Work

An algerian three-month-old infant with juvenile myelomonocytic leukemia and noonan syndrome: a case report and review of literature

Year: 2024

Type: article

Abstract: Introduction and Importance: Juvenile myelomonocytic leukemia (JMML) is a rare childhood malignancy. Noonan syndrome (NS), a genetic disorder, is occasionally associated with an increased risk of JMML. Mutations in the Ras signaling pathway are implicated in both conditions. Case Presentation: We report a case of a 3-month-old infant diagnosed with JMML. The infant displayed features suggestive of NS. Using the WHO 2016 criteria the diagnosis of JMML was made. Despite initial concerns, the infant exhibited a marked clinical response without specific anti-leukemic therapy, with significant improvement in symptoms and blood counts. Clinical Discussion: This case highlights the importance of maintaining a high index of suspicion for JMML in infants with NS features, particularly monocytosis and splenomegaly. It also underscores the potential for variable presentations of JMML, including cases with a more indolent course. While genetic confirmation was unavailable, the clinical picture suggests a possible link between the underlying Ras pathway mutations and the infant’s favorable response. Conclusion: In the patients exhibit NS features, monocytosis, and splenomegaly, clinicians should keep an eye out for juvenile myelomonocytic leukemia (JMML). Given that both illnesses may be influenced by similar underlying mutations in the Ras pathway.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000002476