Caudal Duplication Syndrome: A Case Report of Challenging Imaging Findings and Management

Abstract

Caudal duplication syndrome is a rare congenital disease caused by duplication of cloaca and notochord embryonic structures in various forms. The estimated prevalence of this syndrome is 1 per 100,000 births. A range of anomalies is observed in urinary and gastrointestinal tractsas well as in skeletal and neural structures of the spine and even limbs of these patients. Various factors such as genetic disorders and conjoined twinning have been mentioned in etiology of the disease. We introduce a case of this rare disease referred to our center for imaging asan infant with increased soft tissue in perineumwithout excretion of meconium from birth but with evidence of duplication in the genitourinary system (vagina and urethra) and gastrointestinal tract (rectum and colon) thatwas subject to reconstructive surgery.