The Currarino triad: the variable expression.

Background: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 region and characterized by an anorectal malformation, sacrococcygeal defect, and a presacral mass. Purpose: The aim of the study was to report the highly variable expression in patients with the Currarino triad and provide a guideline for the clinician if the Currarino triad is suspected. Methods: We examined the symptoms and associated anomalies in 5 families with the Currarino triad by retrospective chart review. Results: Fifteen patients had Currarino-associated anomalies. This included anorectal malformation in 9, a presacral mass in 9, and a sacral bone defect in 15. Tethered cord was present in 4 patients. There were 12 symptomatic patients. Constipation was diagnosed in all of them. Other symptoms included recurrent urinary tract infections caused by bladder dysfunction in 5, abnormal gait in 1, and another patient who initially presented with meningitis. Two carriers of the genetic defect had no symptoms or anomalies. Conclusions: The phenotypical expression of the gene mutations causing the Currarino triad can vary from asymptomatic to patients presenting with the complete triad. Presence of a crescent-shaped defect of the sacral bone may be used as initial screening method. As the penetration of the genetic defect is variable, DNA screening is the only method to fully exclude the triad.