Yi-Seul Choo, Ga Eun Koo, Yu-Jin Kang, Dongwook Kang, Young Jun Ko, Ji Young Park, Chan-Young Park, Su-Hyun Han
Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge. Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.
{"title":"Hyperammonemic Encephalopathy Caused by the c.386+5G>A Mutation in OTC Gene in a Young Adult Woman","authors":"Yi-Seul Choo, Ga Eun Koo, Yu-Jin Kang, Dongwook Kang, Young Jun Ko, Ji Young Park, Chan-Young Park, Su-Hyun Han","doi":"10.17340/jkna.2023.0075","DOIUrl":"https://doi.org/10.17340/jkna.2023.0075","url":null,"abstract":"Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge. Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"170 S366","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139812859","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}
Background: The goal of this study was to investigate the incidence and type of seizurerelated injuries (SRIs) in patients presenting with seizures to the emergency department (ED) and to determine the risk factors of SRIs.Methods: In this retrospective cross-sectional study, we surveyed all seizure patients aged 18 years and older who visited the ED of Yeungnam University Hospital between October 2017 and September 2019. We excluded patients who developed seizures secondary to cardiac arrest or acute head trauma.Results: A total of 165 patients were enrolled and SRIs occurred in 33 patients (20.0%). The most common SRI was head injury (35.3%), followed by soft tissue injury (29.4%) and orolingual injury (17.6%). Most injuries were single, minor injury and required little or no treatment. Death occurred in one patient (3.0%) with SRIs due to intracranial hemorrhage. On univariate analysis, young age (p<0.001), history of alcohol use disorder (p=0.005), hypertension (p=0.022) and stroke (p=0.032), falling during seizure (p<0.001), seizure cluster (p=0.001), convulsive status epilepticus (p=0.034), generalized tonic-clonic seizure (p=0.010), initial blood ammonia level (p=0.007), and alcohol-related seizure (p=0.032) predicted the occurrence of SRIs. All patients with SRIs were independent in daily activities. On multiple logistic regression analysis, five variables remained significant: young age (p=0.037), history of alcohol use disorder (p=0.040), falling during seizure (p<0.001), seizure cluster (p=0.013), and convulsive status epilepticus (p=0.032).Conclusions: Young age, history of alcohol use disorder, falling during seizure, seizure cluster, and convulsive status epilepticus predicted SRIs in people presenting with seizure.
背景：本研究旨在调查急诊科（ED）癫痫发作患者中癫痫发作相关损伤（SRIs）的发生率和类型，并确定SRIs的风险因素：在这项回顾性横断面研究中，我们调查了2017年10月至2019年9月期间在岭南大学附属医院急诊科就诊的所有18岁及以上癫痫发作患者。我们排除了因心脏骤停或急性头部外伤而继发癫痫发作的患者：共有 165 名患者入选，33 名患者（20.0%）发生了 SRI。最常见的 SRI 是头部损伤（35.3%），其次是软组织损伤（29.4%）和舌骨损伤（17.6%）。大多数损伤为单次轻微损伤，几乎不需要治疗。一名 SRI 患者（3.0%）因颅内出血而死亡。单变量分析显示，年轻（p<0.001）、酒精使用障碍（p=0.005）、高血压（p=0.022）和中风（p=0.032）病史、癫痫发作时跌倒（p<0.001）、癫痫发作群集（p=0.001）、惊厥性癫痫状态（p=0.034）、全身强直-阵挛发作（p=0.010）、初始血氨水平（p=0.007）和酒精相关性发作（p=0.032）可预测 SRI 的发生。所有 SRI 患者均能独立进行日常活动。在多元逻辑回归分析中，有五个变量仍具有显著性：年轻（p=0.037）、酒精使用障碍史（p=0.040）、发作时跌倒（p<0.001）、发作群（p=0.013）和抽搐性癫痫状态（p=0.032）：结论：年轻、酒精使用障碍史、癫痫发作时跌倒、癫痫发作群集和惊厥性癫痫状态可预测癫痫发作患者的 SRI。
{"title":"Characteristics and Risk Factors of Seizure-related Injuries in Patients Presenting with Seizures to the Emergency Room","authors":"Jae Gun Park, Se-Jin Lee","doi":"10.17340/jkna.2023.0096","DOIUrl":"https://doi.org/10.17340/jkna.2023.0096","url":null,"abstract":"Background: The goal of this study was to investigate the incidence and type of seizurerelated injuries (SRIs) in patients presenting with seizures to the emergency department (ED) and to determine the risk factors of SRIs.Methods: In this retrospective cross-sectional study, we surveyed all seizure patients aged 18 years