Insights Into Management of Camurati-Engelmann Disease: A Case Series of Three Siblings

Abstract

Camurati-Engelmann disease (CED) is an autosomal dominant skeletal dysplasia characterized by progressive sclerosis of long bones due to a mutation in the transforming growth factor beta-1 gene. Patients experience progressive pain, weakness, and fatigability over time. There are no consensus guidelines for treatment though the use of several types of glucocorticoids, angiotensin II receptor blockers, and other therapies have been described. We present the cases of three siblings with CED managed with different treatment modalities over time (prednisone, losartan, and deflazacort). We provide objective data (pain scores, walk-test results, erythrocyte sedimentation rates) to demonstrate therapeutic efficacy. Prednisone resulted in the greatest improvement in pain; however, its use was limited by significant weight gain. Deflazacort was successful in improving pain and fatigability without the weight gain. Risks and benefits must be considered carefully as the cost of deflazacort is significantly higher than prednisone or losartan. Int J Clin Pediatr. 2020;9(4):130-134 doi: https://doi.org/10.14740/ijcp403