Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings.

Azhar Farooqui,Alaa Alaqeel,Zakaria Habib

doi:10.1155/2014/746323

Abstract

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

Highlights

Prune belly syndrome (PBS), called Eagle-Barrett syndrome or abdominal muscular deficiency syndrome, is a rare congenital disorder affecting 1 : 26,000 to 1 : 40,000 births, with a 97% occurrence in the male gender [1, 2]
Similar congenital malformations can be appreciated in females; with the absence of bilateral cryptorchidism, by definition they do not full fill the classic triad [3], and they are often referred to as “pseudoprunes.” On the other hand, urorectal septum malformation sequence (URSM) is associated with ambiguous genitalia, absent perineal openings, and lumbosacral abnormalities
We report an extremely rare presentation of a female infant presenting as a case of prune belly syndrome with an unusual association with Urorectal septum malformation sequence (URSM)

Summary

Introduction

Prune belly syndrome (PBS), called Eagle-Barrett syndrome or abdominal muscular deficiency syndrome, is a rare congenital disorder affecting 1 : 26,000 to 1 : 40,000 births, with a 97% occurrence in the male gender [1, 2]. The disorder in males is characterised by a triad of deficient abdominal muscle development, bilateral cryptorchidism, and a malformed urinary tract. Similar congenital malformations can be appreciated in females; with the absence of bilateral cryptorchidism, by definition they do not full fill the classic triad [3], and they are often referred to as “pseudoprunes.” On the other hand, urorectal septum malformation sequence (URSM) is associated with ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities.

Case Report

Findings

Discussion