Concurrent findings of achalasia and duodenal duplication in a Down syndrome patient.
The association between Down syndrome and gastrointestinal anomalies such as duodenal and esophageal atresia, tracheoesophageal fistulas, and Hirschsprung's disease is well documented. More recently, an association between Down syndrome and achalasia was reported. In this report, we describe a 48-year-old woman with a history of Down syndrome who presented with dysphagia. Work-up of the dysphagia showed not only achalasia but also a duodenal duplication. To our knowledge, there have been no reports of Down syndrome associated with duodenal duplication. Whether this finding is simply a coincidence or whether duodenal duplication is associated with Down syndrome will need to be determined with future studies.
Chen
Gary C
GC
Division of Gastroenterology, GI Motility Center, Cedars-Sinai Medical Center, Los Angeles, California, USA. gcchen@mednet.ucla.edu
Cheng
Derek W
DW
Enayati
Pedram J
PJ
Chen
George
G
Conklin
Jeffrey L
JL
Soffer
Edy E
EE
D003680:Deglutition Disorders / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis; D004386:Duodenum / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D004931:Esophageal Achalasia / Q000150:complications* / Q000175:diagnosis; D005260:Female; D018662:Fundoplication / Q000379:methods; D006801:Humans; D008365:Manometry / Q000009:adverse effects; D008875:Middle Aged; D016896:Treatment Outcome