MEDizzy
MEDizzy
USMLE
Combined Hematology III
A neonate with Down syndrome is found to have hepatosplenomegaly and a violaceous skin infiltrate. Her FBC shows WBC 27.2 × 109/l, Hb 139 g/l and platelet count 27 × 109/l. A blood ûlm shows blast cells, some of which have basophilic cytoplasm and cytoplasmic blebs, and are thought likely to be megakaryoblasts. There are occasional micromega-karyocytes, nucleated red cells and granulocyte precursors. It is concluded that the skin lesion is leukaemia cutis. The most appropriate management is:
Explanation
ExplanationC. The diagnosis is transient abnormal myelopoiesis of Down syndrome, not acute leukaemia.1,2 There is not currently any need for red cell or platelet transfusion. There is certainly no indication for chemotherapy, which would only be appropriate if the WBC were very high with a risk of leucostasis. A spontaneous remission is expected although about a quarter of such babies go on to develop AML a few years later
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