Keywords: Tracheoesophageal fistula, recurrent respiratory infections, pediatric airway anomalies, aspiration pneumonia, delayed diagnosis

Background:

Tracheoesophageal fistula (TEF) is a congenital foregut malformation characterized by an abnormal communication between the trachea and esophagus. While TEF is typically diagnosed in the neonatal period, isolated (H-type) TEF, which lacks associated esophageal atresia, often presents later in childhood with chronic respiratory symptoms, aspiration events, and recurrent pneumonia, leading to diagnostic delays and inappropriate treatment.

Aim of the case report:

This study highlights the diagnostic challenges of isolated tracheoesophageal fistula (TEF) in children with recurrent respiratory infections. By analyzing a delayed TEF diagnosis in a 5-year-old, we emphasize the need for suspicion, recognition, appropriate diagnostic workup to prevent prolonged morbidity.

Case report:

We present a 5-year-old female with chronic laryngobronchitis and recurrent upper respiratory infections of unknown etiology. She was first diagnosed with an airway infection at 2.5 months old. She had 75 documented episodes of respiratory infections over five years, including acute bronchitis, laryngitis, pharyngitis, tracheitis and purulent endobronchitis. The patient was treated with multiple courses of antibiotics, along with antihistamines, nasal and inhaled corticosteroids, bronchodilators, and immune-modulating therapies. Despite persistent airway infections, she exhibited no significant feeding difficulties, and was diagnosed with overweight at three years of age. The patient also received a proton pump inhibitor (PPI) therapy for gastroesophageal reflux disease (GERD)-like symptoms.
The first clinical suspicion of laryngomalacia was noted in 2022, but tracheoesophageal fistula was definitively diagnosed only in December 2024 following bronchoscopy and fibrogastroscopy.

Conclusions:

This case highlights the diagnostic challenges of isolated TEF, which can remain undetected due to non-specific symptoms and the absence of neonatal feeding difficulties. While 6–12 upper respiratory infections per year are within the normal pediatric range, the excessive frequency, resistance to treatment, and recurrent lower respiratory involvement in this patient should have prompted earlier structural airway evaluation. Delayed diagnosis can lead to prolonged respiratory morbidity, unnecessary antibiotic exposure, and increased healthcare utilization.