Essential thrombocythemia in a child with elevated thrombopoietin concentrations and skeletal anomalies

Essential thrombocythemia is a rare myleoproliferative disorder in pediatrics. This myleoproliferative disorder is characterized by excessive proliferation of megakaryocytes and sustained elevation of platelet count. Reactive thrombocytosis is a more common cause of elevated platelet counts among children. We describe a 2-year-old child with essential thrombocythemia, skeletal anomalies, and elevated thrombopoietin concentrations. The child's mother was also subsequently diagnosed with essential thrombocythemia and had elevated thrombopoietin concentrations. Chromosomal studies on the mother, child and other family members were normal.