Holinger P C, Vuckovich D M, Holinger L D, Holinger P H
Ann Otol Rhinol Laryngol. 1979 Mar-Apr;88(2 Pt 1):205-9. doi: 10.1177/000348947908800210.
This report descirbes the unusual association of bilateral abductor vocal cord paralysis (BAbVCP) and Charcot-Marie-Tooth disease in a boy and his natural mother who have been followed for eight years. The boy initially presented with life-threatening respiratory distress at age ten years; BAbVCP was documented by direct laryngoscopy. Mirror laryngoscopy confirmed BAbVCP in the mother. Neurological diagnosis was made by history, physical examination, electromyography, and nerve conduction velocity studies. The BAbVCP may represent an additional genetic marker within the spectrum of heredodegenerative disorders. Of clinical importance is examination of voice and respiratory symptomatology of patients with heredodegenerative diseases and neurological work-up of patients with familial vocal cord paralysis. Further genetic and clinical studies of X cranial nerve involvement in heredodegenerative disorders are warranted.
本报告描述了一名男孩及其亲生母亲双侧声带外展麻痹（BAbVCP）与夏科-马里-图思病的罕见关联，他们已被随访八年。该男孩最初在10岁时出现危及生命的呼吸窘迫；直接喉镜检查记录了双侧声带外展麻痹。间接喉镜检查证实母亲也患有双侧声带外展麻痹。通过病史、体格检查、肌电图和神经传导速度研究做出了神经学诊断。双侧声带外展麻痹可能是遗传性退行性疾病范围内的另一种遗传标志物。对遗传性退行性疾病患者的声音和呼吸症状进行检查以及对家族性声带麻痹患者进行神经学检查具有临床重要性。有必要对遗传性退行性疾病中X脑神经受累进行进一步的遗传学和临床研究。
