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

Payal D. Patel, Joy M. Samanich, William B. Mitchell, Deepa Manwani

Research output: Contribution to journalArticle

10 Scopus citations

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 languageEnglish (US)
Pages (from-to)1127-1129
Number of pages3
JournalPediatric Blood and Cancer
Volume56
Issue number7
DOIs
StatePublished - Jul 1 2011

Keywords

  • Mean platelet volume
  • Size
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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