Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh
{"title":"无创通气和激光辅助单侧后脊髓切开术是治疗夏科-玛丽-牙病 4B 声带麻痹的新型多学科方法:病例报告。","authors":"Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh","doi":"10.1186/s13256-024-04742-6","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting. There is still no effective therapy for Charcot-Marie-Tooth disease.</p><p><strong>Case presentation: </strong>The patient is a 6-year-old Iranian girl, of Fars ethnicity, who was admitted with a chief complaint of hoarseness and an impression of Charcot-Marie-Tooth disease type 4B. She was initially treated with noninvasive ventilation and, after a year, electively underwent cordotomy as a novel therapeutic approach.</p><p><strong>Conclusions: </strong>Charcot-Marie-Tooth disease type 4B is a less common but important cause of stridor. Noninvasive ventilation treatment and unilateral posterior cordotomy can be utilized for hereditary neuropathies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11366128/pdf/","citationCount":"0","resultStr":"{\"title\":\"Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report.\",\"authors\":\"Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh\",\"doi\":\"10.1186/s13256-024-04742-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting. There is still no effective therapy for Charcot-Marie-Tooth disease.</p><p><strong>Case presentation: </strong>The patient is a 6-year-old Iranian girl, of Fars ethnicity, who was admitted with a chief complaint of hoarseness and an impression of Charcot-Marie-Tooth disease type 4B. She was initially treated with noninvasive ventilation and, after a year, electively underwent cordotomy as a novel therapeutic approach.</p><p><strong>Conclusions: </strong>Charcot-Marie-Tooth disease type 4B is a less common but important cause of stridor. Noninvasive ventilation treatment and unilateral posterior cordotomy can be utilized for hereditary neuropathies.</p>\",\"PeriodicalId\":16236,\"journal\":{\"name\":\"Journal of Medical Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11366128/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s13256-024-04742-6\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13256-024-04742-6","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report.
Background: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting. There is still no effective therapy for Charcot-Marie-Tooth disease.
Case presentation: The patient is a 6-year-old Iranian girl, of Fars ethnicity, who was admitted with a chief complaint of hoarseness and an impression of Charcot-Marie-Tooth disease type 4B. She was initially treated with noninvasive ventilation and, after a year, electively underwent cordotomy as a novel therapeutic approach.
Conclusions: Charcot-Marie-Tooth disease type 4B is a less common but important cause of stridor. Noninvasive ventilation treatment and unilateral posterior cordotomy can be utilized for hereditary neuropathies.
期刊介绍:
JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect