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.


CONCLUSIONS
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.
Morelli
G
G
Department of Urology, University of Pisa, Italy.
Mancini
P
P
Lencioni
R
R
Caramella
D
D
Giannotti
P
P
D000328:Adult; D001707:Biopsy, Needle; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000473:pathology*; D014513:Ureter / Q000002:abnormalities*; D014565:Urogenital Neoplasms / Q000150:complications / Q000473:pathology*