stroke-like episodes

中风样发作
  • 文章类型: Journal Article
    Sturge-Weber综合征(SWS)中的癫痫很常见,但是SWS中的药物难治性癫痫(DRE)很少在儿童中进行研究。我们调查了SWS患儿的癫痫特征和DRE的危险因素。回顾性分析2013年1月至2022年10月在我院就诊的SWS合并癫痫患儿的临床特点。采用单因素和多因素Logistic分析探讨SWS患儿DRE的影响因素。共纳入35例SWS癫痫患儿(51%为男性;平均年龄3.6±0.5岁),71%的SWS儿童在出生后的第一年内首次癫痫发作,最常见的癫痫发作类型是局灶性癫痫发作(77%).11例(31%)患者发生DRE。首次癫痫发作的中位发病年龄为1.0岁,所有这些病例均为SWSI型。多因素逻辑分析显示,中风样发作和癫痫群是SWS儿童DRE的危险因素。在25名SWS儿童中观察到神经功能不良组。癫痫持续状态是影响SWS癫痫患儿神经功能的危险因素。结论:本研究探讨了SWS患儿的癫痫特征。结果显示,中风样发作和癫痫发作群是SWS儿童DRE的危险因素。癫痫持续状态的发生会影响SWS癫痫患儿的神经功能。因此,长期随访对于监测结果是必要的.已知:•Sturge-Weber综合征(SWS)是一种罕见的神经皮肤疾病,超过75%的SWS儿童经历癫痫发作,30-57%的人发展为药物难治性癫痫(DRE),这导致了糟糕的结果。•SWS中的药物难治性癫痫很少在儿童中进行研究,与DRE相关的危险因素尚不清楚。新增内容:•患有药物难治性癫痫的SWS儿童的临床特征。•在SWS中,中风样发作和癫痫发作群是DRE的危险因素,癫痫持续状态的发生会影响神经功能。
    Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.  Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.
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  • 文章类型: Multicenter Study
    目的:PMM2-CDG患者发生急性事件(卒中样发作(SLE),血栓形成,出血,癫痫发作,偏头痛)与凝血因子(XI因子)和凝血抑制剂(抗凝血酶,蛋白C和蛋白S)缺乏。该研究的目的是将急性事件与止血相关联,并提出实用指南。
    方法:在这项多中心回顾性研究中,我们评估了临床,放射学,因急性事件住院的PMM2-CDG患者的止血和脑电图数据。脑事件被归类为血栓形成,出血,SLE,或“模仿中风”(SM:正常的大脑成像或引起偏头痛)。
    结果:13例患者共发生31次急性发作:27次脑部事件,7次SLE,4静脉血栓形成,4次出血(3次与血栓形成有关),15名平均年龄为7.7岁的SMs;4名非脑血栓形成,其中之一包括出血。经常涉及触发因素(感染,头部创伤)。虽然有时在基线状态下是正常的,因子XI,抗凝血酶和蛋白C水平在这些发作期间下降。未发现止血异常与急性事件类型之间存在相关性。
    结论:PMM2-CDG的急性事件不可忽视,并且与止血异常相关。提出了预防和治疗的紧急协议(https://www。filiere-g2m。fr/urgences)。对于大脑事件,脑磁共振成像与灌注重量成像和扩散序列,脑电图和止血蛋白水平指导治疗:抗凝,抗凝血酶或新鲜冷冻血浆补充剂,抗癫痫治疗.手术时需要预防出血和血栓形成,长时间固定,激素替代疗法.
    结论:PMM2-CDG的急性事件与异常止血有关,需要实际指导。
    Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.
    In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events. Cerebral events were classified as thrombosis, haemorrhage, SLE, or \"stroke mimic\" (SM: normal brain imaging or evoking a migraine).
