[Clinical Picture] Coexisting genetic abnormalities and thrombocytopenia

A 7-month-old boy presented to Osaka City General Hospital, Osaka, Japan, with persistent thrombocytopenia since birth. Despite treatments including intravenous immunoglobulin, prednisolone, romiplostim, and rituximab (details provided in the appendix p 1), platelet counts remained at approximately 20–30 × 109 platelets per L (normal range 158–348 × 109 platelets per L). A blood transfusion was administered when the platelet count fell below 5 × 109 platelets per L. After platelet transfusions, the platelet count could be maintained for several days.