and older who visited the ED of Yeungnam University Hospital between October 2017 and September 2019. We excluded patients who developed seizures secondary to cardiac arrest or acute head trauma.Results: A total of 165 patients were enrolled and SRIs occurred in 33 patients (20.0%). The most common SRI was head injury (35.3%), followed by soft tissue injury (29.4%) and orolingual injury (17.6%). Most injuries were single, minor injury and required little or no treatment. Death occurred in one patient (3.0%) with SRIs due to intracranial hemorrhage. On univariate analysis, young age (p<0.001), history of alcohol use disorder (p=0.005), hypertension (p=0.022) and stroke (p=0.032), falling during seizure (p<0.001), seizure cluster (p=0.001), convulsive status epilepticus (p=0.034), generalized tonic-clonic seizure (p=0.010), initial blood ammonia level (p=0.007), and alcohol-related seizure (p=0.032) predicted the occurrence of SRIs. All patients with SRIs were independent in daily activities. On multiple logistic regression analysis, five variables remained significant: young age (p=0.037), history of alcohol use disorder (p=0.040), falling during seizure (p<0.001), seizure cluster (p=0.013), and convulsive status epilepticus (p=0.032).Conclusions: Young age, history of alcohol use disorder, falling during seizure, seizure cluster, and convulsive status epilepticus predicted SRIs in people presenting with seizure.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"287 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139830947","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}
{"title":"Giant Brainstem Arteriovenous Malformation with Spiral Venous Ectasia","authors":"Jusuck Lee, Yoonha Hwang, Sang-Mi Noh","doi":"10.17340/jkna.2023.0056","DOIUrl":"https://doi.org/10.17340/jkna.2023.0056","url":null,"abstract":"","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"6 5-6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139880393","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}
Background: The goal of this study was to investigate the incidence and type of seizurerelated injuries (SRIs) in patients presenting with seizures to the emergency department (ED) and to determine the risk factors of SRIs.Methods: In this retrospective cross-sectional study, we surveyed all seizure patients aged 18 years and older who visited the ED of Yeungnam University Hospital between October 2017 and September 2019. We excluded patients who developed seizures secondary to cardiac arrest or acute head trauma.Results: A total of 165 patients were enrolled and SRIs occurred in 33 patients (20.0%). The most common SRI was head injury (35.3%), followed by soft tissue injury (29.4%) and orolingual injury (17.6%). Most injuries were single, minor injury and required little or no treatment. Death occurred in one patient (3.0%) with SRIs due to intracranial hemorrhage. On univariate analysis, young age (p<0.001), history of alcohol use disorder (p=0.005), hypertension (p=0.022) and stroke (p=0.032), falling during seizure (p<0.001), seizure cluster (p=0.001), convulsive status epilepticus (p=0.034), generalized tonic-clonic seizure (p=0.010), initial blood ammonia level (p=0.007), and alcohol-related seizure (p=0.032) predicted the occurrence of SRIs. All patients with SRIs were independent in daily activities. On multiple logistic regression analysis, five variables remained significant: young age (p=0.037), history of alcohol use disorder (p=0.040), falling during seizure (p<0.001), seizure cluster (p=0.013), and convulsive status epilepticus (p=0.032).Conclusions: Young age, history of alcohol use disorder, falling during seizure, seizure cluster, and convulsive status epilepticus predicted SRIs in people presenting with seizure.
