A rare presentation of Wiskott - Aldrich syndrome with Macrothrombocytopenia

We report a one and half year old male child diagnosed with Wiskott - Aldrich syndrome (WAS). He had persistent thrombocytopenia which on bone marrow biopsy was found to be macrothrombocytopenia. He did not exhibit any characteristic clinical and laboratory findings indicating the syndrome. A test for WASp gene was done which showed reduced expression. Thus it is essential to test for mutations of the WAS gene in all unexplained cases of infantile thrombocytopenia even in the absence of characteristic feature of microthrombocytopenia.