wiskott-aldrich syndrome with normal-sized platelets in an eighteen-month-old boy: a rare mutation

introduction: wiskott-aldrich syndrome (was) is an x-linked recessive disorder characterized by thrombocytopenia, eczema, and recurrent infections. the disease is usually associated with small defective platelets.case presentation: we described an 18-month-old boy who presented with lower gastrointestinal bleeding, eczema, and recurrent infections. there was pancytopenia with normal-sized platelets. in addition, the cd4 count was significantly low and serum iga and ige levels were increased. the diagnosis of was was confirmed by detecting a mutation of was gene, which was due to a deletion mutation resulting in frameshift (c.177delt).conclusions: usually microplatelets with mean platelet volume of 4-5 fl are seen in was, but in this case, the patient had normal-sized platelets with a rare mutation of was gene. therefore, high index of clinical suspicion is needed to diagnose was.