Jokubaitis Mantas, Lengvenis Givi, Burnytė Birutė, Audronytė Eglė, Ryliškienė Kristina
Center of Neurology, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Department of Radiology, Nuclear Medicine and Medical Physics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Front Neurol. 2024 Feb 9;15:1359994. doi: 10.3389/fneur.2024.1359994. eCollection 2024.
This case study describes a 57-year-old woman with a six-year history of recurrent episodes characterized by visual, sensory, speech disturbances, hemiparesis and severe one-sided headaches accompanied by fever and altered consciousness. Initially misdiagnosed as a stroke, the atypical disease course and MRI findings led to additional genetic testing which revealed a sodium voltage-gated channel gene mutation (T1174S), confirming a diagnosis of sporadic hemiplegic migraine. The migraine prophylaxis showed some improvement in episode frequency and severity. Despite an initial improvement, the patient underwent severe cognitive decline and developed new permanent neurological symptoms during the subsequent 7 years of follow-up.
本病例研究描述了一名57岁女性，有六年反复发作史，其发作特征为视觉、感觉、言语障碍、偏瘫和严重的单侧头痛，并伴有发热和意识改变。最初被误诊为中风，非典型的病程和磁共振成像（MRI）结果导致进行了额外的基因检测，结果显示存在钠电压门控通道基因突变（T1174S），从而确诊为散发性偏瘫性偏头痛。偏头痛预防性治疗在发作频率和严重程度方面有一定改善。尽管最初有改善，但在随后7年的随访中，患者出现了严重的认知衰退，并出现了新的永久性神经症状。
