| Popis: |
Introduction: Choledochal cyst is a congenital anomaly of the bile duct without associated pathology as compared to esophageal atresia, whose pathology is usually part of the VACTERL association list (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities). In addition to these core component features, patients may also have other congenital anomalies. Case presentation: A single case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, is reported for the first time. A cytogenetic study reports an apparently normal male with a 46 XY karyotype, GTG bands, 400–550 band resolution, and extended exome sequencing without alterations. Esophageal plasty, hepatic-duodenal bypass in early childhood, and resection of the evanescent testicle with fixation of the contralateral testicle were performed at one year of age. We observed a satisfactory evolution after four years and four months of follow-up. Conclusion: In this report, we present this novel case of the association of type 1 choledochal cyst (Todani), type III esophageal atresia (Ladd-Gross), evanescent testicle, and clinodactyly of both little fingers, which has not been previously reported in the literature. |
