Camurati-Engelmann disease

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

Waddling gait

Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


Total: 5

                      


(per page)
PMID (PMCID)
26649122
(4661483)
OTHER
Visual and otologic manifestation of Camurati-Engelmann's disease: a case report.
Alam T, Khurram M, Hamidi H, Khan AA.
Radiol Case Rep. 2015;10(4):61-4.
Most patients of CED (also known as progressive diaphyseal dysplasia and oeteopathica hyperostotica multiplex infantalis) present with extremity pain, muscle weakness, and waddling gait.
22372177
MIXED_SAMPLE Adult
Camurati-Engelmann disease--a rare cause of bone pain.
Mundra V, Taxel P.
Conn Med. 2012;76(1):33-7.
Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal pain.
15959620
MIXED_SAMPLE Adult
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC.
Osteoporos Int. 2005;16(9):1167-70.
This brought us to the diagnosis of progressive diaphyseal dysplasia (PDD) or Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by limb pain, reduced muscle mass, weakness, a waddling gait, progressive periosteal and endosteal sclerosis of the diaphyses of the long bones and sclerosis of the skull base.
15959620
MIXED_SAMPLE Adult
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC.
Osteoporos Int. 2005;16(9):1167-70.
This brought us to the diagnosis of progressive diaphyseal dysplasia (PDD) or Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by limb pain, reduced muscle mass, weakness, a waddling gait, progressive periosteal and endosteal sclerosis of the diaphyses of the long bones and sclerosis of the skull base.
2732328
MALE
Progressive diaphyseal dysplasia presenting as neuromuscular disease.
Stenzler S, Grogan DP, Frenchman SM, McClelland S, Ogden JA.
J Pediatr Orthop. 1989;9(4):463-7.
Two children with progressive diaphyseal dysplasia (Engelmann's disease) were initially diagnosed as having a neuromuscular disorder because of their clinical presentations of muscle weakness, a waddling gait, and limb pain.