Abstract Background/Objectives Memory impairment (MI) and epilepsy go hand in hand, mainly in conditions of temporal lobe epilepsy (TLE). This disease comorbidity has been reported to worsen upon treatment. Hence this study aims to evaluate the extent of aggravating effect of phenytoin (PHT) at normal and reduced doses on MI associated with TLE and additionally assesses the protective effect of levetiracetam (LEV) on these adverse effects. Methods Swiss albino mice of either sex (n = 36) were used for this study in which seizures were induced by intraperitoneal administration of pilocarpine (300 mg/kg i.p.) followed by evaluation of antiepileptic activity by technique of Racine's scale for convulsive scores. Errors (a factor denoting MI) were assessed using radial arm maze. Finally brain biochemical measures of acetylcholinesterase and glutamate along with cresyl violet staining and estimation of total neuronal number of the hippocampus were performed. Results Exacerbation of MI by PHT was observed, where the extent of MI was found to be lesser in the reduced dose approach (PHTR: 28.50 ± 1.03; p ≤ 0.05). However, this tactic in dose reduction was interfered with the antiepileptic potential of the drug. Attenuation of MI upon combining with LEV, without an interference in the principal treatment, was observed equally in the behavioral and brain aspects of the study (PHTN + LEV: 1.33 ± 0.33 and PHTR + LEV: 1.00 ± 0.17; p ≤ 0.05). Conclusions The promising effects of LEV could thus aid in proposing a new management remedy for TLE to minimize the adverse effect associated with it.
{"title":"Memory Impairment Allied to Temporal Lobe Epilepsy and its Deterioration by Phenytoin: A Highlight on Ameliorative Effects of Levetiracetam in Mouse Model","authors":"A. Mohan, K. L. Krishna","doi":"10.1055/S-0038-1656714","DOIUrl":"https://doi.org/10.1055/S-0038-1656714","url":null,"abstract":"Abstract Background/Objectives Memory impairment (MI) and epilepsy go hand in hand, mainly in conditions of temporal lobe epilepsy (TLE). This disease comorbidity has been reported to worsen upon treatment. Hence this study aims to evaluate the extent of aggravating effect of phenytoin (PHT) at normal and reduced doses on MI associated with TLE and additionally assesses the protective effect of levetiracetam (LEV) on these adverse effects. Methods Swiss albino mice of either sex (n = 36) were used for this study in which seizures were induced by intraperitoneal administration of pilocarpine (300 mg/kg i.p.) followed by evaluation of antiepileptic activity by technique of Racine's scale for convulsive scores. Errors (a factor denoting MI) were assessed using radial arm maze. Finally brain biochemical measures of acetylcholinesterase and glutamate along with cresyl violet staining and estimation of total neuronal number of the hippocampus were performed. Results Exacerbation of MI by PHT was observed, where the extent of MI was found to be lesser in the reduced dose approach (PHTR: 28.50 ± 1.03; p ≤ 0.05). However, this tactic in dose reduction was interfered with the antiepileptic potential of the drug. Attenuation of MI upon combining with LEV, without an interference in the principal treatment, was observed equally in the behavioral and brain aspects of the study (PHTN + LEV: 1.33 ± 0.33 and PHTR + LEV: 1.00 ± 0.17; p ≤ 0.05). Conclusions The promising effects of LEV could thus aid in proposing a new management remedy for TLE to minimize the adverse effect associated with it.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/S-0038-1656714","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46410942","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}
H. Jaseja, J. P. Verma, M. Mehndiratta, A. K. Govila, Jyoti Tiwari, Sandeep Gupta, V. K. Grover, P. Kumari, Gajendra Parashar, Neeraj Bansal
Abstract Background and Objective A survey on general awareness toward epilepsy was conducted on a cohort of female and male medical and paramedical students that represent a model educated section of the society. It is, therefore, imperative that this section of the society acquires correct knowledge about epilepsy. Materials and Methods The subjects were undergraduate students from medical and paramedical institutes in Gwalior region who were gathered to celebrate the National Epilepsy Day on November 17, 2016. A self-administered questionnaire of 50 questions on general awareness about epilepsy was completed at the very beginning before the celebrations. The results were subjected to various statistical analyses. Results A total of 251 respondents (149 females and 102 males) in the age group of 17 to 31 years participated in the survey. All the respondents had heard about epilepsy. One-hundred fifty-eight participants were from medical and dental institutes, whereas 93 participants were from paramedical institutes. In general, the female participants exhibited significantly greater general knowledge about epilepsy in comparison to the male respondents. Conclusion The results indicate a favorable degree of awareness about epilepsy. A definite knowledge gap was observed between the medical and paramedical students. However, the awareness still needs to be enhanced even among students pursuing medical and paramedical courses through various programs apart from their academic curriculum, as a certain degree of misconceptions and superstitious beliefs associated with epilepsy continues to prevail even in this educated section of the society.
