An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to colchicine

Abstract

Previous studies have suggested that inflammatory bowel disease is particulary frequent and severe in familial Mediterranean fever (FMF) families. An 8-month-old boy was admitted to our hospital with chronic bloody diarrhea, failure to thrive and high-grade fever. He was diagnosed as Crohn's disease (CD) based on clinical, laboratory and histological findings and, corticosteroid therapy was started. The patient did not respond to intensive medical therapy including intravenous corticosteroid, mesalazine, azathioprine, intravenous cyclosporine and enteral feeding. MEFV gene mutation analysis revealed homozygous M694V mutation. In addition to azathioprine and cyclosporine therapy, with the diagnosis of FMF, colchicine therapy was started and partial remission was observed within 2 weeks. To the best of our knowledge, this is the first report of association of CD and FMF in an infant. In cases of CD resistant to medical therapy, possibility of underlying FMF should be considered, especially in countries where FMF is prevalent.