Hypertonic Upper Esophageal Sphincter in Down's Syndrome: A Case Report

Introduction

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.

References

• 1 Torfs CP, Bateson TF, Curry CJR. Anorectal and esophageal anomalies with Down's syndrome.  Am J Med Gen. 1992;  44 847
• 2 Zarate N, Mearin F, Hidalgo A. et al . Prospective evaluation of esophageal motor dysfunction in Down's syndrome.  Am J Gastroenterol. 2001;  96 1718-1724
• 3 Okawada M, Okazaki T, Yamataka A. et al . Down's syndrome and esophageal achalasia: a rare but important clinical entity.  Pediatr Surg Int. 2005;  21 997-1000
• 4 Rosenbek JC, Robbins J, Roecker EV. et al . A Penetration-Aspiration Scale.  Dysphagia. 1996;  11 93-98
• 5 Orringer MB. Extended cervical esophagomyotomy for cricopharyngeal dysfunction.  J Thorac Cardiovasc Surg. 1980;  80 669-678
• 6 Ellis FH, Crozier RE. Cervical esophageal dysphagia. Indications for and results of cricopharyngeal myotomy.  Presented at the Annual Meeting of the American Surgical Association, Chicago, Illinois, 1981; 
• 7 Kelly JH. Management of upper esophageal sphincter disorders: indications and complications of myotomy.  Am J Med. 2000;  108 43-46
• 8 Zaninotto G, Marchese Ragona R, Briani C. et al . The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia.  J Gastrointest Surg. 2004;  8 997-1006

Correspondence