Case 10

A 1-month-old boy presented to the emergency department. His parents said he was not moving his left leg. This was confirmed on clinical examination, which also showed that he had blue sclerae. His clinical examination was otherwise essentially normal although he disliked being lifted up. A skeletal survey showed multiple fractures, including rib fractures and bilateral clavicle fractures. There was no evidence of altered bone shape or texture; the vertebrae looked normal. The skull x-ray showed small (<0.5 cm diameter) wormian bones. While there was no reported family history of bone disease, his parents insisted that he must have osteogenesis imperfecta because he had blue sclerae. https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10a.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10b.jpg"/> 20 https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10c.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10d.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10e.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10f.jpg"/> https://s3-euw1-ap-pe-df-pch-content-public-p.s3.eu-west-1.amazonaws.com/9780429170423/e1d751c1-a9c7-4bb9-9d59-53742c84031a/content/fig10g.jpg"/>

What is the aetiology of this patient’s multiple fractures?

22The types of fractures on this infant’s skeletal survey are consistent with non-accidental injury rather than with bone disease. The left leg fracture is healing (Image 10a) and there are additional changes on the right side concerning for fractures (Image 10b). There are several rib fractures (Images 10c and 10d), which are vanishingly rare in osteogenesis imperfecta (OI) presenting at this age. ¹ This number of fractures with an underlying diagnosis of OI would mean that the OI was severe in which case vertebral changes should also be expected. Clavicle fractures are possible in OI but are likely related to birth (Image 10e). Blue sclerae are perfectly normal up to age 6 months; Wormian bones (Images 10f and 10g) are commonly seen and of no significance. In view of the number, type and sites of fractures, the clinical signs in this case make non-accidental injury highly likely. While an extensive workup for underlying bone disease is indicated (including testing for OI), steps should be taken to report this case to Child Protective Services and to ensure the child’s safety pending further medical investigation. ²