| Item type |
学術雑誌論文 / Journal Article(1) |
| タイトル |
|
|
タイトル |
A Case of Idiopathic Scoliosis with Intraoperative Neurophysiological Monitoring Abnormalities Leading to the Diagnosis of Charcot-Marie-Tooth Disease 1B |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Charcot-Marie-Tooth disease (CMT) 1B |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
myelin protein zero (MPZ) mutation |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
neurophysiological monitoring (IONM) |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
scoliosis |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Numahata, Kyoko
Sugawara, Miki
Watanabe, Kazuyoshi
Takizawa, Yoshinori
Katayanagi, Junya
Ogawa, Tomohiro
Onoue, Hiroyuki
Akaiwa, Yasuhisa
Hashiguchi, Akihiro
Takashima, Hiroshi
Miyamoto, Tomoyuki
|
| 書誌情報 |
en : Dokkyo Medical Journal
巻 2,
号 3,
p. 245-250,
発行日 2023-09-25
|
| 記事種別 |
|
|
値 |
Case Report |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
The current case report describes the clinical and genetic characteristics of a 16-year-old female proband. She did not have any subjective neurological symptoms preoperatively and who was incidentally diagnosed due to abnormal intraoperative neurophysiological monitoring (IONM) using transcranial electrical stimulation motor evoked potentials (TES-MEP) and somatosensory evoked potentials (SEP) for idiopathic scoliosis, leading to the diagnosis of Charcot-Marie-Tooth disease (CMT) 1B. There was no similar disease in her family history. Nerve conduction velocity testing revealed decreased conduction velocity of the median nerve, and genetic testing indicated myelin protein zero (MPZ) mutation (c242A > G), leading to the diagnosis of demyelinating type CMT1B. The parents had no genetic mutation, and this was a case of de novo mutation. CMT1B is an important differential diagnosis because, similar to our case, there may not be any clinical symptoms. The disease was discovered during a careful evaluation of the patient's scoliosis and other complications. TES-MEP was more useful than SEP for IONM of scoliosis with CMT1B. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Dokkyo Medical Society |
| ISSN |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2436-522X |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12941861 |
| DOI |
|
|
関連タイプ |
isIdenticalTo |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.51040/dkmj.2023-005 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
DKMJ-2-3-9.pdf (410 KB)
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