背景：本研究旨在调查急诊科（ED）癫痫发作患者中癫痫发作相关损伤（SRIs）的发生率和类型，并确定SRIs的风险因素：在这项回顾性横断面研究中，我们调查了2017年10月至2019年9月期间在岭南大学附属医院急诊科就诊的所有18岁及以上癫痫发作患者。我们排除了因心脏骤停或急性头部外伤而继发癫痫发作的患者：共有 165 名患者入选，33 名患者（20.0%）发生了 SRI。最常见的 SRI 是头部损伤（35.3%），其次是软组织损伤（29.4%）和舌骨损伤（17.6%）。大多数损伤为单次轻微损伤，几乎不需要治疗。一名 SRI 患者（3.0%）因颅内出血而死亡。单变量分析显示，年轻（p<0.001）、酒精使用障碍（p=0.005）、高血压（p=0.022）和中风（p=0.032）病史、癫痫发作时跌倒（p<0.001）、癫痫发作群集（p=0.001）、惊厥性癫痫状态（p=0.034）、全身强直-阵挛发作（p=0.010）、初始血氨水平（p=0.007）和酒精相关性发作（p=0.032）可预测 SRI 的发生。所有 SRI 患者均能独立进行日常活动。在多元逻辑回归分析中，有五个变量仍具有显著性：年轻（p=0.037）、酒精使用障碍史（p=0.040）、发作时跌倒（p<0.001）、发作群（p=0.013）和抽搐性癫痫状态（p=0.032）：结论：年轻、酒精使用障碍史、癫痫发作时跌倒、癫痫发作群集和惊厥性癫痫状态可预测癫痫发作患者的 SRI。
{"title":"Characteristics and Risk Factors of Seizure-related Injuries in Patients Presenting with Seizures to the Emergency Room","authors":"Jae Gun Park, Se-Jin Lee","doi":"10.17340/jkna.2023.0096","DOIUrl":"https://doi.org/10.17340/jkna.2023.0096","url":null,"abstract":"Background: The goal of this study was to investigate the incidence and type of seizurerelated injuries (SRIs) in patients presenting with seizures to the emergency department (ED) and to determine the risk factors of SRIs.Methods: In this retrospective cross-sectional study, we surveyed all seizure patients aged 18 years and older who visited the ED of Yeungnam University Hospital between October 2017 and September 2019. We excluded patients who developed seizures secondary to cardiac arrest or acute head trauma.Results: A total of 165 patients were enrolled and SRIs occurred in 33 patients (20.0%). The most common SRI was head injury (35.3%), followed by soft tissue injury (29.4%) and orolingual injury (17.6%). Most injuries were single, minor injury and required little or no treatment. Death occurred in one patient (3.0%) with SRIs due to intracranial hemorrhage. On univariate analysis, young age (p<0.001), history of alcohol use disorder (p=0.005), hypertension (p=0.022) and stroke (p=0.032), falling during seizure (p<0.001), seizure cluster (p=0.001), convulsive status epilepticus (p=0.034), generalized tonic-clonic seizure (p=0.010), initial blood ammonia level (p=0.007), and alcohol-related seizure (p=0.032) predicted the occurrence of SRIs. All patients with SRIs were independent in daily activities. On multiple logistic regression analysis, five variables remained significant: young age (p=0.037), history of alcohol use disorder (p=0.040), falling during seizure (p<0.001), seizure cluster (p=0.013), and convulsive status epilepticus (p=0.032).Conclusions: Young age, history of alcohol use disorder, falling during seizure, seizure cluster, and convulsive status epilepticus predicted SRIs in people presenting with seizure.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139890717","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}
{"title":"Two Patients Presenting with Resting Tremor in Upper Limbs","authors":"Su Jin Chung","doi":"10.17340/jkna.2023.0082","DOIUrl":"https://doi.org/10.17340/jkna.2023.0082","url":null,"abstract":"","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"324 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139877113","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}
Byung Kook Jeong, Joo Yeon Lee, Woo-Hyun Son, Sang-Jun Na
Hyperglycemic state frequently presents with neurologic manifestations including choreoathetosis, ballismus, dysphagia, seizures, and coma. Also, hyperglycemic hemianopia has been rarely reported to cause temporary damage to the visual cortex, resulting in homonymous hemianopia. A 65-year-old man was admitted because of right homonymous hemianopia accompanied by hyperglycemia. Brain single-photon emission computed tomography showed focal hyperperfusion in the left occipital lobe. Herein we report a case of reversible homonymous hemianopia with cerebral hyperperfusion associated hyperglycemia without seizure.
