GP74 VACTERL Association: from diagnostic to treatment through a series of pitfall

Background VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. The objective of this case report is to highlight the difficulty of diagnosis and possible complication in management of complex malformation. Case presentation We present the case of a 10-weeks-old infant from twin pregnancy, born prematurely with C-section at 35 weeks of gestation, with 1890 g. There was no family history of congenital anomalies. His brother was diagnosed after birth with esophageal atresia with tracheoesophageal fistula but died on the second day of life after severe complication during surgery. Our infant with facial asymmetry and breathing problems was investigated in Pediatric ICU for poor feeding, excessive drooling of saliva, fast breathing, cough and intermittent bowel movement disorders (excessive bloating with constipation alternatively with watery stools). Based on the clinical and laboratory findings, a series of imagistic and invasive investigations (including bronchoscopy) they confirmed atrial septal defect, maintain the suspicion of tracheoesophageal fistula, but excluded Pierre-Robin syndrome and other chromosomal disorders, cystic fibrosis, GERD, congenital infections. Because of failure to thrive he was feeding with nasogastric tube. Due to bowel movement disorders he was suspected of Hirschsprung’s disease. During surgical intervention the suspected tracheoesophageal fistula was identified and resolved; also, colostomy for segmental bowel resection has been done. The histologic examination excludes congenital aganglionic megacolon, and the anal/rectal stenosis was attributed to VACTERL association. The clinical evolution was favourable with normal weight gain, but the infant underwent two more surgery (removal of the esophageal patch, due to an esophageal stenosis and stoma reversal surgery). Discussion This case illustrates even if the strict protocol for investigations are followed the clinician experience must remain the most important diagnostic clue. Despite a wide range of diagnostic options for VACTERL described in the literature the final diagnostic tool might be surgical exploration.