Beyond the Usual: A Rare Case of Tracheoesophageal Fistula

非同寻常:一例罕见的食管气管瘘

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Abstract

Esophageal atresia (EA) with tracheoesophageal fistula (TEF) is an uncommon congenital abnormality, and double TEF is observed in less than 1% of all EA/TEF cases. Additionally, recurrence of EA with TEF in the offspring of affected individuals is also considered a rare condition. We present the case of an early-term infant with a paternal family history of EA/TEF who was diagnosed with EA and a distal TEF (type C EA/TEF), underwent primary repair and ligation, and was subsequently found to have a second proximal fistula (type D TEF). This case highlights the diagnostic challenges associated with double TEF and emphasizes the importance of thorough evaluation in all EA/TEF presentations. Maintaining a high index of suspicion is essential to ensure all anatomical variants are identified and appropriately managed. Familial recurrence of isolated EA/TEF, while infrequent, should also be considered in clinical assessment and counseling.

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