Prune perineum syndrome: an extremely rare congenital malformation – a case report emphasizing diagnostic challenges, limited therapeutic consensus, and fatal outcome

Background: Prune perineum syndrome (PPS) is an extremely rare congenital malformation characterized by a large, prune-like perineal mass associated with complex anorectal, genitourinary, and sacrococcygeal anomalies. Recent literature suggests that survival is possible with timely diagnosis and staged reconstructive surgery. Case presentation: We report an infant born with a large, redundant, prune-like perineal mass, an absent anal opening, ambiguous external genitalia, and passage of urine and fecal material through a single perineal opening. Referral was delayed due to financial and logistical limitations. Upon admission at 2 months of age, examination demonstrated a massive, wrinkled perineal mass with a large cavity draining urine and stool, no anal opening, poorly differentiated genitalia, and a non-palpable coccyx. Ultrasonography demonstrated bilateral hydronephrosis. Magnetic resonance imaging (MRI) revealed bowel loops herniating into a large perineal defect and dysplastic pelvic structures, findings consistent with PPS. The condition was misdiagnosed as a cloacal malformation, and the patient underwent a double-barrel colostomy for bowel diversion. Examination under anesthesia demonstrated a large perineal cavity containing ureteric openings and a communication with the bowel. The infant later developed recurrent infections and died at home at 6 months of age, before definitive reconstruction. Discussion: PPS represents one of the rarest variants of anorectal malformations. Diagnosis is challenging. MRI plays a critical role in anatomical delineation and surgical planning. Survival depends on early recognition, multidisciplinary management, and the availability of specialized reconstructive surgery, all of which remain limited in low-resource settings. Conclusion: This case highlights the challenges associated with PPS in resource-constrained environments. Increased awareness, early referral, improved imaging access, and reconstructive services are essential for the survival of affected children.