PMC6415290_01
(a) G-banding karyotype showing the i(14q) (q10) with a bone marrow aspiration test at two years before admission. (b) Karyotype analysis using spectral karyotyping (SKY) method with a bone marrow aspiration test on day 138. SKY analysis identified an anomaly [idic (14), +1, and der (1; 7) (q10; p10)], which was the same abnormality as the result by G-banding analysis (data not shown).
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The 46, XY, i(14) (q10) abnormality was detected in 100% of marrow metaphases (Figure 1(a)).
(a) Swelling of the left thigh with subcutaneous hemorrhage. (b) Computed tomography showing a large muscle bleed in the left quadriceps femoris muscle (arrow). (c-e) Bone marrow aspiration test on hospital day 24 (HE staining). (c) Normocellular marrow with an adequate proportion of erythrocytes (x400). (d) Granular cells possess a vacuole; 12% of nucleated cell count (NCC) were classified as monocytic cells (x1000, arrow). (e) Abnormal cells stained positive for peroxidase staining (x1000, arrow).
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Physical examination showed conjunctival pallor and a swelling on the left thigh with overlying bruising (Figure 2(a)). Computed tomography revealed a large bleed in the left quadriceps femoris muscle (Figure 2(b)). Bone marrow aspirate also shown an elevated number of neutrophils and monocytes with cytoplasmic vacuoles (Table 2) with micromegakaryocyte and erythroblast dysplasia, and the karyotype was determined to be 46, XY, i(14) (q10), which was the same abnormality as previously identified (Figures 2(c)-2(e)).
The clinical course of our patient. PSL: prednisolone; CyA: cyclosporine A; CPA: cyclophosphamide; AZP: azathioprine; AZA: azacitidine; aPCC: activated prothrombin complex concentrate; RBC: red blood cells; PC: platelet concentrates; PCI: percutaneous coronary artery intervention.
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FVIII activity was still less than 1%, and inhibitor titer was 109 BU/mL (Figure 3). Seven months after presenting with AHA, the patient developed gastrointestinal bleeding and died (Figure 3).