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Case 12-1: Osteogenesis imperfecta

Patient Presentation

A 7-year-old fell from a low height while playing on monkey bars. The patient was complaining of low back pain. The patient had a history of three previous fractures: a tibial fracture, distal femur fracture, and a metatarsal fracture. Blue sclera had been noted in past physical examinations, but no formal diagnosis of osteogenesis imperfecta had been made.

Figure 12-2.

Lumbar spine x-ray. WA = compression fractures

Clinical Features

The patient had focal tenderness to palpation of the lower thoracic and upper lumbar spine with no deformity noted. Neurologic examination revealed intact sensation and motor function to the lower extremities. Of note, the sclera had a bluish tinge.

Differential Dx

  • Musculoskeletal injury to the axial skeleton, including fractures, contusions, and sprain

Emergency Care

X-ray with lateral view of the lumbar spine revealed compression fractures to T12, L1, and L2. The patient’s pain was managed with analgesics.

Outcome

The patient was admitted to the hospital. The fractures were thought to be stable, and the patient was fitted with a TLSO brace. The patient was then referred to an outside institution for genetic testing and counseling for osteogenesis imperfecta.

Key Learning Points

  • The patient had a history of three fractures following relatively minor injuries, and now presented with vertebral compression fractures at 7 years of age. Blue sclera, coupled with the fracture history, makes the clinical diagnosis of osteogenesis imperfecta likely.

  • There are other diseases that can lead to multiple fractures in children, including child abuse, rickets, osteomalacia, and numerous other skeletal syndromes causing bone fragility.

Further Reading

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Forlino  A, Marini  JC. Osteogenesis imperfecta [Review]. Lancet. 2016;387(10028):1657–1671.  [PubMed: 26542481]
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Harrington  J, Sochett  E, Howard  A. Update on the evaluation and treatment of osteogenesis imperfecta [review]. Pediatr Clin North Am. 2014;61(6):1243–1257.  [PubMed: 25439022]
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Korula  S, Titmuss  AT, Biggin  A, Munns  CF. A practical approach to children with recurrent fractures [review]. Endocr Dev. 2015;28:210–225.  [PubMed: 26138844]

Case 12-2: Osteopoikilosis

Patient Presentation

A young patient presented with lower leg trauma.

Figure 12-3.

Tibia x-ray. WA = punctate sclerotic foci

Clinical Features

There was focal tenderness to palpation of the anterior lower tibia associated with mild swelling but without skin abnormalities or bony deformity.

Differential Dx

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