RESUMO
OBJECTIVES: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression. This study aimed to better characterize the spectrum of movement disorders in CLN2-disease in a cohort of children receiving enzyme replacement therapy (ERT). METHODS: A cohort of 18 children attending a single center for treatment with cerliponase alfa ERT was systematically assessed using a standardized structured history and a double-scored, video-recorded examination using the Unified Batten Disease Rating Scale (UBDRS) and Abnormal Involuntary Movement Scale. RESULTS: Noncanonical movement disorders are common: while ataxia (89%) and myoclonus (83%) were near-universal, spasticity and dystonia were experienced by over half (61% each), with children having a median of 4 distinct movement disorder phenotypes. This progression was stereotyped with initial ataxia/myoclonus, then hyperkinesia/spasticity, and later hypokinesia. ERT slows progression of movement disorders, as measured by the UBDRS physical subscale, with 1.45 points-per-month progression before diagnosis and 0.44 points-per-month while on treatment (p = 0.019). DISCUSSION: Movement disorders are a core feature of CLN2-disease and follow a typical pattern of progression which is slowed by ERT. Identifying and treating movement disorders should become standard, especially given increased patient survival.
Assuntos
Terapia de Reposição de Enzimas , Transtornos dos Movimentos , Lipofuscinoses Ceroides Neuronais , Humanos , Lipofuscinoses Ceroides Neuronais/tratamento farmacológico , Lipofuscinoses Ceroides Neuronais/genética , Lipofuscinoses Ceroides Neuronais/complicações , Masculino , Feminino , Terapia de Reposição de Enzimas/métodos , Criança , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/genética , Pré-Escolar , Adolescente , Progressão da Doença , Estudos de Coortes , Mioclonia/tratamento farmacológico , Mioclonia/genética , Resultado do Tratamento , Dipeptidil Peptidases e Tripeptidil Peptidases , Proteínas RecombinantesRESUMO
OBJECTIVE: Lance-Adams syndrome is a rare and debilitating disorder characterized by successful cardiopulmonary resuscitation resulting in myoclonus activity. Alcohol withdrawal seizures from alcohol use disorder may further exacerbate Lance-Adams syndrome. We aim to present a case of Lance-Adams syndrome complicated by alcohol withdrawal seizures and successfully treated with a combination of valproate, clonazepam, and gabapentin. MATERIALS AND METHODS: The patient's electronic medical record, direct patient care experiences, and a comprehensive literature search were used for this case report. We report a 41-year-old male patient with Lance-Adams syndrome with concurrent alcohol use disorder. Treatment was improved when adding gabapentin for alcohol use disorder treatment, alongside combination antiepileptic therapy. A PubMed search was conducted to examine Lance-Adams syndrome case reports of successful combination antiepileptic therapy, with a secondary evaluation of patients with concurrent alcohol use disorder. RESULTS: The literature search yielded 18 articles, which resulted in 21 individual cases in which combination antiepileptic drug therapy was successful in treating myoclonus secondary to Lance-Adams syndrome; however, none of the case reports utilized gabapentin synergistically. One case described Lance-Adams syndrome complicated by alcohol consumption and similar to our patient, the patient used alcohol to abolish myoclonic activity. CONCLUSIONS: To the best of our knowledge, this is the first case report documenting a patient with Lance-Adams syndrome and concurrent alcohol use disorder, with a positive effect of gabapentin use. Gabapentin, when used for alcohol use disorder treatment, may be an appropriate adjunct agent in the management of patients receiving combination antiepileptic therapy for the treatment of Lance-Adams syndrome.
