Yanai Toshihiro, Urita Yasuhisa, Amagai Teruyoshi, Kawakami Hajime, Watayo Hiroko, Masuko Takayuki, Matsuda Satoshi, Hirai Misako, Muraji Toshihiro, Hamada Hiromi
Department of Pediatric Surgery, Ibaraki Children's Hospital, 3-3-1 Futabadai, Mito-city, Ibaraki, 311-4145, Japan.
Pediatr Surg Int. 2012 Jan;28(1):107-10. doi: 10.1007/s00383-011-3020-3.
Cloacal dysgenesis sequence (CDS) is a rare and lethal malformation. We report such a case of long-term survival, currently to 12 years of age. In the fetal period, she received a timely placement of vesico-amniotic shunt for a megabladder due to a severe urethral obstruction. Postnatally, cystostomy and colostomy were created because of no perineal opening of urethra, vagina, and anus. Anorectoplasty, construction of efferent conduit, and colostomy closure were performed at 4 years of age. Ileovaginoplasty and ileovesicostomy which was a Mitrofanoff-type of conduit, and labioplasty were performed at the age of 11 years. To the best of our knowledge, only five survivors with CDS over 1 year of age have been reported.
泄殖腔发育不全序列征（CDS）是一种罕见的致命性畸形。我们报告了这样一例长期存活的病例，目前患儿已12岁。胎儿期，由于严重尿道梗阻，她因巨大膀胱及时接受了膀胱羊膜分流术。出生后，由于尿道、阴道和肛门均无会阴开口，进行了膀胱造瘘术和结肠造口术。4岁时进行了肛门成形术、输出管道构建和结肠造口闭合术。11岁时进行了回肠阴道成形术、回肠膀胱造瘘术（一种Mitrofanoff型管道）和阴唇成形术。据我们所知，仅报道过5例年龄超过1岁的CDS幸存者。
