Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report
Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report

Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report

Medicine (Baltimore). 2025 Jul 18;104(29):e43178. doi: 10.1097/MD.0000000000043178.

ABSTRACT

RATIONALE: Transient abnormal myelopoiesis with mutations in GATA1 gene can be self-alleviated after 3 to 4 months of birth in term infant, however, the premature infant with this disease in our research achieved remission earlier.

PATIENT CONCERNS: A 10-hours-old girl was diagnosed with transient abnormal myelopoiesis with GATA1 mutation.

DIAGNOSIS: Transient abnormal myelopoiesis in a premature infant was suspected.

INTERVENTIONS: The patient received anti-infection, liver protection, hydration, and alkalization treatments for leukocytosis.

OUTCOMES: After admission, the infant was diagnosed with TAM with GATA1 mutation after completing bone marrow cytology, whole-exon gene detection, and FISH detection. The GATA1 gene mutation of this baby turns negative a month later.

LESSONS: Transient abnormal myelopoiesis differs from congenital leukemia. Most children can self-alleviate after 3 to 4 months of birth, and GATA1 mutation turns negative. Since some children with transient abnormal myelopoiesis may develop myeloid leukemia of Down syndrome, continuous follow-up is required once transient abnormal myelopoiesis is diagnosed for early detection and treatment.

PMID:40696625 | DOI:10.1097/MD.0000000000043178