{"title":"Tremor, sensory-motor polyneuropathy and cerebral gliosis in klinefelter's syndrome.","authors":"Donato Melchionda, Giovanni Martire, Carlo Avolio","doi":"10.1007/s13760-025-02869-x","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neurologica Belgica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s13760-025-02869-x","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.
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