Search

Objective: To unravel the clinical and genetic specifications of Neuronal ceroid lipofuscinosis (NCL). Methods: This is a retrospective cross-sectional study conducted in the Department of Pediatric Neurology Children Hospital and University of Child Health Sciences, Lahore, Pakistan from March 2017 to March 2022. The primary outcome was to measure genotype-phenotype correlation by segregation of phenotypes according to genotype. The secondary outcomes included a correlation between genotype and distribution of age(s) of onset. Results: One hundred fifty three patients clinically diagnosed with NCL underwent genetic testing and pathologic mutation was identified in 32.7% of patients. About 59.6% were male and 37.2% had an affected sibling. The median age was 5.46±1.95 years at the onset of the first symptom i.e., myoclonic seizures in 68%, and motor difficulty in 24%. Other features found were global developmental delay (56%), hypotonia (23%), visual impairment (80%), ataxia (22%), and disc pallor (56%). The most common type was CLN6 (Ceroid lipofuscinosis neuronal) (42%), CLN2 (16%) followed by CLN7 (12%). When 50 patients with recognized mutations were compared with 103 patients with no mutation, family history (p=0.049), early visual loss (p=0.016), hypotonia (p=0.001), white matter signals (p=0.026) and pan-atrophy(p=0.047) was statistically significant in the genetically confirmed NCL. Multiple pairwise comparisons indicated that the estimated age of onset for the CLN1 and CLN2 mutation group was significantly lower than other genotypes including CLN6 (p 0.012), CLN10 (p 0.007) and CLN12 (p 0.007). Conclusion: Following a detailed review of NCL symptomatology, a clinically-oriented approach should be used for a rapid diagnosis with confirmation by targeted molecular testing for future genetic counseling. [ABSTRACT FROM AUTHOR]

Back ground: In General Anaesthesia changes in Hemodynamic parameters during induction is more common. In elderly patient with cardiovascular diseases profound changes in hemodynamic parameters2. To alleviate the profound changes in hemodynamic parameters we use either Propofol or Thiopentone Sodium regularly as induction agent. But recently we use Etomidate as choice of induction agent in cardiovascular patients. Aim: The aim of the study is to compare the haemodynamic effects of Propofol and Etomidate during induction and intubation in geriatric patients with cardiovascular disease for non-cardiovascular surgeries. Materials and methods; The present study included 80 patients aged between 60-80 years of ASA grade III and IV scheduled for elective non cardiac surgeries. The patients were randomly divided into two groups. Group P received Inj. Propofol 1% (2mg/kg of body weight) and group E received Inj. Etomidate (0.3mg/kg of body weight). The heart rate and mean arterial pressure were monitored continuously and recorded before induction, at induction and laryngoscopy followed by 1st, 3rd, 5th and 10th minutes after intubation. Results; As compared to the Etomidate group, there were significant changes in systolic blood pressure, diastolic blood pressure and mean arterial pressure after intubation with Propofol induction1 Conclusion; The results showed that hemodynamic disturbances are more with Propofol when compared to Etomidate. We infer that Etomidate has higher hemodynamic stability as a result. [ABSTRACT FROM AUTHOR]

Epilepsy, a chronic neurological condition, impacts millions of individuals globally and remains a significant contributor to both illness and mortality. Available antiepileptic drugs have serious side effects which warrants to explore different medicinal plants used for the management of epilepsy reported in Traditional Indian Medicinal System (TIMS). Therefore, we explored the antiepileptic potential of the Grewia tiliaefolia (Tiliaeceae) which is known for its neuroprotective properties. Aerial parts of G. tiliaefolia were subjected to extraction with increasing order of polarity viz. hexane, chloroform and methanol. Antioxidant potential of hexane, chloroform and methanol extracts of G. tiliaefolia was evaluated by 2,2-diphenyl-1-picryl-hydrazyl-hydrate (DPPH) assay, total antioxidant capacity (TAC) assay, reducing power assay (RPA) and DNA nicking assay. Additionally, quantitative antioxidant assays were also conducted to quantify total phenolic (TPC) and total flavonoid content (TFC). As revealed by in vitro assays, methanol extract was found to contain more phenolic content. Hence, the methanol extract was further explored for its anticonvulsant potential in pentylenetetrazole (PTZ) induced acute seizures in mice. The methanol extract (400 mg/kg) significantly increased the latency to occurrence of myoclonic jerks and generalized tonic clonic seizures (GTCS). Additionally, it also reduced duration and seizure severity score associated with GTCS. The Grewia tiliaefolia methanol extract was further screened by Ultra High-Performance Liquid Chromatography (UHPLC) for presence of polyphenolic compounds, among which gallic acid and kaempferol were present in higher amount and were further analysed by in silico study to predict their possible binding sites and type of interactions these compounds show with gamma amino butyric acid (GABA) receptor and glutamate α amino-3- hydroxyl-5-methyl-4-isoxazolepropionic acid (Glu-AMPA) receptor. It was revealed that gallic acid and kaempferol had shown agonistic interaction for GABA receptor and antagonistic interaction for Glu-AMPA receptor. We concluded that G. tiliaefolia showed anticonvulsant potential possibly because of gallic acid and kaempferol possibly mediated through GABA and Glu-AMPA receptor. [ABSTRACT FROM AUTHOR]

