Question 1
You are seeing a 2-year-old girl with new onset of fever and bronchitis. She has maculopapular rash and hepatosplenomegaly. Blood smear shows leukocytosis (100,000/mm3), anemia, and thrombocytopenia. Ancillary tests include fetal hemoglobin of 80% and normal blood karyotype. What is the most likely diagnosis?
- A. Leukemoid Reaction
- B. Acute lymphoblastic leukemia (ALL)
- C. Chronic myeloid leukemia (CML)
- D. Juvenile myelomonocytic leukemia (JMML)
Show answer and rationale
Correct answer: D — Juvenile myelomonocytic leukemia (JMML)
The most likely diagnosis in this case is Juvenile myelomonocytic leukemia (JMML). JMML is a rare myelodysplastic/myeloproliferative neoplasm seen in young children. The clinical presentation of fever, rash, hepatosplenomegaly, leukocytosis, anemia, and thrombocytopenia is consistent with JMML. The presence of fetal hemoglobin of 80% is a key finding in JMML, as it is a distinguishing feature. Additionally, a normal blood karyotype rules out chromosomal abnormalities commonly seen in other leukemias. Leukemoid reaction (Choice A) is characterized by a reactive increase in leukocyte count due to an underlying condition, but it does not explain the other findings in this case. Acute lymphoblastic leukemia (ALL - Choice B) primarily affects lymphoid cells, not myeloid cells as seen in this case. Chronic myeloid leukemia (C