Metastatic neuroblastoma presenting as a scrotal mass in an infant

Neuroblastoma is a common malignancy of infancy and childhood. The scrotum and paratesticular tissues are rare sites of presentation. We report the case of an infant who presented with a scrotal mass that proved to be a metastatic neuroblastoma.

A previously healthy 4-month-old boy presented with a scrotal mass. Ultrasound and surgery showed a well circumscribed, 1.2-cm nodule in the inferior scrotum, associated with dartos fascia. Intraoperative frozen section revealed a small round blue cell tumor, prompting a wider excision. Final diagnosis was poorly differentiated neuroblastoma with unfavorable histology. Further imaging revealed a large adrenal mass, with hepatic and pleural metastases.

Metastatic and primary neuroblastomas are rare causes of scrotal mass in infants and children. Treatment and prognosis depend on factors including patient age, histology and stage. Stem-cell-supported chemotherapy is the current treatment of choice for high-stage, high-risk neuroblastoma, as in this case. The differential diagnosis of pediatric scrotal neoplasms is broad, and several small round blue cell tumors can present in the scrotum and paratesticular tissues. Preoperative ultrasound of the scrotum and abdomen may assist in diagnosis and surgical planning. Intraoperative frozen section may assist in diagnosis and tissue triage.