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The missing link.

J Maus1, S Naegels1, H Slabbynck2

  • 1ZNA Middelheim, Department of Gastro-enterology.

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|January 16, 2019
PubMed
Summary
This summary is machine-generated.

A rare adult congenital tracheoesophageal fistula (TEF) can mimic achalasia, causing esophageal dilation and wheezing. Early diagnosis of this H-type fistula is crucial for effective management.

Keywords:
H-typeadultcongenitaltracheoesophageal fistula

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Area of Science:

  • Medical Case Reports
  • Gastroenterology
  • Pulmonology

Background:

  • Congenital tracheoesophageal fistula (TEF) is typically diagnosed neonatally, often with esophageal atresia.
  • H-type TEF, lacking esophageal atresia, presents subtly and can be missed in infancy.
  • Adult presentation of H-type TEF is uncommon, leading to diagnostic delays.

Observation:

  • A 28-year-old woman presented with expiratory wheezing and dysphagia.
  • Unexplained esophageal dilation mimicking achalasia was noted.
  • Diagnostic workup included esophagoscopy, bronchoscopy, barium esophagography, and CT scan.

Findings:

  • A tiny, H-type congenital tracheoesophageal fistula was diagnosed.
  • The primary diagnostic clue was significant, aperistaltic esophageal dilation.
  • CT reconstruction was key in identifying the small fistula.

Implications:

  • Highlights H-type TEF as a differential diagnosis for achalasia-like esophageal dilation in adults.
  • Emphasizes the importance of considering congenital TEF in adults with unexplained wheezing and dysphagia.
  • Suggests improved awareness and diagnostic strategies for subtle H-type TEF presentations.