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