Wiskott Aldrich Syndrome Case Study

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WISKOTT –ALDRICH SYNDROME PRESENTING WITH JMML LIKE BLOOD PICTURE AND NORMAL SIZED PLATELETS
Abstract
Objective. The aim of this paper is to report the case of Wiskott Aldrich syndrome ( WAS) patient presented with unusual laboratory features . Clinical Presentation and Intervention. Male neonate admitted with symptoms related to thrombocytopenia,whose initial diagnosis were considered as neonatal alloimmune thrombocytopenia and JMML (Juvenile myelomonocytic leukemia) but subsequently diagnosis confirmed as WAS. Conclusion. This case shows that a suspicion of WAS is warranted in the setting neonatal thrombocytopenia with JMML like blood picture & normal sized platelets
Introduction
Although thrombocytopenia is relatively rare in the general newborn population, it occurs more frequently in patients admitted to neonatal intensive care units. Platelet count < 50 x 109/L is considered as severe thrombocytopenia. Severe neonatal thrombocytopenia is uncommon in the
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Discussion
Wiskott-Aldrich syndrome is a primary immunodeficiency disorder which presents with classic triad of thrombocytopenia with small platelets, recurrent infections and eczema. Our case was atypical & unusual due to, 1. Blood picture like JMML & normal platelet morphology on peripheral smear 2.Normal MPV on repeated testing 3. Good response to platelets transfusion & IVIg in on multiple occasions.
Review of literature reveals occasional rare cases of WAS ,which may presents with blood picture of JMML & normal MPV.3 Thrombocytopenia in WAS do not responds to IVIg, however there are reports in literature to support that IVIg administration can improve response to platelet transfusion and may normalize the platelet count temporarily.4

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