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唐氏综合征合并关节炎导致的寰枢椎前脱位:病例报告

Anterior atlantoaxial subluxation with Down syndrome and arthritis: case report.

作者信息

Prada Carlos Andres Ferreira, Sanchez Paez Maria Gabriela, Martinez Amado Andreina

机构信息

Neurological Surgery Service FOSCAL Clinic, Floridablanca, Colombia.

Nueva Granada Military University, Bogotá, Colombia.

出版信息

J Spine Surg. 2018 Dec;4(4):803-809. doi: 10.21037/jss.2018.12.07.

Abstract

Down syndrome (DS) occurs when an individual has a full or partial extra copy of chromosome 21 and is the most common of all malformation syndromes. Associating with numerous pathologies like anterior atlantoaxial subluxation (AAAS) which is an increase in the space between the anterior arch of the first cervical vertebra (C1) and the odontoid process of the second vertebra (C2), most of the time its asymptomatic, only 1-2% to all the 30% who may have the AAAS and DS develop clinical symptoms. In this occasion, we present the case of a patient with SD and Juvenile chronic arthritis (JCA) who has atlantoaxial subluxation of approximately 11mm, basilar impression and platybasia with severe medullary compression in 2 points, requiring surgical management by the Neurological Surgery Service in Bucaramanga-Colombia.

摘要

唐氏综合征(DS)是指个体的第21号染色体有完整或部分额外拷贝,它是所有畸形综合征中最常见的。它与许多病症相关,如寰枢椎前脱位(AAAS),即第一颈椎(C1)前弓与第二颈椎(C2)齿突之间的间隙增大,大多数情况下无症状,在所有可能患有AAAS和DS的患者中,只有1% - 2%会出现临床症状,而这一比例在所有患者中为30%。在此,我们报告一例患有唐氏综合征和青少年慢性关节炎(JCA)的患者,其寰枢椎脱位约11毫米,存在基底凹陷和扁平颅底,并有两点严重的延髓受压,需要哥伦比亚布卡拉曼加的神经外科进行手术治疗。

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Epigenomic engineering for Down syndrome.唐氏综合征的表观基因组工程。
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High cervical instability in adult patients with Down syndrome.唐氏综合征成年患者的高颈椎不稳
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Craniovertebral junction: biomechanical considerations.颅颈交界区:生物力学考虑。
Neurosurgery. 2010 Mar;66(3 Suppl):7-12. doi: 10.1227/01.NEU.0000366109.85796.42.
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Craniovertebral junction abnormalities in Down syndrome.唐氏综合征的颅颈交界区异常。
Neurosurgery. 2010 Mar;66(3 Suppl):32-8. doi: 10.1227/01.NEU.0000365803.22786.F0.
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Imaging the craniocervical junction.颅颈交界区成像
Childs Nerv Syst. 2008 Oct;24(10):1123-45. doi: 10.1007/s00381-008-0601-0. Epub 2008 May 7.
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Epidemiology of Down syndrome.唐氏综合征的流行病学
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