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.