Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease)

• Published in: Journal of paediatrics and child health Vol. 35; no. 4; pp. 401 - 405
• Main Authors: Baş, F, Darendeliler, F, Petorak, İ, Sadikoğlu, B, Bilir, A, Bundak, R, Saka, N, Günöz, H
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Science Pty 01.08.1999; Blackwell
• Subjects: Anti-Inflammatory Agents - therapeutic use; Biological and medical sciences; Camurati-Engelmann disease; Camurati-Engelmann Syndrome - diagnosis; Camurati-Engelmann Syndrome - drug therapy; Child, Preschool; deflazacort; Diseases of the osteoarticular system; Humans; Male; Medical sciences; Miscellaneous. Osteoarticular involvement in other diseases; prednisolone treatment; Pregnenediones - therapeutic use; progressive diaphyseal dysplasia; Treatment Outcome; Case study; Progressive; Corticosteroid; Chemotherapy; Deflazacort; Treatment; Diseases of the osteoarticular system; Diaphyseal dysplasia Camurati Engelmann; Osteochondrodysplasia
• ISSN: 1034-4810; 1440-1754
• DOI: 10.1046/j.1440-1754.1999.00381.x

: Progressive diaphyseal dysplasia (PDD), a rare disorder of bones, in recent years has been accepted as a systemic disease within the spectrum of connective tissue disorders associated with immunological abnormalities. Steroids have been used in the treatment of PDD with variable success. In this report PDD is described in a 5‐year‐old boy who presented with leg pain, fatigue, headache and anorexia with an onset in infancy. Physical examination revealed a waddling gait, thorax deformity and thickening in the upper extremities. The diagnosis was made by radiologic demonstration of cortical thickening and a narrowed medullary cavity of the long bones of extremities. Bone scintigraphy showed areas of increased osteoblastic activity in the diaphyseal part of the long bones of extremities and the skull. Electron microscopic examination revealed myopathic and vascular changes. Serum immunoglobulin A, G and M levels were elevated and CD4 positive T cell numbers were low. Deflazacort, a steroid with a similar anti‐inflammatory effect to prednisolone but with fewer adverse effects, was started in a dose of 1.2 mg/kg/day. Deflazacort treatment resulted in clinical and radiological improvement within 12 months with no side effects. In conclusion, steroids may be recommended as an effective method of treatment in PDD and deflazacort may be a safe alternative steroid.