Department of Endocrine, Jiangxi Provincial People's Hospital Affiliated to Nanchang University, Nanchang, China.
Front Endocrinol (Lausanne). 2021 Apr 15;12:622674. doi: 10.3389/fendo.2021.622674. eCollection 2021.
Osteogenesis imperfecta (OI) type V is a rare form of OI which is often characterized by hyperplastic callus. Misdiagnosis is a possibility due to its rarity and because patients involved are mostly in adolescence, a predisposing age for osteosarcoma. Here, we report this case and aim to improve understanding of patients with OI type V and avoid misdiagnosis.
A male, 14-year-old patient was admitted to Jiangxi Provincial People's Hospital affiliated to Nanchang University in August 2020 due to repeated fractures for more than 11 years and swelling in his right leg for more than 4 years. The patient was diagnosed with OI in 2014 due to repeated fracture and was treated with bisphosphonates. The swelling was accompanied by huge callus formation. Prior to admission to our hospital in 2016 osteosarcoma was suspected by imaging and pathology, and amputation was recommended. OI-V was confirmed after more than four years of follow-up and genetic diagnosis, and the affected limb was preserved.
The history of OI and lack of rapid progression suggested OI-V with a hyperplastic callus. Combined with genetic testing, the diagnosis was OI-V. Although the patient was at a predisposing age for osteosarcoma, diagnosis and treatment should be based on the medical history of the patient, imaging,and genetic testing, and sometimes even time-consuming retrospective observation.
成骨不全症（OI）V 型是一种罕见的 OI 形式，其特征通常为骨痂过度增生。由于其罕见性，以及涉及的患者大多处于青少年时期，即骨肉瘤的易患年龄，因此存在误诊的可能性。在此，我们报告该病例，旨在提高对 OI V 型患者的认识并避免误诊。
一名 14 岁男性患者，于 2020 年 8 月因反复骨折超过 11 年和右腿肿胀超过 4 年，入住南昌大学附属江西省人民医院。患者于 2014 年因反复骨折被诊断为 OI，并接受了双膦酸盐治疗。肿胀伴有巨大骨痂形成。2016 年在我院就诊时，影像学和病理学提示骨肉瘤可能，建议截肢。经过四年多的随访和基因诊断，确诊为 OI-V 型，保留了受累肢体。
OI 病史和缺乏快速进展提示为伴有骨痂过度增生的 OI-V 型。结合基因检测，诊断为 OI-V 型。尽管患者处于骨肉瘤的易患年龄，但诊断和治疗应基于患者的病史、影像学和基因检测，有时甚至需要耗时的回顾性观察。
