| Autor: |
Kengo Maeda, Yutaka Yamamoto, Masatsugu Ohuchi, Takuto Sakashita, Masanori Shiohara, Tomo Namura, Masayuki Shintaku, Eiji Matsuura, Hiroshi Takashima |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
eNeurologicalSci, Vol 25, Iss , Pp 100358- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2405-6502 |
| DOI: |
10.1016/j.ensci.2021.100358 |
| Popis: |
We present pathology of the peripheral nerves of a patient with Adult-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation p.D651N. The patient was a 72-year-old woman. She had hoarseness and underwent continuous positive airway pressure therapy at night due to sleep apnea. The patient died abruptly. Remarkable demyelination with tomacula formation was found in the phrenic nerve, vagal nerve, recurrent laryngeal nerve, and oculomotor nerves. The cause of death could have been insufficient reactivity to the aspiration or sudden onset of bilateral vocal cord palsy. We must pay attention to respiratory function and cranial nerve palsies in hereditary demyelinating neuropathies. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
