Severe Chronic Enteropathy Associated with SLCO2A1 Mutation in a Male Child Complicated by Extensive Jejunal Strictures and Perforation: A Case Report

Background Chronic enteropathy associated with SLCO2A1 (CEAS) is a rare hereditary disorder characterized by multiple small-bowel ulcerations caused by impaired prostaglandin transport. The disease predominantly affects female patients and usually follows an indolent course. Severe complications requiring surgical intervention are uncommon, particularly in male patients. Case presentation We report a male child with genetically confirmed CEAS who developed progressive jejunal strictures complicated by capsule retention and bowel perforation. Initially diagnosed at 6 years of age after capsule endoscopy revealed multiple small-bowel erosions, the patient underwent stricturoplasty at 10 years due to capsule retention. At 14 years of age, he presented with worsening abdominal pain, and imaging demonstrated a jejunal microperforation. Exploratory laparotomy revealed multiple tight strictures involving approximately 1 meter of jejunum with an associated perforation, necessitating segmental resection and primary anastomosis. Histopathologic examination showed submucosal fibrosis, ischemic mucosal changes, and acute serositis. The patient recovered uneventfully and remained clinically stable at follow-up. Conclusions This case illustrates a rare and aggressive phenotype of CEAS in a male patient, highlighting the potential for progressive stricturing disease and life-threatening complications. Early recognition, cautious use of capsule endoscopy, and close surveillance are essential in managing patients with SLCO2A1-associated enteropathy.