    Thirteen patients had a total of 31 acute episodes: 27 cerebral events with 7 SLEs, 4 venous thromboses, 4 haemorrhages (3 associated with thrombosis), 15 SMs at a mean age of 7.7 years; 4 non-cerebral thromboses, one of which included bleeding. A trigger was frequently involved (infection, head trauma). Although sometimes normal at baseline state, factor XI, antithrombin and protein C levels decreased during these episodes. No correlation between haemostasis anomalies and type of acute event was found.
    Acute events in PMM2-CDG are not negligible and are associated with haemostasis anomalies. An emergency protocol is proposed for their prevention and treatment (https://www.filiere-g2m.fr/urgences). For cerebral events, brain Magnetic Resonance Imaging with perfusion weight imaging and diffusion sequences, electroencephalogram and haemostasis protein levels guide the treatment: anticoagulation, antithrombin or fresh frozen plasma supplementation, antiepileptic therapy. Preventing bleeding and thrombosis is required in cases of surgery, prolonged immobilization, hormone replacement therapy.
    Acute events in PMM2-CDG are associated with abnormal haemostasis, requiring practical guidance.
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  • 文章类型: Journal Article
    线粒体(m。)3243A>G突变已知与各种线粒体疾病相关,包括线粒体肌病,脑病,乳酸性酸中毒,和中风样发作(MELAS)。据估计,它们的临床症状与线粒体DNA(mtDNA)异质性增加和氧化磷酸化(OXPHOS)复合物的活性降低有关。但是他们在中枢神经系统的趋势仍然未知。本研究纳入了6例尸检突变病例和3例没有突变的疾病对照病例。突变病例的病程为1-27年。6例突变病例中有5例与MELAS相容。在突变病例中,在顶叶经常观察到包括层状坏死在内的皮质病变,颞侧,和枕叶;在额叶包括中央前回的频率较低;在内侧颞叶完全没有。突变病例的脑组织样本中的mtDNA异质性高得惊人,从53.8%到85.2%不等。尽管环境恶劣,mtDNA杂质和乳酸含量很高,但内侧颞叶仍得以保留。OXPHOS复合物I在突变病例中广泛减少。软脑膜上血管平滑肌细胞的肿胀,具有针对线粒体抗体的免疫反应性(IR),在所有突变病例中均观察到脉络膜上皮细胞的核/细胞质比率降低,但没有突变。在突变病例中并不总是观察到常见的神经病理学发现,例如皮质层状坏死和基底节钙化。尽管存在异质性皮质病变,但在整个大脑中仍观察到高水平的mtDNA异质体。缺乏内侧颞部病变,软脑膜上血管的线粒体血管病变,脉络丛上皮细胞的细胞质大小增加可能是神经病理学标志,有助于线粒体疾病的诊断。
    The mitochondrial (m.) 3243A>G mutation is known to be associated with various mitochondrial diseases including mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Their clinical symptoms have been estimated to occur with an increased mitochondrial DNA (mtDNA) heteroplasmy and reduced activity of oxidative phosphorylation (OXPHOS) complexes, but their trends in the central nervous system remain unknown. Six autopsied mutant cases and three disease control cases without the mutation were enrolled in this study. The mutant cases had a disease duration of 1-27 years. Five of six mutant cases were compatible with MELAS. In the mutant cases, cortical lesions including a laminar necrosis were frequently observed in the parietal, lateral temporal, and occipital lobes; less frequently in the frontal lobe including precentral gyrus; and not at all in the medial temporal lobe. The mtDNA heteroplasmy in brain tissue samples of the mutant cases was strikingly high, ranging from 53.8% to 85.2%. The medial temporal lobe was preserved despite an inhospitable environment having high levels of mtDNA heteroplasmy and lactic acid. OXPHOS complex I was widely decreased in the mutant cases. The swelling of smooth muscle cells in the vessels on the leptomeninges, with immunoreactivity (IR) against mitochondria antibody, and a decreased nuclear/cytoplasmic ratio of choroidal epithelial cells were observed in all mutant cases but in none without the mutation. Common neuropathological findings such as cortical laminar necrosis and basal ganglia calcification were not always observed in the mutant cases. A high level of mtDNA heteroplasmy was observed throughout the brain in spite of heterogeneous cortical lesions. A lack of medial temporal lesion, mitochondrial vasculopathy in vessels on the leptomeninges, and an increased cytoplasmic size of epithelial cells in the choroid plexus could be neuropathological hallmarks helpful in the diagnosis of mitochondrial diseases.
