Camurati -Engelman disease- a rare cause on bone scintigraphy: a case report and review of the literature

Abstract

Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by simmetrical progressive sclerosis of long bones cortical diaphysis. This disease is caused by mutation in the TGF?1 gene [1,2]. Considering the rarity of this disorder (to date around 300 affected individuals have been reported) [3], we would like to share Bosnian and Herzegovina patient diagnosis with CED. To the best of our knowledge, no case of CED has been reported in Bosnia and Herzegovina till date. We evaluated a 10-year-old girl had history pain in the left leg and difficult movement since age of four. During the time, neuromuscular disease was suspected, but not confirmed. Symmetrical enhanced uptake seen on technetium hydroxymethylene diphosphonate (99m Tc-HDP) bone scintigraphy at diaphyses of longitudinal bones and cortical thickening of long bones seen at radiograms. Those finding pointed to Camurati-Engelmann diagnosed misdiagnosed for the long time.