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一名年轻男性成人首次出现骨质疏松性爆裂骨折,系罕见的PLS3基因突变所致:病例报告

Osteoporotic Burst Fracture in a Young Male Adult as First Presentation of a Rare PLS3 Mutation: A Case Report.

作者信息

Nikolaou Stefania, Chatzikomninos Ioannis, Palavos Ioannis, Langourani-Kosteletou Paraskevi, Vitoula Kristallia

机构信息

2nd Orthopaedic Department, KAT Attica General Hospital, Athens, GRC.

Spine and Scoliosis Department, KAT Attica General Hospital, Athens, GRC.

出版信息

Cureus. 2023 Dec 29;15(12):e51264. doi: 10.7759/cureus.51264. eCollection 2023 Dec.

Abstract

Low-impact spinal fractures in young patients are rare and should raise suspicion of an underlying condition, as these injuries are typically the result of high-energy trauma. We describe a case of a young male patient who sustained a burst fracture of the first lumbar vertebra (L1) following low-energy trauma. The patient underwent percutaneous posterior spinal instrumentation, yet the poor bone quality detected intraoperatively prompted further diagnostic evaluation. Subsequently, low bone mineral density (BMD) was detected, and a rare plastine-3 () gene mutation was revealed in the genetic analysis. The patient was initiated on teriparatide therapy after the discovery of osteoporosis postoperatively. It is, therefore, imperative to investigate all young patients with low-energy spinal fractures preoperatively to discover the underlying pathology promptly.

摘要

低能量创伤导致的年轻患者脊柱骨折很少见,应怀疑存在潜在疾病,因为这些损伤通常是高能量创伤的结果。我们描述了一例年轻男性患者,其在低能量创伤后发生了第一腰椎(L1)爆裂骨折。患者接受了经皮后路脊柱内固定术,但术中检测到的骨质不佳促使进一步的诊断评估。随后,检测到低骨密度(BMD),并且在基因分析中发现了一种罕见的丝聚蛋白3()基因突变。术后发现骨质疏松症后,患者开始接受特立帕肽治疗。因此,术前对所有低能量脊柱骨折的年轻患者进行检查以迅速发现潜在病理情况至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ee3/10822049/69d04ddd4175/cureus-0015-00000051264-i01.jpg

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