A Case of Infantile Achalasia in Alacrima–Achalasia–Mental Retardation Syndrome: A Rare and Complex Association

Alacrima-Achalasia-Mental Retardation (AAMR) syndrome, also known as GDP-Mannose Pyrophosphorylase A (GMPPA)- Congenital Disorder of Glycosylation (GMPPA-CDG), is a rare autosomal recessive condition characterised by alacrima, achalasia, and intellectual disability. Due to its rarity and the variable clinical presentation, diagnosis is often delayed. Hereby, the authors present a case of one-year-old female with progressive feeding difficulties, global developmental delay, and failure to thrive. Evaluation revealed absence of tear production, with radiologic and endoscopic confirmation of achalasia. Genetic testing identified a homozygous pathogenic variant in the GMPPA gene, confirming GMPPA-CDG. Despite an unremarkable perinatal and family history, the clinical triad was evident. Surgical management with Heller myotomy and Dor fundoplication led to significant symptomatic relief and catch-up growth. The present case highlights the importance of early syndromic recognition and genetic confirmation in children with feeding and developmental concerns. Timely surgical and multidisciplinary interventions can improve outcomes in rare neurogastroenterological disorders like GMPPA-CDG.