epilepsy

摘要： Dysfunction of neuronal nitric oxide synthase contributes to neurotoxicity,which triggers cell death in various neuropathological diseases,including epilepsy.Studies have shown that inhibition of neuronal nitric oxide synthase activity increases the epilepsy threshold,that is,has an anticonvulsant effect.However,the exact role and potential mechanism of neuronal nitric oxide synthase in seizures are still unclear.In this study,we performed RNA sequencing,functional enrichment analysis,and weighted gene coexpression network analysis of the hippocampus of tremor rats,a rat model of genetic epilepsy.We found damaged hippocampal mitochondria and abnormal succinate dehydrogenase level and Na+-K+-ATPase activity.In addition,we used a pilocarpine-induced N2a cell model to mimic epileptic injury.After application of neuronal nitric oxide synthase inhibitor 7-nitroindazole,changes in malondialdehyde,lactate dehydrogenase and superoxide dismutase,which are associated with oxidative stress,were reversed,and the increase in reactive oxygen species level was reversed by 7-nitroindazole or reactive oxygen species inhibitor N-acetylcysteine.Application of 7-nitroindazole or N-acetylcysteine downregulated the expression of caspase-3 and cytochrome c and reversed the apoptosis of epileptic cells.Furthermore,7-nitroindazole or N-acetylcysteine downregulated the abnormally high expression of NLRP3,gasdermin-D,interleukin-1βand interleukin-18.This indicated that 7-nitroindazole and N-acetylcysteine each reversed epileptic cell death.Taken together,our findings suggest that the neuronal nitric oxide synthase/reactive oxygen species pathway is involved in pyroptosis of epileptic cells,and inhibiting neuronal nitric oxide synthase activity or its induced oxidative stress may play a neuroprotective role in epilepsy.

摘要： The propensity of neuronal stem cells to aggregate is well established.Aggregation of differentiated neurons,particularly those of the brain regions such as the cortex,has been reported more recently(Hasan et al.,2019;Ming et al.,2020).However,the tendency of these cells to aggregate may play a significant role in the brain’s response to injury,and may also be important in developing regenerative therapies to treat brain injury.Some types of injury,including stroke and trauma,result in formation of liquid-filled cavities in the brain(Kazim et al.,2011;Moreau et al.,2012).Cavities are also produced by resection surgery in patients suffering from epilepsy or by surgical brain tumor removal.Brain cavitation represents a loss of neural circuitry and therefore leads to deficits in function and behavior.

摘要： We present a case of ictal asystole in an 81-year-old female, with no prior history of epileptic activity, or cardiac history suggestive of arrhythmia, who suffered several seemingly unrelated epileptic and asystolic episodes prior to finally having a witnessed seizure followed by an asystolic event. Following this event, all atrioventricular (AV) nodal blockers, and medications with potential seizure threshold lowering activity were stopped, and anti-epileptic medication was optimized. Due to the wishes of the patient’s family, no invasive interventions were pursued.However, the patient continued to be medically treated with anti-epileptic therapy and had no further asystolic events. Unfortunately, the patient’s overall clinical status deteriorated, and she subsequently passed during her hospital stay after being made do not resuscitate and do not intubate (DNR/DNI) by the family and then subsequently comfort care. Prior to her passing, however, she had remained free of epileptic events for 10 days and free of asystolic events for 21 days.

摘要： BACKGROUND Convulsive-like movements are rare in basilar artery occlusive cerebral infarction(BAOCI).These manifestations may easily be mistaken for epileptic seizures caused by compromised anterior circulation or by cortical lesions.Delayed diagnosis of this condition affects its subsequent treatment and prognosis.Therefore,it is critical to recognize this type of phenomenon in the early stage.CASE SUMMARY A 55-year-old male patient presented with unconsciousness,rigidity,and a paroxysmal twitch in both lower limbs.These conditions lasted for nearly 2 h and resembled status epilepticus.After the initial conditions subsided,hemiplegia occurred and then subsided rapidly.The family refused thrombolytic therapy because the symptoms were similar to Todd paralysis after epilepsy.However,magnetic resonance imaging showed left pontine infarction.No abnormality was observed in a video electroencephalogram during the interictal period.Digital subtraction angiography revealed that the basilar artery was occluded and that the posterior communicating arteries were patent.Fortunately,the patient received a good prognosis after antiplatelet therapy,lipid regulation,balloon dilatation of the basilar artery,and rehabilitation.CONCLUSION Convulsive-like movements may be an early sign of basilar artery occlusive brainstem infarction.It is important to identify this phenomenon in a timely manner.

摘要： BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.

摘要： Zika virus (ZIKV) is a flavivirus that can be identified as a small envelope with a positive-stranded RNA and an important medical pathogen, which causes deadly human diseases. The virus is carried by Aedes aegypti mosquitoes through a blood meal and it is also spread through body fluids. ZIKV infection may present with symptoms like fever, myalgia, maculopapular rash as well as neurological sequelae, which include, microcephaly, epilepsy, and Guillain Barré syndrome (GBS). This put the virus on a scale of the public health burden of almost 87 countries. The potential threat of ZIKV infection is not completely eradicated in many countries in Africa, America, and the Western Pacific regions. There are no vaccines and treatments available to date. Since ZIKV causes microcephaly in utero by targeting neural progenitor cells, inducing apoptosis, and impairing neurodevelopment, this article hopes to evaluate the neurological disorders associated with the Zika virus infection while elucidating the current trends in the development of vaccines and drugs.

