INFLAMMATORY POLYPS WITH EBV‐RELATED LYMPHOPROLIFERATVE DISEASE IN A CHILD WITH IPEX SYNDROME

Abstract

Background: IPEX Syndrome (Immune Dysregulation, Polyedocrinopathy and Enteropathy, X-linked) is caused by mutation in the FOXP3 gene. Autoimmune enteropathy has been reported and contributes to the associated failure to thrive. Immunomodulatory agents including cyclosporine have been successfully used in selected patients. Inflammatory polyps may complicate chronic colitis and may give rise to symptoms including bleeding and abdominal pain. Case Report: A 13 yr old Caucasian male presented with a long-standing history of abdominal pain, gastrointestinal hemorrhage and iron deficiency anemia (Hb 10.8 g/dL, MCV61.9fL, RDW 23.5, serum Fe 4 mcg/dL), he had been treated with FK506 (5.9 ng/mL range 3.9 to 9.0 from 11/97 to present) and IVIG. Upon enteroscopy, he was found to have active Candida esophagitis and chronic, focally active gastritis. Colonoscopy showed chronic active pancolitis with sparing of the transverse colon, severe colitis in the sigmoid, rectosigmoid colon with numerous inflammatory polyps which on biopsy - polypectomy were found to have prominent lamina propria expansion with acute and chronic inflammatory cells including a marked lymphocytoplasmacytic infiltrate. Immunophenotypic staining showed admixed B-cells (CD20+) and T-cells (CD3+), and in-situ hybridization revealed prominent EBV-positive lymphoid cells. The patient had partial symptomatic relief following multiple polypectomies during the initial colonoscopy. Mesalamine and decreased immunomodulatory therapy are being attempted to improve the colitis and inflammatory polyposis, respectively. Conclusion: This is the first reported development of EBV-related inflammatory polyposis complicating chronic colitis in a child with IPEX Syndrome, this complication has to be borne in mind when monitoring the long term effects of immunomodulatory therapy in these and other immunosuppressed patients.