Camurati-Engelmann-Syndrom
![](https://pacs.de/sites/default/files/pictures/thumbs/data.pacs.de/9/3/2/0/6/engelmans01mdhipkneelowerextpln_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/www.eurorad.org/9/3/5/1/6/000002_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/www.eurorad.org/9/3/5/1/7/000003_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/www.eurorad.org/9/3/5/1/8/000005_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/www.eurorad.org/9/3/5/1/9/000012_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/data.pacs.de/1/2/3/6/1/3/49eff0c35402a3ed92b672f94ecf0c_big_gallery_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/data.pacs.de/1/2/3/6/1/4/661d93ae5a9cc244bee653d28f99a0_big_gallery_thumb.jpg)
![](https://pacs.de/sites/default/files/pictures/thumbs/data.pacs.de/1/2/3/6/1/5/0b1e2f4ffde5ff8fccf38cb6ab4d84_big_gallery_thumb.jpg)
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.
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 .
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
- the epiphyses are spared
Nuclear medicine
- affected regions show high uptake with Tc-MDP bone scintigraphy representing osteoblastic activity
Treatment and prognosis
Complications
- progressive stenosis of the optic canals and compressive optic neuropathy can give papilledema
History and etymology
It is named after :
- M Camurati, Italian physician
- G Engelmann, German physician
Differential diagnosis
General imaging differential considerations include:
- van Buchem disease
- osteopetrosis
- Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age
Siehe auch:
und weiter:
![Click für weniger anzeigen](/sites/all/modules/pacs/tools/imgs/collapse_up.png)
![](/sites/all/modules/pacs/tools/imgs/Iris_color_40.png)