MONOGENIC IBD: DIAGNOSTIC AND THERAPEUTIC CHALLENGES
DOI:
https://doi.org/10.52340/jecm.2025.02.19Keywords:
monogenic IBD, diagnosis, therapy, challengesAbstract
Early-onset inflammatory bowel disease (EO-IBD), especially when presenting before 6 months of age, raises a high index of suspicion for monogenic IBD. These rare, genetically driven disorders are associated with atypical presentations, including extraintestinal manifestations such as arthritis. Differentiating them from more common allergic or infectious conditions poses significant diagnostic and therapeutic challenges. We present a case of an infant with persistent hematochezia and recurrent arthritis, ultimately guiding immunologic and genetic investigation for monogenic IBD.
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