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

一例唐氏综合征早产儿短暂性异常髓系造血:病例报告

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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.

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