Department of Pediatric Pulmonology, Mofid Pediatrics Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Student Research Committee, Faculty of Medicine, Shahed University, Tehran, Iran.
J Med Case Rep. 2024 Sep 1;18(1):401. doi: 10.1186/s13256-024-04742-6.
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.
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.
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.
Charcot-Marie-Tooth 病（CMT）是最常见的遗传性周围神经病之一。这种疾病通常表现为以四肢远端为主的感觉丧失、肌无力和肌肉萎缩。目前仍然没有针对 Charcot-Marie-Tooth 病的有效治疗方法。
患者为一名 6 岁伊朗女孩，法尔斯族裔，以声音嘶哑和 Charcot-Marie-Tooth 病 4B 型为主诉入院。她最初接受无创通气治疗，一年后作为一种新的治疗方法选择行脊髓切开术。
Charcot-Marie-Tooth 病 4B 型是一种较为少见但重要的喘鸣原因。遗传性周围神经病可采用无创通气治疗和单侧后索切开术。
