[Atypical congenital dyserythropoietic anemia]

The case is presented of a 26-year-old male patient suffering from chronic anemia since infancy. At age 12 (1972), congenital dyserythropoietic anemia (CDA) was diagnosed which could not be grouped with one of the three known variants of CDA. From onset the disease was complicated by thrombocytopenia with severe hemorrhagic diathesis. After splenectomy (1972) an extremely enlarged accessory spleen was removed in 1985 disclosing, histologically, excessively developed extramedullary hematopoiesis. Since bone marrow biopsy showed massive hyperplasia, the cellular phase of a myeloproliferative syndrome could not be excluded by histology alone.--Only a few cases of CDA with involvement of granulocytes and megakaryocytes have been reported so far. It is not clear whether or not they should be classed with CDA. In any event, involvement of granulopoiesis and/or thrombopoiesis indicates a genetic lesion of very early precursors, perhaps stem cells. It is proposed that such variants would be more correctly designated "congenital dyshematopoietic syndromes".