Saman Hamid, MD1, Richard R. Green, MD1, Kristen Helmick, MD1, Jesse Clanton, MD1, Perathu Kannu Rakesh Manivannan, MD2, Shawn A. Chillag, MD1 1Charleston Area Medical Center, Charleston, WV; 2WVU, Charleston, WV Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by blue sclerae, joint dislocations, scoliosis, joint laxity, and hearing loss. Gastrointestinal complications are less common but may include constipation and hernias. Segmental absence of intestinal musculature (SAIM) is a rare condition associated with impaired peristalsis and in occasionally colonic perforation. Stercoral ulcer/colitis (SC), another infrequent cause of perforation, results from fecal impaction. We present a unique case illustrating the intersection of OI, SAIM, and SC leading to colonic perforation.
Case Description/
Methods: A 46-year-old female with a known history of OI , noted as blue sclerae, hip joint replacement, deafness, scoliosis, and chronic opiate- related constipation, presented with severe crampy pain and worsening abdominal exam findings. CT imaging showed signs of colitis. Exploratory laparotomy revealed feculent peritonitis with copious amounts of liquid and solid stool. A large perforation was found in the transverse colon just past the hepatic flexure. Colon was resected and anastomosed. Pathology revealed segmental muscularis with dropout observed in the perforation area of the colon. Discussion: This case highlights a rare clinical presentation of SC, SAIM, and colonic perforation in a patient with OI. Of noted significance is while chronic constipation is a common manifestation of OI, SAIM is a rare finding not commonly seen in OI. This patient’s fecal impaction leading to perforation could be more than just from constipation. This raises the concern that SAIM could be the major underlying etiology of constipation because it leads to impaired peristalsis. This interrupted muscle wall with the thinner wall could increase the likelihood of SC and fecaloma resulting in these rare and unusual perforations. This case is only the third reported in the literature describing colonic perforation with the triad of OI, SAIM, and SC. Current literature has shown that Ehlers-Danlos Syndrome (EDS) can also cause bowel perforation, and two cases have reported SAIM with perforation in EDS. These reports raise the possibility that SAIM may be more common in cryptogenic gastrointestinal perforations because pathologic evidence of SAIM has been overlooked. This case highlights the importance of a multidisciplinary approach for patients with OI and gastrointestinal symptoms.
Figure: Abdominal CT revealed right sided colitis and distension with feces
Figure: Pathologic review found ischemic colitis with acute serositis, severely attenuated colonic wall without definitive perforation. Segmental muscularis dropout was noted in the perforation area of the colon.
Disclosures: Saman Hamid indicated no relevant financial relationships. Richard R. Green indicated no relevant financial relationships. Kristen Helmick indicated no relevant financial relationships. Jesse Clanton indicated no relevant financial relationships. Perathu Kannu Rakesh Manivannan indicated no relevant financial relationships. Shawn A. Chillag indicated no relevant financial relationships.
Saman Hamid, MD1, Richard R. Green, MD1, Kristen Helmick, MD1, Jesse Clanton, MD1, Perathu Kannu Rakesh Manivannan, MD2, Shawn A. Chillag, MD1. P2971 - A Rare Triad: Colonic Perforation in Osteogenesis Imperfecta With Segmental Absence of Intestinal Musculature and Stercoral Colitis, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
