両側膀胱尿管逆流症を伴ったRubinstein-Taybi症候群の1例

Abstract

The case was in a 7-month-old boy. Rubinstein-Taybi syndrome was diagnosed from the broad halluces and the characteristic physiognomy noticed since birth. He was brought to us at 7 months of age with fever as the chief complaint. Voiding cystourethrogram showed bilateral vesicoureteral reflux. The testis was palpable in the inguinal canal on either side, but could not be brought to the scrotum. No abnormalities were detected in the penis. From the above findings, he was diagnosed to have bilateral 4th degree vesicoureteral reflux and undescended testes as complicating Rubinstein-Taybi syndrome. The condition was treated by bilateral anti-reflux repair and bilateral orchidopexy at 8 months of age. There has been no recurrence of vesicoureteral reflux for 3 years. A brief discussion was made about the urological complications of Rubinstein-Taybi syndrome.