Tc99m-MDP bone scintigraphy in Engelmann-Camurati disease.

Engelmann-Camurati disease (ECD) is a rare bone disorder characterized by autosomal dominant inheritance. It usually presents in early childhood and is associated with symmetrical diaphyseal sclerosis. We report a 20-year-old female with scintigraphic findings characteristic of ECD. She was treated with corticosteroids and showed marked clinical improvement.

INTRODUCTION

Engelmann-Camurati disease (ECD) is an autosomal dominant bone disorder caused by mutations in the TGF1 gene[1] and is characterized by progressive bilaterally symmetrical diaphyseal sclerosis of the long bones. It presents prenatally or early during childhood with severe deformities and dwarfism and is characterized by marked thickening of the cortices limited to the diaphyseal regions of tubular bones, occurring on both periosteal and endosteal surfaces.[2] It usually presents in young children with gait disturbance and limb pain and deformity. Autosomal dominant transmission has been noted.[3] Scintigraphically, ECD presents as an increased tracer uptake in the diaphyses of the long bones with sparing of the metaphyses and epiphyses, with corresponding sclerosing dysplastic changes in X-rays.[4-6] This pattern of involvement of the diaphyses with sparing of the metaphyses and epiphyses is characteristic of ECD.[7]

CASE REPORT

We report a 20-year-old female, who presented with generalized weakness, dull aching pain in the legs and difficulty in waking. Neurologic work up was within normal limits. Bone marrow examination, performed to exclude malignancy, revealed normal bone marrow. Bone scintigraphy was diagnostic of ECD [Figure 1]. She was treated with corticosteroids and physiotherapy and showed marked improvement clinically.

Figure 1

Whole body bone scintigraphy images taken 3 hours after intravenous injection of 20 mCi of 99m-Tc-Methylene diphosphonate show increased symmetrical tracer uptake in diaphyses of bilateral femurs and tibiae. Increased tracer uptake is also noted in the proximal humeri. Scoliosis is also noted