{"title":"General Awareness about Epilepsy in a Cohort of Female and Male Students: A Statistical Comparison","authors":"H. Jaseja, J. P. Verma, M. Mehndiratta, A. K. Govila, Jyoti Tiwari, Sandeep Gupta, V. K. Grover, P. Kumari, Gajendra Parashar, Neeraj Bansal","doi":"10.1055/s-0038-1636946","DOIUrl":"https://doi.org/10.1055/s-0038-1636946","url":null,"abstract":"Abstract Background and Objective A survey on general awareness toward epilepsy was conducted on a cohort of female and male medical and paramedical students that represent a model educated section of the society. It is, therefore, imperative that this section of the society acquires correct knowledge about epilepsy. Materials and Methods The subjects were undergraduate students from medical and paramedical institutes in Gwalior region who were gathered to celebrate the National Epilepsy Day on November 17, 2016. A self-administered questionnaire of 50 questions on general awareness about epilepsy was completed at the very beginning before the celebrations. The results were subjected to various statistical analyses. Results A total of 251 respondents (149 females and 102 males) in the age group of 17 to 31 years participated in the survey. All the respondents had heard about epilepsy. One-hundred fifty-eight participants were from medical and dental institutes, whereas 93 participants were from paramedical institutes. In general, the female participants exhibited significantly greater general knowledge about epilepsy in comparison to the male respondents. Conclusion The results indicate a favorable degree of awareness about epilepsy. A definite knowledge gap was observed between the medical and paramedical students. However, the awareness still needs to be enhanced even among students pursuing medical and paramedical courses through various programs apart from their academic curriculum, as a certain degree of misconceptions and superstitious beliefs associated with epilepsy continues to prevail even in this educated section of the society.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0038-1636946","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46528331","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}
Abstract Antiepileptic therapy is associated with various hematologic disorders. Pure red cell aplasia (PRCA) is a rare disease that may be congenital or acquired. Severe normocytic anemia, reticulocytopenia, and absence of erythroblasts from an otherwise normal bone marrow should raise the suspicion of PRCA. A 32-year-old unmarried woman was admitted with fatigue for 4 months. She had been on carbamazepine therapy for 4 years (200 mg twice daily) for seizure disorder. On evaluation, she was diagnosed to have PRCA secondary to carbamazepine. We describe a patient with carbamazepine-induced PRCA that improved after discontinuation of the drug.
{"title":"Carbamazepine-Induced Pure Red Cell Aplasia","authors":"C. Mansoor, L. Priya","doi":"10.1055/S-0038-1657851","DOIUrl":"https://doi.org/10.1055/S-0038-1657851","url":null,"abstract":"Abstract Antiepileptic therapy is associated with various hematologic disorders. Pure red cell aplasia (PRCA) is a rare disease that may be congenital or acquired. Severe normocytic anemia, reticulocytopenia, and absence of erythroblasts from an otherwise normal bone marrow should raise the suspicion of PRCA. A 32-year-old unmarried woman was admitted with fatigue for 4 months. She had been on carbamazepine therapy for 4 years (200 mg twice daily) for seizure disorder. On evaluation, she was diagnosed to have PRCA secondary to carbamazepine. We describe a patient with carbamazepine-induced PRCA that improved after discontinuation of the drug.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/S-0038-1657851","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49233881","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}
In recent decades, the high incidence of psychogenic nonepileptic seizures (PNES) coming out of epilepsy monitoring clinics implicates the practice of relying on video electroencephalogram (vEEG) test results. Psychogenic nonepileptic seizures are paroxysmal episodes that resemble epileptic seizures (ES) but do not show epileptiform discharges on the ictal vEEG, and thus are presumed to be hysterical, or psychological, in origin. Abstract
