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Isolated tracheoesophageal fistula in a 10-year-old girl
Iris De Schutter1, Françoise Vermeulen, Elke De Wachter
1Department of Pediatrics, Pediatric Respiratory Medicine, Cystic Fibrosis Clinic and Infectiology, Academic Hospital Vrije Universiteit Brussel (AZ-VUB), Brussels, Belgium.
Insights
Isolated tracheoesophageal fistula (H-TOF) is rare and often missed. This case highlights diagnostic challenges in children with H-TOF, even when symptoms temporarily resolve.
Area of Science:
- Pediatric Surgery
- Medical Diagnostics
- Rare Diseases
Background:
- Isolated tracheoesophageal fistula (H-TOF) is a rare congenital anomaly.
- Diagnosis is typically made in neonates due to feeding difficulties.
- Delayed diagnosis can occur due to nonspecific or intermittent symptoms.
Observation:
- A 10-year-old presented with H-TOF, having experienced symptom resolution between ages 4 and 10.
- Symptoms recurred during an episode of bronchitis, prompting re-evaluation.
- Previous diagnostic workups were inconclusive, underscoring diagnostic challenges.
Findings:
- H-TOF diagnosis can be significantly delayed, even into adulthood.
- False-negative results from diagnostic tools are common.
- Recurrence of symptoms can aid in late diagnosis.
Implications:
- Highlights the need for vigilance in diagnosing H-TOF, especially with intermittent symptoms.
- Emphasizes potential pitfalls in clinical assessment and diagnostic imaging.
- Suggests re-evaluation may be necessary if symptoms recur or initial workup is negative.
Abstract:
Isolated tracheoesophageal fistula (H-TOF) is a rare type of tracheoesophageal anomaly and is in most cases diagnosed in the neonatal period because of choking and cyanosis during feeding. Diagnosis may be delayed even until adulthood because of nonspecific and sometimes intermittent symptoms, and because false-negative results of all diagnostic tools are not uncommon. We report a 10-year-old child with H-TOF, whose symptoms had nearly disappeared completely between the ages of 4 and 10 years. Diagnosis was only possible after the recurrence of the symptoms at the time of an episode of bronchitis, profound interrogation of the child's medical history, and questioning of the results of a former diagnostic work-up. In this article, we discuss the potential pitfalls in both clinical diagnosis and diagnostic work-up.
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