التفاصيل البيبلوغرافية
| العنوان: |
Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation |
| المؤلفون: |
Tomoya Sano, Jun Miyata, Akira Matsukida, Chie Watanabe, Ryohei Suematsu, Yoichi Tagami, Yoshifumi Kimizuka, Yuji Fujikura, Akihiko Kawana |
| المصدر: |
Respiratory Medicine Case Reports, Vol 36, Iss , Pp 101601- (2022) |
| بيانات النشر: |
Elsevier, 2022. |
| سنة النشر: |
2022 |
| المجموعة: |
LCC:Diseases of the respiratory system |
| مصطلحات موضوعية: |
Charcot-Marie-Tooth disease, Diaphragmatic dysfunction, Thoracic cage deformity, Pneumothorax, Restrictive pulmonary impairment, Sleep apnea syndrome, Diseases of the respiratory system, RC705-779 |
| الوصف: |
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy characterized by progressive atrophy of distal muscles. Respiratory complications are rare. We present a case of a 49-year-old male with childhood-onset CMT bearing a genetic mutation of MFN2. He had difficulty breathing when he was 46. Imaging examination revealed complications of phrenic nerve paralysis and pneumothorax with a funnel chest. Respiratory function test demonstrated severe restrictive ventilatory impairment. Polysomnography supported the diagnosis of mild sleep apnea syndrome. Noninvasive positive pressure ventilation successfully reduced respiratory symptoms. To our knowledge, this is the first demonstration of multiple respiratory complications in a CMT patient. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2213-0071 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S2213007122000235; https://doaj.org/toc/2213-0071 |
| DOI: |
10.1016/j.rmcr.2022.101601 |
| URL الوصول: |
https://doaj.org/article/1d7abb88a1884766944b30e6c7250a06 |
| رقم الانضمام: |
edsdoj.1d7abb88a1884766944b30e6c7250a06 |
| قاعدة البيانات: |
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