Wiskott Aldrich Syndrome, often Missed: A Case Report and Review

Authors

  • Mani Kant Kumar Assistant Professor, Department of Paediatrics, Narayan Medical College and Hospital, Jamuhar, Sasaram, Bihar
  • Raghvendra Narayan Associate Professor, Department of Paediatrics, Narayan Medical College and Hospital, Jamuhar, Sasaram, Bihar

Keywords:

Wiskott-Aldrich syndrome, Eczema, Microthrombocytopenia

Abstract

Wiskott-Aldrich syndrome is an X-linked recessive disorder characterized by thrombocytopenia, eczema and recurrent infections. We report a 15 month old boy who had presented with lower gastrointestinal bleed, recurrent infections and eczema. Blood picture revealed microthrombocytopenia, high IgA and IgE, and low IgM and Normal IgG levels. A diagnosis of Wiskott-Aldrich Syndrome was made, which was missed by many paediatrician even after prolonged hospital stay before admission in our Institute. The recent progress in understanding of the pathophysiology and treatment are discussed.

Key words: Wiskott-Aldrich syndrome; Eczema; Microthrombocytopenia

DOI: 10.3126/jnps.v31i2.4122

J Nep Paedtr Soc 2010;31(2):146-150

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Published

2011-05-06

Issue

Vol. 31 No. 2 (2011)

Section

Case Reports