Congenital perineal hernia: a systematic review of case reports

Purpose: The purpose of this study is to systematically review the literature to evaluate the diagnostic methods, associated defects, treatment approaches, and outcomes of congenital perineal hernia. Methods & results: We searched PubMed and Google Scholar from inception until January 7, 2024, to find relevant articles on congenital perineal hernia. A total of 87 articles were obtained which were screened based on eligibility criteria yielding a total of 12 documented cases that were summarized in a table. Case description: We also present two cases of congenital perineal hernia in two siblings. A 28-day-old full-term infant presented with respiratory distress and pneumonia. Examination revealed a reducible swelling in the buttock. Imaging confirmed congenital diaphragmatic and perineal hernia. Emergency surgical correction of the diaphragmatic hernia was performed, but the infant’s condition worsened, leading to death 9 days after surgery due to sepsis and respiratory arrest. A 2.5-month-old infant presented with protrusion in the buttocks, irritability, and breathing difficulties. Examination revealed a reducible congenital perineal hernia. Imaging revealed herniation of the intestinal loops through a pelvic muscle defect. Although surgery was offered, the parents chose conservative management, and the patient remained asymptomatic at 4 months of age. Conclusions: It is important to consider the possibility of congenital perineal hernia when encountering a reducible swelling in the buttock area. Our findings emphasize the need for individualized care based on case-specific attributes and highlight the complexity of congenital perineal hernias. © The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature 2024.