Marshall’s Syndrome in pediatric practice (challenges in diagnosis)

Relevance . According to some authors, the prevalence of Marshall syndrome in the pediatric population is unknown. The patients with PFAFA syndrome can be mistakenly follow up within the group of frequently ill children. The diagnosis is largely based on the knowledge of the main clinical symptoms of the disease, described by G. S. Marshall et al. (1987).In the last time, hereditary autoinflammatory diseases are in the focus of research and practical interests of clinicians. The nature of the PFAFA syndrome is associated with cytokine dysfunction and dysregulation of the inflammasome, with allow it to be, classified as an autoinflammatory syndrome the disease is triggered by genetically determined dysregulation of congenital immunity associated with excessive production of inflammation mediators (IL-1, TNFα, IL-6, IL-12, etc.) Material and methods. An analysis of the scientific medical literature on PFAFA syndrome (Marshall syndrome) and clinical case, of child with Marshall syndrome is presented. Results. Our clinical example illustrates the problem of late diagnosis of PFAFA syndrome. In now time diagnosis of the disease is based on clinical criteria (periodiс fever, aphthous stomatitis, pharyngitis and cervical lymphadenitis) and new criteria are the necessary. The etiology and pathogenesis of the disease have not been definitive established