Osteogenesis Imperfecta and Pulmonary Tuberculosis: A Case Report

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by impaired type I collagen synthesis, leading to bone fragility and connective tissue abnormalities. This case reports a 5-month-old male infant presenting with respiratory distress, accompanied by congenital bone deformities. Physical and radiological examinations supported the diagnosis of OI, which was further confirmed by findings of generalized osteoporosis and multiple fractures. Additionally, the patient was diagnosed with pulmonary tuberculosis (TB), confirmed bacteriologically. Chest wall deformities and connective tissue abnormalities in OI increase the risk of respiratory complications, including TB infection. The patient’s management included anti-tuberculosis therapy, multidisciplinary monitoring, and plans for bisphosphonate treatment and functional rehabilitation. This report highlights the importance of early detection and a multidisciplinary approach in the management of OI, particularly when accompanied by pulmonary infectious comorbidities such as TB.