{"title":"Reversible Homonymous Hemianopia Associated with Focal Hyperperfusion in Hyperglycemic State","authors":"Byung Kook Jeong, Joo Yeon Lee, Woo-Hyun Son, Sang-Jun Na","doi":"10.17340/jkna.2023.0079","DOIUrl":"https://doi.org/10.17340/jkna.2023.0079","url":null,"abstract":"Hyperglycemic state frequently presents with neurologic manifestations including choreoathetosis, ballismus, dysphagia, seizures, and coma. Also, hyperglycemic hemianopia has been rarely reported to cause temporary damage to the visual cortex, resulting in homonymous hemianopia. A 65-year-old man was admitted because of right homonymous hemianopia accompanied by hyperglycemia. Brain single-photon emission computed tomography showed focal hyperperfusion in the left occipital lobe. Herein we report a case of reversible homonymous hemianopia with cerebral hyperperfusion associated hyperglycemia without seizure.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"28 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883766","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}
A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.
一名 38 岁的男性被诊断患有脊髓性肌萎缩症（SMA）3a 型，之前曾被误诊为肌肉萎缩症。在获得医疗保险服务机构的批准后，他开始接受努西那生治疗。在鞘内注射奴西能生时收集了脑脊液（CSF）。我们使用单分子阵列测量了神经丝蛋白轻链（NfL）水平，作为疗效生物标志物。完成负荷剂量后，CSF NfL水平明显下降。我们的病例表明，从现实世界的证据来看，作为一种生物标志物，奴西那生对成人 SMA 患者同样有效。
{"title":"A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence","authors":"Pan-Woo Ko, Jong-Mok Lee","doi":"10.17340/jkna.2023.0049","DOIUrl":"https://doi.org/10.17340/jkna.2023.0049","url":null,"abstract":"A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"17 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139890041","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}
Byung Kook Jeong, Joo Yeon Lee, Woo-Hyun Son, Sang-Jun Na
Hyperglycemic state frequently presents with neurologic manifestations including choreoathetosis, ballismus, dysphagia, seizures, and coma. Also, hyperglycemic hemianopia has been rarely reported to cause temporary damage to the visual cortex, resulting in homonymous hemianopia. A 65-year-old man was admitted because of right homonymous hemianopia accompanied by hyperglycemia. Brain single-photon emission computed tomography showed focal hyperperfusion in the left occipital lobe. Herein we report a case of reversible homonymous hemianopia with cerebral hyperperfusion associated hyperglycemia without seizure.
