Proband and the Brother

Abstract

Introduction: Camurati-Engelmann disease (CED) is a rare autosomal dominant disease. It is characterized by hyperostosis of the long bones and the skull, Clinically patient will have limb pain, proximal muscle weakness a wide-based gait. The gene causing CED is located on chromosome 19, this region contains the gene encoding the TGF Beta -1. The diagnosis of CED is established in a proband with the characteristic radiographic findings and molecular genetic testing for TGF Beta-1 mutation. Treatment is with corticosteroids and Losartan.

Materials: A 40 year old lady presented with complaints of Left lower limb pain for 1 year duration. On examination there was tenderness of left greater trochanter, proximal and distal femur was present. Blood investigations showed high PTH and low Vitamin-D3. Imaging showed non specific sclerotic lesions in femur. As patient brother had limp since childhood genetic disorders were and a provisional diagnosis of sclerotic bone disease probable Progressive diaphyseal dysplasia was considered. PET-CT was done which revealed abnormal osteoblastic activity in both femurs, focal hyperostosis in humeral diaphysis suggestive of CED. She was tested Positive for TGF beta 1 mutation consistent with CED. He was started on LOSARTAN. On follow up patient is pain free.

Result: Her brother was also evaluated in view of his limp and he was also diagnosed as CED.

Conclusion: The diagnosis in this case was based on the clinical history, family history and characteristic radiological findings and genetic testing which confirmed TGF Beta-1 mutation. Family history is crucial in this case which led to diagnosis. References Van Hul W, Boudin E, Vanhoenacker FM, et al. Camurati Engelmann disease. Calcif Tissue Int 2019;104(5):554-560. Camurati-Engelmann Disease. NORD (National Organization for Rare Disorders); 2022.