Tremor, sensory-motor polyneuropathy and cerebral gliosis in klinefelter's syndrome.

IF 2.1 4区 医学 Q3 CLINICAL NEUROLOGY
Donato Melchionda, Giovanni Martire, Carlo Avolio
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引用次数: 0

Abstract

Klinefelter's syndrome (KS) represents one of the most frequent sexual chromosome abnormalities, with an extra-X chromosome added to the normal karyotype (XXY). Clinically, it is characterized by tall body habitus, infertility, gynecomastia, small penis and testes. Neurological involvement is usually present and tremor is frequently described as postural and kinetic tremor that resembles an essential tremor. Polyneuropathy is another neurological problem described in KS. It is an axonal neuropathy with the involvement of sensory-motor fibers. It may represent a complication or alternatively a coexisting morbidity. Cerebral gliosis in magnetic resonance images (MRI) was also described, with lesions in deep white matter (white matter lesions -WMLs). Sexual chromosome alterations with an increased number of chromosomes (XXXY, XXYY, etc.) more often present these MRI abnormalities. We describe three cases of KS patients carrying these alterations: tremor, sensory-motor polyneuropathy and leukoencephalopathy. These three abnormalities should be considered in all patients with KS.

klinefelter综合征的震颤、感觉-运动多发性神经病和脑胶质瘤。
Klinefelter综合征(KS)是最常见的性染色体异常之一,在正常核型(XXY)上增加了一条额外的x染色体。临床表现为身材高大,不育症,男性乳房畸形,阴茎和睾丸小。通常存在神经系统受累,震颤常被描述为类似原发性震颤的体位性和动态性震颤。多发性神经病是KS中描述的另一个神经系统问题。它是一种累及感觉运动纤维的轴突神经病。它可能是一种并发症,也可能是一种共存的疾病。脑胶质瘤在磁共振图像(MRI)中也被描述为深部白质病变(白质病变-WMLs)。染色体数目增加的性染色体改变(XXXY、XXYY等)更常出现这些MRI异常。我们描述了三例KS患者携带这些改变:震颤,感觉-运动多神经病变和脑白质病。所有KS患者都应考虑这三种异常。
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来源期刊
Acta neurologica Belgica
Acta neurologica Belgica 医学-临床神经学
CiteScore
4.20
自引率
3.70%
发文量
300
审稿时长
6-12 weeks
期刊介绍: Peer-reviewed and published quarterly, Acta Neurologica Belgicapresents original articles in the clinical and basic neurosciences, and also reports the proceedings and the abstracts of the scientific meetings of the different partner societies. The contents include commentaries, editorials, review articles, case reports, neuro-images of interest, book reviews and letters to the editor. Acta Neurologica Belgica is the official journal of the following national societies: Belgian Neurological Society Belgian Society for Neuroscience Belgian Society of Clinical Neurophysiology Belgian Pediatric Neurology Society Belgian Study Group of Multiple Sclerosis Belgian Stroke Council Belgian Headache Society Belgian Study Group of Neuropathology
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