title: A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.
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.
  
  
  METHODS
  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.
authors.affiliation: Allergy and Immunology Research Centre, Institute for Medical Research, Jalan Pahang, 50588, Kuala Lumpur, Malaysia. mohdfarid@imr.gov.my.
authors.forename: Mohd Farid
authors.initials: MF
authors.lastname: Baharin
authors.affiliation: Institute for Medical Research, Jalan Pahang, 50588, Kuala Lumpur, Malaysia.
authors.forename: Jasbir Singh
authors.initials: JS
authors.lastname: Dhaliwal
authors.affiliation: Department of Pediatrics, Hospital Sultanah Bahiyah, KM 6, Jalan Langgar, 05460, Alor Setar, Kedah, Malaysia.
authors.forename: Smrdhi V V
authors.initials: SV
authors.lastname: Sarachandran
authors.affiliation: Department of Pathology, Hospital Sultanah Bahiyah, KM 6, Jalan Langgar, 05460, Alor Setar, Kedah, Malaysia.
authors.forename: Siti Zaharah
authors.initials: SZ
authors.lastname: Idris
authors.affiliation: Department of Pediatrics, Hospital Pulau Pinang, Jalan Residensi, 10450, George Town, Pulau Pinang, Malaysia.
authors.forename: Seoh Leng
authors.initials: SL
authors.lastname: Yeoh
mesh_terms: D001792:Blood Platelets; D006801:Humans; D007223:Infant; D008297:Male; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis*
keywords: Eczema; Recurrent infection; Thrombocytopenia; Wiskott-Aldrich syndrome; X-linked thrombocytopenia