Assuntos
Convulsões por Abstinência de Álcool , Anticonvulsivantes , Quimioterapia Combinada , Gabapentina , Humanos , Gabapentina/uso terapêutico , Masculino , Adulto , Anticonvulsivantes/uso terapêutico , Convulsões por Abstinência de Álcool/tratamento farmacológico , Convulsões por Abstinência de Álcool/complicações , Sinergismo Farmacológico , Ácido Valproico/uso terapêutico , Clonazepam/uso terapêutico , Mioclonia/tratamento farmacológico , Mioclonia/etiologiaRESUMO
BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Assuntos
Epilepsias Mioclônicas Progressivas , Convulsões , Humanos , Epilepsias Mioclônicas Progressivas/complicações , Epilepsias Mioclônicas Progressivas/diagnóstico , Convulsões/diagnóstico , Convulsões/complicações , Convulsões/etiologia , Convulsões/tratamento farmacológico , Mioclonia/diagnóstico , Mioclonia/etiologia , Mioclonia/complicações , Mioclonia/tratamento farmacológico , Masculino , Canais de Potássio Shaw/genética , Feminino , Eletroencefalografia/métodosRESUMO
Background: A wide variety of associated movement disorders has been described in multiple sclerosis. Phenomenology Shown: A 57-year-old woman with primary progressive multiple sclerosis developed spinal segmental myoclonus associated with focal myelitis. Educational Value: Movement disorders in multiple sclerosis are phenomenologically diverse and have varied pathophysiological mechanisms, making it essential to identify them to initiate appropriate treatment.
Assuntos
Transtornos dos Movimentos , Esclerose Múltipla Crônica Progressiva , Esclerose Múltipla , Mioclonia , Doenças da Medula Espinal , Feminino , Humanos , Pessoa de Meia-Idade , Mioclonia/tratamento farmacológico , Mioclonia/etiologia , Esclerose Múltipla/complicações , Esclerose Múltipla Crônica Progressiva/complicações , Esclerose Múltipla Crônica Progressiva/tratamento farmacológicoRESUMO
Bleeding tongue-biting episodes during sleep are a rare and alarming situation that can negatively impact the child's and parents' sleep, affecting their quality of life. Although highly suggestive of epilepsy, a differential diagnosis should be made with sleep-related movement disorders such as bruxism, hypnic myoclonus, facio-mandibular myoclonus, and geniospasm when this hypothesis is excluded. The clinical history, electroencephalogram, and video-polysomnography are essential for diagnostic assessment. Treatment with clonazepam can be necessary in the presence of frequent tongue biting that causes severe injuries and sleep disturbance. This study reports the challenging case of managing and diagnosing a 2-year-old boy with recurrent tongue biting during sleep since he was 12 months old, causing bleeding lacerations, frequent awakenings, and significant sleep impairment with daytime consequences for him and his family. CITATION: Cascais I, Ashworth J, Ribeiro L, Freitas J, Rios M. A rare case of tongue biting during sleep in childhood. J Clin Sleep Med. 2024;20(4):653-656.
Assuntos
Mioclonia , Masculino , Criança , Humanos , Pré-Escolar , Lactente , Mioclonia/tratamento farmacológico , Qualidade de Vida , Sono , Língua , Clonazepam/uso terapêuticoRESUMO
Objectives: This study aimed to reduce the intensity of myoclonus movements by comparing the effectiveness of granisetron and sufentanil in reducing the intensity of etomidate-induced myoclonic movements. Etomidate-induced myoclonus occurs in up to 85% of patients under general anaesthesia. This type of myoclonus can induce significant clinical and economic problems in patients with special conditions. Methods: This double-blind randomised clinical trial study consisted of 96 adult patients recruited between January and July 2021 from Mashhad University of Medical Sciences, Mashhad, Iran. Using block randomisation, subjects were divided into three groups of 32 patients: the group receiving granisetron 40 µg/kg (group G), the group receiving sufentanil 0.2 µg/kg (group S) and the control group who did not receive the pretreatment (group C). Patients received these medications as pretreatments 120 seconds before induction with etomidate. After the injection of etomidate with a dose of 0.3 mg/kg, the incidence of myoclonus was evaluated. After evaluating the myoclonus, the full dose of narcotics (fentanyl 1 µg/kg) and muscle relaxants (atracurium 0.5 mg/kg) were administered to patients and a suitable airway was established for them. Results: The findings indicated that granisetron reduced the intensity and incidence of myoclonic movements more than sufentanil. In addition, myoclonic movements were observed at a significantly higher intensity in the control group (P = 0.001). Conclusion: The results obtained from the current study indicate that granisetron and sufentanil as pretreatments are effective for reducing myoclonus in patients.
