ABSTRACT
Background: X-linked agammaglobulinemia, a primary immunodeficiency, can presentwith musculoskeletal manifestations. Case characteristics: A 4-year-old boy, diagnosedas systemic juvenile idiopathic arthritis at the age of 3 years and treated with biologicalagents, presented with fever, dyspnea and chest pain. Blood culture and pericardial fluidculture revealed Achromobacter xylosoxidans. Outcome: Investigation revealed normalserum ferritin but low levels of serum immunoglobulins. Further immunological work-uprevealed diagnosis of X-linked agammaglobulinemia. Child improved on antibiotic therapy;treatment with steroids and biological was discontinued. Message: Underlyingimmunodeficiency disease must be looked for in children suspected to have juvenilearthritis, more so if they develop unusual serious infection in response toimmunomodulatory therapy.
ABSTRACT
Background: Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by the presence of episodes of vascular thrombosis, recurrent fetal loss and other clinical features in the presence of antiphospholipid antibodies. The aim of the study was to analyze the clinical manifestations and immunologic profile of children presenting with APS.Methods: Authors did a retrospective case record study of patients admitted with thrombotic events between September 2013 and August 2018 and identified patients with positive antiphospholipid antibodies. Children who had clinical features of active lupus were not included.Results: The clinical and immunologic profile of 7 pediatric patients presenting with APS over 5 years from 2013 to 2018 were analysed. Symptoms secondary to vascular thrombosis were limb swelling, stroke, gangrene of toes and Budd Chiari syndrome.Conclusions:APS though rare should be considered in the differential diagnosis of children presenting with thrombotic events. They need long term anticoagulants to prevent further episodes.