comparable to that of idiopathic achalasia; however, the disease typically manifests in childhood, which determines specific clinical features, including less pronounced dysphagia, growth retardation, and a predisposition to recurrent respiratory infections. The diagnostic workup for suspected achalasia includes barium esophagography, esophagogastroduodenoscopy, and esophageal manometry. High-resolution manometry is considered the gold standard for diagnosis, including in pediatric patients, as it allows accurate classification of achalasia subtypes and facilitates optimal selection of surgical strategy. Historically, laparoscopic Heller myotomy has been the mainstay of treatment for achalasia. In 2010, Inoue introduced an alternative minimally invasive technique—peroral endoscopic myotomy (POEM), which is performed via an intraluminal approach to the esophageal muscular layer. To date, substantial experience with POEM has been accumulated in adult populations, whereas its use in pediatric patients remains limited. Conclusion. Diagnostic strategies and determination of the extent of myotomy in patients with Allgrove syndrome should be guided by high-resolution manometry findings and aligned with the principles applied in the management of idiopathic achalasia.