Abstract
Wiskott–Aldrich syndrome (WAS) is a rare X-linked disorder characterized by thrombocytopenia, eczema, and immunodeficiency. Mutations in the WAS gene disrupt hematopoietic cell actin cytoskeletal reorganization, often leading to classic small platelets, although variants exist. We present the case of a 2-year-old boy initially misdiagnosed with immune thrombocytopenia (ITP) and concurrent cytomegalovirus (CMV) infection, despite normal platelet volume. His clinical history included persistent thrombocytopenia, fever, hepatosplenomegaly, and recurrent bleeding episodes. The patient was initially treated for presumed ITP and meningitis without improvement in platelet count following standard therapies, including intravenous immunoglobulin (IVIG). Multiple hospitalizations and treatments failed to resolve his symptoms. Genetic testing later identified a hemizygous nonsense mutation in exon 1 of the WAS gene, confirming the diagnosis of WAS. The patient's treatment included several rounds of IVIG and antibiotics, with the consideration of alternative diagnoses such as autoimmune lymphoproliferative syndrome. After the genetic diagnosis, the patient was referred for hematopoietic stem cell transplantation. The delayed diagnosis of WAS due to initial misdiagnosis resulted in delayed appropriate interventions. Early genetic testing might have expedited the correct diagnosis and management. This case highlights the need to consider WAS in male infants with persistent thrombocytopenia, irrespective of platelet size, especially when standard treatments fail. Early genetic testing is crucial for timely diagnosis and appropriate management, potentially improving patient outcomes.
Keywords
Wiskott–Aldrich syndrome - immune thrombocytopenia - normal platelet volume - CMV infection - hematology
