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

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 ou...

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Main Authors: Hiroko Ando, Hideki Mori, Kaoru Takabayashi, Noriko Matsuura, Tatsuhiro Masaoka, Juntaro Matsuzaki, Yoshimasa Saito, Motohiko Kato, Kenjiro Kosaki, Takanori Kanai
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:DEN Open
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Online Access:https://doi.org/10.1002/deo2.70043
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Summary: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.
ISSN:2692-4609