Bone Pathology Database

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2nd image
X ray R femur
Third image
X ray L Femur
4th image
Magnetic Resonance
Note that the whole skeleton especially the spine appears sclerotic on X rays. The most recent fixations of the femoral fractures can be seen The transverse fracture line is still visible 18 months after the intermedullary fixation was done to her right femur. The femoral shafts are bowed.
The MRI of the cervical spine shows a syrinx present - the reason for the neurological fallout mentioned.

Diseases with widespread increase in bone density

In the Northern Cape flouride is a common contaminant of ground water and in South Africa flourosis is not an uncommon cause of increased bone density. Because of the positive family history of drawfism in this case Pycnosysostosis is the diagnosis. The spinal x rays show increased density but no "bone within a bone" appearance as with osteopetrosis.

Pycnosysostosis is a rare hereditary bone abnormality characterised by increased bone density, short stature, hypoplasia of the mandible and dysplasia of the skull bones. Bowed femurs and coxa vara are common. The bone is brittle resulting in pathological fractures.

The development of a syrinx, as in this patient, is a complication seen in sclerosing bone diseases1, due to bony overgrowth.

 

Reference
1. Ralph SL. Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective. American Journal of Medical Genetics 1997;69:33-43.






Record 121