Challenges in Diagnosis and Management of Pneumoperitoneum Associated with Pneumatosis Cystoides Intestinalis in Children: A Systematic Review

Background/Objectives: Pneumatosis cystoides intestinalis (PCI) is a rare condition in children characterized by gas-filled cysts in the intestinal wall. The presence of pneumoperitoneum poses significant diagnostic and therapeutic challenges, often mimicking gastrointestinal perforation. This systematic review aims to summarize the existing evidence on PCI-associated pneumoperitoneum in children. Methods: A systematic literature search was conducted in PubMed/Medline for articles published from January 1972 to March 2025. Studies involving patients ≤16 years old with PCI-related pneumoperitoneum and providing information on clinical presentation, diagnosis, treatment, and outcomes were included. Data extraction and study selection were independently performed by two reviewers in accordance with PRISMA guidelines. Results: Out of 209 articles initially identified, 23 studies comprising 95 pediatric cases (age range: 4 months–14 years) were included. The majority had underlying conditions such as malignancies, autoimmune disorders, or gastrointestinal motility issues and were often treated with corticosteroids and/or immunosuppressants. Most cases were incidentally diagnosed through radiographic imaging. Conservative treatment (bowel rest, antibiotics, parenteral nutrition) was applied in 85% of cases, while surgical intervention occurred in 11%. Only three cases had confirmed intestinal perforation. All patients experienced resolution of PCI; however, 20 died due to unrelated underlying diseases. Conclusion: Despite the case heterogeneity of this review, PCI-related pneumoperitoneum in children is an uncommon but clinically important entity, particularly in immunocompromised patients, that may lead to misdiagnosis and unnecessary surgery. Conservative management is effective in most cases, and clinical findings should guide treatment decisions. Increased awareness among pediatricians and surgeons is crucial to avoid overtreatment.