Assuntos
Etomidato , Mioclonia , Adulto , Humanos , Sufentanil/efeitos adversos , Etomidato/efeitos adversos , Granisetron , Mioclonia/induzido quimicamente , Mioclonia/tratamento farmacológico , Mioclonia/prevenção & controle , Anestesia GeralRESUMO
Post-hypoxic myoclonus (PHM) is a rare neurological complication having two different variants depending on acute or chronic onset after cardiopulmonary resuscitation following cardiac arrest: myoclonic status epilepticus (MSE) and Lance-Adams syndrome (LAS) respectively. Clinical and simultaneous electro-encephalographic (EEG) and electromyographic (EMG) tracing can distinguish between the two. Anecdotal treatment with benzodiazepines and anaesthetics (in the case of MSE) have been tried. Although limited evidence is available, valproic acid, clonazepam and levetiracetam, either in combination with other drugs or alone, have shown to control epilepsy associated with LAS effectively. Deep brain stimulation is a novel and promising advance in LAS treatment.
Assuntos
Reanimação Cardiopulmonar , Mioclonia , Humanos , Mioclonia/diagnóstico , Mioclonia/tratamento farmacológico , Mioclonia/etiologia , Hipóxia/complicações , Hipóxia/terapia , Clonazepam/uso terapêutico , Reanimação Cardiopulmonar/efeitos adversos , Ácido Valproico/uso terapêutico , SíndromeRESUMO
BACKGROUND: Myoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use. CASE PRESENTATION: We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first neurological visit at the age of 46 years old, she presented brief myoclonic jerks predominating in the upper limbs and neck, mild at rest and elicited by action, posture and tactile stimulus. Myoclonus was accompanied by mild neck and right arm dystonia. Neurophysiological tests suggested subcortical origin of myoclonus, brain MRI was unremarkable. Myoclonus-dystonia was diagnosed, and genetic testing identified a novel mutation in SGCE gene (c.907delC) in heterozygosis. Over time she assumed a large variety of anti-epileptics without beneficial effect on myoclonus and low tolerability. Add-on treatment with Perampanel was started, with a beneficial effect. No adverse events were reported. Perampanel is the first selective non-competitive AMPA receptor antagonist approved in add-on for focal and generalized tonic-clonic seizures. To our knowledge, this is the first trial of Perampanel in MD. CONCLUSIONS: We presented the case of a patient with MD due to SGCE mutation who was treated with Perampanel with beneficial effects. We propose Perampanel as a novel treatment for myoclonus in MD.
Assuntos
Distonia , Distúrbios Distônicos , Mioclonia , Feminino , Humanos , Criança , Pessoa de Meia-Idade , Distonia/complicações , Distonia/tratamento farmacológico , Distonia/diagnóstico , Mioclonia/complicações , Mioclonia/tratamento farmacológico , Mioclonia/genética , Distúrbios Distônicos/complicações , Distúrbios Distônicos/tratamento farmacológico , Distúrbios Distônicos/genética , Mutação/genéticaRESUMO
Epilepsy with eyelid myoclonia (EEM) is a generalized epilepsy syndrome with childhood-onset and 2:1 female predominance that consists of: 1. eyelid myoclonia with or without absence seizures, 2. eye closure induced seizures or EEG paroxysms, 3. clinical or EEG photosensitivity. While eyelid myoclonia is the disease hallmark, other seizure types, including absence seizures and generalized tonic-clonic seizures, may be present. It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, specific genetic mutations have been recognized in a minority patients, including in SYNGAP1, NEXMIF, RORB, and CHD2 genes. There are no randomized controlled trials in EEM, and the management literature is largely restricted to small retrospective studies. Broad-spectrum antiseizure medications such as valproate, levetiracetam, lamotrigine, and benzodiazepines are typically used. Seizures typically persist into adulthood, and drug-resistant epilepsy is reported in over 50%.
