Currarino syndrome with presacral neuroblastoma: A case report

Abstract

Introduction

Currarino syndrome is a rare congenital disorder defined by the triad of sacral anomaly, presacral mass, and anorectal malformation. Presacral masses in Currarino syndrome are typically benign developmental lesions; however, the occurrence of a presacral neuroblastoma in a patient with the complete Currarino triad has not been reported.

Case presentation

A male newborn delivered at 37 weeks of gestation after a pregnancy complicated by maternal alcohol and marijuana use was found to have an imperforate anus, bilious emesis, and abdominal distension requiring orogastric decompression and diverting colostomy. Further evaluation revealed microcephaly, a tethered spinal cord, a left multicystic dysplastic kidney, severe hypospadias with a penoscrotal fistula draining meconium, and a sacral anomaly. At five months of age, a spinal MRI identified a 2 × 1.7 × 2 cm presacral mass. A screening ultrasound (US) obtained five months earlier during a VACTERL evaluation did not identify a presacral mass, likely reflecting US's limited sensitivity for presacral lesions. Surgical excision of the mass via sacral coccygectomy and anorectoplasty revealed a poorly differentiated neuroblastoma with favorable histopathologic features and negative margins. Staging studies showed no residual or metastatic disease. No oncologic therapy was initiated. Exome sequencing did not identify pathogenic MNX1 or other clinically significant germline variants. At three years of follow-up, the patient demonstrated normal growth without tumor recurrence.

Conclusion

This case demonstrates that presacral masses in Currarino syndrome, traditionally considered benign developmental lesions, can present with a neuroblastoma. Neuroblastoma should be included in the differential diagnosis for presacral lesions in Currarino syndrome.