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

Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

“…In neonates and young children, an abdomen with a wrinkled appearance should raise the suspicion of PBS, which ultrasonographic investigation of the urinary tract may confirm. 15,31 Abdominal ultrasonography, intravenous pyelography, micturating cystourethrography, X-ray, and magnetic resonance urography can be used to visualize the urinary tract. 40,41 The degree of the abdomen’s wrinkling does not appear to be correlated with the urinary tract abnormalities’ severity.…”

“…Female patients with manifestations of PBS may be referred to as “pseudoprunes” because this sex lacks the classical finding of cryptorchidism. 15 Partial PBS (sometimes referred to as pseudo-PBS, not to be confused with the female form of the syndrome) describes patients with unilateral abdominal wall deficiency and/or unilateral cryptorchidism. 41 In this group of patients, the testes usually are located in the inguinal canal.…”

The Mechanism of Prune Belly Syndrome Development: A Sonographic Sequential Assessment

“…Prune belly syndrome (Eagle-Barrett syndrome) is a rare clinical entity, characterized by partial or complete abdominal muscle absence, cryptorchidism, and urinary disorder. 2,12 Prune belly syndrome is often diagnosed prenatally by sonography or postnatally by physical examination. Children who are diagnosed with prune belly syndrome often have urinary tract infections.…”