Osteopetrosis - with calvarial involvement

Case contributed by Mohammad A. ElBeialy


11 month old baby with large head and frontal bossing is now presenting with diminished vision.

Patient Data

Age: 11 months
Gender: Male

The skull bones are thickened and dense; predominantly at the skull base with compression of the optic nerve canals and other skull base fissures and foramina.  Findings are consistent with skull osteopetrosis.

Normal MRV of the brain.

Case Discussion

Osteopetrosis (or Albers-Schonberg disease) is a rare hereditary disorder that results from defective osteoclasts. Bones become sclerotic and thick, but their abnormal structure results in them being both weak and brittle.

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