{"title":"A Proposed Etiology of Psychogenic Nonepileptic Seizures","authors":"C. A. Carlson","doi":"10.1055/S-0038-1667413","DOIUrl":"https://doi.org/10.1055/S-0038-1667413","url":null,"abstract":"In recent decades, the high incidence of psychogenic nonepileptic seizures (PNES) coming out of epilepsy monitoring clinics implicates the practice of relying on video electroencephalogram (vEEG) test results. Psychogenic nonepileptic seizures are paroxysmal episodes that resemble epileptic seizures (ES) but do not show epileptiform discharges on the ictal vEEG, and thus are presumed to be hysterical, or psychological, in origin. Abstract","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/S-0038-1667413","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47153042","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}
I. Braun, M. Schwarz, K. Walther, M. Stemmler, B. Kasper, H. Hamer
Abstract Purpose This study addresses specific impairments of cognitive estimation and object naming in patients with focal temporal lobe epilepsy (TLE) and frontal lobe epilepsy (FLE). It was investigated whether selective impairments can be explained by differences in lesion localization and functional hemispheric specialization. Materials and Methods Seventy-eight patients (39 females, 39 males) with FLE and TLE were investigated using the German “Test zum Kognitiven Schätzen” and the “Boston Naming Test” to assess cognitive estimation abilities and visual object naming. Questions According to theoretical models that support a distinct hemispheric dominance for estimation and naming, it was expected that epilepsy localization in the right hemisphere would result in impairments of cognitive estimation, whereas patients with left epileptogenic foci would show deficits in object naming. Results In comparison to a healthy control group, a significant impairment in estimation performance was present in patients with right temporal mesial and right frontal epilepsy. A significant impairment of naming performance was found in patients with left temporal mesial, right temporal mesial, left temporal neocortical, and left frontal epilepsy. Overall, localization-dependent deficits were detected in patients with hippocampal sclerosis (cognitive estimation and object naming), right frontal epilepsy (cognitive estimation), and left temporal neocortical/left frontal epilepsy (object naming). In patients with right temporal neocortical epilepsy, no functional deficits were found. Conclusion It is hypothesized that there is a functional dissociation between cognitive estimation processes and object naming due to different functional specialization of the left and right hemispheres, respectively.
摘要目的研究局灶性颞叶癫痫(TLE)和额叶癫痫(FLE)患者的认知估计和物体命名障碍。研究了选择性损伤是否可以用病变定位和功能半球特化的差异来解释。材料与方法采用德国“Test zum Kognitiven Schätzen”和“Boston Naming Test”对78例FLE和TLE患者(男39名，女39名)的认知估计能力和视觉物体命名能力进行评估。根据理论模型，支持一个明显的半球主导的估计和命名，预计癫痫定位在右半球会导致认知估计的障碍，而左侧癫痫灶的患者会表现出物体命名的缺陷。结果与正常对照组相比，右颞内侧和右额叶癫痫患者的估计能力明显下降。左颞中膜癫痫、右颞中膜癫痫、左颞新皮质癫痫和左额叶癫痫患者的命名功能明显受损。总体而言，在海马硬化症(认知估计和物体命名)、右侧额叶癫痫(认知估计)和左侧颞叶新皮质/左侧额叶癫痫(物体命名)患者中检测到定位依赖性缺陷。右侧颞叶新皮质癫痫患者未发现功能缺陷。结论假设认知估计过程与物体命名过程之间存在功能分离，这可能是由于左右脑的功能分工不同造成的。
{"title":"Functional Dissociation between Cognitive Estimation and Object Naming in Focal Temporal and Frontal Lobe Epilepsies","authors":"I. Braun, M. Schwarz, K. Walther, M. Stemmler, B. Kasper, H. Hamer","doi":"10.1055/s-0038-1667412","DOIUrl":"https://doi.org/10.1055/s-0038-1667412","url":null,"abstract":"Abstract Purpose This study addresses specific impairments of cognitive estimation and object naming in patients with focal temporal lobe epilepsy (TLE) and frontal lobe epilepsy (FLE). It was investigated whether selective impairments can be explained by differences in lesion localization and functional hemispheric specialization. Materials and Methods Seventy-eight patients (39 females, 39 males) with FLE and TLE were investigated using the German “Test zum Kognitiven Schätzen” and the “Boston Naming Test” to assess cognitive estimation abilities and visual object naming. Questions According to theoretical models that support a distinct hemispheric dominance for estimation and naming, it was expected that epilepsy localization in the right hemisphere would result in impairments of cognitive estimation, whereas patients with left epileptogenic foci would show deficits in object naming. Results In comparison to a healthy control group, a significant impairment in estimation performance was present in patients with right temporal mesial and right frontal epilepsy. A significant impairment of naming performance was found in patients with left temporal mesial, right temporal mesial, left temporal neocortical, and left frontal epilepsy. Overall, localization-dependent deficits were detected in patients with hippocampal sclerosis (cognitive estimation and object naming), right frontal epilepsy (cognitive estimation), and left temporal neocortical/left frontal epilepsy (object naming). In patients with right temporal neocortical epilepsy, no functional deficits were found. Conclusion It is hypothesized that there is a functional dissociation between cognitive estimation processes and object naming due to different functional specialization of the left and right hemispheres, respectively.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0038-1667412","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42061041","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}
