Presentation
11 month old baby with large head and frontal bossing is now presenting with diminished vision.
Patient Data
Age: 11 months
Gender: Male
From the case:
Osteopetrosis - with calvarial involvement
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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.
From the case:
Osteopetrosis - with calvarial involvement
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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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