{"title":"Reversible Homonymous Hemianopia Associated with Focal Hyperperfusion in Hyperglycemic State","authors":"Byung Kook Jeong, Joo Yeon Lee, Woo-Hyun Son, Sang-Jun Na","doi":"10.17340/jkna.2023.0079","DOIUrl":"https://doi.org/10.17340/jkna.2023.0079","url":null,"abstract":"Hyperglycemic state frequently presents with neurologic manifestations including choreoathetosis, ballismus, dysphagia, seizures, and coma. Also, hyperglycemic hemianopia has been rarely reported to cause temporary damage to the visual cortex, resulting in homonymous hemianopia. A 65-year-old man was admitted because of right homonymous hemianopia accompanied by hyperglycemia. Brain single-photon emission computed tomography showed focal hyperperfusion in the left occipital lobe. Herein we report a case of reversible homonymous hemianopia with cerebral hyperperfusion associated hyperglycemia without seizure.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"64 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139823864","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}
Namyoung Kim, Jeungwan Han, Sang Jin Park, Yoon Shik Chun, Yohan Ju, Hyun-Jae Kim
Optic neuritis is a rare extraintestinal manifestation of inflammatory bowel disease. Antitumor necrosis factor alpha (anti-TNF-α) agents are essential treatment options in inflammatory bowel diseases. However, anti-TNF-α agents can implicate optic neuritis and other demyelinating diseases as complications of these agents. We report a patient of infliximab-induced optic neuritis in a patient with ulcerative colitis who was treated with high-dose steroids after discontinuation of infliximab.
{"title":"Optic Neuritis after Infliximab Treatment in a Patient with Ulcerative Colitis","authors":"Namyoung Kim, Jeungwan Han, Sang Jin Park, Yoon Shik Chun, Yohan Ju, Hyun-Jae Kim","doi":"10.17340/jkna.2023.0087","DOIUrl":"https://doi.org/10.17340/jkna.2023.0087","url":null,"abstract":"Optic neuritis is a rare extraintestinal manifestation of inflammatory bowel disease. Antitumor necrosis factor alpha (anti-TNF-α) agents are essential treatment options in inflammatory bowel diseases. However, anti-TNF-α agents can implicate optic neuritis and other demyelinating diseases as complications of these agents. We report a patient of infliximab-induced optic neuritis in a patient with ulcerative colitis who was treated with high-dose steroids after discontinuation of infliximab.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"57 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139823843","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}
Suin Lee, Jae Rim Kim, Young-Kyun Kim, Hyoeun Bae, Soo Ryun Park, Kyungmin Kim, Ki Hyun Kim, Jung Seok Lee, Dae-Won Seo
Paroxysmal kinesigenic dyskinesia (PKD) is a diagnostic term for transient, involuntary abnormal movements triggered by sudden motions. The treatment for PKD differs from other paroxysmal dyskinesias, as it notably responds well to sodium channel blockers. We report a case of atypical PKD, coupled with paroxysmal exercise-induced dyskinesia (PED). Both PKD and PED in this patient showed a good response to oxcarbazepine. This case could be clinical evidence that paroxysmal dyskinesias could potentially be regarded as a spectrum disorder with overlapping features.
{"title":"Atypical Paroxysmal Kinesigenic Dyskinesia with Paroxysmal Exercise-induced Dyskinesia","authors":"Suin Lee, Jae Rim Kim, Young-Kyun Kim, Hyoeun Bae, Soo Ryun Park, Kyungmin Kim, Ki Hyun Kim, Jung Seok Lee, Dae-Won Seo","doi":"10.17340/jkna.2023.0069","DOIUrl":"https://doi.org/10.17340/jkna.2023.0069","url":null,"abstract":"Paroxysmal kinesigenic dyskinesia (PKD) is a diagnostic term for transient, involuntary abnormal movements triggered by sudden motions. The treatment for PKD differs from other paroxysmal dyskinesias, as it notably responds well to sodium channel blockers. We report a case of atypical PKD, coupled with paroxysmal exercise-induced dyskinesia (PED). Both PKD and PED in this patient showed a good response to oxcarbazepine. This case could be clinical evidence that paroxysmal dyskinesias could potentially be regarded as a spectrum disorder with overlapping features.","PeriodicalId":437080,"journal":{"name":"Journal of the Korean Neurological Association","volume":"310 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139832094","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}
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