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Case Reports
. 2022 Feb 17:36:101601.
doi: 10.1016/j.rmcr.2022.101601. eCollection 2022.

Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation

Tomoya Sano  1 , Jun Miyata  1 , Akira Matsukida  1 , Chie Watanabe  1 , Ryohei Suematsu  1 , Yoichi Tagami  1 , Yoshifumi Kimizuka  1 , Yuji Fujikura  1 , Akihiko Kawana  1
Affiliations
Case Reports

Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation

Tomoya Sano et al. Respir Med Case Rep. .

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.

Keywords: CMT, Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease; Diaphragmatic dysfunction; NPPV, non-invasive positive pressure ventilation; OSAS, obstructive sleep apnea syndrome; Pneumothorax; Restrictive pulmonary impairment; Sleep apnea syndrome; Thoracic cage deformity.

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Conflict of interest statement

The authors have no conflict of interest to report.

Figures

Fig. 1
Fig. 1
Inspiration-expiration study of chest radiography and computed tomography.
Fig. 2
Fig. 2
Axial images of computed tomography.
See this image and copyright information in PMC

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