Publication: Wiskott Aldrich Syndrome, often Missed: A Case Report and Review
Date
2011
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 146 - 150
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Identifier
https://doi.org/10.3126/jnps.v31i2.4122