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

Tomoya Sano; Jun Miyata; Akira Matsukida; Chie Watanabe; Ryohei Suematsu; Yoichi Tagami; Yoshifumi Kimizuka; Yuji Fujikura; Akihiko Kawana

doi:10.1016/j.rmcr.2022.101601

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	101601
Journal	Respiratory Medicine Case Reports
Volume	36
DOIs	https://doi.org/10.1016/j.rmcr.2022.101601
Publication status	Published - 2022 Jan
Externally published	Yes

Keywords

Charcot-Marie-Tooth disease
Diaphragmatic dysfunction
Pneumothorax
Restrictive pulmonary impairment
Sleep apnea syndrome
Thoracic cage deformity

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine

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10.1016/j.rmcr.2022.101601

Cite this

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title = "Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation",

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 = "Charcot-Marie-Tooth disease, Diaphragmatic dysfunction, Pneumothorax, Restrictive pulmonary impairment, Sleep apnea syndrome, Thoracic cage deformity",

author = "Tomoya Sano and Jun Miyata and Akira Matsukida and Chie Watanabe and Ryohei Suematsu and Yoichi Tagami and Yoshifumi Kimizuka and Yuji Fujikura and Akihiko Kawana",

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doi = "10.1016/j.rmcr.2022.101601",

language = "English",

volume = "36",

journal = "Respiratory Medicine Case Reports",

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AU - Sano, Tomoya

AU - Miyata, Jun

AU - Matsukida, Akira

AU - Watanabe, Chie

AU - Suematsu, Ryohei

AU - Tagami, Yoichi

AU - Kimizuka, Yoshifumi

AU - Fujikura, Yuji

AU - Kawana, Akihiko

PY - 2022/1

Y1 - 2022/1

N2 - 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.

AB - 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.

KW - Charcot-Marie-Tooth disease

KW - Diaphragmatic dysfunction

KW - Pneumothorax

KW - Restrictive pulmonary impairment

KW - Sleep apnea syndrome

KW - Thoracic cage deformity

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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