Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.
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Clinical presentation
Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly 5.
Pathology
In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.
Distribution
Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.
Radiographic features
Plain radiograph
there is fusiform bony enlargement with sclerosis in long bones 6
the epiphyses are spared
Nuclear medicine
affected regions show high uptake with Tc99-MDP bone scintigraphy representing osteoblastic activity 4
Treatment and prognosis
Complications
progressive stenosis of the optic canals and compressive optic neuropathy can give optic disc swelling 7
History and etymology
It is named after 2,3:
M Camurati, Italian physician
G Engelmann, German physician
Differential diagnosis
General imaging differential considerations include:
Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age 1