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.
Original language | English (US) |
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Pages (from-to) | 1127-1129 |
Number of pages | 3 |
Journal | Pediatric Blood and Cancer |
Volume | 56 |
Issue number | 7 |
DOIs | |
State | Published - Jul 1 2011 |
Keywords
- Mean platelet volume
- Size
- Wiskott-Aldrich syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology