A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size


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Abstract

Wiskott–Aldrich Syndrome (WAS) is a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the heterogeneity of genetic and clinical findings, a correlation with small platelet size is routinely observed. Herein we describe a case with a unique phenotype that links normal mean platelet volume with the classic characteristics of this disease. The diagnosis was verified by genetic analysis showing a novel and de novo mutation. Our case illustrates that a high index of suspicion of WAS is warranted even in the setting of normal sized platelets. Pediatr Blood Cancer 2011;56:1127–1129. © 2011 Wiley-Liss, Inc.

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