Case Reports in Neurological Medicine最新文献

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Longitudinal Extensive Transverse Myelitis due to Varicella-Zoster Virus Infection in an Undiagnosed HIV-Positive Patient. 一名未确诊的 HIV 阳性患者因水痘-带状疱疹病毒感染引发的纵向广泛横贯性脊髓炎
IF 0.9
Case Reports in Neurological Medicine Pub Date : 2024-07-18 eCollection Date: 2024-01-01 DOI: 10.1155/2024/9027198
Elahe Yaghmaei, Ahmad Najafi, Reza Daneshvar Kakhki
{"title":"Longitudinal Extensive Transverse Myelitis due to Varicella-Zoster Virus Infection in an Undiagnosed HIV-Positive Patient.","authors":"Elahe Yaghmaei, Ahmad Najafi, Reza Daneshvar Kakhki","doi":"10.1155/2024/9027198","DOIUrl":"10.1155/2024/9027198","url":null,"abstract":"<p><strong>Introduction: </strong>Longitudinal extensive transverse myelitis (LETM) has four main causes: inflammatory, malnutrition, vascular, and infectious causes. Among the commonly described viral causes leading to LETM are the <i>Herpesviridae</i> family, HIV, and HTLV-1. <i>Case Presentation</i>. A 43-year-old man presented with asymmetric weakness of the lower limbs (the left side was weaker), urinary retention, and flank pain. The symptoms began five days after shingle eruption and progressed over twelve days. He was diagnosed with longitudinal extensive transvers myelitis extending from T4 to T6, which corresponded to the same dermatome involved in shingles. The PCR result of cerebrospinal fluid was positive for varicella-zoster virus with a viral load of 500 copies/ml. Additionally, the initial HIV enzyme-linked immunosorbent assay (ELISA) test was positive, and his CD4 count was 72 cells/mm<sup>3</sup>. Other lab results were normal. Based on the appearance of LETM in the thoracic MRI at T4-T6, VZV myelitis was diagnosed, and treatment was initiated with acyclovir (30 mg/kg divided daily for twenty-one days), methylprednisolone (1 g/day for three days), prophylactic antibiotics (trimethoprim/sulfamethoxazole, rifampin, and isoniazid), and antiretroviral therapy (dolutegravir and Truvada). After 2-month follow-up, he was nearly free of symptoms.</p><p><strong>Conclusion: </strong>Infection is one of the critical causes of transverse myelitis. When a patient presents with skin shingles along with myelopathy, varicella-zoster myelitis should be considered, and the patient should be evaluated in terms of immune system dysfunction. Treatment with acyclovir has been shown to be effective in reducing clinical symptoms in such cases.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"9027198"},"PeriodicalIF":0.9,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11272404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757307","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
Life-Threatening Anaphylaxis due to Cerebrolysin®. 脑活素®引起的危及生命的过敏性休克。
IF 0.9
Case Reports in Neurological Medicine Pub Date : 2024-07-18 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2332908
Helmut Trimmel, Wolfgang Tauber, Martin Zikeli
{"title":"Life-Threatening Anaphylaxis due to Cerebrolysin®.","authors":"Helmut Trimmel, Wolfgang Tauber, Martin Zikeli","doi":"10.1155/2024/2332908","DOIUrl":"10.1155/2024/2332908","url":null,"abstract":"<p><p>In this case report, we describe a well-documented, severe anaphylactic reaction after intravenous administration of cerebrolysin, a neurotrophic agent derived from highly purified porcine brain tissue, consisting of peptides and free amino acids. Cerebrolysin has been in use for decades, in various neurological diseases, but especially stroke and traumatic brain injury, with the aim of enhancing cognitive performance. After administration of cerebrolysin to an 85-year-old male patient suffering from subacute stroke, he developed a fulminant anaphylactic reaction. Following institutional standards, vital functions were quickly restored. The anaphylactic reaction was clearly confirmed by laboratory tests. To date, only rare cases of anaphylaxis due to cerebrolysin have been published in the literature. The current report is intended to raise awareness for the possibility of such a reaction, given the widespread use of cerebrolysin in several indications in mostly critical patients. The case shows how a completely unexpected life-threatening situation can be successfully treated by targeted measures, if the situation is recognized quickly. In light of this event, we consider pathophysiology of allergic reactions and treatment guidelines.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"2332908"},"PeriodicalIF":0.9,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11272398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757306","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
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
Case Reports in Neurological Medicine Pub Date : 2024-07-16 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7808140
Satoshi Saito, Ryotaro Ikeguchi, Kazuo Kitagawa, Yuko Shimizu
{"title":"Clinical Experience with Dimethyl Fumarate and Natalizumab in Pregnant Women with Multiple Sclerosis: A Four-Patient Case Series.","authors":"Satoshi Saito, Ryotaro Ikeguchi, Kazuo Kitagawa, Yuko Shimizu","doi":"10.1155/2024/7808140","DOIUrl":"10.1155/2024/7808140","url":null,"abstract":"<p><p>Interferon <i>β</i> 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 (<i>n</i> = 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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"7808140"},"PeriodicalIF":0.9,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11265946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751199","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
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
Case Reports in Neurological Medicine Pub Date : 2024-07-15 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8353492
Takahiro Honda Pazili
