Osteogenic sarcoma complicating osteogenesis imperfecta tarda

We describe the case history of a 13 years old boy who developed osteogenic sarcoma of the left thigh, six years after diagnosis of osteogenesis imperfecta tarda with a positive family history. Only four other patients with this disease combination are reported in the literature. Preoperative treatment with high-dose Methotrexate caused marked tumor regression, as shown at examination of amputation material. The inter-relationships between the two disorders are discussed and the literature is briefly reviewed.