Multiple transverse fractures as a presentation of osteopetrosis

Clinical Cases 15.08.2002
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 18 years, male
Authors: TZ Win, K Mitra, V Prabhudesai, MA Siddiqui
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Clinical History

Multiple transverse fractures.

Imaging Findings

The patient presented with multiple fractures of the appendicular skeleton which needed open reduction and internal fixation.

Discussion

Osteopetrosis is a rare hereditary bone disorder that presents in one of three forms: osteopetrosis tarda, osteopetrosis congenita and marble bone disease.

Osteopetrosis tarda, the benign form, is autosomal dominant and presents in adulthood with an increased susceptibilty to fracture. Healing is normal, and 50% of patients are asymptomatic.

Osteopetrosis congenita is autosomal recessive and presents in infancy. The prognosis is poor. There is severe bone marrow failure and growth retardation. This is complicated by blindness, hydrocephalus and deafness.

Marble bone disease is also autosomal recessive, and presents in childhood with renal tubular acidosis, intracranial calcification, sensorineural hearing loss and psychomotor retardation. There are no features of bone marrow failure. The prognosis is poor.

The radiological features of osteopetrosis include diffuse osteosclerosis, cortical thickening and medullary encroachment. 'Bone within bone' appearance, sandwich vertebrae and Erlenmeyer flask deformity are also described.

Common complications include transverse fractures with abundant callus formation, and bone marrow failure. Acute leukemia is a recognised complication.

Osteopetrosis tarda requires no treatment per se except for the fractures. Several treatments have been described for the malignant form including marrow transplant, which is the only cure for osteopetrosis congenita.

Differential Diagnosis List

Osteopetrosis

Final Diagnosis

Osteopetrosis

Liscense

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