title: A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.
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.
authors.affiliation: Department of Hematology and Oncology, Children's Hospital at Montefiore, Bronx, New York, USA.
authors.forename: Payal D
authors.initials: PD
authors.lastname: Patel
authors.forename: Joy M
authors.initials: JM
authors.lastname: Samanich
authors.forename: William B
authors.initials: WB
authors.lastname: Mitchell
authors.forename: Deepa
authors.initials: D
authors.lastname: Manwani
mesh_terms: D001792:Blood Platelets; D048429:Cell Size; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010976:Platelet Count; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D016896:Treatment Outcome; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein