Atypical presacral masses in Currarino syndrome: a case series

Abstract Introduction Currarino syndrome is a rare congenital disorder classically defined by the triad of sacral anomaly, anorectal malformation, and a presacral mass. While anterior meningoceles and teratomas are the most commonly reported lesions, an expanding body of literature suggests a broader spectrum of presacral pathology. We present three cases from our institution that expand the phenotypic range of presacral masses associated with Currarino syndrome, including lesions not previously well described in this population. Case presentation Three cases are presented. Final pathologic diagnoses included myxopapillary ependymoma, mature cystic teratoma, and neuroendocrine tumor arising within a teratoma. Conclusion These cases highlight the considerable heterogeneity of presacral lesions in Currarino syndrome and identify two underrecognized or previously unreported tumor types: myxopapillary ependymoma and neuroendocrine tumor. Surgical management must be individualized and often requires a multidisciplinary approach. Future studies will further clarify genotype–phenotype relationships and improve diagnostic and management strategies in this complex syndrome. Established facts Currarino syndrome is a rare congenital disorder classically defined by the triad of sacral anomaly, anorectal malformation, and a presacral mass. Presacral masses are most commonly anterior meningoceles and teratomas. A wider spectrum of lesions has been reported, underscoring the complexity of the syndrome and the importance of thorough evaluation and management of presacral pathology. Novel insights In Case 1, we report a previously undescribed association of myxopapillary ependymoma with a retrorectal teratoma in the setting of Currarino syndrome. Case 2 illustrates the potential for significant enlargement of presacral meningoceles with associated teratomas with a rare instance of prenatal diagnosis by ultrasound. Case 3 expands the spectrum of presacral pathology in Currarino syndrome by demonstrating a neuroendocrine tumor.