Assuntos
Epilepsia Tipo Ausência , Epilepsia Generalizada , Mioclonia , Humanos , Feminino , Criança , Masculino , Estudos Retrospectivos , Anticonvulsivantes/uso terapêutico , Epilepsia Generalizada/tratamento farmacológico , Convulsões/tratamento farmacológico , Mioclonia/tratamento farmacológico , Epilepsia Tipo Ausência/tratamento farmacológico , Pálpebras , EletroencefalografiaRESUMO
INTRODUCTION/AIM: Epilepsy is widely investigated as a common neurological disease requiring pharmacologically effective agents. N-acetyl cysteine (NAC), has become a remarkable molecule with its role in both antioxidant and glutaminergic modulation. There are many points and processes waiting to be revealed regarding the role of NAC in epilepsy. MATERIALS AND METHODS: Pentylenetetrazole (PTZ) was administered to induce seizures in a total number of 48 Sprague-Dawley rats. 35 mg/kg PTZ dose as a sub-convulsive dose was administered to 24 animals to monitor EEG changes, while 70 mg/kg PTZ dose which was a convulsive dose was administered to 24 animals to determine seizure-related behavioral changes with the Racine's scale. 30 min before the seizure-induced procedure, NAC was administered at doses of 300 and 600 mg/kg as pretreatment to investigate anti-seizure and anti-oxidative effects. The spike percentage, the stage of convulsion, and the onset time of the first myoclonic jerk were evaluated to determine the anti-seizure effect. Furthermore, its effect on oxidative stress was determined by measuring both malondialdehyde (MDA) level and superoxide dismutase (SOD) enzyme activity. RESULTS: There was a dose-dependent reduction in the seizure stage and prolonged onset time of the first myoclonic jerk in rats with NAC pretreatment. EEG recordings resulted in a dose-dependent decrease in spike percentages. Moreover, the same dose-dependent changes were observed in oxidative stress biomarkers, both 300 mg/kg NAC and 600 mg/kg decreased MDA levels and ameliorated SOD activity. CONCLUSION: We can report that 300 mg/kg and 600 mg/kg doses of NAC are promising with their reducing effect on convulsions and have a beneficial effect by preventing oxidative stress. In addition, NAC has been also determined that this effect is dose-dependent. Detailed and comparative studies are needed on the convulsion-reducing effect of NAC in epilepsy.
Assuntos
Epilepsia , Mioclonia , Ratos , Animais , Pentilenotetrazol/toxicidade , Ratos Sprague-Dawley , Mioclonia/tratamento farmacológico , Acetilcisteína/efeitos adversos , Eletroencefalografia , Epilepsia/tratamento farmacológico , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico , Superóxido Dismutase , Anticonvulsivantes/efeitos adversos , Modelos Animais de DoençasRESUMO
Familial adult myoclonus epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus, and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and an antimyoclonic effect, such as valproate, levetiracetam, benzodiazepines, and perampanel. However, these medications control seizures well while having a limited effect on myoclonus and cortical tremor. In addition, many ASMs, including sodium channel blockers and gabapentin, are contraindicated in this condition. The ideal therapeutic option would be a precision treatment able to revert the genetic defect underlying it. Nevertheless, this does not seem to be an option that will be available soon.
