Osteopetrosis

Case contributed by Nikolay Balabin
Diagnosis certain

Presentation

Long-term bilateral lumbar pain.

Patient Data

Age: 65 years
Gender: Male
mri

Diffuse hypointense bone marrow signal of the vertebral bodies, arches, and articular and spinous processes of the lumbosacral spine. Sandwich vertebrae sign - diffuse endplate sclerosis (peripheral bony sclerosis). Severe degenerative changes decreased intervertebral discs.

Case Discussion

Marble bone disease is a rare hereditary disorder due to defective osteoclast function with failure of proper reabsorption, producing sclerotic bone. There are two types:

  1. infantile autosomal recessive type

  2. benign adult autosomal dominant type

Differential diagnosis should be made with renal osteodystrophy, fluorosis, melorheostosis

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