Abstract Background Pediatric epilepsy is associated with various comorbidities. It is known that children with epilepsy have a compromised health-related quality of life (QOL) and may be affected across physical, psychological, social, and educational domains. Aims and Objectives (1) To study QOL in children with epilepsy from private and public outpatient departments, (2) study various risk factors affecting QOL, and (3) compare risk factors between groups. Methods Sample consisted of 400 and 201 children aged 5 to 18 years from private and public settings with epilepsy taking antiepileptic drugs (AEDs) for at least 6 months. Structured case record form was used to collect data on sociodemographic, clinical, and treatment parameters. QOL was measured by the Pediatric Quality of Life Inventory (PedsQL) questionnaire (in the local language). Adverse effects were monitored by Pediatric Epilepsy Side Effects Questionnaire (PESQ). Univariate regression analysis was performed on the data (p < 0.005). Results Overall PedsQL score was 67.21 ± 29.391 and 78.66 ± 9.161 in private and public settings, respectively (p = 0.000). QOL was affected significantly by age of the child, educational and economic background of the caregivers, age at the onset of epilepsy, seizure frequency, duration of treatment, number of drugs, presence of comorbidities, intelligence quotient (IQ) levels of children, and PESQ score in both the groups. Total PESQ score was 18.63 ± 17.02 and 7.69 ± 10.646 in private and public settings, respectively (p = 0.000). Conclusions Children with epilepsy have a compromised QOL. Risk factors relating to QOL are numerous. Educational and economic status of caregivers plays a significant role in awareness of the problem.
{"title":"Quality of Life in Children with Epilepsy in Private and Public Tertiary Care Centers in India","authors":"P. Karnavat, A. Hegde, Shilpa D. Kulkarni","doi":"10.1055/s-0038-1660774","DOIUrl":"https://doi.org/10.1055/s-0038-1660774","url":null,"abstract":"Abstract Background Pediatric epilepsy is associated with various comorbidities. It is known that children with epilepsy have a compromised health-related quality of life (QOL) and may be affected across physical, psychological, social, and educational domains. Aims and Objectives (1) To study QOL in children with epilepsy from private and public outpatient departments, (2) study various risk factors affecting QOL, and (3) compare risk factors between groups. Methods Sample consisted of 400 and 201 children aged 5 to 18 years from private and public settings with epilepsy taking antiepileptic drugs (AEDs) for at least 6 months. Structured case record form was used to collect data on sociodemographic, clinical, and treatment parameters. QOL was measured by the Pediatric Quality of Life Inventory (PedsQL) questionnaire (in the local language). Adverse effects were monitored by Pediatric Epilepsy Side Effects Questionnaire (PESQ). Univariate regression analysis was performed on the data (p < 0.005). Results Overall PedsQL score was 67.21 ± 29.391 and 78.66 ± 9.161 in private and public settings, respectively (p = 0.000). QOL was affected significantly by age of the child, educational and economic background of the caregivers, age at the onset of epilepsy, seizure frequency, duration of treatment, number of drugs, presence of comorbidities, intelligence quotient (IQ) levels of children, and PESQ score in both the groups. Total PESQ score was 18.63 ± 17.02 and 7.69 ± 10.646 in private and public settings, respectively (p = 0.000). Conclusions Children with epilepsy have a compromised QOL. Risk factors relating to QOL are numerous. Educational and economic status of caregivers plays a significant role in awareness of the problem.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0038-1660774","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43797024","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}
Kalpesh Sanariya, Arun Garg, Aniruddha More, A. Bansal
Abstract Benign epileptiform variants (BEVs) are often noted in routine electroencephalogram (EEG) monitoring and are sometimes misinterpreted as epileptiform discharges. Six and 14 Hz positive spikes are one of such BEVs seen especially in children. However, these variants can also be seen in intensive care unit EEG recordings. Here, we have reviewed the history and electrical details of these 6 and 14 Hz variants with their clinical significance.
