Spontaneous Gallbladder Perforation in a Patient With Osteogenesis Imperfecta Type III: A Rare Case Report.

Abstract

Aim: Osteogenesis imperfecta (OI), also known as brittle bone disease, is an inherited connective tissue disorder (CTD) characterized by recurrent fractures, low bone mass, skeletal deformity, and variable short stature. Gallbladder perforation (GBP) is a rare but serious complication of acute cholecystitis, associated with high morbidity and mortality due to diagnostic delays in both calculous and acalculous cases. This case highlights the importance of maintaining a high index of suspicion for spontaneous ischemic GBP in patients with CTDs such as OI Type III.

Case presentation: A 20-year-old woman with severe OI type III presented to the emergency department with a two-day history of abdominal pain and distension. Abdominal computed tomography revealed free intraperitoneal air anterior to the liver and adjacent to the falciform ligament, which was suggestive of GBP. No gallstones or sludge were identified within the gallbladder lumen. An emergent open cholecystectomy was performed. Intraoperative findings revealed a concealed perforation at the gallbladder fundus. Due to dense adhesions and the inability to achieve the critical view of safety, a partial cholecystectomy was performed to reduce the risk of biliary and vascular injury.

Results: OI poses significant clinical challenges, including abnormal coagulation, airway obstruction, cardiovascular complications, and delayed wound healing. The patient recovered without complications and was discharged on the seventh postoperative day, remaining asymptomatic during the three-month follow-up period.

Conclusions: This case demonstrates that GBP, though rare, should be considered a potential complication in patients with CTDs such as OI Type III. Early recognition and appropriate management are crucial for improving clinical outcomes.