Prune Belly Syndrome With a Full Spectrum of VACTERL and Urinoma: A Rare Trio

Erradi Mariam, Sediki Soukaina

Abstract

Prune belly syndrome (PBS), also known as Eagle–Barret syndrome, is characterized by a triad of abdominal muscle deficiency, cryptorchidism, and urogenital abnormality. The incidence of PBS is 3.8 per 100,000 live births. Association of PBS with VACTERL (Vertebral anomaly [V], Anorectal malformation [A], Cardiac malformation [C], TracheoEsophageal [TE], Renal or radial anomaly [R], and Limb anomaly [L]) is extremely rare.

We report a case of a live-born neonate with such an association, having Potter sequence and a palpable mass diagnosed as urinoma. A late preterm male neonate weighing 3.3 kg was born at 36 weeks and 2 days of gestation through normal vaginal delivery. He exhibited severe birth asphyxia and acidosis. Upon examination, facial dysmorphism and flaccid protrusion of lateral abdominal wall were noted. In addition, the neonate had imperforate anus, cryptorchidism, gluteal muscle hypoplasia, left club foot, and bilateral dislocated hips. His babygram revealed partial sacral agenesis and coiling of the nasogastric tube. A postnatal ultrasonogram revealed grossly dilated bowel loops, bilateral moderate hydroureteronephrosis with urinoma in the inferior pole of the right kidney, with bifid L5 spinous process. Despite appropriate intensive support, the neonate developed cardiopulmonary arrest at 7 hours of life and could not be revived.

Coexistence of PBS with VACTERL is rare and causes severe morbidity and mortality. Prenatal counseling and follow-up must be ensured to prevent such fatal anomalies.