Assuntos
Epilepsias Mioclônicas , Epilepsia , Mioclonia , Adulto , Humanos , Mioclonia/tratamento farmacológico , Tremor/tratamento farmacológico , Epilepsia/tratamento farmacológico , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Ácido Valproico/uso terapêutico , Anticonvulsivantes/uso terapêuticoRESUMO
Epilepsy is a prevalent and frequently devastating neurological disorder defined by recurring spontaneous seizures caused by aberrant electrical activity in the brain. Over ten million people worldwide suffer from drug-resistant epilepsy. This severe condition requires novel treatment approaches. Both oxidative and nitrosative stress are thought to have a role in the etiology of epilepsy. Liraglutide is a glucagon-like peptide-1 (GLP-1) analogue that is used to treat type-2 diabetes mellitus. According to recent studies, Liraglutide also shows neuroprotective properties, improving memory retention and total hippocampus pyramidal neuronal population in mice. The purpose of this investigation was to determine the anti-seizure and anti-oxidative effects of liraglutide in a pentylenetetrazole (PTZ)-induced rat model of epilepsy. 48 rats were randomly assigned to two groups: those who had electroencephalography (EEG) recordings and those who underwent behavioral assessment. Rats received either intraperitoneal (IP) liraglutide at two different dosages (3-6 mg/kg) or a placebo, followed by pentylenetetrazole (IP). To determine if liraglutide has anti-seizure characteristics, we examined seizure activity in rats using EEG, the Racine convulsion scale (RCS), the time of first myoclonic jerk (FMJ), and MDA, SOD, TNF-α, IL-1ß and GAD-67 levels. The mean EEG spike wave percentage score was reduced from 75.8% (placebo) to 59.4% (lower-dose) and 41.5% (higher-dose). FMJ had increased from a mean of 70.6 s (placebo) to 181.2 s (lower-dose) and 205.2 s (higher-dose). RCS was reduced from a mean of 5.5 (placebo) to 2.7 (lower-dose) and 2.4 (higher-dose). Liraglutide (3 and 6 mg/kg i.p.) successfully decreased the spike percentages and RCS associated with PTZ induced epilepsy, as well as considerably decreased MDA, TNF-α, IL-1ß and elevated SOD, GAD-67 levels in rat brain. Liraglutide significantly decreased seizure activity at both dosages when compared to control, most likely due to its anti-oxidant and anti-inflammatory properties. The potential clinical role of liraglutide as an anti-seizure medication should be further explored.
Assuntos
Epilepsia , Mioclonia , Ratos , Camundongos , Animais , Pentilenotetrazol/toxicidade , Liraglutida/farmacologia , Liraglutida/uso terapêutico , Antioxidantes/efeitos adversos , Fator de Necrose Tumoral alfa , Epilepsia/tratamento farmacológico , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico , Mioclonia/tratamento farmacológico , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/uso terapêutico , Superóxido Dismutase , Anticonvulsivantes/uso terapêutico , Modelos Animais de DoençasRESUMO
Epilepsy is a disease which affects between 1 and 2% of the population, and a large proportion of these people do not react to currently available anticonvulsant medications, indicating the need for further research into novel pharmacological therapies. Numerous studies have demonstrated that oxidative stress and inflammation occur during epilepsy and may contribute to its development and progression, indicating higher levels of oxidative and inflammatory parameters in experimental models and clinical patients. This research aimed to assess the impact of diclofenac sodium, a nonsteroidal anti-inflammatory medicine, on seizure and levels of oxidative stress and inflammatory biomarkers in a rat model of epilepsy triggered by pentylenetetrazole (PTZ). 