The Unusual Presentation of Bilateral Proptosis Presents a Dilemma in the Case of Juvenile Myelomonocytic Leukemia

Abstract

Juvenile myelomonocytic leukemia (JMML) is a myelodysplastic/myeloproliferative neoplasm. It is a rare pediatric neoplasm occurring in early childhood. Herein, we present a case of JMML in a 4-year-old girl admitted for primary complaints of protrusion of eyes and fever for the past 15 days not responding to any medications. With findings of splenomegaly and peripheral blood smear showing severe leukocytosis and increased monocytoid and blast cells, a myelomonocytic series neoplasm was suspected. Abelson (Abl) tyrosine kinase gene break point cluster (Bcr) gene (BCR-ABL1) was found to be negative on fluorescence in situ hybridization (FISH). Taking into consider all these findings, the patient was diagnosed with JMML. Since hematopoietic stem cell transplantation (HSCT) is not offered at our hospital, the patient was referred to another medical facility for the required procedure. This case highlights that bilateral proptosis could be a primary finding in early cases of JMML and should not be missed.

Keywords

• proptosis
• juvenile myelomonocytic leukemia
• BCR-ABL1