Upper gastrointestinal triple stenosis in a patient with trisomy 17p syndrome: Case report and literature review

IF 1.4 Q4 GASTROENTEROLOGY & HEPATOLOGY DEN open Pub Date : 2024-12-23 DOI:10.1002/deo2.70043
Hiroko Ando, Hideki Mori, Kaoru Takabayashi, Noriko Matsuura, Tatsuhiro Masaoka, Juntaro Matsuzaki, Yoshimasa Saito, Motohiko Kato, Kenjiro Kosaki, Takanori Kanai
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Abstract

Upper gastrointestinal stenosis, which can be congenital or acquired, can lead to dysphagia. The association between trisomy 17p syndrome, a rare chromosomal abnormality, and upper gastrointestinal stenosis is unclear. A 20-year-old man diagnosed with trisomy 17p syndrome was referred to our department due to recurrent vomiting. Esophagogastroduodenoscopy revealed stenotic areas in the esophagus, stomach, and duodenum. The congenital gastrointestinal stenosis present in both the duodenum and esophagus suggested that the stasis and reflux of digestive fluids exacerbated stenosis in the stomach and esophagus. Gastric acid suppression therapy and endoscopic dilation of the esophagus and duodenum effectively resolved the patient's vomiting symptoms.

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17p三体综合征患者上消化道三联狭窄1例报告并文献复习。
上消化道狭窄,可先天性或后天,可导致吞咽困难。17p三体综合征是一种罕见的染色体异常,与上消化道狭窄之间的关系尚不清楚。一名20岁男性,诊断为17p三体综合征,因反复呕吐而转介至我科。食管胃十二指肠镜检查显示食管、胃和十二指肠狭窄。先天性胃肠道狭窄存在于十二指肠和食道,表明消化液的淤积和反流加剧了胃和食道的狭窄。胃酸抑制治疗和内镜下食管和十二指肠扩张有效地解决了患者的呕吐症状。
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