Currarino Syndrome: A Silent Challenger to the Hirschsprung Paradigm

Currarino Syndrome (CS) is a rare congenital anomaly defined by a triad of anorectal malformations, presacral mass, and sacral bony defects. Although it typically presents in early childhood, adolescent cases are increasingly recognised but often missed. Due to significant overlap in clinical features, CS may be mistaken for more prevalent conditions such as Hirschsprung’s Disease (HD). This diagnostic ambiguity often leads to prolonged evaluation, repeated testing, higher healthcare costs, and patient dissatisfaction. We present the case of an 18-year-old female with a 12-year history of severe, refractory constipation who was initially evaluated for HD. Cross-sectional imaging ultimately revealed sacral agenesis, a presacral mass, and a tethered cord, leading to a definitive diagnosis of CS. The patient subsequently underwent neurosurgical detethering and mass excision, resulting in substantial symptomatic relief. This case underscores the need to maintain a high index of suspicion for CS in adolescent patients with unexplained constipation, particularly when initial investigations are inconclusive. Early recognition is essential to ensure appropriate management and to avoid the burden of delayed diagnosis.