Case 428 -- A 32 year old man with severe pancytopenia

Contributed by Siobhan O'Connor, MD and Sandra Kaplan, MD
Published on line in June 2005


PATIENT HISTORY:

The patient is a 32 year old male who presented to the emergency department complaining of progressive fatigue and shortness of breath on exertion over a two to three month period. He denied any infection, bleeding or bruising. He reported consumption of one case of beer per day for ten years, but in the last four years had reduced his intake to one six-pack per day. Past medical history is significant for multiple gunshot wounds to the abdomen in the late 90s requiring resection of small bowel and colon, including the terminal ileum and cecum. This was followed by repair of a large ventral hernia in 2001. No outpatient medications and no known drug allergies. Physical exam showed mild scleral icterus, lungs clear to auscultation, heart regular rate and rhythm without murmurs, rubs, or gallops, abdomen with midline scar, liver palpable 2 cm below the left costal margin, and spleen not enlarged.

A bone marrow specimen was sent to pathology accompanied by peripheral blood showing the following:

Bacterial and fungal cultures from bone marrow were negative. Parvovirus and HIV were negative.

MICROSCOPIC DESCRIPTION:

Peripheral blood erythrocytes show marked anisocytosis (Image 1), basophilic stippling (Image 2), polychromasia (Image 3), nucleated forms (Image 4), and macroovalocytes (Image 5). Hypersegmented granulocytes are frequent (Images 6 and 7).

The marrow is markedly hypercellular, >95% cellularity (Image 15). Erythroid precursors show marked megaloblastic features with large nuclei and open chromatin (Images 9 and 12). Dyserythropoiesis is prominent, including binucleate forms and budding nuclei (Images 10 and 11). Myeloid precursors demonstrate marked megaloblastic features and dysplastic forms, including hypersegmented nuclei and giant metamyelocytes (Images 12 and 13). Megakaryocytes are present in decreased numbers. Stainable iron is present and slightly increased (Image 14). No ringed sideroblasts are identified. Erythroid precursors are large and immature-appearing on biopsy (Images 16 and 17). The decreased myeloid/erythroid ratio is evident on the aspirate smear and biopsy (Image 8, aspirate; Image 17, biopsy with PAS). Mild reticulin fibrosis is present (Image 18).

FLOW CYTOMETRY:

Normal with heterogeneous cellular populations and CD34 positive blasts comprising less than 1.5% of total events analyzed. Evaluation for evidence of paroxysmal nocturnal hemoglobinuria was negative.

CYTOGENETICS:

Normal, 46 X,Y.

FINAL DIAGNOSIS


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