Question 1 · Hard
An 8-year-old boy has had fever, mouth ulcers and sore gums about every 3 weeks since infancy, recovering fully in between. He has no lymphadenopathy or splenomegaly and takes no medicines. Absolute neutrophil counts taken twice a week for 6 weeks (reference 1.5-8.0 × 10^9/L) are: day 1, 2.6; day 4, 1.1; day 8, 0.1; day 11, 0.2; day 15, 1.8; day 18, 3.4; day 22, 2.1; day 25, 0.6; day 29, 0.05; day 32, 0.3; day 36, 2.2; day 39, 3.0. The monocyte count rises at each low point. Hemoglobin and platelets are normal, the film shows no blasts, and antineutrophil antibodies are negative. The most likely diagnosis is:
- AAutoimmune neutropenia of childhood
- BBenign ethnic (Duffy-null) neutropenia
- CSevere congenital neutropenia
- DCyclic neutropenia
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Answer: D · Cyclic neutropenia
The neutrophil count falls below 0.2 × 10^9/L about every 21 days (lows on days 8 and 29) and returns to normal in between, and his symptoms recur on the same cycle, which defines cyclic neutropenia. It is usually caused by a mutation in ELANE, the neutrophil elastase gene, and the monocyte count typically rises as the neutrophils fall. The diagnosis needs counts two or three times a week for about 6 weeks, because a single count can be normal or very low by chance. Severe congenital neutropenia keeps the count very low all the time, and autoimmune neutropenia has antineutrophil antibodies and no regular cycle. Benign ethnic (Duffy-null-associated) neutropenia gives a stable, mildly low count without infections.
- A: Antineutrophil antibodies are negative, and autoimmune neutropenia has no regular cycle.
- B: Duffy-null-associated neutropenia is mild and stable and does not fall near zero.
- C: Severe congenital neutropenia keeps the count low all the time; here it recovers to normal.