Chronic enteropathy associated with SLCO2A1 from North India: a rare monogenic condition mimicking Crohn's disease

Multiple chronic ulcers of the small intestine are primarily attributed to Crohn's disease. Other differential diagnoses include rare monogenic disorders caused by mutations in PLA2G4A and SLCO2A1, the latter responsible for chronic enteropathy associated with SLCO2A1 (CEAS), a condition mainly reported in Asian patients. We present the case of a 10-year-old girl from India with a 5-year history of abdominal pain, altered bowel habits and failure to gain weight. Despite multiple admissions and treatment with steroids, immunomodulators and biologics, her symptoms persisted. Exome sequencing confirmed CEAS, and radiographic imaging revealed multiple strictures in the small intestine, confirmed during laparotomy. Multiple Heineke-Mikulicz type strictureplasties were performed. This case underscores the importance of considering CEAS in patients with recurrent small intestinal ulcerations, particularly in the presence of concentric strictures, and highlights the role of genetic testing for SLCO2A1 mutations.