A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy

Ryo Sasaki; Yasuyuki Ohta; Yoshiaki Takahashi; Keiichiro Tsunoda; Koh Tadokoro; Kota Sato; Jingwei Shang; Mami Takemoto; Nozomi Hishikawa; Toru Yamashita; Koji Abe

doi:10.2169/internalmedicine.1048-18

A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy

Ryo Sasaki, Yasuyuki Ohta, Yoshiaki Takahashi, Keiichiro Tsunoda, Koh Tadokoro, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Koji Abe

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	437-440
Number of pages	4
Journal	Internal Medicine
Volume	58
Issue number	3
DOIs	https://doi.org/10.2169/internalmedicine.1048-18
Publication status	Published - 2019

Keywords

Klinefelter syndrome
Mosaic form
Peripheral neuropathy
Spastic paraplegia

ASJC Scopus subject areas

Internal Medicine

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10.2169/internalmedicine.1048-18

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title = "A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy",

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",

author = "Ryo Sasaki and Yasuyuki Ohta and Yoshiaki Takahashi and Keiichiro Tsunoda and Koh Tadokoro and Kota Sato and Jingwei Shang and Mami Takemoto and Nozomi Hishikawa and Toru Yamashita and Koji Abe",

note = "Funding Information: This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419619, (C) 15K0931607, 17H0419619 and 17K1082709 and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) from the Japan Agency for Medical Research and Development (AMED). Publisher Copyright: {\textcopyright} 2019 The Japanese Society of Internal Medicine.",

year = "2019",

doi = "10.2169/internalmedicine.1048-18",

language = "English",

volume = "58",

pages = "437--440",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

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T1 - A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy

AU - Sasaki, Ryo

AU - Ohta, Yasuyuki

AU - Takahashi, Yoshiaki

AU - Tsunoda, Keiichiro

AU - Tadokoro, Koh

AU - Sato, Kota

AU - Shang, Jingwei

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Yamashita, Toru

AU - Abe, Koji

N1 - Funding Information: This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419619, (C) 15K0931607, 17H0419619 and 17K1082709 and by Grants-in-Aid from the Research Committees (Kaji R, Toba K, and Tsuji S) from the Japan Agency for Medical Research and Development (AMED). Publisher Copyright: © 2019 The Japanese Society of Internal Medicine.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Klinefelter syndrome

KW - Mosaic form

KW - Peripheral neuropathy

KW - Spastic paraplegia

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EP - 440

JO - Internal Medicine

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A rare case of klinefelter syndrome accompanied by spastic paraplegia and peripheral neuropathy

Abstract

Keywords

ASJC Scopus subject areas

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