Musculoskeletal manifestations of mild osteogenesis imperfecta, a case with ankylosing spondylitis / 中华风湿病学杂志

ABSTRACT

Objective We reported a case of osteogenesis imperfecta (OI) concurrent with ankylosing spondylitis (AS) and reviewed the literature to investigate the Musculoskeletal manifestations of OI.Methods A 27 years old male patient was admitted to department of rheumatology,Qilu hospital with complaints of left hip and low back pain accompanied with morning stiffness.He had pain and gradual limitation in range of motion of the spine for 2 years and symptomatic exacerbation nearly 8 months.His mother,aunt,daughter and son suffered from OI as well.Clinical examinations revealed blue sclera but hearing and teeth were normal.He had typical AS appearance and severe deformities of left hip joint.His erythrocyte sedimentation rate (ESR) was 32 mm/1 h,C-reactive protein (CRP) was 9.00 mg/L,and human leukocyte antigen (HLA)-B27 was positive.Magnetic resonance imaging (MRI) scanning of sacroiliac joint was consistent with spondyloarthropathies and avascular necrosis of left femoral head.After being treated with daily 99Te methylenediphonate intravenously,oral risedronate 5 mg and diclofenac sodium and sulfasalazine,his condition was improved.Results OI was an autosomal dominant hereditary disease defined by bone frailty due to abnormal synthesis of type Ⅰ collagen in bone matrix.It affects the entire skeleton,predisposing the patient to frequent non-traumatic fractures,causing pain,skeletal deformity,and disability.Conclusion OI patients have many musculoskeletal manifestations,such as arthralgia and deformities and should be considered in the differential diagnosis by rheumatologist.