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遗传性多发性外生骨疣中的颈髓病。

Cervical myelopathy in hereditary multiple exostoses.

机构信息

Service de rhumatologie, département de l'appareil locomoteur, CHU Vaudois, Lausanne, Switzerland.

出版信息

Joint Bone Spine. 2011 Jul;78(4):412-4. doi: 10.1016/j.jbspin.2011.02.021. Epub 2011 Apr 15.

Abstract

Spinal cord compression due to cervical exostoses is a rare but recognized complication of hereditary multiple exostosis (HME), an autosomal dominant disorder. This disease, also called multiple osteochondromatosis, is characterised by osteocartilaginous exostoses, typically involving the juxtaepiphyseal regions of long bones. Complications such as transformation to sarcoma (1 to 5%) or neurological compression (of the spinal cord, 1 to 9%) can arise during the course of the disease. We report the case of a 64-year-old man with progressive difficulties in walking over many years, ascribed to congenital rachitism. A diagnosis of HME was not made until late in the disease course. Investigations revealed cervical myelopathy due to vertebral exostosis as well as multiple exostoses in other sites. His gait was not improved after surgical decompression. A better knowledge of this disease could have prevented this neurological complication.

摘要

颈椎骨赘导致的脊髓压迫是遗传性多发外生骨疣(HME)的一种罕见但已被认识到的并发症,HME 是一种常染色体显性遗传病。这种疾病也被称为多发性软骨外生性骨疣,其特征是骨软骨外生骨疣,通常涉及长骨的骺板附近区域。在疾病过程中可能会出现诸如肉瘤转化(1 至 5%)或神经压迫(脊髓,1 至 9%)等并发症。我们报告了一例 64 岁男性,多年来逐渐出现行走困难,归因于先天性佝偻病。直到疾病晚期才做出 HME 的诊断。检查发现颈椎骨赘导致的脊髓病以及其他部位的多发性外生骨疣。手术后他的步态并未改善。如果对这种疾病有更好的了解,可能会预防这种神经并发症。

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