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<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>

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

  • 期刊论文

  • 发表日期：

    2025年8月9日

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  • Donato Melchionda,
  • Giovanni Martire,
  • Carlo Avolio

摘要

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.