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

Abstract

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.

Clinical characteristics and treatment outcomes in Camurati–Engelmann disease

“…Deflazacort is a glucocorticoid derived from prednisolone and is reported to be useful in patients with CED, with fewer adverse effects. [ 24 ] We applied deflazacort to our patients, and found it to be effective in relieving pain and inflammation, as evidenced by the ESR decrease without any adverse effects. Recently, losartan, an angiotensin II type 1 receptor antagonist that downregulates the expression of TGFβ type 1 and 2 receptors, has been applied to patients with CED.…”

Skull Base Manifestations of Camurati-Engelmann Disease

“…Multiple isolated reports document improvement in lower extremity gait coordination, muscle pain, exercise tolerance, and appetite after corticosteroid administration. 14,21,[39][40][41][42][43][44][45][46][47][48][49]176 Radiographic and histological reversal of disease has been described in select cases, 40,42,46,48 whereas others report no such improvements. 49 Bisphosphonate therapy has been met with less success; few reports document improvement, 50 whereas most report no change 51,52 or detrimental effects.…”

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation

“…Corticosteroids may relieve some of the symptoms such as pain and weakness. They can also improve gait, exercise tolerance and flexion contractures and correct anemia and hepatosplenomegaly [Lindstrom, ; Baş et al, ; Wallace et al, ]. However, they have significant side effects including decrease in bone density, stimulation of TGF β 1 expression and inhibition of TGF β 1 induced transcription of other target genes [Janssens et al, ].…”