Case 401 -- Anemia and thrombocytopenia in a newborn

Contributed by Raj N Hari, MD, and Sandra S Kaplan, MD
Published on line in September, 2004


CLINICAL HISTORY:

The patient was a 12- day old female with who was diagnosed with Downs Syndrome. Her karyotype showed trisomy 21. She was noted to have mild cyanosis with symptoms of mild hypoxemia. Her initial blood count demonstrated severe anemia and thrombocytopenia. Flow cytometry, performed on her peripheral blood showed a >20% population of myeloblasts. A bone marrow smear and aspirate was subsequently ordered. All her other blood work including coagulation studies were normal.

PERIPHERAL BLOOD COUNTS AND MORPHOLOGIC FINDINGS:

CBC with differential

 

Patient Value

Normal Range

 Blasts

73%

 <5%

WBC

138.9 x 109/L

  5.0 21.0x 109/L

RBC

3.18 x 1012/L

  4.5 9.57 x 109/L

Hemoglobin

11.7 g/dL

  12.9 16.9 g/dL

Hematocrit

33.2 %

  37.0 42 %

MCV

104.1 fL

  88.6 126.0 fL

MCH

31.1 pg

  27.8 33.4 pg

MCHC

35.1g/dL

  32.7 35.5 g/dL

RDW

18.8 %

  11.5 15.2 %

Platelets

95x 109/L

  150 450 x 109/L

Eosinophils

  2 %

0.05 x 109/L

0.00 0.40 x 109/L

PERIPHERAL BLOOD:

As illustrated in Figures 1-4, the peripheral smear demonstrated many blasts with a small amount of blue cytoplasm, and prominent vacuoles. The nuclei are enlarged, with clumped chromatin and some folds. There was also some toxic granulation of neutrophils.

BONE MARROW ASPIRATE:

The bone marrow smear showed a cellular aspirate. There were large clusters of cells with enlarged nuclei, clumped chromatin and scant blue cytoplasm similar to the peripheral blood. There were in addition decreased levels of erythroid precursors and an absence of megakaryocytes.

FLOW CYTOMETRY:

CYTOGENETICS:

Cytogenetic studies revealed a male with trisomy 21 karyotype.

FINAL DIAGNOSIS


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