Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation. (2022)

• Record Type: Journal Article
• Authors: Sano, Tomoya; Miyata, Jun; Matsukida, Akira; Watanabe, Chie; Suematsu, Ryohei; Tagami, Yoichi; Kimizuka, Yoshifumi; Fujikura, Yuji; Kawana, Akihiko
• Is Part Of: Respiratory medicine case reports. Volume 36(2022)
• Publication Date: 2022
• Subjects: Charcot-Marie-Tooth disease -- Diaphragmatic dysfunction -- Thoracic cage deformity -- Pneumothorax -- Restrictive pulmonary impairment -- Sleep apnea syndrome; CMT Charcot-Marie-Tooth disease -- NPPV non-invasive positive pressure ventilation -- OSAS obstructive sleep apnea syndrome; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2022.101601
• Languages: English
• ISSNs: 2213-0071

Abstract

Abstract: 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. Highlights: Respiratory complications in Charcot-Marie-Tooth disease (CMT) are rare. This is the first report of multiple respiratory complications in a CMT patient. Non-invasive ventilation was safely introduced and effective in this case.