PDF(Pubmed)
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.
摘要：
一名患有Klinefelter综合征（KS）的4岁男性，说话延迟,并且在进餐时咳嗽和窒息的间歇性病史被提交评估。先前用计算机断层扫描进行的评估显示，胃食管交界处的食管扩张。患者不能耐受钡吞咽。进行了上消化道内窥镜检查，术中食管造影,表现出“鸟嘴”的外观，暗示着贲门失弛缓症。贲门失弛缓症和KS之间没有文献记载的关系。然而,我们利用TriNetX(大规模数据交换所)证明KS患者的贲门失弛缓症患病率高于普通人群.
