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.
{"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}
Pub Date : 2024-07-15eCollection Date: 2024-01-01DOI: 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。
{"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}
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.
{"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}
Pub Date : 2024-06-14eCollection Date: 2024-01-01DOI: 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.
{"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}
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.
{"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}
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.
{"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}
Pub Date : 2024-04-30eCollection Date: 2024-01-01DOI: 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.(Val370Serfs∗91) 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.
{"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}
Pub Date : 2023-11-24eCollection Date: 2023-01-01DOI: 10.1155/2023/9152009
Satoshi Takahashi, Masahiro Katsumata, Hirotsugu Nogawa, Kento Takahara, Jin Nakahara, Masahiro Toda
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.
{"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}
Pub Date : 2023-11-18eCollection Date: 2023-01-01DOI: 10.1155/2023/9921985
Issa Ibrahim Assoumane, Nicaise Kpègnon Agada, Rabiou Maman Sani, Aminath Kélani
Background: A penetrating head injury (PHI) refers to a situation where a projectile has breached the cranium but does not exit it. It constitutes about 0.4% of all head injuries. Several nonmissile materials inserting the skull have been reported. But to our knowledge, never before has any case of PHI caused by a hit of rake been reported. We report a first case of PHI caused by a rake in a child; then, we relate our experience with its management and discuss the relevant literature. Cases Description. A 5-year-old boy has been admitted with a rake embedded in his head. That occurred during a violent play with a neighbor. At presentation, the child was alert; there was no neurological deficit. The rake was embedded in the parietal regions on each side of the midline. The head Computed Tomography (CT) scan performed showed a biparietal hyperdensity from either side of the midline with a metal artifact. In the operating room, after a transversal incision joining the 2 tips of the object, we performed successively bone flaps; object extraction; debridement; duraplasty; and closing. The outcome was uneventful.
Conclusion: This is the first case of PHI by a rake. The surgical management constitutes the main challenging point.
{"title":"Penetrating Head Injury by a Hit of Rake in a Child: A Case Report and Literature Review.","authors":"Issa Ibrahim Assoumane, Nicaise Kpègnon Agada, Rabiou Maman Sani, Aminath Kélani","doi":"10.1155/2023/9921985","DOIUrl":"https://doi.org/10.1155/2023/9921985","url":null,"abstract":"<p><strong>Background: </strong>A penetrating head injury (PHI) refers to a situation where a projectile has breached the cranium but does not exit it. It constitutes about 0.4% of all head injuries. Several nonmissile materials inserting the skull have been reported. But to our knowledge, never before has any case of PHI caused by a hit of rake been reported. We report a first case of PHI caused by a rake in a child; then, we relate our experience with its management and discuss the relevant literature. <i>Cases Description</i>. A 5-year-old boy has been admitted with a rake embedded in his head. That occurred during a violent play with a neighbor. At presentation, the child was alert; there was no neurological deficit. The rake was embedded in the parietal regions on each side of the midline. The head Computed Tomography (CT) scan performed showed a biparietal hyperdensity from either side of the midline with a metal artifact. In the operating room, after a transversal incision joining the 2 tips of the object, we performed successively bone flaps; object extraction; debridement; duraplasty; and closing. The outcome was uneventful.</p><p><strong>Conclusion: </strong>This is the first case of PHI by a rake. The surgical management constitutes the main challenging point.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2023 ","pages":"9921985"},"PeriodicalIF":0.9,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10676273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458121","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}
We report a very rare case of referred pain caused by greater occipital nerve (GON) entrapment, inducing spontaneous pain in the whole body as well as in the trigeminal nerve region of the face and head. It has already been reported that entrapment of the GON can induce referred pain in the ipsilateral limb as well as the ipsilateral hemiface. A 42-year-old female patient presented with chronic pain in her gums, jaw angle, submandibular region, retro-auricular suboccipital, and temporo-occipital vertex that had been ongoing for four years. As the patient’s head pain and facial pain became severe, severe spontaneous pain occurred in the arm, waist, and both lower extremities. This patient’s pain in the occipital and neck, spontaneous pain in the face, jaw, and whole body improved with decompression of the GON. Anatomical basis of pain referral to the facial trigeminal area caused by chronic GON entrapment is convergence of nociceptive inflow from high cervical C1–C3 structures and trigeminal orofacial area in the dorsal horn of the cervical spinal cord from the C2 segment up to the medullary dorsal horn (MDH). The major afferent contribution among the suboccipital and high cervical structure is mediated by spinal root C2 that is peripherally represented by the GON. Chronic noxious input from GON entrapment can cause sensitization and hypersensitivity in second order neurons in the trigeminocervical complex (TCC) and MDH in the caudal trigeminal nucleus and high cervical cord. Generalized extension of referred pain due to GON entrapment is thought to involve two possible pathophysiologies. One is the possibility that generalized pain is caused by sensitization of third-order nociceptive neurons in the thalamus. Another speculation is that spontaneous pain may occur throughout the body due to dysfunction of the descending brain stem pain-modulating pathway by sensitization and hyperexcitation of the MDH and trigeminal brainstem sensory nuclear complex (TBSNC).
{"title":"Generalized Extension of Referred Trigeminal Pain due to Greater Occipital Nerve Entrapment","authors":"Jung-woo Hyung, Byung-chul Son","doi":"10.1155/2023/1099222","DOIUrl":"https://doi.org/10.1155/2023/1099222","url":null,"abstract":"We report a very rare case of referred pain caused by greater occipital nerve (GON) entrapment, inducing spontaneous pain in the whole body as well as in the trigeminal nerve region of the face and head. It has already been reported that entrapment of the GON can induce referred pain in the ipsilateral limb as well as the ipsilateral hemiface. A 42-year-old female patient presented with chronic pain in her gums, jaw angle, submandibular region, retro-auricular suboccipital, and temporo-occipital vertex that had been ongoing for four years. As the patient’s head pain and facial pain became severe, severe spontaneous pain occurred in the arm, waist, and both lower extremities. This patient’s pain in the occipital and neck, spontaneous pain in the face, jaw, and whole body improved with decompression of the GON. Anatomical basis of pain referral to the facial trigeminal area caused by chronic GON entrapment is convergence of nociceptive inflow from high cervical C1–C3 structures and trigeminal orofacial area in the dorsal horn of the cervical spinal cord from the C2 segment up to the medullary dorsal horn (MDH). The major afferent contribution among the suboccipital and high cervical structure is mediated by spinal root C2 that is peripherally represented by the GON. Chronic noxious input from GON entrapment can cause sensitization and hypersensitivity in second order neurons in the trigeminocervical complex (TCC) and MDH in the caudal trigeminal nucleus and high cervical cord. Generalized extension of referred pain due to GON entrapment is thought to involve two possible pathophysiologies. One is the possibility that generalized pain is caused by sensitization of third-order nociceptive neurons in the thalamus. Another speculation is that spontaneous pain may occur throughout the body due to dysfunction of the descending brain stem pain-modulating pathway by sensitization and hyperexcitation of the MDH and trigeminal brainstem sensory nuclear complex (TBSNC).","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"41 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135041972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}