60 rats were randomly allocated to one of two groups: electroencephalography (EEG) recordings or behavioral evaluation. Rats received diclofenac sodium at three various doses (25, 50, and 75 mg/kg) intraperitoneally (IP) or a placebo, followed by intraperitoneal (IP) pentylenetetrazole, a powerful seizure-inducing medication. To investigate if diclofenac sodium had antiseizure properties, seizure activity in rats was evaluated using EEG recordings, the Racine convulsion scale (RCS) behaviour score, the duration of the first myoclonic jerk (FMJ), and the levels of MDA, TNF-α, and SOD. The average percentage of EEG spike waves decreased from 76.8% (placebo) to 64.1% (25 mg/kg diclofenac), 55.9% (50 mg/kg diclofenac), and 37.8% (75 mg/kg diclofenac). FMJ had increased from a mean of 58.8 s (placebo), to 93.6 s (25 mg/kg diclofenac), 185.8 s (50 mg/kg diclofenac) and 231.7 s (75 mg/kg diclofenac). RCS scores decreased from a mean score of 5.6 (placebo), to 3.75 (25 mg/kg diclofenac), 2.8 (50 mg/kg diclofenac) and 1.75 (75 mg/kg diclofenac). MDA levels reduced from 14.2 ng/gr (placebo) to 9.6 ng/gr (25 mg/kg diclofenac), 8.4 ng/gr (50 mg/kg diclofenac) and 5.1 ng/gr (75 mg/kg diclofenac). Likely, TNF-α levels decreased from 67.9 ng/gr (placebo) to 48.1 ng/gr (25 mg/kg diclofenac), 33.5 ng/gr (50 mg/kg diclofenac) and 21.3 ng/gr (75 mg/kg diclofenac). SOD levels, however, enhanced from 0.048 U/mg (placebo) to 0.055 U/mg (25 mg/kg diclofenac), 0.14 U/mg (50 mg/kg diclofenac), and 0.18 U/mg (75 mg/kg diclofenac). Diclofenac sodium (25, 50, and 75 mg/kg i.p.) effectively lowered the spike percentages and RCS scores linked with PTZ-induced epilepsy in rats, as well as significantly decreased MDA, TNF-α, IL-1ß, PGE2 and increased SOD levels. Probably as a result of its anti-oxidative and anti-inflammatory effects, diclofenac sodium dramatically lowered seizure activity at both doses compared to placebo control. Each of these results were significant, with p-values of < 0.01, < 0.05. Therefore, the therapeutic application diclofenac sodium as a potential anticonvulsant should be investigated further.
Assuntos
Epilepsia , Mioclonia , Ratos , Animais , Pentilenotetrazol/toxicidade , Diclofenaco/uso terapêutico , Anticonvulsivantes/efeitos adversos , Fator de Necrose Tumoral alfa , Ratos Sprague-Dawley , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico , Epilepsia/tratamento farmacológico , Mioclonia/tratamento farmacológico , Superóxido Dismutase , Modelos Animais de DoençasRESUMO
A 63-year-old man was diagnosed with Waldenström's macroglobulinemia (WM). Six courses of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone) resulted in complete remission, but WM relapsed three years after R-CHOP. After six courses of BR (bendamustine, rituximab), the serum IgM level and CRP normalized. Four years after BR, the patient presented with muscle weakness, sensory disturbance, and myoclonus of lower limbs. T2-weighted magnetic resonance imaging (MRI) showed areas of signal hyperintensity with contrast enhancement in the right temporal and parietal lobes in brain parenchyma, medulla, bilateral basal ganglia, white matter of occipital lobe, and thoracic spinal cord at the Th2-11 levels. Open brain biopsy revealed diffuse proliferation of small lymphocytes and plasmacytoid lymphocytes on the brain surface and around cerebral blood vessels, resulting in a diagnosis of Bing-Neel syndrome (BNS). Two courses of R-MPV (rituximab, methotrexate, procarbazine, and vincristine) resulted in progressive disease, but the neurological symptoms and MRI findings improved following craniospinal irradiation of 30.6 Gy. Three years after craniospinal irradiation, T2-weighted MRI showed recurrence of BNS with progression of myoclonus of lower limbs and IgM elevation. Tirabrutinib was started for the second recurrence of WM and progression of BNS. Two months after the initiation of treatment with tirabrutinib, the myoclonus of lower limbs disappeared and the MRI findings showed improvement. Serum IgM levels decreased and no adverse events were observed. Tirabrutinib shows promise as a therapeutic option for relapsed BNS.
