Presentation
Left shoulder pain.
Patient Data
Widespread dense osteosclerosis of the skeleton.
Linear undisplaced fracture of the left humerus metaphysio-diaphyseal region.
After 9 months presented with left foot pain.
Widespread dense osteosclerosis of the foot and lost bony cortico-medullary differentiation.
Undisplaced fracture of the proximal phalanx of the 4th toe.
Case Discussion
Generalised increase in bone density with loss of cortico-medullary differentiation is typical for osteopetrosis. It is a rare hereditary disorder resulting from defective osteoclasts. It leads to weak bones and recurrent fractures.
Differential diagnosis is sclerosing bone dysplasias as pyknodysostosis.