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  • 文章类型: Case Reports
    背景:线粒体脑肌病,乳酸性酸中毒,卒中样发作(MELAS)综合征是一种全身性疾病,其中线粒体代谢衰竭可能导致多器官功能障碍。MT-TL1基因的母体遗传突变是这种疾病的最常见原因。临床表现可能包括中风样发作,癫痫,痴呆症,头痛和肌病。其中,急性视觉障碍,通常与皮质盲有关,可能是由于影响枕骨皮质或视觉通路的中风样发作而发生的。视神经病变导致的视力丧失被认为是其他线粒体疾病的典型表现,例如Leber遗传性视神经病变(LHON)。
    方法:这里我们描述一个55岁的女人,先前描述的MELAS患者的姐妹具有m.3243A>G(p.0,MT-TL1)突变,没有明显的病史,表现为亚急性,一只眼睛的视力损害疼痛,伴有近端肌肉疼痛和头痛。在接下来的几周里,她出现严重和进行性视力丧失,仅限于一只眼睛。眼部检查证实视神经头单侧肿胀;荧光素血管造影显示视盘节段性灌注延迟和乳头状渗漏。神经影像学,血液和脑脊液检查和颞动脉活检排除了神经炎性疾病和巨细胞动脉炎(GCA)。线粒体测序分析证实了m.3243A>G转变,并排除了三种最常见的LHON突变,以及m.3376G>LHON/MELAS重叠综合征突变。根据我们患者的临床症状和体征,包括肌肉的参与,以及调查结果,将视神经病变诊断为影响视盘的卒中样事件.开始使用L-精氨酸和ubidecarenone疗法,旨在改善中风样发作症状和预防。视觉缺陷保持稳定,没有进一步的进展或新症状的爆发。
    结论:线粒体疾病必须始终考虑非典型临床表现,即使在良好描述的表型和外周组织中的突变负荷较低时。线粒体DNA(mtDNA)的有丝分裂分离不允许知道不同组织中存在的异质体的确切程度,如视网膜和视神经。重要的治疗意义来自线粒体疾病的非典型表现的正确诊断。
    BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among these, acute visual failure, usually in association with cortical blindness, can occur because of stroke-like episodes affecting the occipital cortex or the visual pathways. Vision loss due to optic neuropathy is otherwise considered a typical manifestation of other mitochondrial diseases such as Leber hereditary optic neuropathy (LHON).
    METHODS: Here we describe a 55-year-old woman, sister of a previously described patient with MELAS harbouring the m.3243A > G (p.0, MT-TL1) mutation, with otherwise unremarkable medical history, that presented with subacute, painful visual impairment of one eye, accompanied by proximal muscular pain and headache. Over the next weeks, she developed severe and progressive vision loss limited to one eye. Ocular examination confirmed unilateral swelling of the optic nerve head; fluorescein angiography showed segmental perfusion delay in the optic disc and papillary leakage. Neuroimaging, blood and CSF examination and temporal artery biopsy ruled out neuroinflammatory disorders and giant cell arteritis (GCA). Mitochondrial sequencing analysis confirmed the m.3243A > G transition, and excluded the three most common LHON mutations, as well as the m.3376G > A LHON/MELAS overlap syndrome mutation. Based on the constellation of clinical symptoms and signs presented in our patient, including the muscular involvement, and the results of the investigations, the diagnosis of optic neuropathy as a stroke-like event affecting the optic disc was performed. L-arginine and ubidecarenone therapies were started with the aim to improve stroke-like episode symptoms and prevention. The visual defect remained stable with no further progression or outbreak of new symptoms.
