Camurati Engelmann Syndrome

Camurati-Engelmann syndrome or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by symmetrical progressive sclerosis of long bones cortical diaphysis. Its presentation and progression is extremely variable. A patient of 3 years presented with right sided torticollis with developmental delay and generalised bony tenderness. It was associated with mild anemia, raised Alkaline phosphatase and Vitamin D insufficiency. Radiological investigations and a bone scan helped us in arriving at the diagnosis. Treatment was given in the form of oral steroids.