A 4-year-old boy Bala is seen by his pediatrician for epistaxis. The patient has a history of multiple bacterial and viral respiratory tract infections and eczema. His uncle had similar problems. Physical examination is remarkable for multiple petechial lesions on the skin and mucous membranes. Serum IgE is increased, and platelets are decreased. Which of the following is the most likely diagnosis?
Correct Answer: Wiskott-Aldrich syndrome
Description: Wiskott-Aldrich syndrome is an X-linked condition characterized by eczema, thrombocytopenia, and repeated infections. Affected children may present with bleeding and often succumb to complications of bleeding, infection, or lymphoreticular malignancy. The platelets are small, have a shoened half-life, and appear to be deficient in surface sialophorin (CD43). Splenectomy can correct the thrombocytopenia, but not the immune defect. Serum IgM is usually decreased, while IgE is frequently increased. Mutations in the Wiskott-Aldrich serum protein (WASP) gene on the sho arm of the X chromosome are responsible for this disease. Acquired hypogammaglobulinemia is a disease of adults characterized by normal numbers of B cells but low immunoglobulin production. DiGeorge syndrome is a developmental malformation leading to thymic aplasia and, sometimes, hypoparathyroidism. Selective IgA deficiency is a relatively common condition characterized by low levels of IgA.
Category:
Pediatrics
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