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

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.