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Clinical Experience with Dimethyl Fumarate and Natalizumab in Pregnant Women with Multiple Sclerosis: A Four-Patient Case Series. 多发性硬化症孕妇使用富马酸二甲酯和纳他珠单抗的临床经验:四例患者病例系列。
IF 0.9 Q4 CLINICAL NEUROLOGY Pub Date : 2024-07-16 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7808140
Satoshi Saito, Ryotaro Ikeguchi, Kazuo Kitagawa, Yuko Shimizu

Interferon β and glatiramer acetate are the disease-modifying drugs (DMDs) considered relatively safe for use in pregnant women with multiple sclerosis (MS); however, the safety profile of dimethyl fumarate (DMF) and natalizumab (NTZ) in this population remains inconclusive. Here, we present four cases of pregnant women with MS who were treated with DMF and NTZ (n = 2 patients, each) during their pregnancy and discuss our observations with the use of these drugs and the clinical courses of the patients. We retrospectively examined relapse of MS during pregnancy and after delivery; duration of exposure to DMDs; maternal, fetal, and neonatal adverse events; breastfeeding; and timing of resumption of DMDs. The two patients treated with DMF discontinued treatment 5 or 6 weeks after the discovery of pregnancy. DMF was resumed 1 week postpartum, and mixed breastfeeding was initiated. Brain magnetic resonance imaging in one patient 9 months after delivery revealed a new lesion; however, it was not classified as a clinical relapse. In two patients treated with NTZ, the dosing interval was extended to 6 weeks after the discovery of pregnancy. One patient discontinued NTZ at 30 weeks and the other at 25 weeks of gestation, as a slight restriction in fetal growth was observed owing to hyperemesis gravidarum. Both patients opted for formula feeding, and no relapse was observed within 1 year postpartum. Additionally, no abnormalities were observed in any of the patients during the perinatal period, and their development was normal. Investigation of drug safety in pregnant and parturient women primarily relies on registries, postmarketing surveillance, and case reports due to ethical limitations on conducting randomized controlled trials. Our findings demonstrated that DMF and NTZ were not contraindicated during pregnancy or the perinatal period in women with MS; nevertheless, vigilant monitoring is essential to ensure the safety of these drugs.

多发性硬化症(MS)孕妇使用β干扰素和醋酸格拉替雷被认为是相对安全的疾病修饰药物(DMD);然而,富马酸二甲酯(DMF)和纳他珠单抗(NTZ)在这一人群中的安全性仍无定论。在此,我们介绍了四例在怀孕期间接受 DMF 和 NTZ 治疗的多发性硬化症孕妇(每例 2 人),并讨论了我们对这些药物的使用和患者临床病程的观察结果。我们回顾性地检查了多发性硬化症在妊娠期间和分娩后的复发情况;接触 DMDs 的持续时间;母体、胎儿和新生儿不良事件;母乳喂养;以及恢复使用 DMDs 的时间。两名接受DMF治疗的患者在发现怀孕5周或6周后停止了治疗。产后 1 周恢复使用 DMF,并开始混合母乳喂养。一名患者在产后 9 个月进行脑磁共振成像检查时发现了新的病灶,但未被归类为临床复发。在两名接受 NTZ 治疗的患者中,用药间隔延长至发现怀孕后 6 周。一名患者在妊娠 30 周时停用了 NTZ,另一名患者在妊娠 25 周时停用了 NTZ,原因是妊娠剧吐导致胎儿生长受到轻微限制。这两名患者都选择了配方奶喂养,产后一年内均未发现复发。此外,围产期也未发现异常,发育正常。由于开展随机对照试验存在伦理限制,对孕妇和产妇用药安全性的调查主要依赖于登记、上市后监测和病例报告。我们的研究结果表明,多发性硬化症妇女在妊娠期或围产期并不禁用DMF和NTZ;然而,警惕性监测对于确保这些药物的安全性至关重要。
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引用次数: 0
A Severe Alzheimer's Disease Patient Improved by Intravenous Mesenchymal Stem Cell Transplant. 静脉间充质干细胞移植改善了一名重度阿尔茨海默病患者的病情。
IF 0.9 Q4 CLINICAL NEUROLOGY Pub Date : 2024-07-15 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8353492
Takahiro Honda Pazili