    CONCLUSIONS: Atypical clinical presentations must be always considered in mitochondrial disorders, even in well-described phenotypes and when mutational load in peripheral tissue is low. Mitotic segregation of mitochondrial DNA (mtDNA) does not allow to know the exact degree of heteroplasmy existent within different tissue, such as retina and optic nerve. Important therapeutic implications arise from a correct diagnosis of atypical presentation of mitochondrial disorders.
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  • 文章类型: Journal Article
    目的:中风样发作(SLE)被定义为模仿中风和放射学病变与血管区域不一致的神经系统症状的急性发作。我们旨在分析SLE的急性临床和放射学特征,以确定其病理生理学。
    方法:我们在20年间对60名儿童的120个SLE进行了单中心回顾性分析。纳入标准是在非血管区域的弥散加权成像中,在脑磁共振成像(MRI;对所有120例事件进行)上具有局灶性高强度的兼容临床症状和中风样病变。
    结果:确定了三组:线粒体疾病儿童(n=22),涉及线粒体DNA突变(55%)或核DNA突变(45%);患有其他代谢疾病或癫痫疾病的儿童(n=22);以及尽管进行了广泛调查但未发现病因的儿童(n=16)。在患有代谢或癫痫疾病的组中,第一次SLE的年龄较年轻(18个月与128个月;p<0.0001),感染触发更频繁(69%vs.20%;p=0.0001)。癫痫发作发生在75%的发作中,显示50%的SLE发作,主要导致癫痫持续状态(90%)。在确认诊断的120次核磁共振扫描中,28在短而严格的48小时内进行,并进一步分析以更好地了解潜在的机制。扫描显示原发性皮质高强度(n=28/28),在52%的病例中表观扩散系数降低。当可用时,在自旋标记序列上发现系统性过度灌注(n=18/18)。
    结论:临床和放射学结果支持基于两种主要机制的恶性循环的存在:SLE起源的能量缺乏和神经元过度兴奋。
    Stroke-like episodes (SLEs) are defined as acute onset of neurological symptoms mimicking a stroke and radiological lesions non-congruent to vascular territory. We aimed to analyze the acute clinical and radiological features of SLEs to determine their pathophysiology.
    We performed a monocenter retrospective analysis of 120 SLEs in 60 children over a 20-year period. Inclusion criteria were compatible clinical symptoms and stroke-like lesions on brain magnetic resonance imaging (MRI; performed for all 120 events) with focal hyperintensity on diffusion-weighted imaging in a non-vascular territory.
    Three groups were identified: children with mitochondrial diseases (n = 22) involving mitochondrial DNA mutations (55%) or nuclear DNA mutations (45%); those with other metabolic diseases or epilepsy disorders (n = 22); and those in whom no etiology was found despite extensive investigations (n = 16). Age at first SLE was younger in the group with metabolic or epilepsy disorders (18 months vs. 128 months; p < 0.0001) and an infectious trigger was more frequent (69% vs. 20%; p = 0.0001). Seizures occurred in 75% of episodes, revealing 50% episodes of SLEs and mainly leading to status epilepticus (90%). Of the 120 MRI scans confirming the diagnosis, 28 were performed within a short and strict 48-h period and were further analyzed to better understand the underlying mechanisms. The scans showed primary cortical hyperintensity (n = 28/28) with decreased apparent diffusion coefficient in 52% of cases. Systematic hyperperfusion was found on spin labeling sequences when available (n = 18/18).
    Clinical and radiological results support the existence of a vicious circle based on two main mechanisms: energy deficit and neuronal hyperexcitability at the origin of SLE.
