E48 Thinking about auto inflammatory diseases in front of a periodicity of fever in children: a case report

Abstract

Abstract Introduction Auto-inflammatory diseases (AIDs) are caused by mutations in genes involved in the regulation of innate immunity. The prototypical diseases are the hereditary recurrent fevers (HRFs), whose intermittent inflammatory manifestations are similar between the different diseases; they preferentially affect the serous membranes, skin, eyes, joints, muscles and sometimes the central nervous system. Their onset is often early in life. Objectives To think of an auto inflammatory disease in front of a periodic fever in children Method We report the case of a child with periodic fever. Results A 4-year-old boy with no particular family or personal history, who presented at the age of 1 year with episodes of high fever without evident cause lasting from 7 to 14 days, with a monthly recurrence. There was associated pharyngitis, bilateral cervical lymphadenopathy, oral aphthosis, abdominal pain, sometimes with arthralgia, vomiting, diarrhoea and skin rash. During the fever episode the inflammatory work-up is frankly positive with neutrophilic hyperleukocytosis and an elevated C-reactive protein. The duration and characteristics of the episodes are not modified by the usual antibiotic and antipyretic therapy. Viral serologies for CMV, EBV, parvovirus B19 and HIV are negative. Recurrent bacterial infections of the upper airways were ruled out in view of the periodic character, the negativity of the procalcitonin and throat swabs and the inefficiency of the antibiotic therapy during the attacks. The immune deficiency test came back normal. Autoinflammatory diseases in the absence of autoimmune signs were strongly suggested. Urinary mevalonate kinase/mevalonic acid during the episode was normal. Cyclic neutropenia was eliminated in the presence of PNN hyperleukocytosis at each episode. Genetic study of familial Mediterranean fever syndrome, cryopyrin-caps associated periodic syndrome and TRAPS syndrome came back normal. Our patient met al.l the Vanoni criteria for Marshall's syndrome. He received a single dose of prednisone 1 mg/kg which resulted in a spectacular defervescence in < 24 h and disappearance of other symptoms in a few days and their absence between attacks. This corticosteroid therapy was subsequently prescribed at each attack, which allowed rapid control and a reduction in the duration of the attacks. Discussion and conclusion The exact etiopathogenesis and diagnostic biomarkers of Marshall's disease are still unknown. It is rather a diagnosis of exclusion based mainly on clinical criteria. It is retained in our patient in view of the presence of all diagnostic criteria and the therapeutic test. There is no consensus on the treatment of Marshall's at present. Antipyretics can be used but are only partially effective. Single dose corticosteroids result in cessation of attacks; tonsillectomy is a secondary treatment option. Colchicine is promising for preventing or reducing the frequency of attacks. Marshall's syndrome is a self-limiting autoinflammatory disease of early childhood with spontaneous resolution without impact on the child's growth and development and without major sequelae in most cases within 3–5 years of onset.