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A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size
Author(s) -
Patel Payal D.,
Samanich Joy M.,
Mitchell William B.,
Manwani Deepa
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22920
Subject(s) - medicine , wiskott–aldrich syndrome , platelet , presentation (obstetrics) , mean platelet volume , phenotype , mutation , blood cancer , clinical phenotype , immunodeficiency , disease , immunology , cancer , genetics , surgery , gene , immune system , biology
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.