Transperineal biopsy leads to the diagnosis of genitourinary neurofibromatosis in association with a congenital malformation of the urinary tract

Objective: A case of genitourinary fibromatosis with associated anomalies is presented. Methods: Clinical evaluation included ultrasonography, urography, CT scan and MR image. Ultrasonography-guided perineal biopsy was performed with a 14-gauge Tru-cut needle. Results: Rectal examination revealed a very hard prostatic mass in the 22-year-old patient. The histological result and clinical data indicated the diagnosis of genitourinary von Recklinghausen disease. Conclusion: We report a very rare case of genitourinary neurofibromatosis associated with congenital anomalies of the urinary tract. The diagnosis was obtained with US-guided transperineal biopsy.