Clinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting — A case report and review of literature
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Pediatric bone fragility presents a significant diagnostic challenge, often leading to misdiagnosis between conditions like rickets and Osteogenesis Imperfecta (OI). Accurate differentiation is crucial for effective management due to the varying underlying pathophysiologies. Case presentation: This report details the diagnostic journey of a 10-year-old male who initially presented with recurrent femoral shaft fractures and was misdiagnosed with rickets. Despite conventional treatment, persistent symptoms and the emergence of classic OI features, such as grey sclera and dentinogenesis imperfecta, prompted re-evaluation and ultimately led to a diagnosis of Osteogenesis Imperfecta Type I. Discussion: This case highlights the complexities of diagnosing rare genetic bone disorders that mimic more common conditions. Challenges include limited access to advanced diagnostics like genetic testing and the need for a high index of suspicion in atypical presentations. The importance of a multidisciplinary approach to OI management and early diagnosis for patient and family support is emphasized. The case also highlights the necessity of thoroughly investigating the underlying causes of pathological fractures. Conclusion: This case report illustrates the diagnostic pitfalls in pediatric bone fragility and reinforces the need for comprehensive clinical assessment and appropriate investigations to avoid misdiagnosis of conditions like OI. Early and accurate diagnosis is crucial for effective management and improved patient outcomes.
Authors: Dinesh Kumar Pandit, Samagya Paudel, Hem Shankar Yadav, Kshitiz Shrestha, Roshika Ghatani, Pia Rai
Institution: Janaki Medical College
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,090
OpenAlex ID: W4415534048