骨形成不全症または非偶発的外傷か？小児骨折における診断のジレンマ

In pediatric populations, unexplained fractures, particularly in non-ambulatory children, raise immediate concern for nonaccidental trauma (NAT). Osteogenesis imperfecta (OI) is a rare genetic disorder marked by bone fragility, frequent fractures, and features like blue sclera. Distinguishing between these two entities remains a significant diagnostic challenge. Misdiagnosis of OI as NAT carries substantial medical, legal, and psychosocial consequences for families and underscores the need for accurate, timely diagnosis supported by multidisciplinary evaluation. We present a case of a six-month-old non-ambulatory male who presented with a left tibial spiral fracture and was initially considered to have been subject to NAT and was eventually diagnosed with OI. This case highlights several quality improvement opportunities, including missed documentation of key physical exam findings, misinformation about the nature of genetic testing, and delayed referral for genetic evaluation. This case underscores the importance of structured clinical pathways that prompt consideration of rare medical mimics like OI when evaluating suspected NAT. Radiographic differentiation alone is often insufficient and clinical clues such as scleral hue, fracture history, and family history must be integrated into the diagnostic process.

(1)Osteogenesis imperfecta (OI) and non-accidental trauma (NAT) can present with overlapping clinical and radiographic features.(2)Classic metaphyseal lesions, often associated with NAT, may also be seen in OI.(3)A thorough history (family history), a physical exam (blue sclera), and genetic testing are essential for distinguishing OI from NAT to avoid misdiagnosis and inappropriate child protection interventions.(4)Delays in genetic evaluation and misinformation about testing can hinder timely diagnosis and management of OI.