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   Wiskott-Aldrich Syndrome With Normal-Sized Platelets in An Eighteen-Month-Old Boy: A Rare Mutation  
   
نویسنده Mazumdar Jayitri ,Kanjilal Sumana ,Das Anjan
منبع Journal Of Pediatrics Review - 2015 - دوره : 3 - شماره : 2 - صفحه:1 -4
چکیده    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.
کلیدواژه Wiskott-Aldrich Syndrome ,Eczema ,Thrombocytopenia
آدرس Department Of Pediatrics, Calcutta National Medical College And Hospital, West Bengal University Of Health Sciences, Kolkata, India, India, Department Of Pediatrics, Calcutta National Medical College And Hospital, West Bengal University Of Health Sciences, Kolkata, India, India, Department Of Pathology, Calcutta National Medical College And Hospital, West Bengal University Of Health Sciences, Kolkata, India, India
 
 

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