Insights Into Management of Camurati-Engelmann Disease: Case
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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. 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.

A 17-year-old Syrian man presented with lower extremity pain, proximal muscle weakness, and muscular wasting. His symptoms were attributed initially to a muscular dystrophy of unknown etiology. Physical exam was notable for a very thin man with short stature, decreased muscle mass in upper and lower extremities, lack of subcutaneous fat, and pain to palpation of all extremities. Lower extremity radiographs demonstrated marked osteopenia and patchy lucencies scattered along the tibia and fibula bilaterally, as well as medial bowing of the fibula.

Osseous survey revealed generalized osteopenia that was most pronounced in long bones, with sparing of skull . Spine radiographs showed 14 degrees of thoracolumbar dextroscoliosis. Dual-energy X-ray absorptiometry confirmed osteopenia with bone mineral density z-scores of -3.6 and -3.5 of the lumbar spine and total body less head respectively.

His osteopenia was treated with two bisphosphonate infusions (zoledronic acid, 0.0125 mg/kg/dose) 7 weeks apart. Genetics consultation was obtained and the diagnosis of CED was made based on clinical symptoms, radiographic findings, and family history. The diagnosis of CED was confirmed with genetic testing. He was started on a once daily dose of prednisone 30 mg, and his pain was monitored. He reported 4 of 10 pain at the initiation of prednisone which decreased to 2 of 10 and ultimately resolved after 3 months of therapy.

Unfortunately, he experienced significant weight gain of 8.4 kg over 3 months of prednisone use and was subsequently transitioned to once daily losartan 37.5 mg (0.94 mg/kg). He was then transitioned to once daily deflazacort 30 mg (0.70mg/kg), a newer glucocorticoid with a favorable side effect profile over prednisone. Treatment with deflazacort improved pain to a score of 2 of 10 and he reported subjective improvement in his ability to ambulate. His pain increased over time but responded well to an increase in deflazacort dosing to 39mg (1.13 mg/kg). He has not experienced weight gain while on deflazacort.

Source: https://theijcp.org/index.php/ijcp/article/view/403/350
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