Case 107 – update 3

CXR and ECHO show no significant abnormalities. Abdo USS confirms hepatosplenomegaly but no ascites. There are no skin rashes and his blood tests are stable.

Blood film report:

Polycythaemic film. Pleomorphic blasts with evidence of cytoplasmic blebbing. Manual blast count 15%. Megakaryocyte fragments seen.


CD45 weak population = 12% of total nucleated cells.
CD34 variable (+/neg), CD13 weak, CD33+, CD7+, CD117+,

HLA DR variable (+/neg).                                                                

Flow cytometry has demonstrated a population of myeloid precursor cells with aberrant CD7 expression. There is megakaryocyte marker expression consistent with a picture of Transient Leukaemia in the context of Down syndrome (TL-DS).
Trisomy 21 and GATA1 mutation have been confirmed. Coagulation was checked and there is no evidence of DIC.


1. What factors would determine whether treatment is required?

2. If treatment is indicated, what would you do?

3. How do you plan to follow up this baby and why?

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