Diagnostic and surgical challenges in atypical forms of esophageal atresia: A case series.

BACKGROUND

Esophageal atresia (EA) is a rare malformation (∼1 in 2500-3000 live birth) typically involving a blind upper pouch and distal tracheoesophageal fistula (TEF) (≈86 % of cases). Atypical forms (such as duplications, vascular rings, or functional obstructions) lie outside standard classifications and they are very uncommon. These variants can confound diagnosis and require adapted strategies.

METHODS

We retrospectively reviewed 43 EA cases (2018-2021) and identified three with atypical anatomic or functional presentations. Clinical, radiologic, and endoscopic findings were analyzed. Each case demanded a bespoke diagnostic and surgical plan.

RESULTS

Case 1: A neonate with EA/TEF had a long esophageal duplication with an internal septum. The septum was divided and the esophagus anastomosed; although the repair was intact, the infant later died from aspiration pneumonia. Case 2: EA repair was complicated by a right aortic arch (≈6 % of EA/TEF patients). We tunneled the distal esophagus behind the arch for a thoracoscopic anastomosis. A mild stricture was dilated, and the infant tolerated full feeds. Case 3: Initial imaging suggested EA, but endoscopy showed a continuous but narrowed esophagus (likely a motility disorder). Tube feeding led to normalization by 1 month, avoiding surgery. Two infants survived with good feeding outcomes.

CONCLUSION

These cases (≈7 % of our EA cohort) illustrate that atypical EA variants require individualized management. Detailed imaging and endoscopy were critical to identify unusual anatomy. Tailored thoracoscopic techniques (such as septum resection and retro-arch anastomosis) restored continuity in two infants, while recognizing a motility obstruction in the third obviated surgery. Awareness of atypical anatomy is essential to improve outcomes.

THE LEVEL OF EVIDENCE: IV.