Introduction
Pneumoperitoneum, defined as air within the peritoneal cavity, is typically a sign of a perforation of an abdominal viscus for which emergent surgical management is indicated.1 A rare cause of pneumoperitoneum is pneumatosis cystoides intestinalis, which is characterized by subserosal or submucosal cysts of the gastrointestinal (GI) tract.2 Potential sources of gas that could lead to pneumatosis intestinalis (PI) include intraluminal gas, bacterial gas, and pulmonary gas.3-5 Previously, about 85% of pneumatosis intestinalis cases have been found to be associated with a known condition, such as mesenteric or intestinal ischemia,6 infectious etiology, collagen vascular disease (e.g., scleroderma), iatrogenic etiology (e.g., due to endoscopic procedure), medications (e.g., corticosteroids, lactulose, chemotherapeutic agents), autoimmune disease,7,8pulmonary diseases (e.g., chronic obstructive pulmonary disease and asthma),9 with the remaining being idiopathic.10 Surgical intervention is typically reserved for severe cases (e.g., involvement of pneumoperitoneum, bowel necrosis, obstruction).11
To our knowledge, no cases of PI with concurrent focal pneumatosis cystoides occurring from outside of the GI tract have been documented. Further investigation into varying presentations and pathogenesis and their associated outcomes of surgical vs. nonoperative treatment are warranted to better characterize this disease. This is a report of a 20-year-old male with a history of congenital malrotation who presented with pneumoperitoneum secondary to PI of unknown etiology, and focal diaphragmatic pneumatosis cystoides of unknown significance who underwent surgical management.