LQCL2207 - CMLE - TRANSIENT ABNORMAL MYELOPOIESIS ASSOCIATED WITH DOWN SYNDROME-TRANSIENT ABNORMAL MYELOPOIESIS ASSOCIATED WITH DOWN SYNDROME

TRANSIENT ABNORMAL MYELOPOIESIS ASSOCIATED WITH DOWN SYNDROME

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The document discusses a case of an infant with leukocytosis and physical anomalies suggesting Down syndrome, prompting a hematological evaluation. The results revealed transient abnormal myelopoiesis associated with Down syndrome characterized by an increased blast count with myeloid differentiation. Key features included a distinctive immunophenotype and a genetic mutation involving trisomy 21 and GATA1. The clinical presentation, diagnostic challenges, treatment options, and prognostic factors for TAM-DS were outlined. The infant received low-dose cytarabine therapy, resulting in symptom resolution. This case highlights the importance of accurate diagnosis in distinguishing TAM-DS from acute myeloid leukemia in newborns with Down syndrome. Early detection and appropriate management are crucial for ensuring favorable outcomes in such cases.

Keywords

infant

leukocytosis

Down syndrome

hematological evaluation

transient abnormal myelopoiesis

blast count

GATA1 mutation

TAM-DS

cytarabine therapy

acute myeloid leukemia