Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of esophageal achalasia (EA) in Downa9s syndrome. A six-year-old girl with DS was referred from another hospital for further management of dysphagia and growth retardation (weight 16.3 kg, height 105.4 cm: both below -1.5 SD). Dysphagia commenced when she was one year old and gastroesophageal reflux (GER) was diagnosed when she was four. Routine investigations suggested EA or esophageal stenosis secondary to GER. While dissecting the esophago-gastric junction in preparation for a Heller-Dor esophagocardiomyotomy (HD-ECM), the crus of the diaphragm was noted to be narrowed, severely fibrosed and attached to the lower esophagus which was covered by dense scar tissue suggestive of an old esophageal perforation secondary to GER esophagitis. A Nissen fundoplication was performed, but dysphagia persisted postoperatively, and a narrowing 2 cm above the fundoplication wrap with proximal dilatation was found on repeated barium studies. At re-laparotomy, the fundoplication was unwrapped and HD-ECM performed. Eight months postoperatively, she is well with no recurrence. EA must be considered in any DS patient presenting with dysphagia.
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PMID:Down's syndrome and esophageal achalasia: a rare but important clinical entity. 1626 71