• chemotherapy;
  • Down syndrome;
  • premature infant;
  • transient myeloproliferative disorders


What is known and Objective

Congenital leukaemia is the most common leukaemia in newborns with Down syndrome, but it must be differentiated from transient myeloproliferative disorder. The majority of transient myeloproliferative disorders regresses spontaneously during the first few months of life. Data on the treatment outcomes of transient myeloproliferative disorder in premature infants are very rare. We present a case of a very-low-birthweight (1350 g) premature newborn with Down syndrome, diagnosed as having transient myeloproliferative disorder and treated with chemotherapy due to recurrent hyperleucocytosis (WBC: 148 000/mm³) after repeated exchange transfusions.

Case summary

The patient's WBC count regressed to 24 000/mm3 without treatment. During the follow-up period, the WBC increased on consecutive days and reached 95 000/mm3 on the 16th day of the hospitalization. Therefore, chemotherapy was started. Single-agent cytarabine infusion was administered over five days. After the therapy, the WBC count stayed stable and remained steady in the range 4600–13600/mm3 in the second month.

What is new and Conclusion

A very-low-birthweight infant with Down syndrome and recurrent transient myeloproliferative disorder was successfully treated with cytarabine.