SummaryWe describe an 11-year-old girl with a mild bleeding disorder since early childhood. The disorder was characterized by a prolonged bleeding time, and the patient’s platelets showed defective aggregation responses to thromboxane A2 (TXA2) mimetic U46619 and arachidonic acid. In contrast, the platelets showed normal responses to thrombin and Ca ionophore A23187. When the platelet TXA2 receptor was examined with the [3H]-labeled TXA2 agonist U46619, the equilibrium dissociation rate constants (kd) and the maximal concentration of binding sites (Bmax) of the patient's platelets were within normal ranges. Normal GTPase activity was also induced in the patient's platelets by stimulation with U46619, however, inositol 1,4,5-triphosphate (IP3) formation was not induced by U46619. These results suggested that the patient’s platelets had a defect in phospholipase C activation beyond TXA2 receptors.
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful results are rarely obtained. Poor outcomes are often related to graft failure and cardiac and other organ toxicities. We describe in this report successful unrelated donor bone marrow transplantation for a patient with SDS who progressed to acute myelogenous leukemia. The patient received attenuated intensified chemotherapy because of his intolerance to ordinary chemotherapy and went into remission. Sustained unrelated donor bone marrow engraftment was accomplished after treatment with a reduced amount of cyclophosphamide and antithymocyte globulin with 12 Gy of total body irradiation as a conditioning regimen. To the best of our knowledge, this report is the first to describe unrelated donor bone marrow transplantation with complete engraftment for an SDS patient with myelogenous leukemia.
A 3-year-old boy with multiple sulphatase deficiency, complicated by a haemophagocytic syndrome, recovered with conventional treatment. Haemophagocytic syndrome can be a complication of many disorders including metabolic diseases, frequently triggered by intracellular viral and bacterial infections or even by drug administration.
Microangiopathic hemolytic anemia and thrombocytopenia have been reported in patients with primary pulmonary hypertension, but not in patients with congenital heart disease even if accompanied with pulmonary hypertension. We present a 7-year-old boy with atrial septal defect and pulmonary hypertension who developed microangiopathic hemolysis and thrombocytopenia. Microangiopathic hemolytic anemia and thrombocytopenia should be remarked as a complication in patients with congenital heart disease.
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