IntroductionSub-acute sclerosing panencephalitis (SSPE) is a chronic, progressive neurodegenerative disorder, commonly seen in measles-endemic countries leading to progressive neuronal loss and death. Currently, there is no proven cure for this devastating disease. We started a low glycemic index therapy (LGIT) in children with SSPE using the same principle as per its role in intractable epilepsy.MethodologyLow glycemic index diet was started in children with a confirmed diagnosis of SSPE based on Dyken's criteria. All children were then classified into four stages according to disease progression. The response to diet was evaluated by improvement in their myoclonic jerks, motor activities, and changes in their stage of the disease.ResultsA total of 12 children were enrolled. The mean age was 6.65 years (range 3.3–10 years), with a male-to-female ratio of 2:1. Five children were at stage IV, five were at stage III, and two were at stage II at the start of the diet. Nine (75%) children showed improvement in their stage of illness. Of three children who were at stage IV at the initiation of the diet, one improved to stage II and two to stage III. Four children at stage III reverted to stage II. Two children initiated at stage II went into total remission. Seven (58.3%) children showed a >50% reduction in myoclonic jerks with three (25%) having a 100% reduction. Three (25%) children died due to pneumonia.ConclusionLGIT may play an effective role in the management of SSPE and gives hope to families having children with this potentially life-threatening disease.

Background: Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients. Methods: A multicenter, descriptive cross-sectional study enrolled patients 18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected. Results: 9 males and 9 females were included (mean age of 13.9 years). Tremor was characterized by: upper limb onset at a mean age of 6.5 years; at enrollment, upper limbs localization, and involvement of an additional body region in 28% of the patients; kinetic tremor in all of the patients combined with postural tremor in 17 and rest tremor in 3; tremor mean frequency of 7.6 Hz, mean burst duration of 82.7 ms; identification of mild myoclonic jerks on the polymyographic recordings in 7 patients; altered quality of life with worse emotional outcomes in girls and when a disease duration >5 years was suggested. Discussion: Childhood-onset ET is associated with delayed diagnosis and remarkable functional impact. Electromyographic identification of additional mild myoclonus is a new finding whose significance is discussed. Highlights: ET onset involved upper limbs and at inclusion, 28% of the patients exhibited involvement of an additional body region. ET impacted quality of life for all patients. Girls and patients affected for >5 years reported worse emotional outcomes. Mild myoclonic jerks were identified on 7/17 polymyographic recordings. [ABSTRACT FROM AUTHOR]

Background: Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder of children and young adults. In the setting of the COVID-19 pandemic, we have observed increasing admissions of SSPE and a change in the clinical profile, mainly younger age of presentation, i.e., children under the age of 5 years. Clinical Description: We presented the clinical and investigational characteristics of 20 children who were diagnosed as SSPE during the period March 2020–March 2021 in our hospital, based on the Dyken criteria. The mean age was observed to be 3 years 9 months and male-to-female ratio of 1:1. Most children presented with developmental regression and myoclonic jerks. The clinical details and investigations were presented and a few atypical cases were discussed. Management: All the patients were treated symptomatically: anticonvulsant drugs, nutritional rehabilitation and supported feeding, occupational therapy, and palliative therapy. A trial of isoprinosine was started in all the patients, but was discontinued by most due to the expense. There were no mortalities. Conclusion: The change in profile of SSPE to an earlier onset in the setting of the pandemic should make the clinician keep a high index of suspicion of this disorder in children under the age of five years who present with unexplained developmental regression or acute encephalopathy, before the onset of typical myoclonus.

Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4–5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient’s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr.

Medicinal mushrooms are widely available as health supplements, and the federal government does not currently require these products to be examined for quality and contents. This places consumers at risk for unintentional ingestion of other substances, including toxic mushroom species. We describe a case report of an ingestion of an edible medicinal mushroom product likely contaminated with muscimol, the primary toxin of Amanita muscaria . A 17-year-old female presented with altered mental status, mydriasis, salivation, and myoclonic jerks that were refractory to benzodiazepines. She was intubated for airway protection and had spontaneous improvement of all her symptoms with return to baseline within 8 hours of presentation. She disclosed ingestion of the chocolate bar brand "Diamond Shruumz" that has been recalled for muscimol contamination. She was discharged home the day after presentation without symptom recurrence. This case displays the toxidrome of muscimol ingestion consistent with prior reports in the literature from muscimol containing mushroom ingestion. To our knowledge, this is among the first reports of Amanita muscaria ingestion from a commercially available medicinal mushroom product., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Survivors of an out-of-hospital cardiac arrest are at a high risk of mortality and morbidity especially when there is resultant global hypoxic brain injury. In these situations, the patient's degree of neurologic recovery may be uncertain and family decision making is often difficult. Decision making may also be complicated by the age of the patient and one's underlying cultural and spiritual beliefs stressing the importance of patient- and family-centered care. In this article, this clinical case demonstrates the challenges in decision making and highlights the importance of communication among the health care team and the family to align the patient's goals, values, and preferences in light of a poor neurological prognosis. [ABSTRACT FROM AUTHOR]

