Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population

Abstract

A 4‐year‐old male with Klinefelter syndrome (KS), speech delay, and intermittent history of coughing and choking during meals was referred for evaluation. Prior evaluation with computed tomography showed a dilated esophagus at the gastroesophageal junction. The patient was unable to tolerate a barium swallow. Upper endoscopy was performed, and an intraoperative esophagogram, demonstrated a “birds beak” appearance suggestive of achalasia. There is no documented relationship between achalasia and KS. However, we utilized TriNetX (a large‐scale data clearinghouse) to demonstrate a higher prevalence of achalasia in patients with KS as compared to the general population.