Rare urogenital malformation with prune belly syndrome in a newborn female: A case report

Introduction

Prune Belly syndrome (PBS) is a rare congenital anomaly almost exclusive to males. It includes a triad of urinary tract abnormality, lack of abdominal muscles, and cryptorchidism. Urorectal septum malformation sequence (URSMS) is an even more rare congenital anomaly defined by the presence of ambiguous genitalia, absent perineal openings, and lumbosacral abnormalities. The association of PBS and elements of URSMS in a female patient is extremely rare.

Case presentation

A female newborn was born at 31 weeks of gestation by vaginal delivery to a multipara 23-year-old woman, who smoked one pack of cigarettes per day during the pregnancy. A prenatal ultrasound done at 25 weeks of gestation showed a cyst in the abdominal cavity, but further evaluation did not occur. Apgar scores were 7 and 7 at 1 and 5 minutes, respectively, and the patient was intubated due to respiratory distress. The initial physical exam revealed global hypotonia, a distended abdomen with deficient abdominal musculature, ambiguous genitalia, and an imperforate anus. With a provisional diagnosis of PBS the patient was transported to our center. An abdominal ultrasound (US) done on the first day of life (DOL) showed a 13.8x 5.7 × 8.8cm cystic abdominal mass, and dilated ureters but no hydronephrosis. We placed a percutaneous suprapubic catheter on DOL1 and took her to the operating room on DOL6 for an exploratory laparotomy plus colostomy. We found the bladder and the uterus fussed together. The colon was seen ending in the fused uterus/vagina, but there was no meconium in the lumen of the bladder. We transected the colon, created a colostomy with the proximal end, and drained the distal end with a Malecot tube. Further postoperative work-up revealed several other anomalies including bilateral intraventricular hemorrhages and polydactyly. Due to refractory ascites and worsening pulmonary hypertension her respiratory requirements continued to increase. Due to the multiple comorbidities, the family decided to withdraw care at the age of 51 days.

Conclusion

The prognosis of PBS with URSMS features in females is poor. Early diagnosis is critical to provide appropriate family counselling.