The clinical recognition, diagnosis and treatment of osteogenesis imperfecta: a case report and literature review.

Abstract

Osteogenesis imperfecta (OI) is a rare congenital heterogeneous connective tissue disorder characterized by increased bone fragility, recurrent fractures, skeletal deformities, and short stature. Timely diagnosis and intervention can improve patients' quality of life and enhance their long-term prognosis. This study reports a case of a 26-year-old patient with OI who also had autoimmune diseases. Due to long-term treatment with glucocorticoids for autoimmune diseases, the OI was chronically missed. The typical clinical symptoms, skeletal imaging features, and genetic test results of this patient ultimately confirmed the diagnosis of osteogenesis imperfecta. At the same time, a multidisciplinary comprehensive individualized treatment plan was formulated and implemented for the patient, effectively alleviating clinical symptoms and improving the prognosis of the disease. This study reports a case of an adult patient with OI who also has an autoimmune disease. It emphasizes the need for clinicians to pay attention to the early identification and genetic diagnosis of OI in the context of co-morbidity. Multidisciplinary comprehensive treatment can significantly improve the patient's symptoms, providing a reference for the clinical diagnosis and treatment of rare hereditary bone diseases.