{"title":"A Severe Alzheimer's Disease Patient Improved by Intravenous Mesenchymal Stem Cell Transplant.","authors":"Takahiro Honda Pazili","doi":"10.1155/2024/8353492","DOIUrl":"10.1155/2024/8353492","url":null,"abstract":"<p><p>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 <i>ex vivo</i>-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 × 10<sup>8</sup> 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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"8353492"},"PeriodicalIF":0.9,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11262880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747538","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
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
Case Reports in Neurological Medicine Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2469074
Hirotaka Saito, Haruka Kobayashi, Kodai Oba, Yosuke Hamaya
{"title":"Impact of Focal Muscle Vibration on Flaccid Upper Limb Motor Paralysis following Acute Brain Disease: A Case Study.","authors":"Hirotaka Saito, Haruka Kobayashi, Kodai Oba, Yosuke Hamaya","doi":"10.1155/2024/2469074","DOIUrl":"10.1155/2024/2469074","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"2469074"},"PeriodicalIF":0.9,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491010","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
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
Case Reports in Neurological Medicine 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
{"title":"Efgartigimod as Rescue Medication in a Patient with Therapy-Refractory Myasthenic Crisis.","authors":"Omar Alhaj Omar, Norma J Diel, Stefan T Gerner, Anna Mück, Hagen B Huttner, Heidrun H Krämer-Best","doi":"10.1155/2024/9455237","DOIUrl":"https://doi.org/10.1155/2024/9455237","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"9455237"},"PeriodicalIF":0.9,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11211016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466409","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
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
Case Reports in Neurological Medicine 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
{"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":"2024 ","pages":"8584482"},"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
Case Reports in Neurological Medicine Pub Date : 2024-05-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1299282
Sumika Ouchida, Kaitlyn Parratt, Armin Nikpour, Greg Fairbrother
{"title":"Syncope vs. Seizure: Ictal Bradycardia and Ictal Asystole.","authors":"Sumika Ouchida, Kaitlyn Parratt, Armin Nikpour, Greg Fairbrother","doi":"10.1155/2024/1299282","DOIUrl":"10.1155/2024/1299282","url":null,"abstract":"<p><strong>Background: </strong>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. <i>Case Presentation</i>. 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"1299282"},"PeriodicalIF":0.9,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11090674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916014","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
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
Case Reports in Neurological Medicine Pub Date : 2024-04-30 eCollection Date: 2024-01-01 DOI: 10.1155/2024/4767647
Sakari Kaasalainen, Harri Arikka, Mika H Martikainen, Valtteri Kaasinen
{"title":"Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.","authors":"Sakari Kaasalainen, Harri Arikka, Mika H Martikainen, Valtteri Kaasinen","doi":"10.1155/2024/4767647","DOIUrl":"10.1155/2024/4767647","url":null,"abstract":"<p><p>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 (<i>SLC18A2</i>). 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 <i>SLC18A2</i> 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.(Val370Serfs<sup><i>∗</i></sup>91) in the <i>SLC18A2</i> 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 <i>SLC18A2.</i> 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.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2024 ","pages":"4767647"},"PeriodicalIF":0.9,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11074866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140875941","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
A Case of Symptomatic Intraluminal Internal Carotid Artery Thrombus in a Patient with Essential Thrombocythemia Surgically Treated by CEA. 原发性血小板增多症患者经CEA手术治疗并发腔内症状性颈内动脉血栓1例。
IF 0.9
Case Reports in Neurological Medicine Pub Date : 2023-11-24 eCollection Date: 2023-01-01 DOI: 10.1155/2023/9152009
Satoshi Takahashi, Masahiro Katsumata, Hirotsugu Nogawa, Kento Takahara, Jin Nakahara, Masahiro Toda
{"title":"A Case of Symptomatic Intraluminal Internal Carotid Artery Thrombus in a Patient with Essential Thrombocythemia Surgically Treated by CEA.","authors":"Satoshi Takahashi, Masahiro Katsumata, Hirotsugu Nogawa, Kento Takahara, Jin Nakahara, Masahiro Toda","doi":"10.1155/2023/9152009","DOIUrl":"10.1155/2023/9152009","url":null,"abstract":"<p><p>We report a patient with a symptomatic intraluminal internal carotid artery thrombus clinically revealed by cerebral infarction. In the preoperative evaluation, it was revealed that essential thrombocythemia existed in the background. Therefore, medical treatment with antithrombotic agents in conjunction with hydroxycarbamide for essential thrombocythemia was initiated, but the thrombus was not dissolved by three weeks. At this time, the patient underwent carotid endarterectomy, which removed the thrombus completely with its adjacent plaque without any perioperative stroke. The possibility of essential thrombocythemia may also be kept in mind when an increased platelet count is observed in patients with internal carotid artery thrombus. It is a reasonable option to precede medical treatment, including anticoagulant therapy, by setting the time limit for surgical intervention in such a disease state.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2023 ","pages":"9152009"},"PeriodicalIF":0.9,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138476843","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
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