Abstract • 61

A four year old son of consanguinous parents was seen for evaluation of anemia and thrombocytopenia. He had received several transfusions of red cells and platelets in his home country. Steroids had stabilized his hemoglobin content and platelets count at 9.7g/dl and 118,000/µl, respectively. The WBC was 6,700/µl with normal peripheral smear, reticulocytes were 22‰. There was a prominent hepatosplenomegaly (6 and 5 cm below costal margin).

Omitting the steroids the hemoglobin concentration and the platelet count dropped to 6.4g/dl and 50,000/µl, respectively. Now the peripheral smears showed anisocytosis, poikilocytosis and tear drop forms of red cells. The bone marrow aspiration revealed hypoplasia with decreased M/E ratio, prominent lymphopoiesis and no megakaryocytes. There was a normal differentiation of both the myeloid and erythroid line. Bone marrow biopsy showed decreased myelo- and megakaryopoiesis and dysplastic erythropoietic cell nests. The bone trabecules were thickened and were lined by osteoblasts. Increased fibrosis was evident. X-ray analysis showed diaphyseal dysplasia and moderate osteosclerosis of the long bones (ulna and femur), but no osteosclerosis of the skull. Infectious etiology, disturbances of cellular or humoral immunity, hemolytic activity, and bcr/abl rearrangement were excluded. There were obvious signs of increased bone turnover (elevated serum alkaline phosphatase and urinary hydroxyproline). Steroid medication resulted in a normalisation of all parameters.

We initially assumed the diagnosis of Camurati-Engelmann disease, but we had to change it. This case will serve for a extended discussion of the differential diagnosis of bone dysplasias and hematological abnormalities.