Alzheimer's disease (AD) is a progressive neurological disorder and is the most common form of dementia. The terminal stage of AD is characterized by severe cognitive and substantial functional decline, requiring extensive assistance with daily activities. As effective therapies at this stage are not fully available, development of therapeutics that can recover any symptoms would be important to improve the quality of life. Recently, stem cell therapy has gathered a lot of attention in several neurological diseases, including AD. Here, we report an AD patient at the terminal stage whose symptoms were improved by the intravenous administration of ex vivo-expanded bone marrow-derived mesenchymal stem cells (MSC). The case is a 61-year-old woman with severe Alzheimer's disease who had been admitted to the special nursing home. She could neither walk nor sit up independently. She also did neither smile nor gaze properly when talked to. Rigidity including neck motion was observed. She was on dysphagia diets. We cultured her bone-marrow-derived MSCs and intravenously administered 1,5 × 108 cells. After the treatment, smile loss, eye movement dysfunction, and neck immobility were improved. This is the first case report that showed the therapeutic effects of MSCs on terminal symptoms of AD.

阿尔茨海默病(AD)是一种进行性神经系统疾病,也是最常见的痴呆症。阿尔茨海默氏症晚期的特征是认知能力和功能严重衰退,日常活动需要大量协助。由于在这一阶段还没有完全有效的疗法,因此开发能够恢复任何症状的疗法对于改善生活质量非常重要。最近,干细胞疗法在包括AD在内的多种神经系统疾病中备受关注。在此,我们报告了一名处于晚期的AD患者,通过静脉注射活体扩增的骨髓间充质干细胞(MSC),其症状得到了改善。该病例是一名患有严重阿尔茨海默氏症的61岁女性,曾入住特殊疗养院。她既不能独立行走,也不能独立坐起。与她交谈时,她既不会微笑,也不会正常注视。她的颈部活动僵硬。她正在接受吞咽困难饮食治疗。我们培养了她的骨髓间充质干细胞,并静脉注射了 1,5 × 108 个细胞。治疗后,她的微笑消失、眼球运动障碍和颈部活动障碍均得到了改善。这是首例显示间充质干细胞对 AD 终末症状有治疗作用的病例报告。
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引用次数: 0
Impact of Focal Muscle Vibration on Flaccid Upper Limb Motor Paralysis following Acute Brain Disease: A Case Study. 病灶肌肉振动对急性脑病后弛缓性上肢运动麻痹的影响:病例研究
IF 0.9 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2469074
Hirotaka Saito, Haruka Kobayashi, Kodai Oba, Yosuke Hamaya

Focal muscle vibration (FMV) is increasingly being recognized as a rehabilitative therapy for enhancing motor function in central nervous system (CNS) diseases, particularly in patients with fine motor control deficits stemming from CNS damage. Brain lesions from these diseases disrupt the motor networks, necessitating novel rehabilitation strategies. By applying vibrations to muscles, FMV stimulates sensory fibers to induce cortical activity and kinesthetic illusions. While initial studies have highlighted FMV's role in reducing spasticity, recent evidence points to its potential in treating motor paralysis. However, prior research has been limited by the lack of acute-phase studies and a focus on patients with minimal muscle contraction capability. This report aimed to explore FMV's efficacy on upper limb motor function in patients with flaccid motor paralysis immediately after acute CNS diseases. We report the case of a septuagenarian male with a brain abscess in the right parietal lobe, leading to flaccid motor paralysis. Rehabilitation included 28 sessions of occupational and physical therapy that incorporated FMV. Significant improvements were observed in upper extremity function, with moderate to very large effect sizes, while lower limb function showed lesser improvement without adverse effects. This case suggests the utility of FMV in enhancing upper-limb motor function after acute CNS injuries, potentially serving as a supplementary therapy for spontaneous recovery. This report contributes to emerging evidence on FMV's benefits in acute flaccid motor paralysis, expanding the documented therapeutic scope.

