Abstract 56: A case of (probable) Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a 5 yr old child

Introduction: Camurati-Engelmann disease (CED) also known as progressive diaphyseal dysplasia, is a rare autosomal dominant type of bone disease with variable penetrance. It belongs to the group of sclerosing bone dysplasia and is due to increased intramembranous bone formation. Case Presentation: A 5 yr old boy presented with complain of recurrent fractures following trivial trauma since 9 months age. Most common site of fracture is left tibia and other fractures were also in lower limb. Patient also complains of progressive gait abnormality since age of 2.5 yrs. Patient was born out of nonconsanguineous union at term by normal vaginal delivery with unremarkable birth history. No history of similar complains in other family members. On examination, there is deformity of both lower limb (left > right). There is no blue sclera, hearing loss, spinal deformity, rachitic features or proximal myopathy. Investigation: X ray (skeletal survey)- Bilateral and symmetrical cortical thickening of diaphysis of long bones. Epiphysis and metaphysis are spared. No osteosclerosis at skull base, mandible and axial skeleton. Relevant biochemical and hormonal investigations are normal. Bone scintigraphy showing increased tracer uptake in shaft of both femur, tibia and proximal part of both forearm. Based on clinical and radiological finding diagnosis of CED is made (mutational analysis report is pending). Discussion: CED is rare genetic disorder, most cases due to TGFβ1 gene mutation. The presenting symptoms include pain in extremities, waddling gait, muscle weakness and rarely hearing loss. The hallmark of the disorder is bilateral symmetrical cortical thickening of the diaphyses of the long bones with sparing epiphysis. Several reports have described successful treatment with short-term corticosteroids. [INLINE:1]