Imaging aspects of Camurati-Engelmann disease

Abstract

A 35-year-old female patient undergoing outpatient monitoring at the Specialist Medical Outpatient Clinic (AME, in portuguese acronym) in Mogi Guaçu, São Paulo, Brazil.Since childhood the patient has presented generalized pain in the body, mainly in the lower limbs, which has been more intense for the last 2 years, with no relation to physical effort, and which gets worse with changes in ambient temperature. Generalized weakness, reduced muscle strength and discreetly staggering gait have also been reported, as well the use of hearing aids. Faced with these symptoms, the patient sought successive health services, where she only received symptomatic treatment. Due to the persistence of the complaint, she underwent an X-ray of the lower limbs.Based on the radiographic changes found, bone scintigraphy and magnetic resonance imaging (MRI) examinations were requested. There are no known cases in the family. resultsThe MRI revealed exuberant diffuse cortical thickening in the bone diaphyses, increased diameter of both femurs, intramedullary and peripheral femoral hyperintensity focal areas in the T2 weighted sequences, with enhancement after infusion of the intravenous contrast medium, which may correspond to areas of edema or inflammatory activity. The contracting mass of the muscle and subcutaneous plane had a preserved signal (Figure 1).

Whole‐Body Magnetic Resonance Imaging in Camurati–Engelmann Disease

“…MRI is also as effective as CT for demonstrating hyperostotic bone and compressive effects on cranial nerves. (5) To the best of our knowledge, the use of WB-MRI in cases of Camurati-Engelmann disease has not been evaluated. However, previous reports have described the use of WB-MRI in other skeletal dysplasias such as Trevor disease.…”

“…MRI is also as effective as CT for demonstrating hyperostotic bone and compressive effects on cranial nerves. (5) This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.…”

Beyond Tympanomastoidectomy: A Review of Less Common Postoperative Temporal Bone CT Findings

“…Craniometaphyseal dysplasia and Camurati-Engelmann disease (progressive diaphyseal dysplasia) are two such examples that may necessitate internal auditory canal decompression due to seventh and eighth cranial nerve deficits. 24,25 Compressive effects may also be noted on other skull base foramina, cranial nerves, vessels, and brain stem. In these patients, internal auditory canal decompression is performed through the MCF approach to remove the superior and the anterior portions of the petrous bone.…”

Progressive diaphyseal dysplasia: a rare bone disorder with alarming radiographs

“…1,2 Progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease, is a disease belonging to this entity. [3][4][5] It is an autosomal dominant disorder due to mutation in transforming growth factor-β1. This in turn leads to a disorder of intramembranous ossification, and results in hyperostosis.…”