ID | 61513 |
FullText URL | |
Author |
Sasaki, Ryo
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Ohta, Yasuyuki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
researchmap
Takahashi, Yoshiaki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Tsunoda, Keiichiro
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Tadokoro, Koh
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Sato, Kota
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Shang, Jingwei
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Takemoto, Mami
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
Hishikawa, Nozomi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
Yamashita, Toru
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
researchmap
Abe, Koji
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
publons
researchmap
|
Abstract | Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders. The present case suggests that Klinefelter syndrome can present with both upper and lower motor neuron degeneration.
|
Keywords | Klinefelter syndrome
mosaic form
peripheral neuropathy
spastic paraplegia
|
Published Date | 2019-02-01
|
Publication Title |
Internal Medicine
|
Volume | volume58
|
Issue | issue3
|
Publisher | Japanese Society of Internal Medicine
|
Start Page | 437
|
End Page | 440
|
ISSN | 0918-2918
|
NCID | AA10827774
|
Content Type |
Journal Article
|
language |
English
|
OAI-PMH Set |
岡山大学
|
Copyright Holders | © 2019 by The Japanese Society of Internal Medicine
|
File Version | publisher
|
PubMed ID | |
DOI | |
Web of Science KeyUT | |
Related Url | isVersionOf https://doi.org/10.2169/internalmedicine.1048-18
|
License | https://creativecommons.org/licenses/by-nc-nd/4.0/
|
Funder Name |
Japan Agency for Medical Research and Development
|
助成番号 | 17H0419619
15K0931607
17K1082709
|