An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence

Abstract

Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and amalformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. Thiscase report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. The patientunderwent preterm labor at the 33rd gestational week and delivered a female newborn weighing 2250 grams who died three days later due toprogressive respiratory insufficiency. To the best of our knowledge, this is the third case of an overlap between PBS and URSM in literature. Suchan overlap refers to the existence of left renal agenesis, right renal cystic dysplasia, bilateral club foot and lumbar scoliosis as well as the absenceof abdominal wall muscles, internal genital organs, urethral, vaginal and anal openings. This case report aims to remind the obstetricians aboutthe concurrent occurrence of PBS with URSM and its poor prognosis.