An autoimmune lymphoproliferative syndrome initially diagnosed as Evans syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare childhood disorder characterized by chronic non-malignant lymphoproliferation and autoimmunity. Patients with ALPS frequently exhibit episodic and intermittent, severe autoimmune- induced hemolytic anemia, thrombocytopenia or combined cytopenias. The co-occurrence of immune-mediated cytopenias, autoimmune thrombocytopenia and autoimmune hemolytic anemia is also known as Evans syndrome. This report describes a child who presented with Evans syndrome symptoms and who, after the detection of increased percentage of double negative T cell population in the peripheral blood, was diagnosed as ALPS. He received several courses of treatment including glucocorticoids, cyclosporine A (Cs A), and intravenous immunoglobulin (IVIG) without any clinical benefit and was treated with the antimalarial drug Fansidar®. With administration of Fansidar® (half tablet per week; containing 250 mg of pyrimethamine and 12.5 mg of sulfadoxine) combined with immunosuppressive drugs, clinical status and laboratory findings temporarily improved. After two months, the patient underwent laparoscopic splenectomy because of worsening of thrombocytopenia refractory to the treatment. There was a transient beneficial effect from splenectomy. We were unable to stop immunosuppressive therapy and Fansidar®; however, this combined therapy was successful in decreasing the number of hospitalizations and controlled his clinical symptoms more effectively for six months. Unfortunately, he was admitted to a regional hospital with high fever and died at the age of three.