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

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...

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Detalles Bibliográficos
Autores principales: Sano, Tomoya, Miyata, Jun, Matsukida, Akira, Watanabe, Chie, Suematsu, Ryohei, Tagami, Yoichi, Kimizuka, Yoshifumi, Fujikura, Yuji, Kawana, Akihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866735/
https://www.ncbi.nlm.nih.gov/pubmed/35242516
http://dx.doi.org/10.1016/j.rmcr.2022.101601
Descripción
Sumario: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.

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