The missing link

Abstract

We present a case of a 28-year old woman who presented with bizarre wheezing breath sounds on expiration and dysphagia, with unexplained significant dilation of the esophagus mimicking achalasia finally leading to the diagnosis of a very small congenital tracheoesophageal fistula (TEF). Congenital TEF is usually detected shortly after birth and is typically accompanied by esophageal atresia. Congenital TEF without esophageal atresia (H-type fistula) can be missed in early life and diagnosis may be postponed until adulthood due to subtle symptoms. Diagnosis is usually based upon a combination of esophagoscopy, bronchoscopy, barium esophagography and CT-scan. The only clue can be the finding of a significant dilated aperistaltic esophagus, with subsequent more detailed CT reconstruction revealing a very tiny H-type TEF. It is important to raise the awareness of small H-type TEF as a possible cause of achalasia-like esophageal dilation in adulthood and of very unusual and bizarre wheezing breath sounds.