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  • 文章类型: Case Reports
    类风湿性关节炎(RM)是类风湿性关节炎(RA)的罕见并发症,可表现为中风样发作。我们介绍了一名63岁的女性,其既往有重叠综合征(OS)病史,临床表现提示肌病性皮肌炎,类风湿性关节炎,和系统性红斑狼疮。她突然出现右侧笨拙和麻木,并有2周的左半脑型头痛史。实验室检查显示血清抗核抗体(ANA)阳性,抗Ro抗体,抗瓜氨酸肽抗体(ACPA),和类风湿因子(RF)升高。淋巴细胞增多症,具有被动扩散模式的ACPA和抗Ro抗体阳性,和阴性的微生物学研究在CSF中被证明。脑部MRI显示主要是左额顶枕骨软脑膜和钩膜增强。我们诊断为RM,并开始每天一次静脉注射甲基强的松龙mg/kg。在脑脊液淋巴细胞增多和脑膜增强的患者中,中风样发作应引起对RM的怀疑。在这种情况下,应始终测量血清RF和ACPA水平,也应在CSF中测量ACPA。据我们所知,这是在操作系统背景下报告的第一个RM案例。CSF中的ACPA水平可能是中枢神经系统(CNS)紊乱和包括RA在内的重叠自身免疫性疾病的相关诊断线索。在我们的案例中,提示RM的临床情景的存在加强了ACPA在CNS中可能的致病作用,即使没有鞘内合成的证据。
    Rheumatoid meningitis (RM) is a rare complication of rheumatoid arthritis that can manifest as stroke-like episodes. We present the case of a 63-year-old woman with a past history of overlap syndrome and clinical manifestations suggestive of amyopathic dermatomyositis, rheumatoid arthritis, and systemic lupus erythematosus. She presented to the emergency department with sudden onset right-sided clumsiness and numbness, as well as a 2-week history of left hemicranial headache. Laboratory workup revealed positive serum antinuclear antibodies, anti-Ro antibodies, anti-citrullinated peptide antibodies (ACPA), and elevated rheumatoid factor. Lymphocytic pleocytosis, positive ACPA and anti-Ro antibodies with passive diffusion pattern, and negative microbiological studies were demonstrated in the CSF. Brain magnetic resonance imaging showed predominant left fronto-parieto-occipital leptomeningeal and pachimeningeal enhancement. She was diagnosed with RM and received methylprednisolone IV mg/kg once daily. Stroke-like episodes in the setting of a patient with lymphocytic pleocytosis in the cerebrospinal fluid (CSF) and meningeal enhancement should raise suspicion of RM. In this context, serum rheumatoid factor and ACPA levels should always be measured and ACPA should also be measured in CSF. To our knowledge, this is the first reported case of RM in the context of an overlap syndrome. ACPA levels in CSF could be a relevant diagnostic clue in the setting of central nervous system disturbance and overlapping autoimmune conditions that include rheumatoid arthritis. In our case, the presence of a suggestive clinical scenario of RM reinforces the probable pathogenic role of ACPA when it is present in the central nervous system, even without intrathecal synthesis evidence.
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  • 文章类型: Journal Article
    未经证实:线粒体脑肌病伴乳酸性酸中毒和中风样发作(MELAS)是最常见的遗传性线粒体疾病之一。由于MELAS的高临床和遗传异质性,对于临床医生来说,在早期阶段准确诊断疾病仍然是一个主要挑战。在这里,我们评估了MT-TL1中m.3243A>G突变的MELAS的神经影像学表现,并分析了卒中样发作可能的潜在发病机制.
