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家族性偏瘫性偏头痛 2 型严重发作期间的连续磁共振成像发现:病例报告。

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report.

机构信息

Geisinger Commonwealth School of Medicine, PA, Scranton, USA.

Department of Neurology, Neuroscience Institute, Geisinger Health System, 100 N Academy Ave, PA, Danville, USA.

出版信息

BMC Neurol. 2021 Apr 21;21(1):173. doi: 10.1186/s12883-021-02201-z.

DOI:10.1186/s12883-021-02201-z
PMID:33882852
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8059280/
Abstract

BACKGROUND

Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology. Mutations in the ATP1A2 gene are responsible for Familial Hemiplegic type 2 (FHM2) or the sporadic hemiplegic migraine (SHM) counterpart if there is no family history of the disorder. Manifestations include migraine with aura and hemiparesis along with a variety of other symptoms likely dependent upon the specific mutation(s) present.

CASE PRESENTATION

We report the case of an adult man who presented with headache, aphasia, and right-sided weakness. Workup for stroke and various infectious agents was unremarkable during the patient's extended hospital stay. We emphasize the changes in the Magnetic Resonance Imaging (MRI) over time and the delay from onset of symptoms to MRI changes in Isotropic Diffusion Map (commonly referred to as Diffusion Weighted Imaging (DWI)) as well as Apparent Diffusion Coefficient (ADC).

CONCLUSIONS

We provide a brief review of imaging findings correlated with signs/symptoms and specific mutations in the ATP1A2 gene reported in the literature. Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack.

摘要

背景

偏瘫性偏头痛是一种表现多样的异质性疾病。根据家族史的存在,偏瘫性偏头痛可分为散发性或家族性,但其两种亚型均具有潜在的遗传病因。ATP1A2 基因突变负责家族性偏瘫型偏头痛 2 型(FHM2)或无家族史的散发性偏瘫性偏头痛(SHM)。其表现包括偏头痛伴先兆和偏瘫,以及各种其他症状,这些症状可能取决于存在的特定突变。

病例介绍

我们报告了一例成年男性患者,其表现为头痛、失语和右侧无力。在患者延长的住院期间,对中风和各种感染性病原体的检查无明显异常。我们强调了磁共振成像(MRI)随时间的变化以及从症状发作到各向同性弥散图(通常称为弥散加权成像(DWI))以及表观弥散系数(ADC)改变的延迟。

结论

我们简要回顾了与文献中报道的 ATP1A2 基因突变的体征/症状相关的影像学表现。描述各种突变及其相应表现可能有助于神经科医生识别偏瘫性偏头痛病例,这些病例可能包括在发作过程中 ADC 和 DWI 成像的短暂变化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7172/8059280/a14e8a0dc1f7/12883_2021_2201_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7172/8059280/a14e8a0dc1f7/12883_2021_2201_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7172/8059280/a14e8a0dc1f7/12883_2021_2201_Fig1_HTML.jpg

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本文引用的文献

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Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2.家族性偏瘫性偏头痛 2 型重度发作期间的多模态影像学表现。
J Neurol Sci. 2018 Sep 15;392:22-27. doi: 10.1016/j.jns.2018.06.019. Epub 2018 Jun 26.
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Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review.
两名表现为急性脑病的偏瘫型偏头痛儿科患者:病例报告及文献综述
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Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report.青少年患者行 ECT 后出现脑 MRI 改变伴持续性神经功能缺损:病例报告
BMC Neurol. 2022 Dec 9;22(1):466. doi: 10.1186/s12883-022-02994-7.
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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.婴儿癫痫伴复发性偏瘫,病因是 ATP1A2 复合杂合变异。
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