摘要： Introduction: Cerebral palsy is the most common motor disorder of childhood according to the Center for Disease Control and Prevention (CDC). It is much more common in premature infants. The majority of fixed organic lesions occur during the development of the central nervous system. Objective: To study the epidemiological, clinical, paraclinical and prognostic profile of children aged 0 to 5 years with Cerebral Palsy (CP) seen in consultation in the medical neurology department of the National Hospital of Niamey. Methods: This was a transverse descriptive study with prospective collection of patient records (0 - 5 years) over a 6-month period. Results: During our study, 100 children aged 0 to 5 years had to be consulted. The prevalence was 61%. 62.3% of patients were male. The mean age was 2.01 years. The majority of the patients were from the urban area (63.93%). Almost half of the mothers had no schooling. 4.92% of patients were from consanguineous marriages. Pregnancies were monitored with at least 4 prenatal visit in 86.98% of cases and 83.61% of children were born at term. In 75.41% of cases, patients were born by eutocic delivery. In 36.07% of cases, the patients were resuscitated at birth. Fetal distress was present in 29.5%. Seizures were present in 49.18% of the patients of which 50% were generalized. Tonicity was not good in 35.15% and among them 52.63% had hypertonia. 18.03% of patients had a motor deficit. For 34.43% of the patients the first nerve was affected, followed by the third nerve with 13.11%. 65.57% of the patients had fixed retardation and for 78.69% of the patients the retardation was homogeneous. Neuromalaria, meningitis and hydrocephalus were the most incriminated causes of delay in 63.51%, 19.67% and 18.03% of cases respectively. Anticonvulsants and psychoanaleptics were the most used in 49.18% and 32.79% of cases respectively. 32.79% of patients had received motor rehabilitation. All mothers had received psychotherapy. Conclusion: Cerebral palsy (CP) is a pathology that is gaining ground and whose management is multidisciplinary. However, preventive measures are quite effective to limit the risks of their occurrence.

摘要： Epilepsy is a common neurological disorder in neurology clinic. Levetiracetam is considered as one of common antiepileptic drugs used to manage epilepsy with good efficacy and tolerability profile. It is renally excreted and not depending on the cytochrome p450. It has adverse effects reported as somnolence, headaches, dizziness, depression and anxiety. Also, it was reported that levetiracetam can cause Acute kidney injury (AKI), renal profile disturbance, that may be related to its way of excretion and possible nephrotoxicity especially with high loading dose. We are reporting a young female patient with epilepsy presented to hospital with status epileptcus and started on loading dose of levetiracetam 3 grams and then maintenance dose of 1 gram twice daily seizure were controlled but she developed acute kidney injury that improved after discontinue leveriracetam and medical management without renal dialysis and discharged home in stable condition. Physician and health care providers should be aware of such rare adverse reaction and available management options for better patient care and outcome.

摘要： BACKGROUND Lissencephaly(LIS)is a malformation of cortical development with broad gyri,shallow sulci and thickened cortex characterized by developmental delays and seizures.Currently,20 genes have been implicated in LIS.However,GRP56-related LIS has never been reported.GRP56 is considered one of the causative genes for bilateral frontoparietal polymicrogyria.Here,we report a twin infant with LIS and review the relevant literature.The twins both carried the novel compound heterozygous GPR56 mutations.CASE SUMMARY A 5-mo-old female infant was hospitalized due to repeated convulsions for 1 d.The patient had a flat head deformity that manifested as developmental delays and a sudden onset of generalized tonic-clonic seizures at 5 mo without any causes.The electroencephalography was normal.Brain magnetic resonance imaging revealed a simple brain structure with widened and thickened gyri and shallow sulci.The white matter of the brain was significantly reduced.Patchy long T1 and T2 signals could be seen around the ventricles,which were expanded,and the extracerebral space was widened.Genetic testing confirmed that the patient carried the GPR56 gene compound heterozygous mutations c.228delC(p.F76fs)and c.1820_1821delAT(p.H607fs).The unaffected father carried a heterozygous c.1820_1821delAT mutation,and the unaffected mother carried a heterozygous c.228delC mutation.The twin sister carried the same mutations as the proband.The patient was diagnosed with LIS.CONCLUSION This is the first case report of LIS that is likely caused by mutations of the GPR56 gene.

摘要： Epilepsy is a leading neurological condition characterized by recurrent seizures and affecting more than 50 million people worldwide. Status epilepticus (SE) is a neurological emergency associated with a high mortality rate and long-term cognitive sequelae. In pregnancy, status epilepticus poses a tremendous threat to both mother and fetus. We report a case of status epilepticus in pregnancy complicated by coma, where obstetrical ultrasound revealed fetal demise in utero followed by rapid maternal deterioration and demise later. There was management challenge of a comatose pregnant mother in very poor and deteriorating hemodynamic state with fetal demise in a low economic and limited resource setting.