INCIDENTAL FINDING OF A PROGRESSIVE DIAPHYSEAL DYSPLASIA (CAMURATI-ENGELMANN SYNDROME)

In a 35 year-old female diaphyseal hyperostoses of femur and tibia indicative of a Camurati-Engelmann syndrome (progressive diaphyseal dysplasia) were discovered during routine phlebography. This rare disorder belongs to the group of osteochondrodysplasias and affects primarily the diaphyses of long bones. Sporadic as well as familial cases have been observed. Although the cause and pathogenetic mechanism of the disease are unknown, an autosomal dominant inheritance is being discussed. Diagnosis was based on radiological findings, which are presented along with the scintigraphic appearance of the disease.