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一例伴有ATP1A2基因突变的偏瘫型偏头痛病例报告

A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.

作者信息

Guan Dong-Mei, Shan Yuan-Zhuang, Zhao Hao-Tian, Meng Ying, Yan Zhong-Rui, Zhang Hai-Lin

机构信息

Shandong University of Tradition Chinese Medicine, Jinan, Shandong, People's Republic of China.

Department of Neurology, Jining No.1 People's Hospital, Jining, Shandong, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2024 Sep 20;17:437-442. doi: 10.2147/PGPM.S473335. eCollection 2024.

Abstract

BACKGROUND

Hemiplegic migraine, a less common variant of migraine, is the focus of this paper. Within the scope of this study, we present a case of hemiplegic migraine that bears the potential for misdiagnosis, particularly as encephalitis.

BRIEF INTRODUCTION TO THE DISEASE

The patient developed a right-sided headache a day prior to admission, accompanied by fever, nausea, vomiting, and left-sided limb weakness. On the fourth day, the patient experienced a grand mal epilepsy, marked by unconsciousness, leftward deviation of both eyes, limb convulsions, and foaming at the mouth. Cerebrospinal fluid analysis revealed no apparent abnormalities, Electroencephalography showed abnormal slow waves, imaging studies indicated swelling and meningeal thickening in the right cortex, and genetic testing identified a heterozygous mutation in the ATPIA2 gene. The diagnosis was hemiplegic migraine, and the patient received symptomatic supportive treatment, leading to improvement and subsequent discharge. Flunarizine and sodium valproate were prescribed post-discharge, and the patient achieved complete recovery after a one-month follow-up.

CONCLUSION

Apart from experiencing headaches, patients with hemiplegic migraine may exhibit additional symptoms like fever, epilepsy, and hemiplegia. These manifestations warrant clinical attention, and if deemed necessary, genetic testing should be conducted, and this is an autosomal dominant pattern.

摘要

背景

偏瘫性偏头痛是偏头痛中较罕见的一种变体,是本文的研究重点。在本研究范围内,我们报告一例有被误诊为脑炎风险的偏瘫性偏头痛病例。

疾病简介

患者入院前一天出现右侧头痛,伴有发热、恶心、呕吐及左侧肢体无力。第四天,患者发生大发作癫痫,表现为意识丧失、双眼向左偏斜、肢体抽搐及口吐白沫。脑脊液分析无明显异常,脑电图显示异常慢波,影像学检查提示右侧皮质肿胀及脑膜增厚,基因检测发现ATP1A2基因杂合突变。诊断为偏瘫性偏头痛,患者接受对症支持治疗后好转并出院。出院后给予氟桂利嗪和丙戊酸钠,随访1个月后患者完全康复。

结论

偏瘫性偏头痛患者除头痛外,还可能出现发热、癫痫及偏瘫等其他症状。这些表现值得临床关注,必要时应进行基因检测,本病为常染色体显性遗传模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aee6/11421430/43146349738f/PGPM-17-437-g0001.jpg

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