Esophageal Achalasia: The Missing Piece for the Diagnosis of Allgrove / Triple A Syndrome
Abstract:
Objectives and Study: Esophageal achalasia is a rare and underdiagnosed disorder in pediatrics (1). Triple A or Allgrove Syndrome (AS) is a clinical entity characterized by alacrimia, adrenal insufficiency and achalasia (2). We present the first case of AS in a Colombian teenager.
Methods: A 13 year old presented with choking, dysphagia, and suspicion of Sjogren's syndrome. Medical his tory revealed a prior diagnosis of adrenal insufficiency, hypothyroidism, optic neuritis, and alacrimia. Barium swallow and High Resolution Manometry, confirmed type II achalasia, giving the start of the AS diagnostic journey. Despite an initial resolution of symptoms following endoscopic pneumatic dilatation, three months later symptoms reappeared and referral to surgical management was indicated.
Results: Achalasia, a motility disorder characterized by impaired peristaltism and inadequate lower esoph ageal sphincter relaxation (3), manifests as dysphagia, reflux, weight loss, and failure to thrive (4). AS is an autosomal recessive disease caused by a defect in the AAAS gene. The triad of symptoms—esophageal acha lasia, alacrimia, and adrenal insufficiency—constitutes the diagnostic hallmark (2,4). The onset of symptoms follows a distinct pattern, with alacrimia typically presenting within the first year of life, adrenal insufficiency emerging in the first decade and achalasia developing in adolescence (1‐5). AS diagnosis can be challenging, often leading to confusion with other conditions such as Sjogren's syndrome (2,4) Early recognition is cru cial, given the syndrome's severe course and a notable rate of therapeutic failure associated with esophageal achalasia (5).
Conclusions: This case report not only highlights the underrecognized nature of AS but also emphasizes the importance of early diagnosis in guiding appropriate therapeutic strategies, improving the overall quality of life of patients (4,6,7). The presented case stands as the first reported triple A syndrome patient in Colombia, contributing to the global understanding of this rare entity
