Persistent cloaca - “Human bird” malformation

Abstract

Objective: Persistent cloaca is a rare, early stage developmental malformation and one of the most complex developmental disorders of the female anorectal, vaginal and urogenital tract, with an incidence of 1:250,000 newborns. It is defined as a confluence of the rectum, vagina, and urethra into a single common channel. We present a case of persistent cloaca that was detected in a 24th gestational week of pregnancy. Material and Methods: A 23-year-old pregnant patient underwent a routine ultrasound test that showed transient fetal ascites. The MRI confirmed umbilical cord with two blood vessels, distended duodenum, colon and bladder and mild hydronephrosis. The medical ethics committee approved termination of the pregnancy. After performing a feticide, induced abortion was done. Results: Autopsy revealed ambiguous genitalia with absence of the labia folds and clitoris. There was a stenosis of the distal part of the duodenum and the terminal portion of sigmoid colon was opened into the uterine fundus. The uterus was dilated and anteriorly dislocated, situated on the left side of the urinary bladder. The neck of the bladder and the vagina were fused, creating a single common channel with a single perineal opening. The urethra was absent. The histological examination confirmed two vessel umbilical cord and immaturity of the tissues. Conclusions: Because of the complexity of this multisystemic, anatomic variation and presence of persistent cloaca, sometimes it is difficult to make a correct diagnosis. This rare developmental malformation should always be considered as one of the differential diagnosis of urinary tract malformations, dilated bowel loops or cystic pelvic masses.