en Case & Review Case & Review <aside> <p><b>Introduction:</b> 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.</p> </aside> <aside> <p><b>Case Presentation:</b> 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 <i>WAS</i> gene, which was due to a deletion mutation resulting in frameshift (c.177DelT).</p> </aside> <aside> <p><b>Conclusions:</b> 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 <i>WAS</i> gene. Therefore, high index of clinical suspicion is needed to diagnose WAS.</p> </aside> Wiskott-Aldrich Syndrome, Eczema, Thrombocytopenia 38 41 http://jpr.mazums.ac.ir/browse.php?a_code=A-10-30-32&slc_lang=en&sid=1 Jayitri Mazumdar jayidoc@gmail.com 10031947532846002204 10031947532846002204 Yes Department of Pediatrics, Calcutta National Medical College and Hospital, West Bengal University of Health Sciences, Kolkata, India Sumana Kanjilal 10031947532846002205 10031947532846002205 No Department of Pediatrics, Calcutta National Medical College and Hospital, West Bengal University of Health Sciences, Kolkata, India Anjan Das 10031947532846002206 10031947532846002206 No Department of Pathology, Calcutta National Medical College and Hospital, West Bengal University of Health Sciences, Kolkata, India