    UNASSIGNED:在我们的病例系列中,对24例确诊为m.3243A>G(MT-TL1;tRNALeu)的患者进行了59项影像学检查。解剖位置,形态特征,在磁共振成像(MRI)上分析了病变的信号/强度特征和时间演变,和计算机断层扫描(CT)图像。还通过使用MR血管造影(MRA)/CT血管造影(CTA)评估病变的供血血管和代谢物含量,和MR光谱(MRS),分别。
    未经证实:病变最常见于后脑,枕叶37(37/59,63%),32(32/59,54%)在顶叶,颞叶30(30/59,51%)。病变的信号特征随时间变化和演变。在9例接受CT检查的患者中,有6例(67%)发现了双侧基底节钙化。在38/59(64%)和40/59(68%)患者中发现了脑和小脑萎缩,分别。在37/59(63%)的研究中发现了病变多态性。MRS显示9/10(90%)例的乳酸双峰升高。MRA或CTA显示,与6例病例中的4例(67%)相比,病变相关的动脉略微扩张。
    未经证实:MELAS的影像学特征因疾病分期而异。单次影像学检查中的多形性病变应被视为MELAS的诊断线索。中风样发作可能参与复杂的发病过程,包括线粒体血管病,线粒体细胞病,和神经元兴奋性毒性。
    UNASSIGNED: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common inherited mitochondrial disorders. Due to the high clinical and genetic heterogeneity of MELAS, it is still a major challenge for clinicians to accurately diagnose the disease at an early stage. Herein, we evaluated the neuroimaging findings of MELAS with an m.3243A>G mutation in MT-TL1 and analyzed the possible underlying pathogenesis of stroke-like episodes.
    UNASSIGNED: Fifty-nine imaging studies in 24 patients who had a confirmed genetic diagnosis of m.3243A>G (MT-TL1; tRNA Leu) associated with MELAS were reviewed in our case series. The anatomic location, morphological features, signal/intensity characteristics and temporal evolution of lesions were analyzed on magnetic resonance imaging (MRI), and computed tomography (CT) images. The supplying vessels and metabolite content of the lesions were also evaluated by using MR angiography (MRA)/CT angiography (CTA), and MR spectroscopy (MRS), respectively.
    UNASSIGNED: The lesions were most commonly located in the posterior brain, with 37 (37/59, 63%) in the occipital lobe, 32 (32/59, 54%) in the parietal lobe, and 30 (30/59, 51%) in the temporal lobe. The signal characteristics of the lesions varied and evolved over time. Bilateral basal ganglia calcifications were found in 6 of 9 (67%) patients who underwent CT. Cerebral and cerebellar atrophy were found in 38/59 (64%) and 40/59 (68%) patients, respectively. Lesion polymorphism was found in 37/59 (63%) studies. MRS showed elevated lactate doublet peaks in 9/10 (90%) cases. MRA or CTA revealed that the lesion-related arteries were slightly dilated compared with those of the contralateral side in 4 of 6 (67%) cases.
    UNASSIGNED: The imaging features of MELAS vary depending on the disease stage. Polymorphic lesions in a single imaging examination should be considered a diagnostic clue for MELAS. Stroke-like episodes may be involved in a complex pathogenetic process, including mitochondrial angiopathy, mitochondrial cytopathy, and neuronal excitotoxicity.
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  • 文章类型: Journal Article
    Clinical case of mitochondrial encephalomyopathy manifested with lactic acidosis and stroke-like episodes was presented. The patient diagnosis was performed in childhood, based on clinical manifestation, and was confirmed with molecular genetic test (mutation m.3243A>G in gene MT-TL1 was revealed). Appropriate patient management required united efforts of different medical specialists with simultaneous administration of different drugs, modulating intracellular energy production. Due to contemporary medical science achievements, life expectancy of patients with mitochondrial diseases increases, and in age 18 such patients should be treated by adult-practice physicians. Due to such pathology rare incidence the adult-practice medical practitioners are insufficiently informed about principles of mitochondrial disease treatment, that has negative influence on patients condition.
    Представлено клиническое наблюдение пациента с митохондриальной энцефаломиопатией, проявляющейся лактат-ацидозом и инсультоподобными эпизодами. Диагноз установлен в детском возрасте на основании клинических данных и подтвержден молекулярно-генетическим методом (мутация m.3243A>G в гене MT-TL1). Адекватное ведение пациента требует совместной работы врачей разных специальностей, назначения большого количества лекарственных препаратов, влияющих на различные этапы энергообразования в клетках. Благодаря успехам современной науки продолжительность жизни больных с митохондриальными заболеваниями увеличилась, по достижении 18 лет они переходят к неврологам, работающим со взрослыми пациентами. В связи с редкой встречаемостью заболевания у взрослых осведомленность о принципах ведения таких больных недостаточная, что негативным образом сказывается на состоянии пациентов.
