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A 3 year old male presented with inability to run, waddling gait, and progressive lethargy for one year. There was bowing of lower limbs, proximal muscle wasting, and preserved deep tendon reflexes and sensations.
Serum calcium, phosphorus, alkaline phosphate, and creatinine phosphokinase were normal, with moderate anaemia and raised ESR. On skeletal survey, cortical thickening and sclerosis of diaphyses of long bones and skull bones (fig 1), diagnostic of Engelmann-Camurati disease, was seen. Tc99m MDP bone scan (fig 2) revealed symmetrically increased osteoblastic activity in diaphyseal areas of humeri, femori, tibia, forearm bones, phalanges, and skull bones.