{Reference Type}: Case Reports
{Title}: Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population.
{Author}: Miller L;Cho HG;Banayan C;Vega Lemus V;Sharma S;Wallach T;
{Journal}: JPGN Rep
{Volume}: 5
{Issue}: 3
{Year}: 2024 Aug
暂无{DOI}: 10.1002/jpr3.12084
{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.