Discussion
This case highlights a unique presentation of pneumoperitoneum secondary to PI with concurrent focal pneumatosis cystoides. The concurrent presence of pneumatosis cystoides occurring from outside of the GI tract, the diaphragm in this case, has not been documented in the literature. This finding prompts several questions regarding the pathogenesis, diagnosis, and management of PI.
The patient’s clinical course was complicated by recurrent abdominal symptoms and multiple interventions. Despite initial surgical management of the malrotation, the patient continued to experience symptoms, necessitating further investigation and repeat procedures. The persistence of symptoms and the discovery of diaphragmatic pneumatosis cystoides suggest that the initial surgery may not have fully addressed the underlying pathophysiology. Alternatively, the waxing and waning nature of symptoms could be indicative of chronic PI. Surgical intervention remains the mainstay of treatment for PI when complications such as bowel obstruction or perforation are present.11 In this case, the decision to perform a bowel resection and resect the diaphragmatic cysts was guided by the acute nature of the presentation, despite the lack of clear perforation. The patient’s postoperative recovery was complicated by persistent symptoms, highlighting the need for a comprehensive approach to postoperative symptom management.
The etiology of PI remains idiopathic in many cases.10Our patient had no apparent underlying cause of the PI, as autoimmune disease (e.g., Crohn’s disease) and causes of barotrauma are unlikely, despite history of endoscopy and colonoscopy procedures prior to presentation. Notably, the patient had a history of Coronavirus disease 2019 (COVID-19) prior to the clinical course, raising the question of a potential association between viral infection and PI. A case of PI has been reported following COVID-19 infection with pneumonia,10 however involved different clinical and anatomic manifestations than our patient. The proposed mechanism for COVID-19-related PI involves disruption of gut flora due to viral infection. Other potential infectious associations with PI include cytomegalovirus in post-lung transplant patients,16cryptosporidiosis and human immunodeficiency virus (HIV),17 and Clostridium difficile, rotavirus, and adenovirus in children.18 An infectious cause is not likely in this patient due to his normal white blood cell count and lack of infectious signs in the pathologic studies. Additionally, the patient was not immunocompromised and did not have any risk factors for an opportunistic infection.
The significance of the diaphragmatic pneumatosis cystoides is uncertain. Abnormalities of the diaphragm were not specifically noted during his initial surgery, thus the time of onset of this cyst is unknown and could theoretically be sequelae of the pneumatosis cystoides intestinalis, which is unlikely given the negative margins of the PI. The occurrence of pneumatosis cystoides in two separate locations, the diaphragm and intestine, suggests a possible systemic/tissue predisposition to cyst formation. Collagen vascular disorders were considered but are unlikely due to the absence of characteristic clinical signs. This presentation raises the possibility of an unidentified connective tissue disorder or a rare presentation of an existing one.
An important consideration in this case is the patient’s history of congenital malrotation, which was surgically corrected prior to presenting with PI. While malrotation is most commonly diagnosed in early childhood with other concurrent anomalies, many cases have also been reported in adolescents and adults.19 PI is not a commonly reported complication after Ladd’s procedure in children,20 however limited research has investigated long-term outcomes of the Ladd’s procedure performed in adults.
This case highlights the need for further investigation into the pathogenesis and optimal management strategies for PI, particularly in atypical presentations, to improve patient outcomes and expand our understanding of this rare condition. Additionally, future studies should evaluate the long-term outcomes of Ladd’s procedure when performed in adults. Genetic and pathology studies may uncover underlying connective tissue disorders predisposing patients to cyst formation, particularly in the context of congenital malrotation. Long-term follow-up of patients with PI is essential to monitor for recurrence and manage chronic symptoms. Multidisciplinary care involving gastroenterologists, surgeons, and infectious disease specialists may improve outcomes in complex and unique cases.