Abstract Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain stimulation (DBS) has shown significant promise in treating these patients. There is only one report in the literature of a patient with positive SGCE mutation and isolated myoclonus phenotype who has been successfully treated with DBS. Case Presentation We present a case of a 16-year-old young man with a history of quick jerks since childhood. They progressed gradually over the years involving the entire body and interfering with most of his daily activities. He had no dystonia. Genetic testing identified a single base deletion in exon 3 of the SGCE gene, considered very likely pathogenic. After unsuccessfully trying several oral medications, he underwent DBS of the globus pallidus internus (GPi). His Unified Myoclonus Rating Scale score during rest and with action improved by 92.8% and 82.6%, respectively. Discussion The striking effect of DBS on myoclonic jerks confirms the superior benefit of DBS over oral medications. Further study is needed to determine the role of mutation status in predicting DBS response, especially considering that myoclonus-dystonia is genetically heterogeneous. Conclusion Our case confirms the poor response to oral medications and supports the use of GPi DBS for patients with genetically confirmed myoclonus-dystonia and isolated-myoclonus phenotype. In addition, our case represents familial myoclonus-dystonia due to a novel SGCE mutation.

Background: Subacute sclerosing panencephalitis (SSPE) is a disease of childhood and adolescence, but can affect adults. Rapidly progressive cognitive decline, seizures including myoclonic jerks, spasticity, ataxia, visual disturbances, and incontinence are typical manifestations. Case report: A 62-year-old woman who presented with rapidly progressive dementia and myoclonus was diagnosed with SSPE. There was resolution of the movement disorder with clonazepam and valproic acid treatment and some amelioration of cognitive decline after 3 months of therapy with interferon alfa and isoprinosine. Discussion: With the recent rise in measles cases worldwide, any increased incidence of SSPE would require vigilance for early interventions.

Introduction: Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain stimulation (DBS) has shown significant promise in treating these patients. There is only one report in the literature of a patient with positive SGCE mutation and isolated myoclonus phenotype who has been successfully treated with DBS. Case Presentation: We present a case of a 16-year-old young man with a history of quick jerks since childhood. They progressed gradually over the years involving the entire body and interfering with most of his daily activities. He had no dystonia. Genetic testing identified a single base deletion in exon 3 of the SGCE gene, considered very likely pathogenic. After unsuccessfully trying several oral medications, he underwent DBS of the globus pallidus internus (GPi). His Unified Myoclonus Rating Scale score during rest and with action improved by 92.8% and 82.6%, respectively. Discussion: The striking effect of DBS on myoclonic jerks confirms the superior benefit of DBS over oral medications. Further study is needed to determine the role of mutation status in predicting DBS response, especially considering that myoclonus-dystonia is genetically heterogeneous. Conclusion: Our case confirms the poor response to oral medications and supports the use of GPi DBS for patients with genetically confirmed myoclonus-dystonia and isolated-myoclonus phenotype. In addition, our case represents familial myoclonus-dystonia due to a novel SGCE mutation. [ABSTRACT FROM AUTHOR]

Differential diagnosis of seizures and convulsive syncope may be challenging in clinical practice. Furthermore, a misleading diagnosis of epilepsy may be detrimental for the patient as it often implies an over-prescription and an over-use of antiepileptic drugs which can cause adverse reactions. Moreover, a wrong diagnosis also causes distress to the patient with the risk of performing plenty of investigations without any benefits on the symptoms. In this case, we present a 57-year-old patient suffering from recurrent convulsive syncope over the last 7 years for which he underwent several cardiological and neurological tests and took plenty of antiepileptic drugs without any benefits on his convulsive episodes with loss of consciousness. During hospitalization, a chest X-ray was performed revealing an unknown diaphragmatic hernia with eventration of the transverse colon in the right hemitorax and mild cardiac compression. The patient underwent laparotomic surgery and diaphragmatic reconstruction with complete recovery. After 6-month follow-up, the patient no longer had episodes of convulsive syncope. [ABSTRACT FROM AUTHOR]

A 7.5 years girl presented with myoclonic jerks with prolonged duration coming progressively at shorter intervals for last six moinths. There was declining academic performances. The dystonic, dyskinetic movements and ataxia were there for last three months. The stages were progressing too rapidly. IgG antibody titre to measles virus was found to be positive with EEG changes which confirms diagnosis. SSPE at so early age with atypical presentation is unique in this indexed case.