{"title":"6 and 14 Hz Positive Spikes on Scalp Electroencephalogram","authors":"Kalpesh Sanariya, Arun Garg, Aniruddha More, A. Bansal","doi":"10.1055/s-0038-1654755","DOIUrl":"https://doi.org/10.1055/s-0038-1654755","url":null,"abstract":"Abstract Benign epileptiform variants (BEVs) are often noted in routine electroencephalogram (EEG) monitoring and are sometimes misinterpreted as epileptiform discharges. Six and 14 Hz positive spikes are one of such BEVs seen especially in children. However, these variants can also be seen in intensive care unit EEG recordings. Here, we have reviewed the history and electrical details of these 6 and 14 Hz variants with their clinical significance.","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0038-1654755","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47658552","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}
5. A 25-year-old body-builder who suffers from depression arrives in the emergency department after a suspected overdose of gamma hydroxybutyrate. He has a blood pressure of 100/76 mm Hg, pulse of 48 beats min, small reactive pupils, Glasgow Coma Score of 3, temperature of 36.58C and glucose level of 5.1 mmol litre. Before arrival, paramedics administer diazepam for abnormal movements. Appropriate statements include:
{"title":"Multiple Choice Questions","authors":"D. Menon, Sanjeev V Thomas","doi":"10.1055/s-0038-1669493","DOIUrl":"https://doi.org/10.1055/s-0038-1669493","url":null,"abstract":"5. A 25-year-old body-builder who suffers from depression arrives in the emergency department after a suspected overdose of gamma hydroxybutyrate. He has a blood pressure of 100/76 mm Hg, pulse of 48 beats min, small reactive pupils, Glasgow Coma Score of 3, temperature of 36.58C and glucose level of 5.1 mmol litre. Before arrival, paramedics administer diazepam for abnormal movements. Appropriate statements include:","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0038-1669493","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45382732","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}
Pub Date : 2017-07-01DOI: 10.1016/j.ijep.2017.08.001
Sheena P. Kochumon , Dhanya Yesodharan , KP Vinayan , Natasha Radhakrishnan , Jayesh J. Sheth , Sheela Nampoothiri
GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells.GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of GM2A.We report a case of a female child who presented with clinical features similar to classical Tay-Sachs disease, but with normal beta hexosaminidase enzyme levels. Molecular study revealed a novel homozygous intronic mutation which confirmed the diagnosis of GM2 Activator protein deficiency. GM2 Activator protein deficiency is a mimic of Classical Tay-Sachs disease and should be a differential diagnosis in children who present with neuroregression, cherry red spots without hepatosplenomegaly and with normal beta hexosaminidase enzyme levels.
{"title":"GM2 activator protein deficiency, mimic of Tay-Sachs disease","authors":"Sheena P. Kochumon , Dhanya Yesodharan , KP Vinayan , Natasha Radhakrishnan , Jayesh J. Sheth , Sheela Nampoothiri","doi":"10.1016/j.ijep.2017.08.001","DOIUrl":"10.1016/j.ijep.2017.08.001","url":null,"abstract":"<div><p><span>GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells.GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of </span><em>GM2A.</em><span><span><span>We report a case of a female child who presented with clinical features similar to classical Tay-Sachs disease, but with normal beta hexosaminidase enzyme levels. Molecular study revealed a novel homozygous intronic mutation which confirmed the diagnosis of </span>GM2 Activator protein deficiency. GM2 Activator protein deficiency is a mimic of Classical Tay-Sachs disease and should be a </span>differential diagnosis in children who present with neuroregression, cherry red spots without hepatosplenomegaly and with normal beta hexosaminidase enzyme levels.</span></p></div>","PeriodicalId":38086,"journal":{"name":"International Journal of Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2017-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijep.2017.08.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41357796","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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