Survival in a neonate with complete urorectal septum malformation sequence after fetal vesico-amniotic shunting for a prominently dilated cloaca.
Complete urorectal septum malformation sequence (URSMS) is usually a lethal anomaly that is characterized by urethral obstruction, imperforate anus, ambiguous genitalia, renal agenesis or dysplasia, and mullerian duct maldevelopment. This anomaly is thought to be caused by the cessation of urorectal septum migration toward the caudal cloacal membrane. Teratogenic factors or a genetic abnormality is postulated as the etiology. To date, only 4 patients with URSMS have survived the neonatal period; however, 2 of these infants died before the age of 1 year. We report the survival in a case with complete URSMS who had moderate pulmonary hypoplasia and preserved left renal function. The cloacal remnant was dilated more than expected because the wall of the muscle layer was torn, perhaps in early fetal life, and timely placement of vesico-amniotic shunts prevented severe pulmonary hypoplasia caused by oligohydramnios.
Kanamori
Yutaka
Y
Department of Pediatric Surgery, Tokyo University Hospital, Tokyo, Japan. KANAMORI-PSU@h.u-tokyo.ac.jp
Iwanaka
Tadashi
T
Nakahara
Saori
S
Kawashima
Hiroshi
H
Komura
Makoto
M
Sugiyama
Masahiko
M
Kamei
Yoshimasa
Y
Hyodo
Hironobu
H
Yamaguchi
Shun-ichi
S
Kohzuma
Shiro
S
Taketani
Yuji
Y
Goishi
Keiji
K
Ishiguro
Akio
A
Tsuchida
Shinya
S
Takamizawa
Masaru
M
Igarashi
Takashi
T
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery*; D001006:Anus, Imperforate / Q000175:diagnosis / Q000601:surgery*; D002988:Cloaca / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000151:congenital / Q000175:diagnosis / Q000601:surgery*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D012007:Rectum / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D014524:Urethral Obstruction / Q000175:diagnosis / Q000601:surgery*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000601:surgery*; D055815:Young Adult