Congenital Leukemia: A Case Report and Review of Literature

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2023 Nov 10

PMID 37946786

Authors

Chun-Xia Yang

Ying Yang

Fen-Li Zhang

Ding-Huan Wang

Qiu-Han Bian

Man Zhou

Ming-Xiang Zhou

Xiao-Yan Yang

Affiliations

Soon will be listed here.

Abstract

Background: Acute leukemia in newborns is also known as neonatal or congenital leukemia (CL) and is a rare disease with an incidence rate of 1-5 per 1000000 live births. After birth, infants with CL exhibit infiltrative cutaneous nodules, hepatosplenomegaly, thrombocytopenia, and immature leukocytes in the peripheral blood. These symptoms are frequently accompanied by congenital abnormalities including trisomy 21, trisomy 9, trisomy 13, or Turner syndrome. Despite significant advances in disease management, the survival rate is approximately 25% at 2 years.

Case Summary: Here, we document a case of trisomy 21-related acute myeloid leukemia (AML) in a female neonate. The baby was sent to the neonatal intensive care unit because of anorexia, poor responsiveness, and respiratory distress. She was diagnosed with AML based on bone marrow aspiration and immunophenotyping. Genetic sequencing identified a mutation in the gene. After receiving the diagnosis, the parents decided against medical care for their child, and the baby died at home on day 9 after birth.

Conclusions: The newborn infant was diagnosed with trisomy 21-related AML. Genetic sequencing identified a mutation in the gene. The parents abandoned medical treatment for their infant after receiving the diagnosis, and the infant died at home on the 9 day after birth.

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