Challenges in diagnosing IBD-like intestinal lesions in young children

Among inflammatory bowel diseases (IBD) with very early onset, particularly in children under two years of age (Infantile Form IBD), monogenic IBD-like disorders account for a significant proportion — up to 35%. Most of these conditions are associated with congenital immunodeficiencies. Our research also suggests a possible link between IBD-like intestinal mucosal lesions and certain congenital gastrointestinal malformations (such as neuropathy and myopathy) as well as severe viral infections, including COVID-19. Aim - using the example of a clinical case, to show the phenotypic features, difficulties of diagnosis and treatment of CKD-like diseases in young children. This article discusses the characteristics of IBD-like intestinal lesions associated with other diseases in young children, based on an examination of 10 patients. Among them, six had primary immunodeficiency (including three with genetically confirmed monogenic immune defects), two had congenital gastrointestinal malformations (neuro-muscular dysplasia and primary ileocecal valve insufficiency), and two had a history of virus-identified coronavirus infection (COVID-19) - post-COVID syndrome. Additionally, we describe a clinical case of an IBD-like (Crohn’s disease-like) intestinal lesion in the context of a genetic predisposition caused by a pathogenic NOD2 mutation. Conclusions. IBD-like intestinal lesions in young children, particularly in monogenic IBD-like diseases, almost always present with a phenotype similar to classic IBD. Therefore, the diagnosis and management of very early-onset IBD, especially in infantile-onset cases, require a personalized approach. This includes the involvement of a multidisciplinary team of specialists, comprehensive immunological assessment, and a careful, individualized treatment strategy for young children presenting with an IBD-like phenotype. The study adhered to the Helsinki Declaration principle. Authors report no conflicts of interest.