Down's syndrome (DS) (a genetically determined disorder caused by trisomy 21) may be associated with a variety of dysfunctions that can affect any organ and system. Esophageal atresia and tracheoesophageal fistula are the most recognized esophageal disorders in DS [1] but there are reported cases of the coexistence of Down's syndrome and esophageal achalasia [2][3]. In these studies achalasia is generally characterized by the lack of peristaltic contractions of the esophageal body, increased lower esophageal sphincter (LES) pressure, and impaired LES relaxation during swallowing. Abnormalities in esophageal motility can result in swallowing difficulties, heartburn and regurgitation. We report on a child with DS and cricopharyngeal (CP) dysfunction due to hypertonic upper esophageal sphincter (UES) successfully treated with surgery.

Hypertonic upper esophageal sphincter in Down's syndrome: a case report

GAMBA, PIERGIORGIO;BARDINI, ROMEO;MASIERO, STEFANO
2011

Abstract

Down's syndrome (DS) (a genetically determined disorder caused by trisomy 21) may be associated with a variety of dysfunctions that can affect any organ and system. Esophageal atresia and tracheoesophageal fistula are the most recognized esophageal disorders in DS [1] but there are reported cases of the coexistence of Down's syndrome and esophageal achalasia [2][3]. In these studies achalasia is generally characterized by the lack of peristaltic contractions of the esophageal body, increased lower esophageal sphincter (LES) pressure, and impaired LES relaxation during swallowing. Abnormalities in esophageal motility can result in swallowing difficulties, heartburn and regurgitation. We report on a child with DS and cricopharyngeal (CP) dysfunction due to hypertonic upper esophageal sphincter (UES) successfully treated with surgery.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/2459283
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