DOI: https://doi.org/10.36347/sjmcr.2024.v12i12.043

Pages: 2184-2187

Juvenile myelomonocytic leukemia (JMML) is a rare pathology affecting the hematopoietic stem cell. Its pathophysiology is linked to deregulation of the RAS signal transduction pathway. It is a rare, myelodysplastic-myeloproliferative disease typically presenting in early childhood. This disorder is difficult to distinguish from other myeloproliferative syndromes such as chronic myeloid leukemia (CML) because of the similarities in their clinical and bone marrow findings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinemia, and raised fetal hemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukemia (CMML) group, as seen in adult patients. We report the case of a male infant aged 15 months who was hospitalized for prolonged fever associated with tumor syndrome. This case has been reported in line with The 2016 iteration of the World Health Organization classification of myeloid neoplasms. The interest of this observation is to describe a rare case of JMML.