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Osteopetrosis

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

There are two separate sub types of osteopetrosis:

Clinical presentation

Presentation in the majority of cases is with fracture because of the weakened bones. They are often transverse fractures with multiple areas of callus formation and normal healing.

Additionally, there is crowding of the marrow, so bone marrow function is affected resulting in myelophthisic anaemia and extramedullary haematopoiesis with splenomegaly. This may terminate in acute leukaemia.

Pathology

Both forms are congenital abnormalities with localised chromosomal defects. These result in defective osteoclasts and overgrowth of bone. The bones become thick and sclerotic, but their increased size does not improve their strength. Instead, their disordered architecture, results in weak and brittle bones. The osteoclasts lack carbonic anhydrase which may play a role in the disease.

Treatment and prognosis

Treatment is with bone marrow transplant and resultant normalisation of bone production. Prognosis for the AD adult subtype is good with a normal life expectancy. However, the AR infantile sub type can result in stillbirth or death in infancy: few patients live past middle-age.

Radiographic features

The features are dependant on the sub type of osteopetrosis and are detailed in the individual articles:

Differential diagnosis

General imaging differential considerations include

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