Background: Subacute sclerosing panencephalitis (SSPE) is a disease of childhood and adolescence, but can affect adults. Rapidly progressive cognitive decline, seizures including myoclonic jerks, spasticity, ataxia, visual disturbances, and incontinence are typical manifestations. Case report: A 62-year-old woman who presented with rapidly progressive dementia and myoclonus was diagnosed with SSPE. There was resolution of the movement disorder with clonazepam and valproic acid treatment and some amelioration of cognitive decline after 3 months of therapy with interferon alfa and isoprinosine. Discussion: With the recent rise in measles cases worldwide, any increased incidence of SSPE would require vigilance for early interventions. [ABSTRACT FROM AUTHOR]

Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear.Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam) also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy.Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the framework of epileptiform EEG activity can be interpreted as a (para)epileptic mechanism due to local area network inhibition (LANI). Following the LANI hypothesis, paranoid hallucinatory symptoms are not due to primary excitatory activity (as myoclonic jerks are) but rather to the secondary process of hyperinhibition triggered by epileptic activity. Identifying subgroups of schizophreniform patients with comorbid epilepsy is important because of the potential benefits of optimized pharmacological treatment.

Background and Objective: Infantile spasm (IS) is one of the severe epileptic encephalopathies which affect children in early two years of life. Our objective was to determine the clinical profile, etiology and outcome of treatment in children with infantile spasms attending tertiary care hospital at Karachi, Pakistan. Methods: This is retrospective study of 36 patients out of 94 registered as IS, aged three months to two years, managed and followed up at Aga Khan University Hospital, Karachi, from 2010 to 2015. Data of all children with IS was collected from case record. Details including clinical observations, lab investigations, anti-epileptic medications and treatment outcome was collected and analyzed. Patients who received treatment for six weeks to document response were included. The treatment response was categorized as complete response, partial response (>50% improvement) and no response. Data was analyzed on SPSS using descriptive statistics. Results: Thirty-six patients (38.29%) with IS fulfilled eligibility criteria. The mean ± SD age at presentation was 4.6±2.1 months. Male to female ratio was 2:1. Consanguinity and developmental motor delay was observed in 66.6% and 89% respectively. Symptomatic etiology was predominant (61%) and hypoxic ischemic insult (32%) was the commonest underlying cause. EEG and MRI were diagnostic tools whereas metabolic studies were not helpful. Multiple antiepileptic drugs were used for seizure control and vigabatrin was the most frequently used (88%) drug. Short term treatment response was not different in idiopathic or symptomatic infantile spasms. Conclusion: Majority of patients had symptomatic infantile spasms and generalized tonic clonic along with myoclonic jerks were predominant seizure types. EEG and MRI were diagnostic in most of cases. Multiple AEDs were required to control seizures and VGB was most common drug (88%) used. Treatment outcome was not different in idiopathic and symptomatic groups. [ABSTRACT FROM AUTHOR]

Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear. Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam) also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy. Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the framework of epileptiform EEG activity can be interpreted as a (para)epileptic mechanism due to local area network inhibition (LANI). Following the LANI hypothesis, paranoid hallucinatory symptoms are not due to primary excitatory activity (as myoclonic jerks are) but rather to the secondary process of hyperinhibition triggered by epileptic activity. Identifying subgroups of schizophreniform patients with comorbid epilepsy is important because of the potential benefits of optimized pharmacological treatment. [ABSTRACT FROM AUTHOR]

A 7.5 years girl presented with myoclonic jerks with prolonged duration coming progressively at shorter intervals for last six moinths. There was declining academic performances. The dystonic, dyskinetic movements and ataxia were there for last three months. The stages were progressing too rapidly. IgG antibody titre to measles virus was found to be positive with EEG changes which confirms diagnosis. SSPE at so early age with atypical presentation is unique in this indexed case. [ABSTRACT FROM AUTHOR]

In 2010, a novel anti-neuronal autoantibody, termed anti-Ca, was described in a patient with subacute cerebellar ataxia, and Rho GTPase-activating protein 26 (ARHGAP26) was identified as the target antigen. Recently, three additional cases of anti-Ca-positive cerebellar ataxia have been published. In addition to ataxia, cognitive decline and depression have been observed in some patients. Here, we report two new cases of anti-Ca-associated autoimmune cerebellar ataxia. Patient 1 presented with dizziness and acute yet mild limb and gait ataxia. Symptoms stabilized with long-term oral corticosteroid therapy but transiently worsened when steroids were tapered. Interestingly, both initial occurrence and worsening of the patient's neurological symptoms after steroid withdrawal were accompanied by spontaneous cutaneous hematomas. Patient 2 initially presented with an increased startle response and myoclonic jerks, and subsequently developed severe limb and gait ataxia, dysarthria, oculomotor disturbances, head and voice tremor, dysphagia, cognitive symptoms and depression. Steroid treatment was started five years after disease onset. The symptoms then responded only poorly to corticosteroids. At most recent follow-up, 19 years after disease onset, the patient was wheelchair-bound. These cases extend the clinical spectrum associated with anti-ARHGAP26 autoimmunity and suggest that early treatment may be important in patients with this rare syndrome. [ABSTRACT FROM AUTHOR]

