Adolescent With VACTERL Association Presents With Recurrent Pneumonia

Area of Science:

• Medical Case Report
• Pediatric Surgery
• Genetics and Rare Diseases

Background:

• VACTERL (Vertebral, Cardiac, Tracheoesophageal fistula, Renal, Limb) is a complex congenital anomaly syndrome.
• Tracheoesophageal fistula (TEF) occurs in up to 80% of VACTERL patients, but H-type TEF presents diagnostic challenges.
• Early identification of all VACTERL-associated anomalies is critical for comprehensive patient management.

Observation:

• A 15-year-old male with known VACTERL syndrome presented with recurrent pneumonia, chest pain, and asthma.
• Diagnostic evaluation revealed a previously undetected H-type tracheoesophageal fistula.
• The patient underwent successful surgical repair of the H-type TEF.

Findings:

• H-type TEF can remain undiagnosed into adolescence in patients with VACTERL syndrome.
• Clinical history and judicious use of imaging studies are vital for detecting subtle TEF.
• Delayed diagnosis of H-type TEF can lead to significant morbidity, including recurrent respiratory infections.

Implications:

• Highlights the importance of considering H-type TEF in VACTERL patients with respiratory symptoms, even at an older age.
• Emphasizes the need for advanced imaging and thorough clinical assessment in diagnosing VACTERL-associated anomalies.
• Underscores the potential for improved patient outcomes through timely diagnosis and surgical intervention for H-type TEF.