Question:medium
A 5-year-old male child presents to the clinic with a history of recurrent infection. On examination he is found to have the rashes shown below. On routine blood investigation, a low platelet count is found. What will be the diagnosis?
A 5-year-old male child presents to the clinic with a history of recurrent infection. On examination he is found to have the rashes shown below. On routine blood investigation, a low platelet count is found. What will be the diagnosis?
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Recall the X-linked triad of eczema, thrombocytopenia and recurrent infection in a boy.
Updated On: Jun 23, 2026
- Wiskott-Aldrich syndrome
- Job's syndrome
- Chediak-Higashi syndrome
- None
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The Correct Option is A
Solution and Explanation
Mnemonic first: Wiskott-Aldrich = WATER, think Wiskott-Aldrich Thrombocytopenia, Eczema, Recurrent infections. A boy with all three is the exam giveaway.
Genetics anchor: the defect is in the WAS gene on the X chromosome (Xp11.23), so it is X-linked recessive and shows up in male children. A hallmark lab clue is small platelets on the smear, with a low count causing bleeding.
Why not the others: Job's syndrome (hyper-IgE) features the FATED picture, coarse Facies, cold Abscesses, retained Teeth, raised IgE, Dermatitis, but platelets are normal. Chediak-Higashi shows oculocutaneous albinism and giant cytoplasmic granules in neutrophils, not the eczema-plus-low-platelet combination. So the answer stays Wiskott-Aldrich syndrome.
Ref: Robbins and Cotran Pathologic Basis of Disease, 9th Edition.
Genetics anchor: the defect is in the WAS gene on the X chromosome (Xp11.23), so it is X-linked recessive and shows up in male children. A hallmark lab clue is small platelets on the smear, with a low count causing bleeding.
Why not the others: Job's syndrome (hyper-IgE) features the FATED picture, coarse Facies, cold Abscesses, retained Teeth, raised IgE, Dermatitis, but platelets are normal. Chediak-Higashi shows oculocutaneous albinism and giant cytoplasmic granules in neutrophils, not the eczema-plus-low-platelet combination. So the answer stays Wiskott-Aldrich syndrome.
Ref: Robbins and Cotran Pathologic Basis of Disease, 9th Edition.
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