Backgroud: VEO-IBD represents a unique and growing subset of patients with inflammatory bowel disease (IBD). Some VEO-IBD patients present with immunodeficiency and possess loss of function genetic mutations involving immune pathways that cause their IBD. A search for Mendelian causes of IBD is likely most beneficial when the presentation involves extra-intestinal autoimmunity or involves intestinal histopathology that is atypical for IBD. A previously healthy 7-month-old male infant, with no family history of consanguinity presented with profuse bloody diarrhea and associated protein loss. VEO-IBD was suspected. He progressed to small bowel obstruction that requires two intestinal resections. Histopathology showed a necrotizing vasculitis suggesting PAN. He was treated with methylprednisolone, cyclophosfamide and then mycophenolate with a good clinical response. Invitae Primary Immunodeficiency Panel and then whole exome trio sequencing performed by Dr. Kotlarz group, did not report any mutations suggesting VEO-IBD.
Case report
Case report
Conclusions: PAN should be consider in children with a suspicion of VEO – IBD as a differential diagnosis. Our understanding of necrotizing vasculitis has evolved over time. In addition to PAN and ANCA –associated vasculitis, a broad range of diseases is now recognized with different etiopathogenesis such as monogenetic diseases: DADA2, familiar Mediterranean fever, SAVI , RAG1 or RAG2 and TAP deficiency . In our patient, we did not find any mutation of VEO-IBD nor other secondary necrotizing vaculitis. The sequencing results of this patient are been frequently re – assessed by the International VEO-IBD Consortium.