It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. In patients, the onset of FS is likely due to the combined effect of temperature and inflammation in genetically vulnerable individuals because fever is often associated with infection. Much effort has been spent to understand the mechanisms underlying fever induction of seizures. In addition to the role of cytokines in FS, previous studies in Scn1a +/− knockout mice, a model of Dravet syndrome, indicated that temperature elevation alone could result in seizure generation, and the effect of elevated temperature inducing seizures was age-dependent. Here, we report the thermal effect in a different mouse model of Dravet syndrome, the Gabrg2 +/Q390X knockin mouse. We demonstrated age-dependent dysregulated temperature control and that temperature elevation produced myoclonic jerks, generalized tonic clonic seizures (GTCSs) and heightened anxiety-like symptoms in Gabrg2 +/Q390X mice. The study indicated that regardless of other inflammatory factors, brief heat alone increased brain excitability and induced multiple types of seizures in Gabrg2 +/Q390X mice, suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations. [ABSTRACT FROM AUTHOR]

Introduction: Sub-acute sclerosing panencephalitis (SSPE) is a chronic, progressive neurodegenerative disorder, commonly seen in measles-endemic countries leading to progressive neuronal loss and death. Currently, there is no proven cure for this devastating disease. We started a low glycemic index therapy (LGIT) in children with SSPE using the same principle as per its role in intractable epilepsy., Methodology: Low glycemic index diet was started in children with a confirmed diagnosis of SSPE based on Dyken's criteria. All children were then classified into four stages according to disease progression. The response to diet was evaluated by improvement in their myoclonic jerks, motor activities, and changes in their stage of the disease., Results: A total of 12 children were enrolled. The mean age was 6.65 years (range 3.3-10 years), with a male-to-female ratio of 2:1. Five children were at stage IV, five were at stage III, and two were at stage II at the start of the diet. Nine (75%) children showed improvement in their stage of illness. Of three children who were at stage IV at the initiation of the diet, one improved to stage II and two to stage III. Four children at stage III reverted to stage II. Two children initiated at stage II went into total remission. Seven (58.3%) children showed a >50% reduction in myoclonic jerks with three (25%) having a 100% reduction. Three (25%) children died due to pneumonia., Conclusion: LGIT may play an effective role in the management of SSPE and gives hope to families having children with this potentially life-threatening disease., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Ibrahim and Farooq.)

Background: Creutzfeldt-Jakob disease (C-JD) is a rare disorder characterized with rapidly progressive mental decline, myoclonic jerk and finally death. The transmissible pathogen for this disease is a proteinaceous infectious particle termed prion. The prion protein is encoded by a gene (designated as PRNP) on the short arm chromosome 20.This disorder is diagnosed based on clinical findings, course of disease, EEG, MRI and confirmed with brain biopsy. Case report: A 56- year- old woman presented with confusion, disorientation, hyper somnolence, psychiatric problems such as hallucination, progressive mental deterioration and myoclonic jerks. She had history of several times phlebotomy with traditional and non sterile methods in two past years. She had no past history of other disease. Her illness was diagnosed based on clinical findings, course of her illness, typical MRI, EEG and rule out other dementing disease. She died after one month. Conclusion: in any patients with psychiatric disorders, rapidly progressive mental deterioration and myoclonic jerks C-JD should be considered as an important diagnosis. Treatable dementing disease should be considered and ruled out at first. The significance of phlebotomy in C-JD has yet to be determined.

Objectives: Subacute sclerosing panencephalitis (SSPE) is rare chronic, progressive encephalitis that affects primarily children and young adults, caused by a persistent infection with measles virus. No cure for SSPE exists, but the condition can be managed by medication if treatment is started at an early stage. Methods and Results: Heterogeneity of imaging findings in SSPE is not very uncommon. But pial and gyral enhancements are very rarely noticed. Significant asymmetric onset as well as pial-gyral enhancements is not reported. Herein we present a case of 16 years adolescent of SSPE having remarkable asymmetric pial-gyral enhancements, which were misinterpreted as tubercular infection. Conclusion: Early diagnosis and treatment is encouraging in SSPE, although it is not curable with current therapy. Clinico-radiological and electrophysiological correlation is very important in diagnosis of SSPE, more gravely in patients having atypical image findings as in our index case.

Some factors have been identified as contributing to medical errors, such as labels, appearance and location of ampoules. We present a case of accidental injection of tranexamic acid instead of Bupivacaine during spinal anaesthesia. One minute after the injection of 3 mL of the solution, the patient developed myoclonus of her lower extremities. Accidental intrathecal injection of the wrong drug was suspected and a used ampoule of tranexamic acid was discovered in the trash can. The ampoules of Bupivacaine (5 mg/mL, trade name "Sensovac Heavy") and tranexamic acid (500 mg/mL, Trade name "Nexamin") were similar in appearance. Her myoclonus was successfully treated with phenytoin, sodium valproate, thiopental sodium infusion, midazolam infusion and supportive care of haemodynamic and respiratory systems. The surgery was temporarily deferred. The patient′s condition progressively improved to full recovery.

