A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

AUTHORS

Mohd Farid Baharin, Jasbir Singh Dhaliwal, Smrdhi V. V. Sarachandran, Siti Zaharah Idris, Seoh Leng Yeoh

ABSTRACT

BACKGROUND: Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene. Microthrombocytopenia has been regarded as the key criteria in diagnosing this rare condition. However, in this case report, we describe a case of Wiskott-Aldrich syndrome with normal platelet size. CASE PRESENTATION: We report the case of a 9-month-old Malay boy who presented with persistent thrombocytopenia from birth. Serial blood investigations at birth showed he had normal platelet size. His family history revealed two early neonatal deaths in maternal uncles. Spontaneous bleeding was only seen at the age of 3 months. He was initially treated for immune thrombocytopenic purpura and was started on intravenously administered immunoglobulin. His clinical deterioration and poor response to the immunoglobulin raised suspicion for a different underlying pathology. Molecular analysis of the WAS gene revealed a missense mutation in exon 10. His parents refused further interventions and defaulted on subsequent follow-up appointments. CONCLUSIONS: A diagnosis of Wiskott-Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia despite an absence of small platelet size, a characteristic feature of Wiskott-Aldrich syndrome. More... »

PAGES

188

References to SciGraph publications

  • 2004-09. The Wiskott-Aldrich syndrome in CELLULAR AND MOLECULAR LIFE SCIENCES
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13256-016-0944-1

    DOI

    http://dx.doi.org/10.1186/s13256-016-0944-1

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27356510


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