Department of Neurology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, 155 Hanzhong Road, Nanjing, 210002, Jiangsu, China.
Department of Radiology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, 210002, Jiangsu, China.
BMC Neurol. 2019 Nov 8;19(1):276. doi: 10.1186/s12883-019-1477-1.
Internal carotid artery dissection has been well recognized as a major cause of ischaemic stroke in young and middle-aged adults. However, internal carotid artery dissection induced hypoglossal nerve palsy has been seldom reported and may be difficult to diagnose in time for treatment; even angiography sometimes misses potential dissection, especially when obvious lumen geometry changing is absent.
We report a 42-year-old man who presented with isolated hypoglossal nerve palsy. High-resolution MRI showed the aetiological dissected internal carotid artery. In addition, a potential genetic structural defect of the arterial wall was suggested due to an exon region mutation in the polycystic-kidney-disease type 1 gene.
Hypoglossal nerve palsy is a rare manifestations of carotid dissection. High-resolution MRI may provide useful information about the vascular wall to assist in the diagnosis of dissection. High-throughput sequencing might be useful to identify potential cerebrovascular-related gene mutation, especially in young individuals with an undetermined aetiology.
颈内动脉夹层已被公认为中青年缺血性脑卒中的主要病因。然而，由颈内动脉夹层引起的舌下神经麻痹较为少见，且可能难以及时诊断和治疗；即使是血管造影术有时也会错过潜在的夹层，尤其是在没有明显管腔几何形状改变的情况下。
我们报告了 1 例 42 岁男性，表现为孤立性舌下神经麻痹。高分辨率 MRI 显示了病因性颈内动脉夹层。此外，由于多囊肾病 1 型基因外显子区域突变，提示动脉壁存在潜在的遗传结构缺陷。
舌下神经麻痹是颈动脉夹层的一种罕见表现。高分辨率 MRI 可能提供有关血管壁的有用信息，有助于诊断夹层。高通量测序可能有助于识别潜在的与脑血管相关的基因突变，特别是在病因不明的年轻患者中。
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