[MIM 131 300, 606 631]

(progressive diaphyseal dysplasia)

Rare. Autosomal dominant transmission of a mutation of the  TGF-β1 gene on 19q13.1 in 90 % of cases. The remaining 10 % are sometimes referred to as type II Camurati-Engelmann syndrome. For some experts, Camurati-Engelmann syndrome and Ribbing syndrome (recessive transmission, later onset, asymmetric disease sparing the bones of the skull) are two phenotypes of the same condition. This bone dysplasia causes excessive bone formation in long bones and the base of the skull. It causes bone pain aggravated by exertion and accompanied by muscle weakness resulting in delayed  walking (3-4 years), headache, and the gradual emergence of deficiencies of the cranial nerves: loss of hearing (19 %), bumps on the forehead, facial paralysis, but also exophthalmos (9 %), increased volume of the jaw. The affected bones are paradoxically fragile and fractures are common. A delayed puberty, a cachectic appearance with a  larger than average stature are frequently observed. Sometimes: Raynaud's phenomenon. Later: scoliosis and kyphosis. 

Radiology: fusiform and symmetric thickening  of the diaphyses of long bones with reduction of their medullary canal.

Treatment: long-term corticosteroid therapy improves pain and  X-Ray pictures.

Anesthetic implications: 

check complete blood count (anemia ? thrombopenia ?), mobility of the neck and the mouth opening; fragile bones: risk of pathological fractures; effects of long-term corticosteroid therapy ; in case of hepatosplenomegaly, check liver function. Avoid hypothermia (Raynaud phenomenon).

References : 

-          Bartuseviciene A, Samuilis A, Skucas J. 
Camurati-Engelmann disease : imaging, features and differential diagnosis. 
Skelethal Radiol 2009; 38:1037-43.

-         Passariello M, Almenrader N. 
Anesthesia for a child with Camurati-Engelmann disease. 
Pediatr Anesth 2013 ; 23 : 464-5.

Updated: November 2019