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Bone density measurements by computed tomography in osteogenesis imperfecta type I.
1Department of Pediatrics, Wright State University Scool of Medicine, Dayton, Ohio, USA.
Summary
Osteogenesis imperfecta type I (OI-type I) shows evolving bone density changes from childhood to adulthood. Computed tomography (CT) bone density measurements can identify OI-type I in infants with unexplained fractures.
Area of Science:
- Orthopedics
- Radiology
- Genetics
Background:
- Osteogenesis imperfecta type I (OI-type I) is a genetic disorder characterized by bone fragility.
- Accurate diagnosis is crucial, especially in infants presenting with unexplained fractures, to differentiate from non-accidental trauma.
Observation:
- Computed tomography (CT) bone density measurements, including cortical bone density (CBD) and trabecular bone density (TBD), were analyzed in 14 individuals with OI-type I (8 months to 45 years) and over 1000 controls.
- A unique case involved a 4-month-old infant with multiple unexplained fractures, initially suspected of abuse, who was later diagnosed with OI-type I.
Findings:
- Infants and children with OI-type I exhibited low CBD and low TBD compared to controls.
- Adults with OI-type I showed low TBD but high CBD.
- The infant with unexplained fractures presented with a bone density profile of low TBD and low CBD, consistent with OI-type I.
Implications:
- CT bone density measurements reveal distinct, age-dependent bone density profiles in OI-type I, potentially explaining reduced fracture frequency in adulthood.
- These measurements are valuable tools for diagnosing atypical OI-type I presentations in infants with unexplained fractures, aiding in the distinction from child abuse.