Esophageal diverticulum in an infant with Down's syndrome and type III esophageal atresia

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Down syndrome is associated with various congenital anomalies.
• Esophageal atresia and tracheoesophageal fistula are known neonatal surgical emergencies.
• Esophageal diverticula are rare, particularly in the cervical region of infants.

Observation:

• An 18-month-old infant with Down syndrome presented with symptoms attributed to a cervical esophageal diverticulum (ED).
• The infant had a history of successful surgical repair for esophageal atresia and a distal tracheoesophageal fistula during the newborn period.
• The etiology of the ED was unclear, with no apparent link to prior surgical interventions or esophageal trauma.

Findings:

• A symptomatic cervical esophageal diverticulum was identified in an infant with Down syndrome.
• The esophageal diverticulum was surgically resected via a cervical approach.
• The case highlights a rare presentation of esophageal diverticulum in a pediatric patient with a history of complex esophageal anomalies.

Implications:

• This case expands the understanding of potential gastrointestinal complications in infants with Down syndrome.
• It underscores the importance of considering rare esophageal anomalies in the differential diagnosis of pediatric feeding and swallowing difficulties.
• Successful surgical resection of cervical esophageal diverticula is feasible and can resolve symptoms.