Purpose
We present a case report detailing what is believed to be the first total hip replacement in a patient with Camurati-Engelmann's disease.
Methods and Materials
Camurati-Engelmann disease is a rare autosomal-dominant disease characterised by progressive hyperostosis of the long bones and skull.
There are approximately 200 known cases world-wide.
We present an interesting case report detailing what is believed to be the first total hip replacement in a patient with Camurati-Engelmann disease.
A literature research revealed that there were no previous cases of this nature and therefore adequate pre-operative planning was difficult.
Although the operation itself was technically challenging the final outcome was good and the patient was symptom free...
Results
We present a right cemented Charnley total hip replacement for osteoarthritis in a 55 year old patient with Engelmann’s disease.
A literature research revealed that there were no previous cases of this nature in the literature and adequate pre-operative planning was therefore performed with a thorough discussion with the patient.
Pre-operative x-rays (figures 1-9) demonstrated deformities of the long bones typical of Camurati-Engelmann's disease; marked diaphyseal cortical thickening resulting in uneven increased diameter and somenarrowing of medullary canal.
There is osteoarthritis of the hip and...
Conclusion
Camurati-Engelmann's disease (also known as Engelmann’s Disease,
Engelmann’s Syndrome,
Progressive diaphyseal dysplasia,
Diaphyseal dysplasia,
CED) is a rare autosomal dominant disease which mainly affects the bones of the body.
There is hyperostosis particularly in the long bones of arms and legs,
and in the skull.
This increased bone density causes severe limb pain,
proximal muscle weakness and fatigability,
joint contractures,
and a wide-based,
waddling gait.
Involvement of the skull can lead to headache,
cranial nerve impingement (manifesting for example as facial palsy,
hearing loss,
visual...
References
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Wallace SE,
Wilcox WR.
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Bird TD,
Dolan CR,
Stephens K.
Camurati-Engelmann Disease.
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2004 Jun 25 [updated 2010 Jun 01].
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Janssens K,
Vanhoenacker F,
et al.
Camurati-Engelmann disease: review of the clinical,
radiological,
and molecular data of 24 families and implications for diagnosis and treatment.
J Med Genet. 2006 Jan;43(1):1-11.
Epub 2005 May 13.
3.
Wallace SE,
Lachman RS,
Mekikian PB,
Bui KK,
Wilcox WR.
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report...