We report MR imaging features of vanishing white matter disease in a 7-year-old boy, who manifested with seizures, aphasia, spastic quadriparesis and myoclonic jerks. MRI of brain showed diffuse white matter signal changes of CSF intensity in all the sequences. MR spectroscopy of white matter showed severe decrease in NAA, choline and creatine and presence of lactate peak. Additional notable findings were diffuse extensive brain stem and thalamic atrophy. The clinico-radiological correlation was consistent with the diagnosis of vanishing white matter disease. Reporting of such cases may widen the spectra of these disorders.

Aim: Epilepsy is a chronic neurological disorder with complex pathophysiology. Several evidences suggest a role of oxidative stress and mitochondrial dysfunction in pathophysiology of epilepsy. Hesperidin (Hesp) acts as a powerful anti-oxidant agent against superoxide, singlet oxygen, and hydroxyl radicals. Thus, this study was undertaken to evaluate the possible neuroprotective mechanism of Hesp against pentylenetetrazole (PTZ)-induced convulsions in mice. Materials and Methods: Sixty males Laca mice (20-25 g) were randomly divided into 10 treatment groups (n = 6). Seven days pretreatment of Hesp (100, 200 mg/kg, p.o.) was carried out before PTZ (80 mg/kg, intraperitoneal [i.p.]) challenge, whereas diazepam (DZP) (0.2, 0.5 mg/kg) and gabapentin (Gbp) (10, 20 mg/kg) were administered i.p. 30 min before PTZ administration, that is, on 7th day. Following PTZ challenge, severity of convulsions (onset of jerks, myoclonic seizures, extensor phase and death), brain anti-oxidant enzyme levels and mitochondrial complex enzymes activities were estimated. Results: Single i.p. PTZ (80 mg/kg) challenge demonstrated severe convulsions, oxidative damage (raised lipid peroxidation [LPO], nitrite concentration as well as depleted reduced glutathione, superoxide dismutase and catalase levels), and depletion of mitochondrial enzyme Complex (I, II, IV) activities. Hesp (200 mg/kg), DZP (0.5 mg/kg) and Gbp (20 mg/kg) pretreatments attenuated PTZ induced behavioral, biochemical and mitochondrial alterations. However, administration of Hesp (100 mg/kg) in combination with DZP (0.2 mg/kg) or Gbp (10 mg/kg) potentiated their neuroprotective effect, which was significant as compared to their effects in PTZ treated animals. Conclusion: Hesp possesses potent anticonvulsant activity which might be mediated through modulation of gamma-amino butyric acid/benzodiazepine receptor action. [ABSTRACT FROM AUTHOR]

Idiopathic generalized epilepsy (IGE) of adolescence is one of the most common types of epilepsy with seizure onset in childhood or in adolescence. Knowledge of clinical and electroence-phalographical (EEG) features of IGE is crucial for the correct diagnosis since IGE has a drug-dependent course and usually is well controlled with adequate treatment, while untreated or treated improperly may become resistant and continue for many years. In the present study we analyze clinical and EEG features and their relationship in adolescent patients with IGE. Patients and methods. We recruited 59 adolescent patients aged 14-17 years with IGE, 32 (54.2%) were newly diagnosed and untreated, 27 (48.8%) had an established diagnosis of IGE and were treated with antiepileptic medications. All patients had a routine EEG with habitual methods of activation - intermittent light stimulation (ILS), hyperventilation (HV) and sleep EEG after sleep deprivation with recorded period of awakening. Results. The initial seizure type was generalized tonic-clonic seizure (GTCS) in 38 (64.4%) cases, myoclonic jerks - in 18 (30.5%) and absences - in 3 (5.1%). Only 3 (5.1%) patients were referred to physician because of myoclonic jerks, most of them were referred because of the subsequent GTCS. During the course of the disease 30 (50.8%) patients had only GTCS, 29 (49.2 %) had myoclonic jerks in combination with GTCS with or without absences. Epileptiform discharges (ED) in the awake EEG were registered in 20 (33.9%) cases, 20 (33.9%) patients had ED in ILS and 15 (25.4%) - during HV. ED in the sleep EEG were present in 50 (84.7%) cases, 29 (49.2%) patients had ED in the awakening EEG. ED in the awake EEG were registered more frequently in the untreated group as compared to the treated group (15 (46.9%) of 32 and 5 (18.5%) of 27 respectively, p=0.029). ED during ILS were also more frequently found in the untreated patients group as compared to the treated group (17 (85.0%) of 32, and3 (11.1%) of 27, p=0.001). Time period after the last GTCS was shorter in the group of patients with ED in the awake EEG as compared to the group without ED (5.7±13.1 and 8.4±14.2 months respectively, p=0.008) and in the group of patients with ED during HV (6.5±14.4 and 7.8±13.8 months respectively, p=0.049) as compared to the groups without ED. Epilepsy duration was shorter in the group of patients with ED during ILS as compared to that without ED (8.8±13.1 and 16.8±15.2 months respectively, p=0.024). No clinical differences were found between the groups of patients with ED and without ED during sleep EEG or awakening EEG. Conclusions. Myoclonic jerks have been unrecognized as epileptic seizures by the patients, therefore adolescents presenting with the GTCS should be purposefully asked about the possible presence of this kind of seizure. Routine awake EEG may be informative only in a part of patients with IGE. ED were more common in the EEG of untreated IGE patients and in more recent period after GTCS. Sleep EEG was definitely the most informative diagnostic tool while evaluating adolescents with IGE, both in cases with newly diagnosed and established IGE. [ABSTRACT FROM AUTHOR]

