Abstract
BACKGROUND: Congenital leukemia is an exceptionally rare condition, with an incidence of 1 to 5 cases per million live births. Despite its rarity, the disease is clinically significant due to its severe manifestations and the need for tailored diagnostic and therapeutic strategies. Clinical features typically include hepatosplenomegaly, thrombocytopenia, and infiltrative cutaneous nodules. Recent advancements have identified the MLL gene as a critical player in leukemogenesis. A thorough understanding of the genetic and clinical aspects of congenital leukemia is essential for optimal patient management and genetic counseling. CASE PRESENTATION: A 1-day-old male newborn, the first child conceived through in vitro fertilization (IVF) for this family, presented with neonatal tachypnea, hepatosplenomegaly, and thrombocytopenia. Genetic analysis revealed a chromosomal translocation involving the MLL gene. His twin brother, conceived simultaneously but developing independently, showed no signs of leukemia. The therapeutic approach included oxygen therapy, platelet transfusions, and supportive care. Follow-up assessments indicated significant improvement in hepatosplenomegaly and hematological indices. CONCLUSION: This case highlights the clinical importance of congenital leukemia, particularly in the context of IVF-conceived pregnancies. The observed genetic discordance between the twins suggests the involvement of somatic mutations, chromosomal mosaicism, and epigenetic modifications. Recommendations for reducing the risk of genetic disorders in IVF-conceived pregnancies include preimplantation genetic testing, optimization of culture conditions, parental genetic screening, and ongoing research and education. This case represents the first documented instance worldwide of congenital leukemia occurring in one of the separate twins conceived through in vitro fertilization (IVF).
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