病灶肌肉振动(FMV)越来越被视为一种康复疗法,可增强中枢神经系统(CNS)疾病患者的运动功能,尤其是中枢神经系统受损导致精细运动控制功能障碍的患者。这些疾病引起的脑损伤会破坏运动网络,因此需要新的康复策略。通过对肌肉施加振动,调频伏特可刺激感觉纤维,诱发大脑皮层活动和运动错觉。虽然最初的研究强调了调频伏特在减轻痉挛方面的作用,但最近的证据表明它在治疗运动性瘫痪方面具有潜力。然而,之前的研究由于缺乏急性期研究和只关注肌肉收缩能力极弱的患者而受到限制。本报告旨在探讨 FMV 对急性中枢神经系统疾病后即刻出现弛缓性运动麻痹的患者上肢运动功能的疗效。我们报告了一例七旬男性患者的病例,该患者因右侧顶叶脑脓肿而导致弛缓性运动麻痹。康复治疗包括 28 个疗程的职业疗法和物理疗法,其中纳入了调频变压器。患者的上肢功能得到了明显改善,疗效达到中等至非常大,而下肢功能改善较小,但无不良反应。该病例表明,调强核磁共振可用于增强急性中枢神经系统损伤后的上肢运动功能,有可能成为自发恢复的辅助疗法。本报告为 FMV 在急性弛缓性运动麻痹中的益处提供了新的证据,扩大了有据可查的治疗范围。
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引用次数: 0
Efgartigimod as Rescue Medication in a Patient with Therapy-Refractory Myasthenic Crisis. 将依夫加替莫德作为治疗难治性肌无力危象患者的救治药物
IF 0.9 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-14 eCollection Date: 2024-01-01 DOI: 10.1155/2024/9455237
Omar Alhaj Omar, Norma J Diel, Stefan T Gerner, Anna Mück, Hagen B Huttner, Heidrun H Krämer-Best

Myasthenic crises (MC) are potentially life-threatening acute exacerbations of myasthenia gravis (MG) characterized by profound muscle weakness, bulbar symptoms, and potential for respiratory failure. Intravenous immunoglobulins (IVIG) and plasma exchange (PLEX) are conventional treatments for myasthenic exacerbations. Recently, new therapeutic options for generalized acetylcholine-receptor antibody positive (AchR+) MG were approved as an add-on therapy. They mainly consist of complement C5 inhibitors such as eculizumab and ravulizumab and neonatal Fc receptor antagonists such as efgartigimod with the approval of more options pending, e.g., zilucoplan and rozanolixizumab. More therapeutic options are in the pipeline. Although the data show a quick and reliable treatment response, these medications have not been studied for the therapy of myasthenic crisis. We present the case of a 57-year-old male with his first episode of generalized myasthenia gravis (MG) and positive acetylcholine-receptor antibodies (AchR+) who was transferred to our neurological intensive care unit with worsening generalized weakness, dysphagia, and respiratory distress. The crisis was triggered by pneumonia due to dysphagia. He was diagnosed with myasthenic crisis and treated with intravenous pyridostigmine, plasmapheresis (PLEX), and continued prednisone. Initial improvement was followed by deterioration, requiring readmission and additional PLEX. After a further decline, efgartigimod was administered, leading to significant improvement within 48 hours, as evidenced by reduced MG-ADL and QMG scores. The patient continued to improve and was stable enough for transfer to a rehabilitation facility. This case illustrates the potential of efgartigimod as a novel treatment for refractory myasthenic crises.

