Osteopetrosis
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Diagnosis probable
Presentation
Left shoulder pain.
Patient Data
Age: 5 years
Gender: Male
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Widespread dense osteosclerosis of the skeleton.
Linear undisplaced fracture of the left humerus metaphysio-diaphyseal region.
After 9 months presented with left foot pain.
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Widespread dense osteosclerosis of the foot and lost bony cortico-medullary differentiation.
Undisplaced fracture of the proximal phalanx of the 4th toe.
Case Discussion
Generalized 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.
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