A Case Report of Juvenile Myelomonocytic Leukemia in a Child: An Uncommon Presentation

Background: This case report highlights an uncommon presentation of JMML in a male child, stressing the significance of early detection and coordinated management to improve patient outcomes. Case Report: A 2-year-old boy exhibited symptoms of overall weakness, a progressively enlarging abdomen for 6-7 months, and occasional bouts of fever. Clinical examination revealed distinctive facial features, hepatosplenomegaly, and signs suggestive of Noonan syndrome. Laboratory investigations showed significant leukocytosis, monocytosis, anemia, and thrombocytopenia. Bone marrow examination and next-generation sequencing validated JMML’s diagnosis with a germline NRAS mutation. Given the absence of a suitable sibling donor and financial limitations, the patient received azacitidine (AZA) chemotherapy as a preparatory step for hematopoietic stem cell transplantation (HSCT). Discussion: This case underscores the complexity of diagnosing JMML, particularly in patients with overlapping congenital syndromes like Noonan syndrome. Molecular analysis played a crucial role in confirming the diagnosis. Despite the challenges, the patient responded well to AZA, highlighting its potential as a bridging therapy to HSCT. Early and accurate diagnosis and a multidisciplinary treatment approach are essential for improving outcomes in JMML patients. Conclusion: This case implies the significance of promptly identifying and managing JMML, especially when it presents with syndromic features. Azacytidine demonstrates potential as a transitional treatment, while HSCT remains the definitive therapy.