| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 205 |
Submitter(s): Xi Wang, Lisa Giordano, Lilly Matthew, Morris Kletzel, Paula Kovarik.
Clinical history
The patient was a male infant born following a 37 weeks gestation to a 32 year-old G6P3023 Palestinian mother. The infant was delivered via cesarean section due to previous vaginal laceration. The mother received good prenatal care with proper Rubella immunization and tested negative for RPR, HIV, HBsAB, and Group B Streptococcus. The delivery was unremarkable with Apgar scores of 8 and 8 and 1 and 5 minutes. Physical examination showed numerous cafe au lait spots but no other congenital anomalies or physical findings.
Approximately a hour after deliver the infant developed severe hypoxia requiring intubation. Laboratory tests revealed a WBC of 102,000/mm with 16% mature and immature monocytes and occasional blasts. Other tests for infectious agents including RSV, EBV, HSV, Parvovirus B19, gonorrhea, clamydia, Group B Streptococcus, and cytomegalovirus were negative. Functional test for leukocyte adhesion was normal.
Throughout his hospitalization, the infant's hypoxia continued to deteriorate despite treatment with isotretinoin and mechanical ventilation. Monocytosis and thrombocytopenia were consistently present. He expired on the 18th day of life. Permission for autopsy was not granted.
Details of gross/microscopic pathology:
Review of the peripheral blood demonstrated a marked leukocytosis with increased numbers of monocyte and circulating nucleated red cells. A 100-cell differential count showed 22% nucleated red cells, 28% segmented neutrophils, 16% bands, lymphocytes 6%, monocytes 12%, eosinophils 2%, blasts 4%, promyelocytes 2%, myelocytes 18%, and metamyelocytes 12%.
The bone marrow biopsy and aspirate were hypercellular with granulocytic hyperplasia. Megakaryocyte were decreased; erythroid precursors showed megaloblastic maturation and mild nuclear dyskinesis. The differential count in the bone marrow was essentially identical to that of the peripheral blood.
Immunohistochemical stain for CD68 performed on the bone marrow biopsy also highlighted the increased numbers of monocytes present.
Immunophenotype (flow cytometry/immunohistochemistry):
Cytogenetics:
Cytogenetic analysis performed peripheral blood showed a normal male karyotype: 46,XY. FISH analysis did not detect evidence of monosomy 7.
In-vitro culture of the peripheral blood in semi-solid and liquid media showed a high degree of autonomous growth in the absence of colony-stimulating factor.
Molecular analysis:
Interesting feature(s) of submitted case:
Juvenule myelomonocytic leukemia in a newborn infant.
Proposed diagnosis:
Juvenile myelomonocytic leukemia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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