“ Rare disease of abnormal osteoclast activity where there is failure of resorption and remodelling, leading to thickened, sclerotic bone th...
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Rare disease of abnormal osteoclast activity where there is failure of resorption and remodelling, leading to thickened, sclerotic bone that is weak and brittle. The autosomal recessive subtype causes stillbirth or death in infancy. The autosomal dominant type is commonly asymptomatic or may cause mild anaemia or cranial nerve palsies due to narrowing of the cranial foramina.
APPENDICULAR X-RAY
• Increased density of the bone medulla.
• ‘Bone within bone’ appearance.
• Alternating sclerotic and lucent bands in the metaphysis (striations).
• Metaphyseal widening and remodelling (Erlenmeyer flask deformity).
• Bony sclerosis + Erlenmeyer flask deformity = osteopetrosis.
• Patients are at increased risk of fractures, mal-union and non-union.
SPINE X-RAY
• Vertebral endplate sclerosis, ‘sandwich sign’ (similar to renal osteodystrophy, but sacroiliac joints are spared).
CHEST X-RAY
• Check proximal humeri for the Erlenmeyer flask deformity.
HEAD CT
• Sclerosis of the skull vault, which may cause hydrocephalus
• Optic nerve atrophy
• Subarachnoid haemorrhage
• Obliteration of the sinuses
Osteopetrosis. Frontal x-ray of the right lower limb demonstrating diffuse bony sclerosis and Erlenmeyer flask deformity of the distal femoral metaphysis.
Osteopetrosis. Lateral lumbar spine x-ray demonstrating vertebral endplate sclerosis.
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