肌无力危象(MC)是一种可能危及生命的重症肌无力症(MG)急性加重期,其特点是肌肉极度无力、出现球部症状并可能导致呼吸衰竭。静脉注射免疫球蛋白(IVIG)和血浆置换(PLEX)是治疗肌无力加重的传统方法。最近,针对全身乙酰胆碱受体抗体阳性(AchR+)的 MG 的新疗法被批准作为附加疗法。它们主要包括补体 C5 抑制剂(如 eculizumab 和 ravulizumab)和新生儿 Fc 受体拮抗剂(如 efgartigimod),还有更多治疗方案(如 zilucoplan 和 rozanolixizumab)有待批准。更多的治疗方案正在审批中。尽管数据显示治疗反应迅速可靠,但这些药物尚未用于肌无力危象的治疗研究。我们报告了一例 57 岁男性患者的病例,他是第一次全身性肌无力(MG)发作,乙酰胆碱受体抗体(AchR+)阳性,因全身乏力、吞咽困难和呼吸窘迫恶化而转入我们的神经重症监护病房。由于吞咽困难,肺炎引发了危机。他被诊断为肌无力危象,接受了静脉注射吡啶斯的明、血浆置换术(PLEX)和持续泼尼松治疗。最初病情有所好转,但随后又出现恶化,需要再次入院并追加 PLEX。病情进一步恶化后,患者接受了依加替莫德治疗,48 小时内病情明显好转,MG-ADL 和 QMG 评分均有所下降。患者病情持续好转,稳定到足以转入康复机构。本病例说明了依加替莫德作为一种新型疗法治疗难治性肌无力危象的潜力。
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引用次数: 0
Chronic Inflammatory Demyelinating Polyradiculoneuropathy with Diplopia Caused by an Alternative Coronavirus Disease 2019 Vaccine. 一种替代性冠状病毒病2019疫苗引发的伴有复视的慢性炎症性脱髓鞘多发性神经病
IF 0.9 Q4 CLINICAL NEUROLOGY Pub Date : 2024-06-11 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8584482
Satoshi Saito, Mutsumi Iijima, Misa Seki, Ayato Shimomura, Kazuo Kitagawa

The etiology of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) remains elusive and is believed to involve multiple contributing factors. There have been cases linking CIDP to the coronavirus disease 2019 (COVID-19) mRNA vaccine. However, there are no documented instances following alternative vaccines. We report a case of a 48-year-old woman, previously vaccinated with Pfizer-BioNTech's COVID-19 vaccine (BNT162b2), who subsequently received the Moderna mRNA-1273 vaccine. Within 2 days postvaccination, she developed diplopia and numbness in the lower limbs' distal extremities. Cerebrospinal fluid analysis exhibited protein-cell dissociation, while F-wave studies showed demyelinating activity in the bilateral tibial nerves. Given the disease's progressive nature, the patient was presumed to have CIDP and commenced steroid pulse therapy and intravenous immunoglobulin therapy. The onset of CIDP may be associated with variations in mRNA sequences and vaccine constituents.

