%0 Case Reports
%T Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population.
%A Miller L
%A Cho HG
%A Banayan C
%A Vega Lemus V
%A Sharma S
%A Wallach T
%J JPGN Rep
%V 5
%N 3
%D 2024 Aug
%M 39149173
暂无%R 10.1002/jpr3.12084
%X 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.