Wiskott-Aldrich syndrome — MRCPCH TAS MCQ

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HardImmunologyWiskott-Aldrich syndromeMRCPCH TAS

A 9-month-old boy has eczema, recurrent infections and persistent thrombocytopenia with small platelets. His maternal uncle died of infection in infancy. What is the most likely diagnosis?

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Correct answer: B — Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome presents with eczema, immunodeficiency and thrombocytopenia with small platelets, often with X-linked inheritance. X-linked agammaglobulinaemia causes absent B cells and low immunoglobulins but not small-platelet thrombocytopenia. The pearl is that platelet size helps distinguish Wiskott-Aldrich from many other causes of thrombocytopenia.

Reference: Nelson Textbook of Pediatrics; RCPCH Theory examination syllabi; Lissauer's Illustrated Textbook of Paediatrics