Abstract: Although the mechanism underlying the anti-epileptic effects of a ketogenic diet (KD) is not known, KD is reported to be an effective treatment for intractable epilepsy, in particular among children. Here, we evaluated whether a KD can reduce posthypoxic seizure and myoclonic jerks in a rat model of cardiac arrest-induced cerebral hypoxia. In this study, rats were divided into two groups: one group received a normal diet while the other group was fed a KD for 25 days before being subjected to cardiac arrest-induced cerebral hypoxia. We found that rats fed a normal diet developed seizures and severe myoclonic jerks in response to auditory stimuli after the hypoxic insults, whereas the rats on the KD did not develop seizure and showed much less severe myoclonic jerks in response to auditory stimuli. The results suggested that the KD has beneficial effects against posthypoxic seizure and myoclonus. [Copyright &y& Elsevier]

The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia. There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 μg/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels. There was poor therapeutic response to symptomatic treatment. [ABSTRACT FROM AUTHOR]

Background: Malformations of cortical development can cause epileptiform activity and myoclonic jerks, yet EEG correlates of jerks can be difficult to obtain. Methods: We studied a woman who had frequent episodes of persistent right-foot jerking since childhood. Ictal and interictal EEG had shown no localizing epileptiform activity. Functional imaging experiments were performed with concurrent video monitoring to document the timing of foot jerks. These studies mapped brain regions controlling voluntary right- and left-foot movements, and spontaneous right-foot jerks. Results: High-resolution structural MR imaging revealed a dysplastic gyrus extending anteriorly off the left central sulcus. Event-related analysis of spontaneous jerks revealed prominent activation of the left precentral gyrus (right-foot motor area), bilateral medial frontal regions (supplementary motor area), and the dysplastic gyrus. Hemodynamic response modeling to foot jerks revealed the hemodynamic response peaked earlier in the dysplastic cortex and SMA regions than in the foot area. Discussion: Event-related fMRI in a patient with spontaneous and induced epileptic foot jerks revealed brain regions active during jerks. The results of this analysis allowed us to tailor subsequent intracerebral recordings. Analysis of the timing of the hemodynamic response showed certain brain regions with an earlier rise in BOLD signal, suggesting a possible initiating role, or different hemodynamic response functions. Hemodynamic response timing should be considered carefully when interpreting event-related studies of epileptiform activity. [ABSTRACT FROM AUTHOR]

Although diagnosis of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, is based on clinical and electroencephalogram (EEG) criteria, at times clinical symptoms may be misleading, like the occurrence of asymmetric myoclonic jerks. Thus EEG assumes an important role in these cases, it can fail to show the classical polyspike and slow wave (PSW) discharges of JME, specially in a routine evaluation in older patients. We analyzed retrospectively EEG results of 35 patients with JME [Commission on Classification and Terminology of the International League Against Epilepsy (ILAE) Epilepsia 1989; 30: 389] aged 12–44 years. (mean 22.7 years) at first medical evaluation. EEG findings of 35 patients (19 females, 16 males) with JME consisted of normal tracings in 22.9 and 54.3% had at least one normal exam. EEG abnormalities present in 27 patients (77.1%) consisted of isolated generalized slowing in two and generalized discharges in 25: irregular spike and wave complexes (SWC) in 76%; PSW in 48%; SWC faster than 3 Hz in 20%; spikes, sharp waves, and irregular slow waves in 24%; asymmetric generalized epileptiform discharges in 40%; and associated focal paroxysms in 12%. Thus JME is classically associated to PSW on EEG, the most frequent abnormality was irregular SWC. Generalized paroxysms could occur in an asymmetric fashion and rarely associated to focal activity. [ABSTRACT FROM AUTHOR]

Copyright of Archiv für Psychiatrie und Nervenkrankheiten is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract: Juvenile myoclonic epilepsy is the most common form of idiopathic generalized epilepsy with onset at puberty or late teenage years. About 80–90% of patients with juvenile myoclonic epilepsy respond to appropriate antiepileptic treatment and achieve seizure freedom, and about 15% of patients become intractable. Valproic acid, levetiracetam, lamotrigine, topiramate and zonisamide are used as first line or adjunctive therapy of this disorder. Lacosamide is approved for adjunctive treatment of partial onset epilepsies. The role of lacosamide in treatment of idiopathic generalized epilepsy including juvenile myoclonic epilepsy is unknown. We present three patients with classic clinical and electrographic features of juvenile myoclonic epilepsy that were maintained on lacosamide (one on monotherapy and two as adjuvant therapy). There were no special pharmacodynamic actions causing exacerbation or worsening of myoclonic jerks or generalized seizures in these three patients. In conclusion, although, the data from our three patients’ suggest that lacosamide may be effective in the treatment of juvenile myoclonic epilepsy, larger studies are needed to explore efficacy and role of lacosamide in the treatment of this disorder. [Copyright &y& Elsevier]

