Montero-Lopez Rodrigo, Laurer Elisabeth, Tischlinger Katharina, Nagy Dóra, Scala Mario, Kranewitter Wolfgang, Webersinke Gerald, Hörtenhuber Thomas, Högler Wolfgang
Department of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
Institute of Medical Genetics, Med Campus IV, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.
Bone Rep. 2022 Jun 3;16:101595. doi: 10.1016/j.bonr.2022.101595. eCollection 2022 Jun.
Vertebral compression fractures (VFs) are a common and severe finding in patients with osteoporosis. In children, VFs have the unique potential to reshape and regain their original configuration. Spontaneous vertebral body reshaping (, medication-unassisted) has been reported in secondary osteoporosis. Here we describe a previously unreported spontaneous vertebral reshaping in an adolescent with osteogenesis imperfecta (OI) with multiple vertebral fractures.
A 17-year-old female was diagnosed with OI type I at 5 years of age caused by a novel frameshift variant in (NM_000088.4: c.540delC; p.Met181TrpfsTer84). Due to parental reservations about medication, she had never received bisphosphonate or any other bone active therapy. A lateral spine X-ray demonstrated transparent bones and no VF. However, previous spine X-rays taken at age of 6 years at an external institution showed VFs in T5-7 (Genant semiquantitative method grade I-II). The two lateral spine x-rays, taken 11 years apart, demonstrate that substantial spontaneous vertebral reshaping occurred without bone active therapy during puberty.
Vertebral reshaping is explained by the stabilization of bone mineral density (BMD) and the remaining growth capacity the children. We hypothesize that spontaneous reshaping may occur in milder forms of OI, and that puberty may be a key mediator of the phenomenon. In all children with OI and vertebral fractures, we nevertheless recommend bisphosphonate therapy since it improves bone mass, BMD, vertebral shape, physical activity and reduces fracture rates.
椎体压缩骨折（VFs）是骨质疏松症患者常见且严重的表现。在儿童中，椎体压缩骨折具有重塑并恢复其原始形态的独特潜力。继发性骨质疏松症中曾有过自发椎体重塑（即无药物辅助）的报道。在此，我们描述了一名患有成骨不全症（OI）并伴有多处椎体骨折的青少年中一种此前未报道过的自发椎体重塑情况。
一名17岁女性在5岁时被诊断为I型成骨不全症，病因是 （NM_000088.4: c.540delC; p.Met181TrpfsTer84）出现了一种新的移码变异。由于父母对药物治疗有所保留，她从未接受过双膦酸盐或任何其他骨活性治疗。脊柱侧位X线片显示骨质透亮，无椎体压缩骨折。然而，之前在外部机构6岁时拍摄的脊柱X线片显示T5 - 7椎体有压缩骨折（Genant半定量法I - II级）。相隔11年拍摄的两张脊柱侧位X线片表明，青春期期间在未进行骨活性治疗的情况下发生了显著的自发椎体重塑。
椎体重塑可通过骨矿物质密度（BMD）的稳定以及儿童剩余的生长能力来解释。我们推测，自发重塑可能发生在症状较轻的成骨不全症中，且青春期可能是这一现象的关键介导因素。不过，对于所有患有成骨不全症和椎体骨折的儿童，我们仍建议进行双膦酸盐治疗，因为它可改善骨量、骨矿物质密度、椎体形态、身体活动能力并降低骨折发生率。
