Fact-sheet: Osteopetrosis
Updated on 03/25/2020 at 11:43 AM
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Definition
Group of disorders due to decreased bone resorption resulting from osteoclast dysfunction.
There are two main forms:
- the malignant infantile form, with uniform osteosclerosis of the skeleton and metaphyseal modeling defects
- the juvenile or adult form, with uniform osteosclerosis, "rugger jersey" osteosclerosis of the spine, with a "bone-within-bone" appearance.
Clinical features
Muscle weakness.
Pain in case of fracture.
Growth disturbances in the infantile form.
Radiography
- Osteosclerotic appearance -
"Rugger jersey" appearance of the vertebral bodies on lateral spine radiographs.
- Fractures
CT
Thickening of the bone cortex.
MRI
Bone marrow hypointense.
T2: hyperintense areas of hematopoietic hyperactivity.
Management
Treatment: calcium restriction, PTH analog, corticosteroids
Bone marrow transplantation in the infantile form
Differential diagnosis
Renal osteodystrophy
Paget disease
Myelofibrosis
Bone metastases from a solid cancer