Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study

Currarino syndrome (CS) is a congenital disorder caused by MNX1 gene mutation, resulting in abnormal caudal cell mass development. Clinical presentation varies from severe to mild forms. Classic triad of CS includes sacral agenesis, presacral mass, and anorectal malformation (ARM). We report a pair of monozygotic twins, both with the MNX1: c.780C>G mutation, presenting with different clinical phenotypes of Currarino syndrome (CS). Both were suspected of anorectal atresia in utero, and postnatal diagnosis confirmed CS with tethered cord syndrome (TCS). They underwent staged surgeries, with normal growth at 10 months follow-up. Additionally, a retrospective analysis of 95 CS cases diagnosed between April 2010 and April 2024 at Shanghai Xinhua Hospital was performed. Clinical, imaging, and pathological data were collected, and binary logistic regression was used to analyze the correlation between clinical factors and TCS. A literature review of twin CS cases was also conducted. Of the 95 patients, 23.2% had complete CS, and 76.8% had incomplete CS. TCS was present in 55.8% of cases. Logistic regression showed no significant correlation between age, sex, sacral deformity severity, ARM type, presacral mass, and TCS. Two previous twin CS cases were identified, both with differing phenotypes. CS exhibits phenotypic variability, and monozygotic twins with the same MNX1 mutation may present with different severities. The MNX1: c.780C>G mutation broadens the genetic spectrum of CS. TCS is common, emphasizing the need for multidisciplinary management. Surgical approaches should be personalized based on presentation.