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  • 文章类型: Journal Article
    线粒体脑肌病,乳酸性酸中毒和中风样发作(MELAS)综合征是最著名的线粒体疾病之一,大多数病例归因于m.3243A>G。MELAS综合征患者通常在生命的头二十年中表现出广泛的,以神经系统表现为主要特征的多系统表型-中风样发作。然而,在儿科患者中观察到明显的表型变异性,造成临床挑战并延迟诊断。
    对儿科MELAS综合征患者进行了文献综述,并对英国三级儿科神经病学中心进行了回顾性分析。
    这个案例系列包括三个孩子。所有患者均出现癫痫发作,并且MRI变化不限于单个血管区域。血液异质差异很大,一个病人需要做肌肉活检.基于114例患者的文献回顾,平均发病年龄为8.1岁,癫痫发作是卒中样发作最常见的表现.在大多数情况下,除血液以外的组织中的异型人质病较高。
    在有可疑神经系统症状的儿童中调查MELAS综合征的阈值应该较低。如果血液m.3243A>G分析为阴性,然而临床怀疑仍然很高,应考虑侵入性测试或进一步询问线粒体基因组。
    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most well-known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two decades of life with a broad, multi-systemic phenotype that predominantly features neurological manifestations--stroke-like episodes. However, marked phenotypic variability has been observed among paediatric patients, creating a clinical challenge and delaying diagnoses.
    A literature review of paediatric MELAS syndrome patients and a retrospective analysis in a UK tertiary paediatric neurology centre were performed.
    Three children were included in this case series. All patients presented with seizures and had MRI changes not confined to a single vascular territory. Blood heteroplasmy varied considerably, and one patient required a muscle biopsy. Based on a literature review of 114 patients, the mean age of presentation is 8.1 years and seizures are the most prevalent manifestation of stroke-like episodes. Heteroplasmy is higher in a tissue other than blood in most cases.
    The threshold for investigating MELAS syndrome in children with suspicious neurological symptoms should be low. If blood m.3243A>G analysis is negative, yet clinical suspicion remains high, invasive testing or further interrogation of the mitochondrial genome should be considered.
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  • 文章类型: Journal Article
    线粒体中风样事件是一种不断发展的亚急性神经综合征,与遗传决定的线粒体疾病中的癫痫发作活动和局灶性代谢脑紊乱有关。首字母缩写词“MELAS”(与乳酸性酸中毒和中风样病变相关的线粒体脑病)识别具有分子,经历中风样病变的线粒体疾病的生化和/或组织学证据。MELAS是一种罕见的遗传性线粒体疾病,与严重的多器官受累和应激诱导的代谢失代偿和乳酸性酸中毒有关。不幸的是,迄今为止,还没有针对中风样发作的病因疗法,治疗主要以抗癫痫药物和支持疗法为主。这篇观点文章讨论了MELAS患者的当前护理标准,并修改了线粒体中风样发作的当前和创新的新兴疗法。
    A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym \"MELAS\" (mitochondrial encephalopathy associated with lactic acidosis and stroke-like lesions) identifies subjects with molecular, biochemical and/or histological evidence of mitochondrial disorder who experience stroke-like lesions. MELAS is a rare inherited mitochondrial disease linked to severe multiorgan involvement and stress-induced episodes of metabolic decompensation and lactic acidosis. Unfortunately, there are no etiopathogenetic therapies for stroke-like episodes to date, and the treatment is mainly based on anti-epileptic drugs and supportive therapies. This perspective opinion article discusses the current care standards for MELAS patients and revises current and innovative emerging therapies for mitochondrial stroke-like episodes.
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