Wiskott-Aldrich Syndrome with Macrothrombocytopenia.
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Date
2014-12
Journal Title
Journal ISSN
Volume Title
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Abstract
Background: Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with
a variable phenotype. Case Characteristics: 3.5-year-old boy diagnosed with Wiskott-
Aldrich syndrome. Observation: Unusual and persistent thrombocytopenia with
increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory
finding for the syndrome. Outcome: Maternally inherited causative mutation in the exon 2
of the WAS gene was disclosed. Message: This is a need for multidisciplinary
assessment of patients with congenital or early infantile thrombocytopenia, including
testing for mutations of the WAS gene in all unexplained cases even in the absence of
characteristic microthrombocytopenia.
Description
Keywords
Immunodeficiency, Platelet abnormalities, Thrombocytopenia
Citation
Skoric Dejan, Dimitrijevic Aleksandar, Cuturilo Goran, Ivanovski Petar. Wiskott-Aldrich Syndrome with Macrothrombocytopenia. Indian Pediatrics. 2014 Dec; 51(12): 1015-1016.