Síndrome de Wiskott-Aldrich: reporte de caso

Abstract

Wiskott-Aldrich Syndrome is a primary immunodeficiency linked to the X chromosome; its rare incidence is 1 - 4 cases per million male live births. The classic phenotype can lead to the development of autoimmunity, with hemolytic anemia being the most common, followed by vasculitis, and, in a lower percentage, inflammatory bowel disease and kidney diseases. This case reports on a one-year-and-three-month-old male patient diagnosed with Wiskott-Aldrich Syndrome of classic phenotype who experienced health problems since birth, including recurrent pneumonia, anemia, thrombocytopenia, and bleeding episodes. He presented to the hospital due to emesis and yellowish liquid stools with mucus, but no blood. During the physical examination, marked decompensation was observed, manifested by pallor, tachycardia, and asthenia. Paraclinical tests confirmed the presence of hemolytic anemia and thrombocytosis. Radiology studies revealed the presence of an extensive splenic infarction, adding further complications to the patient's clinical picture. Although autoimmunity and hemolytic anemia are common complications in this syndrome, its hallmark is thrombocytopenia. Therefore, it is significant that the patient presented thrombocytosis, which was a relevant factor in the development of an extensive splenic infarction that required a splenectomy for resolution.