Some factors have been identified as contributing to medical errors, such as labels, appearance and location of ampoules. We present a case of accidental injection of tranexamic acid instead of Bupivacaine during spinal anaesthesia. One minute after the injection of 3 mL of the solution, the patient developed myoclonus of her lower extremities. Accidental intrathecal injection of the wrong drug was suspected and a used ampoule of tranexamic acid was discovered in the trash can. The ampoules of Bupivacaine (5 mg/mL, trade name "Sensovac Heavy") and tranexamic acid (500 mg/mL, Trade name "Nexamin") were similar in appearance. Her myoclonus was successfully treated with phenytoin, sodium valproate, thiopental sodium infusion, midazolam infusion and supportive care of haemodynamic and respiratory systems. The surgery was temporarily deferred. The patient's condition progressively improved to full recovery. [ABSTRACT FROM AUTHOR]

Background. Bromides are still sold as sedatives, antitussives, and anticonvulsants in many countries. Bromovalerylurea is a bromide-containing sedative-hypnotic that is occasionally combined with non-steroidal anti-inflammatory drugs in over-the-counter products. Chronic intake of excessive bromovalerylurea can produce bromide intoxication, but acute bromovalerylurea intoxication presenting with myoclonic jerks has never been described. Case report. A 23-year-old woman was brought to our emergency department with unusual drowsiness. Her physical examination was normal except for frequent myoclonic jerks in all extremities that could be triggered by moving the patient or by noxious stimuli. Initial blood tests results were normal; the serum bromide concentration was 81.0 mg/L (reference <10 mg/L). Treatment with intravenous normal saline and furosemide resulted in gradual improvement in her drowsiness and myoclonic jerks. By the second hospital day, she was normal. A brain magnetic resonance imaging (MRI) was normal. At a 2-month follow-up visit, the patient had no neurological sequelae. Discussion. Chronic bromide intoxication caused by long-term abuse of bromovalerylurea may present as psychiatric or neurologic abnormalities. Our case of acute bromovalerylurea intoxication presented with severe myoclonic jerks and lethargy. The serum bromide concentration was similar to the reported concentrations in acute bromide intoxications. Treatment with normal saline and diuretics results in increased clearance of bromide and an improvement in clinical effects. Conclusion. Myoclonic jerks may be one of the major presentations of acute bromovalerylurea intoxication. Physicians should consider bromide intoxication in the differential diagnosis of the causes of myoclonic jerks. [ABSTRACT FROM AUTHOR]

Abstract: Myoclonic epilepsies comprise a heterogeneous group of epileptic syndromes characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures (multiplicity of seizure types). JME (Juvenile Myoclonic Epilepsy) is relatively common and usually responds well to treatment with appropriate anticonvulsants. Others like the progressive myoclonic epilepsy syndromes are relentlessly progressive, associated with cognitive decline and respond poorly to anticonvulsants. Myoclonic epilepsy is frequently misdiagnosed until the patient is specifically asked about the leading symptom, i.e., jerky movements occurring in the morning. We present here a patient who had been misdiagnosed as a tic disorder and treated for the past many years before the correct diagnosis of myoclonic epilepsy was made during an admission for Video-EEG monitoring. [Copyright &y& Elsevier]

The clinical and EEG features and reasons for frequent misdiagnosis of juvenile myoclonic epilepsy are reviewed by the Epilepsy Research Group, Institute of Neurology, National Hospital, and St Thomas’ Hospital, London, England.

Three patients with reflex epilepsy and myoclonic jerks of the right arm and fingers precipitated by calculation using a Soroban are reported from the Department of Neuropsychiatry, Osaka University Medical School, Fukushima-ku, Osaka, Japan.

A number of clinically used benzodiazepines were tested for their effectiveness in blocking muscimol-induced myoclonic jerks in mice. Their ED values were determined from their dose-response curves. These data gave the following relative potencies with respect to diazepam: diazepam=1, medazepam=0.24, oxazepam=1.27, flurazepam=1.90, lorazepam=3.01, nitrazepam=3.93, clonazepam=33.14, and flunitrazepam=116.00. Because our earlier studies indicated that muscimol-induced myoclonic jerks probably originate from the spinal cord, the present method may prove to be suitable for quantitatively evaluating the effect of benzodiazepines on the spinal cord. The present results also indicate the possible value of flunitrazepam in the management of neurologic disorders in which preferential action on the spinal cord is desired. [ABSTRACT FROM AUTHOR]