Wiskott-Aldrich Syndrome With Severe Thrombocytopenia and Hemorrhagic Manifestations: A Case Report

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by the association of thrombocytopenia with microplatelets, eczema, and immune dysfunction, with a highly variable clinical presentation that may include severe hemorrhagic and infectious manifestations in early childhood. We report the case of an infant referred for evaluation of a hemorrhagic syndrome associated with eczema, in whom laboratory investigations revealed severe thrombocytopenia. The clinical course was complicated by a cerebral hemorrhage. The patient was managed with supportive measures, including intravenous immunoglobulin therapy and antibiotic prophylaxis. Despite treatment, thrombocytopenia persisted and required repeated platelet transfusions. Immunosuppressive therapy with corticosteroids and ciclosporin was introduced. This case highlights the importance of early recognition of WAS in infants presenting with thrombocytopenia and eczema, and emphasizes that management remains mainly supportive, while early evaluation for hematopoietic stem cell transplantation is essential to improve prognosis.