Mirlohi Seyed Hossein, Tajfirooz Sanaz, Rouhi Mitra
Pediatric Respiratory and Sleep Medicine Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Children's Medical Center, Pediatric Center of Excellence, Tehran, Iran.
Respir Med Case Rep. 2025 Jan 8;53:102154. doi: 10.1016/j.rmcr.2024.102154. eCollection 2025.
Charcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. The complexity of the condition often leads to various possible diagnoses along with neuropathic diseases, sometimes resulting in significant delays in diagnosis and treatment. Thorough clinical examinations, suspicion based on symptoms, electromyography, nerve conduction tests, and specific genomic testing can expedite diagnosis. Here, we will introduce a case of Charcot-Marie-Tooth disorder, initially presenting with stridor and hoarseness due to vocal cord paralysis, later progressing to atrophy and deformity of the limbs. Diagnosis was confirmed through whole genome sequencing, revealing mutations in genes associated with the disorder.
夏科-马里-图思病是一种涉及多个基因的遗传性疾病，会导致进行性神经损伤，影响感觉和运动。这种病症的复杂性常常导致与神经病变疾病一起出现各种可能的诊断结果，有时会导致诊断和治疗的显著延迟。全面的临床检查、基于症状的怀疑、肌电图、神经传导测试以及特定的基因组检测可以加快诊断。在此，我们将介绍一例夏科-马里-图思病病例，该病例最初因声带麻痹出现喘鸣和声音嘶哑，后来发展为肢体萎缩和畸形。通过全基因组测序确诊，揭示了与该病症相关的基因突变。
