(Kiosk 1) Type IV Osteogenesis Imperfecta with Fracture Shaft of Femur of Bilateral Lower Limbs

Case Diagnosis: A case of type IV osteogenesis imperfecta with fracture shaft of femur of bilateral lower limbs in a 24 year old man.

Case Description or Program Description: The patient presented with complaints of pain in the thigh region. After a car accident, he developed bilateral pain in his thighs, but was more severe on his left side. The left-side pain was sharp in nature and non-radiating, but was aggravated by movement and not associated with thigh swelling. He was unable to bear weight or walk. On examination, gross deformity in the right upper and lower limbs was observed. Tenderness was present over the right thigh and left hip region. His left hip ROM was painful and restricted and his knee ROM was terminally painful. An x-ray of the femurs suggested fracture of the femur shaft bilaterally. He also had frontal bossing, low-set ears, missing teeth, broad wrists, pectus carinatum, costochondral junction enlargement, and knock knees. These clinical findings led us to the diagnosis of type IV osteogenesis imperfecta (OI).

Setting: Tertiary care hospital

Assessment/Results: The patient was treated with skin traction for his lower limbs and was prescribed sodium bicarbonate tablets, vitamin D3 supplements, calcitriol, and zoledronic acid. We recommended a protein-rich diet, and increased exposure to sunlight. At follow up, tenderness decreased to 2/10, and left hip and knee ROM was less painful. The patient was recommended follow up in 2 weeks.

Discussion (relevance): We present the case of a patient with type IV OI with fracture of the femur shaft of both lower limbs. Our goal is to raise awareness of type 4 OI, injuries associated with the disease, and treatment.

Conclusions: OI is a group of rare, inherited connective tissue disorders with collagen mutations resulting in excessive fragility of bones. Patients are given medications and require rehabilitation for a better quality of life and restoration of function.