Caffarelli Carla, Hayek Jussef, Nuti Ranuccio, Gonnelli Stefano
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Child Neuropsychiatry Unit, University Hospital, "Azienda Ospedaliera Universitaria Senese", Siena, Italy.
Clin Cases Miner Bone Metab. 2015 Sep-Dec;12(3):253-6. doi: 10.11138/ccmbm/2015.12.3.253. Epub 2015 Dec 29.
Rett syndrome is a common X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. Patients with Rett syndrome have a low bone mineral density and increased risk of fracture. The present case report describes a successful novel therapeutic intervention with teriparatide with one patient with Rett syndrome, after suffering from recurrent low-trauma fractures at intervals of several years. Because of the severity of bone involvement, the decision was made to treat with teriparatide and subsequently with intravenous bisphosphonate. Since the initiation of the treatment, there was an evident improvement at densitometric and QUS parameters. Furthermore, until the present, no new fractures have appeared. This is the first report in which teriparatide was administered to a subjects with Rett syndrome. In conclusion, this report has shown the effectiveness of teriparatide in the management of osteoporotic fractures in one subjects with Rett syndrome. This report provides evidence that increased knowledge of bone pathology and fracture prevention in Rett subjects is important and should be addressed in future studies.
雷特综合征是一种常见的X连锁神经发育障碍，由MECP2基因突变引起。雷特综合征患者骨矿物质密度低，骨折风险增加。本病例报告描述了对一名患有雷特综合征的患者成功进行的新型治疗干预，该患者在数年间反复发生低创伤性骨折。由于骨骼受累的严重程度，决定使用特立帕肽治疗，随后使用静脉双膦酸盐治疗。自开始治疗以来，骨密度和定量超声参数有明显改善。此外，到目前为止，没有出现新的骨折。这是首次对患有雷特综合征的受试者使用特立帕肽的报告。总之，本报告显示了特立帕肽在一名患有雷特综合征的受试者骨质疏松性骨折管理中的有效性。本报告提供了证据，表明增加对雷特综合征患者骨病理学和骨折预防的了解很重要，应在未来研究中加以解决。
