EC Paediatrics

Background: Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital anomaly characterized by the classical triad of deficient or absent abdominal wall musculature, urinary tract abnormalities, and bilateral cryptorchidism. The syndrome predominantly affects males and is associated with a wide spectrum of genitourinary, gastrointestinal, musculoskeletal, and cardiopulmonary anomalies. The coexistence of PBS with anorectal malformation (ARM) is uncommon and represents a significant surgical and neonatal challenge. The occurrence of this rare association in one twin while the co-twin remains healthy and phenotypically normal makes the condition even more unusual and clinically significant.

Case Presentation: We present a rare case of a male neonate born as part of a twin pregnancy who was diagnosed with Prune Belly Syndrome associated with anorectal malformation. The co-twin was completely healthy with no congenital anomalies. The affected neonate presented shortly after birth with failure to pass meconium since birth, wrinkled and lax abdominal wall musculature, absent anal opening, and features suggestive of urinary tract involvement. Clinical examination and radiological investigations supported the diagnosis of PBS with ARM. The patient was admitted for stabilization and multidisciplinary management involving neonatology, pediatric surgery, and urology teams. Initial management included supportive neonatal care, fluid management, decompression, and evaluation for associated anomalies. Surgical planning was performed according to the patient’s clinical status and associated congenital abnormalities. The rarity of this combination posed diagnostic and therapeutic challenges and required coordinated multidisciplinary care.

Conclusion: The association of Prune Belly Syndrome with anorectal malformation is rare and may present with significant morbidity during the neonatal period. Early diagnosis, thorough evaluation for associated anomalies, and prompt multidisciplinary intervention are essential for improving patient outcomes. Reporting such rare presentations contributes valuable information to the existing literature and increases awareness among clinicians regarding the possible coexistence of gastrointestinal and genitourinary congenital anomalies in neonates. This case also highlights the importance of careful neonatal assessment in twin pregnancies, even when the co-twin appears completely normal.

Keywords: Prune Belly Syndrome; Eagle-Barrett Syndrome; Anorectal Malformation; Neonate; Twin Pregnancy; Congenital Anomalies; Pediatric Surgery

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