Assuntos
Radiação Cranioespinal , Mioclonia , Macroglobulinemia de Waldenstrom , Humanos , Masculino , Pessoa de Meia-Idade , Cloridrato de Bendamustina , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Imidazóis , Imunoglobulina M/uso terapêutico , Metotrexato/efeitos adversos , Mioclonia/tratamento farmacológico , Prednisolona/uso terapêutico , Procarbazina , Pirimidinas , Rituximab/uso terapêutico , Vincristina/uso terapêutico , Macroglobulinemia de Waldenstrom/patologiaRESUMO
Epileptic myoclonus or myoclonic seizures can occur in idiopathic generalized epilepsy (IGE) and progressive myoclonus epilepsy (PME). However, symptomatic myoclonus which is stimulus-sensitive and provoked by movement is typically seen in PME and Lance-Adams syndrome. Symptomatic myoclonus is not always associated with epileptiform discharges on the electroencephalogram. Therapeutic interventions such as anti-seizure medications (ASMs), the ketogenic diet and vagus nerve stimulation are not always effective. There is emerging evidence that perampanel (PER), an α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, may be effective for the treatment of myoclonic seizures and symptomatic myoclonus. We performed a systematic review of the literature to assess the efficacy of PER as treatment for myoclonic seizures and symptomatic myoclonus. Twenty-seven studies with a total sample size of 260 patients were included. The efficacy of PER was analysed separately for myoclonic seizures and symptomatic myoclonus. In the group with myoclonic seizures, 50% responder, 75% responder and seizure freedom rates were reported as 74.3% (101/ 136), 60.3% (82/136) and 57.4% (78/136), respectively, with a follow-up duration of 6-12 months. However, in one post-hoc analysis of data from patients with IGE, the efficacy of PER as treatment for myoclonic seizures during the double-blind phase showed no significant difference compared to placebo. The efficacy of PER for symptomatic myoclonus was reported in a total of 119 patients. Four studies (n=88 patients) reported the efficacy of PER as a decrease in myoclonus score/scale. In the remaining 31 patients, symptomatic myoclonus resolved in three patients, decreased in 21 patients and seven patients showed no improvement. We also analysed the number of patients who were already on levetiracetam (LEV) or valproic acid (VPA) at the time of PER initiation; these data were available for 153 patients. Of these, 56.8% were on LEV and 75.1% were on VPA when PER was initiated. This systematic review suggests that PER maybe effective as treatment for drug-resistant myoclonic seizures and symptomatic myoclonus. It may also be effective in patients who have already failed to respond to LEV and VPA. These findings are preliminary yet encouraging. This study has several limitations, particularly given the scarcity of high-quality randomized controlled trials and marked heterogeneity regarding the type and results of the studies. Hence, the findings of this review should be viewed with considerable reservation.
Assuntos
Epilepsias Mioclônicas , Epilepsias Mioclônicas Progressivas , Mioclonia , Anticonvulsivantes/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsia Generalizada , Humanos , Imunoglobulina E/uso terapêutico , Levetiracetam/uso terapêutico , Epilepsias Mioclônicas Progressivas/tratamento farmacológico , Mioclonia/tratamento farmacológico , Nitrilas , Piridonas , Ensaios Clínicos Controlados Aleatórios como Assunto , Convulsões/tratamento farmacológico , Resultado do Tratamento , Ácido Valproico/uso terapêuticoRESUMO
Antimicrobial associated encephalopathy (AAE) is a well-documented, though under recognised, adverse event associated with antimicrobial use. Clinical manifestations of AAE are varied, ranging from myoclonus and seizure to an encephalopathy with cerebellar signs. The phenotypic presentation of the encephalopathy syndrome is, in general, governed by the antimicrobial in question. Given its apparent rarity in everyday clinical practice, awareness of AAE is crucial for physicians. We describe a reversible encephalopathy characterised by confusion, myoclonus and stupor in a 76 year old gentleman on antimicrobial therapy for a peri-rectal abscess.