Author/Authors :
Mazumdar، Jayitri نويسنده Department of Pediatrics, Calcutta National Medical
College and Hospital, West Bengal University of Health Sciences,
Kolkata, India , , Kanjilal، Sumana نويسنده Department of Pediatrics, Calcutta National Medical
College and Hospital, West Bengal University of Health Sciences,
Kolkata, India , , Das، Anjan Kumar نويسنده Department of Pathology, Calcutta National Medical College, Kolkata, West Bengal, India. ,
Abstract :
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.
