DOI: 10.11648/j.sdpediatr.20260101.12 ISSN:

Prune Belly Syndrome: A Case Series and Literature Review

Kashif Shahzad, Saima Ali, Naveera Waseem, Affan Mudassar, Raghad Alshantti, Karmel AlKhaldy, Shehla Chaudhary, Masooma Chaudhary
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Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by the classical triad of deficient abdominal wall musculature, urinary tract anomalies, and bilateral cryptorchidism in males. The condition is associated with significant morbidity due to urinary tract dysfunction, recurrent infections, and potential renal impairment. We report two siblings with PBS or a pseudo-PBS phenotype, highlighting severe urinary tract involvement and a possible familial predisposition. The first case was a preterm male neonate delivered at 34 weeks of gestation by cesarean section after antenatal ultrasonography demonstrated bilateral hydronephrosis. He subsequently developed recurrent vomiting, progressive abdominal distension, urinary retention, high-grade bilateral vesicoureteral reflux, and a neurogenic bladder. His clinical course was complicated by Burkholderia cepacia sepsis, thrombocytopenia, electrolyte disturbances, hyperammonemia, and respiratory distress requiring intensive care. Pediatric urology recommended vesicostomy and genetic evaluation. The second case was a female sibling with a prenatal diagnosis of a distended bladder and bilateral hydronephroureter who had a pseudo-PBS phenotype and developed severe urinary tract disease, recurrent infections, feeding intolerance, meningitis, and progressive renal failure, ultimately resulting in death at 3.9 years of age. These cases emphasize the importance of early recognition of PBS, particularly when antenatal urinary tract abnormalities and a positive family history are present, and highlight the need for multidisciplinary management, genetic counseling, and long-term renal and urological follow-up. A preterm male neonate was delivered at 34 weeks of gestation via cesarean section. Antenatal ultrasonography revealed bilateral hydronephrosis. The patient had a significant family history of a sibling who had died from pseudo-prune belly syndrome. Shortly after birth, he developed recurrent vomiting, progressive abdominal distension, and urinary retention. Radiological investigations demonstrated severe bilateral vesicoureteral reflux and a neurogenic bladder, confirming the diagnosis of PBS. During hospitalization, the infant developed sepsis caused by Burkholderia cepacia, accompanied by electrolyte disturbances and hyperammonemia, necessitating intensive care management. Treatment included broad-spectrum antibiotics, blood transfusions, ventilatory support, and close monitoring. Pediatric urology consultation recommended vesicostomy to relieve urinary obstruction and genetic testing to evaluate the possible familial basis of the disorder. This case highlights the importance of early recognition of PBS, particularly in neonates with antenatal urinary tract abnormalities and a positive family history. The occurrence of severe complications, including sepsis and metabolic derangements, underscores the need for prompt multidisciplinary intervention. Genetic counseling and evaluation should be considered in families with recurrent or related congenital anomalies to facilitate early diagnosis, guide management, and improve long-term outcomes.

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