慢性炎症性脱髓鞘多发性神经病(CIDP)的病因仍然难以捉摸,据信涉及多种诱因。有病例表明,CIDP 与冠状病毒病 2019(COVID-19)mRNA 疫苗有关。然而,目前还没有接种其他疫苗的病例记录。我们报告了一例 48 岁女性的病例,她之前接种了辉瑞生物技术公司的 COVID-19 疫苗 (BNT162b2),之后又接种了 Moderna mRNA-1273 疫苗。接种后 2 天内,她出现了复视和下肢远端麻木。脑脊液分析显示蛋白细胞离解,F 波研究显示双侧胫神经有脱髓鞘活动。考虑到疾病的进行性,患者被推测为患有脊髓灰质炎,并开始接受类固醇脉冲治疗和静脉注射免疫球蛋白治疗。CIDP 的发病可能与 mRNA 序列和疫苗成分的变化有关。
{"title":"Chronic Inflammatory Demyelinating Polyradiculoneuropathy with Diplopia Caused by an Alternative Coronavirus Disease 2019 Vaccine.","authors":"Satoshi Saito, Mutsumi Iijima, Misa Seki, Ayato Shimomura, Kazuo Kitagawa","doi":"10.1155/2024/8584482","DOIUrl":"10.1155/2024/8584482","url":null,"abstract":"<p><p>The etiology of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) remains elusive and is believed to involve multiple contributing factors. There have been cases linking CIDP to the coronavirus disease 2019 (COVID-19) mRNA vaccine. However, there are no documented instances following alternative vaccines. We report a case of a 48-year-old woman, previously vaccinated with Pfizer-BioNTech's COVID-19 vaccine (BNT162b2), who subsequently received the Moderna mRNA-1273 vaccine. Within 2 days postvaccination, she developed diplopia and numbness in the lower limbs' distal extremities. Cerebrospinal fluid analysis exhibited protein-cell dissociation, while F-wave studies showed demyelinating activity in the bilateral tibial nerves. Given the disease's progressive nature, the patient was presumed to have CIDP and commenced steroid pulse therapy and intravenous immunoglobulin therapy. The onset of CIDP may be associated with variations in mRNA sequences and vaccine constituents.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Syncope vs. Seizure: Ictal Bradycardia and Ictal Asystole. 晕厥与癫痫发作:心动过缓和心动过速。
IF 0.9 Pub Date : 2024-05-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1299282
Sumika Ouchida, Kaitlyn Parratt, Armin Nikpour, Greg Fairbrother

Background: Ictal arrhythmia is a rare condition that causes arrhythmic manifestations induced by epileptic seizures, including asystole or bradycardia. Ictal asystole (IA) is a very rare condition found in patients undergoing video-encephalography (EEG) monitoring. It is often related to temporal lobe epilepsy and can cause syncope, which can lead to injury or even death. Case Presentation. Two patients with epilepsy showed symptoms of syncope. Both patients underwent 4-day ambulatory EEG tests and were diagnosed with IA. Following the tests, the patients were implanted with a permanent pacemaker, and one of them underwent a temporal lobectomy. As a result of these procedures, the patients experienced a reduction in episodes of symptomatic syncope.

Conclusion: Patients with ictal asystole and symptomatic ictal bradycardia are at increased risk of falls due to seizures. Although there are no specific guidelines for managing this condition, antiseizure medications, epilepsy surgery, and cardiac pacemaker implantation have been effective treatments.

背景:异位性心律失常是一种罕见的疾病,由癫痫发作诱发心律失常表现,包括间歇或心动过缓。在接受视频脑电图(EEG)监测的患者中,极位性心律失常(IA)是一种非常罕见的病症。它通常与颞叶癫痫有关,可引起晕厥,导致受伤甚至死亡。病例介绍。两名癫痫患者出现晕厥症状。两名患者均接受了为期 4 天的动态脑电图检测,并被诊断为癫痫综合征。检查后,患者被植入了永久起搏器,其中一人还接受了颞叶切除术。通过这些治疗,患者症状性晕厥的发作次数有所减少:结论:发作性心搏骤停和症状性发作性心动过缓患者因癫痫发作而跌倒的风险增加。虽然目前还没有管理这种情况的具体指南,但抗癫痫药物、癫痫手术和心脏起搏器植入术都是有效的治疗方法。
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引用次数: 0
Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2. 婴儿肌张力障碍-帕金森氏症 2 型中的新型 SLC18A2 变体
IF 0.9 Pub Date : 2024-04-30 eCollection Date: 2024-01-01 DOI: 10.1155/2024/4767647
Sakari Kaasalainen, Harri Arikka, Mika H Martikainen, Valtteri Kaasinen

Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of trials with dopaminergic drugs and the condition of patients given levodopa almost always worsens and dopamine agonists give varying degrees of benefit to some. Here, we report a PKDYS2 patient with a new variant in the SLC18A2 gene who underwent multiple trials of pharmacotherapy. The abnormalities in development and neurological examination of the case were first noted at the age of 2 months, and after a series of treatment attempts (e.g., with antiepileptics) and diagnostic procedures, the diagnosis of PKDYS2 was determined when whole exome sequencing (WES) at age 6, revealed a homozygous pathologic variant NM_003054.4:c.1107dup, p.(Val370Serfs91) in the SLC18A2 gene. The patient then received treatment with multiple dopaminergic drugs (e.g., levodopa, pramipexole, and methylphenidate). The patient with PKDYS2 harbored a new variant in SLC18A2. The phenotype of the patient resembles that of some previously reported patients with PKDYS2. The patient received minor benefits from certain dopaminergic drugs, such as pramipexole, but side effects led to the discontinuation of tested medications.

婴儿肌张力障碍-帕金森氏症 2 型(PKDYS2)是一种罕见的常染色体隐性遗传运动障碍疾病,在婴儿期发病。该病与溶质运载家族 18 成员 A2 基因(SLC18A2)的突变有关。有报告称,在使用多巴胺能药物的试验中,服用左旋多巴的患者病情几乎总是恶化,而多巴胺激动剂则会给一些患者带来不同程度的益处。在此,我们报告了一名患有 SLC18A2 基因新变异的 PKDYS2 患者,该患者接受了多种药物治疗试验。该病例在 2 个月大时首次发现发育异常和神经系统检查异常,经过一系列治疗尝试(如使用抗癫痫药)和诊断程序后,在 6 岁时进行的全外显子组测序(WES)发现 SLC18A2 基因存在同卵病理变异 NM_003054.4:c.1107dup,p.(Val370Serfs∗91),从而确定了 PKDYS2 的诊断。患者随后接受了多种多巴胺能药物(如左旋多巴、普拉克索和哌醋甲酯)的治疗。PKDYS2患者携带SLC18A2的一个新变体。该患者的表型与之前报道的一些 PKDYS2 患者相似。该患者从某些多巴胺能药物(如普拉克索)中略有获益,但副作用导致其停药。
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引用次数: 0
Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female 巨型视网膜星形细胞瘤:一名年轻女性结节性硬化症的罕见病例报告
IF 0.9 Pub Date : 2024-04-24 DOI: 10.1155/2024/5559615
Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000−10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.
结节性硬化症(TS)是一种罕见的多系统常染色体显性遗传疾病,其特征性病理基因突变涉及 TSC(结节性硬化症复合体)基因组。眼部症状相当常见,包括色素沉着斑和视网膜星形细胞瘤,其最大尺寸通常在 0.5 至 5 毫米之间。据估计,结节性硬化症的发病率为 1/5000-10/000,有家族性和散发性病例的报道。结节性硬化症的诊断标准包括主要和/或次要临床特征以及基因突变。我们为大家介绍一例 15 岁女孩的病例,她有癫痫发作和视力模糊的病史。体格检查发现其面部有血管纤维瘤。进一步评估,包括脑部对比增强磁共振成像和眼科会诊,最终诊断为结节性硬化症。其他影像学检查证实了患者存在脐下巨细胞星形细胞瘤、视网膜星形细胞瘤、肺部淋巴管瘤和肾血管肌脂肪瘤。本病例强调了在患者出现癫痫发作和眼部症状时考虑结节性硬化症的重要性。本病例揭示了早期诊断和适当治疗对预防并发症和改善患者预后的重要性。
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引用次数: 0
Segawa Syndrome, a Dramatic Response to Dopamine 濑川综合征,对多巴胺的剧烈反应
IF 0.9 Pub Date : 2024-03-31 DOI: 10.1155/2024/8154006
Omkar Dhungel, Amit Shrestha, Pawan Sharma, N. Sapkota, Raju Paudel
Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dramatically to levodopa. It is a clinical diagnosis, but the level of pterins in cerebrospinal fluid and guanosine triphosphate cyclohydrolase-1 (GTCH 1) gene mutation testing done by molecular genetic testing are confirmatory. Our case is a 45-year female with a family history of similar illness expressed as autosomal recessive inheritance pattern. She had symptoms onset at an early age of 13 years with features of dystonia of predominantly lower limbs, hence the inability to maintain posture and walk. Dramatic improvement with levodopa but sudden deterioration to dystonia due to noncompliance was evident in our patient with troublesome features of concomitant adjustment disorder during presentation.
濑川综合征通常表现为肌张力障碍、步态障碍和疲劳,并可能与痉挛相混淆。濑川综合征又称多巴胺反应性肌张力障碍(DRD),如果患儿出现病因不明的阵发性或进行性肌张力过高,且对左旋多巴反应剧烈,则应考虑该病。这是一种临床诊断,但脑脊液中的蝶呤水平和分子遗传学检测中的三磷酸鸟苷环化酶-1(GTCH 1)基因突变检测可以确诊。我们的病例是一名 45 岁女性,家族中有类似病史,表现为常染色体隐性遗传模式。她在 13 岁时发病,主要表现为下肢肌张力障碍,因此无法保持姿势和行走。患者服用左旋多巴后病情明显好转,但由于不遵医嘱,病情突然恶化为肌张力障碍。
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引用次数: 0
Ataxia and Seizures despite Phenytoin: A Case Report Highlighting the Importance of TDM and Genetic Influences 服用苯妥英后出现共济失调和癫痫发作:一份突显 TDM 重要性和遗传影响的病例报告
IF 0.9 Pub Date : 2024-03-20 DOI: 10.1155/2024/2888895
Rachel Manoj, Arpita Meher, Jefry Winner G.
Adverse drug reactions to commonly prescribed medications such as phenytoin, used for seizures, often go undetected due to various factors. This case report highlights a 52-year-old male diagnosed with late-onset epilepsy who was prescribed phenytoin. Despite the standard dosage, the patient experienced toxicity symptoms and a seizure, prompting admission for assessment. Laboratory tests and imaging were inconclusive, leading to a therapeutic drug monitoring (TDM) consultation, which revealed elevated phenytoin levels. Genetic testing for CYP2C9 polymorphisms was not feasible but noted as significant, especially in populations with higher prevalence. Phenytoin was tapered, leading to the patient’s gradual recovery upon discontinuation and transition to valproate. The Naranjo scale predicted potential adverse drug responses (ADRs). This case underscores the significance of TDM, genetic considerations in drug metabolism, and the need to be vigilant in treating epilepsy to prevent such adverse events.
由于各种因素,用于治疗癫痫发作的苯妥英等常用处方药的药物不良反应往往不被发现。本病例报告重点介绍了一名 52 岁的男性患者,他被诊断为晚发性癫痫,处方为苯妥英。尽管服用了标准剂量,患者还是出现了中毒症状和癫痫发作,因此需要入院进行评估。实验室检查和影像学检查均未得出结论,因此进行了治疗药物监测(TDM)会诊,结果显示苯妥英水平升高。无法进行 CYP2C9 多态性基因检测,但注意到其意义重大,尤其是在发病率较高的人群中。患者在停用苯妥英并过渡到丙戊酸钠后逐渐恢复。纳兰霍量表预测了潜在的药物不良反应(ADRs)。本病例强调了 TDM 的重要性、药物代谢中的遗传因素以及在治疗癫痫时提高警惕以防止此类不良反应发生的必要性。
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引用次数: 0
期刊
Case Reports in Neurological Medicine
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