Definition
an inherited, diffuse bone disease that results in sclerotic thickening of the skeleton on radiological examination
Etiology
Pathophysiology
Clinical features
- Recurring pathological fractures (osteopetrotic bone tissue is very dense but brittle)
- Cranial nerve disorders (e.g., palsies) due to hyperostosis and stenosis of the cranial nerve foramina
- Pancytopenia due to reduced marrow space
- Hepatosplenomegaly due to extramedullary hematopoiesis
Diagnostics
- X-ray: symmetrical, homogenous, sclerotic thickening of both cortical and trabecular bone (stone bone)