Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource-Limited Setting: A Case Report

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility, skeletal deformities, and multisystem involvement, with respiratory complications representing a major cause of morbidity and mortality. Intrinsic pulmonary abnormalities, restrictive physiology from scoliosis, and impaired secretion clearance increase susceptibility to respiratory failure. Reports describing the management of OI complicated by severe pneumonia in resource-limited settings remain scarce.

We report a 13-year-old male with genetically unconfirmed but clinically evident OI who presented with high-grade fever, productive cough, cyanosis, and severe respiratory distress. Chest X-ray demonstrated right-sided pneumonia and mild thoracic scoliosis. Airway evaluation showed no cervical spine instability or dentinogenesis imperfecta, and intubation was achieved without difficulty using a cuffed 6.5-mm tube. Mechanical ventilation provided stabilization, with arterial blood gases normalizing. A comprehensive infectious workup was negative. The child improved with intravenous antibiotics, supportive care, and extubation on Day 3.

Respiratory compromise in OI arises from both skeletal and intrinsic airway abnormalities, including altered collagen architecture, bronchial wall thickening, and reduced chest-wall compliance. Mild scoliosis and impaired airway clearance may have contributed to respiratory decompensation in this case. While BiPAP/CPAP may benefit selected OI patients, their use must be individualized; in this patient, noninvasive ventilation was not indicated due to discomfort risk and adequate response to invasive ventilation. Early screening for sleep-disordered breathing and pulmonary dysfunction is recommended in OI.

This case highlights the complexity of managing pneumonia in OI within resource-limited contexts and underscores the need for multidisciplinary, individualized respiratory care.