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Management of Wiskott-Aldrich syndrome
A Srivastava1, H A Swaid, M Kabra
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Indian Journal of Pediatrics
|September 1, 1996
Insights
Wiskott-Aldrich Syndrome (WAS) is a rare genetic disorder causing eczema, infections, and bleeding due to small platelets. This case highlights WAS diagnosis and discusses current molecular pathology and treatment options.
Area of Science:
- Pediatrics
- Immunology
- Hematology
Background:
- Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, thrombocytopenia, and increased susceptibility to infections.
- Clinical presentation can vary, but gastrointestinal bleeding, recurrent infections, and eczema are common in infants.
Abstract:
A five-month-old boy presented with lower gastrointestinal bleed, recurrent infections and eczema. Blood picture revealed small platelets, high IgA, and IgM levels. A diagnosis of Wiskott-Aldrich Syndrome was made. The recent concepts in molecular pathology of the disease and treatment are discussed.