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@#Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike–wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.
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Sotos Syndrome , CarbamazepineABSTRACT
Objective@#To study the effect of methylprednisolone shock therapy on electrical status epilepticus during sleep (ESES) in children and the changes of immune function before and after methylprednisolone shock therapy.@*Methods@#Thirty-five children hospitalized in pediatric neurology ward of Shengjing Hospital of China Medical University from October 2017 to October 2018 were selected, including 19 children with newly diagnosed temporal lobe epilepsy (TLE group) and 16 children with initial diagnosis of TLE with ESES (ESES group), and 21 healthy children in the same period were selected as normal control group.A total of 32 cases with ESES who were taken oral administration of more than 2 anti-epileptic drugs(AEDs)ineffective were given methylprednisolone shock treatment for 3 days.Changes of lymphocyte subsets and cytokines among groups were compared.@*Results@#The longer the course of disease, the worse the prognosis of children with ESES.Compared with normal control group, the NK cell activity were significantly lower in children of ESES group(P<0.05). The levels of IL-6 were higher in children of ESES group compared with that in children of TLE group, and there was significant difference between two groups(P<0.05). In children with ESES who had poor therapeutic effect of oral AEDs, the proportion of peripheral blood B lymphocytes increased after methylprednisolone shock treatment, and the proportion of T lymphocyte subsets and NK cells decreased, and the differences were statistically significant(P<0.05). The levels of IL-2, IL-4 and IL-10 were higher than those before treatment, the levels of IL-6, IL-17, INF-γ and TNF were lower than those before treatment, and the difference between the level of IL-6 before and after treatment was statistically significant(P<0.05). EEG spike waves index decreased significantly after treatment, some children′s growth and development and cognitive function improved, all children had no serious infection, high blood pressure, electrolyte imbalance and other adverse reactions.The correlation between therapeutic effect and changes of immune indexes was statistically significant in levels of NK cells(r=0.50, P<0.01), B lymphocytes (r=0.35, P=0.04) and IL-6(r=0.46, P=0.01), and all of them were positively correlated(P<0.05).@*Conclusion@#Children with ESES have immune dysfunction and may have excessive inactivation of NK cells and elevated levels of IL-6.Congenital immunity and adaptive immunity may play a role in the pathogenesis and pathophysiology of ESES syndrome.Methylprednisolone shock therapy could significantly reduce the non-rapid eye movement discharge index in children with ESES.The mechanism may be related to the significant decrease of IL-6 level.It may also be related to redistribution of lymphocyte subsets, affecting cell differentiation and balancing various cytokines.
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Epileptic electric sleep state (ESES) is a special electroencephalography model in sleep,which involves a variety of epilepsy syndromes.The state of electrical continuity is closely related to the neuropsychological damage in children,often leaving some degree of sequelae.Since the original description of the disease in 1971,there has been no clear consensus about its underlying etiology,pathophysiology,diagnostic criteria (peak percentage of slow wave sleep required) and optimal treatment regimens and prognosis.This review summarizes the progresses of the diagnosis and treatment of children with ESES in recent years.
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Objective To explore the therapeutic effects and adverse reaction of high-dose Diazepam (DZP) in patients with electrical status epilepticus during sleep (ESES).Methods Nine patients in the Outpatient of the Department of Pediatrics,Peking University First Hospital from October 2016 to May 2017 with ESES were treated with high-dose DZP.Oral DZP was administered in a dose of 0.75-1.00 mg/kg(maximum:40 mg) during the first night followed by 0.5 mg/(kg · d) (maximum:20 mg) from the second night for 1-3 months and tapered over next 1-3 months.The seizures,electroencephalogram (EEG) changes and adverse reactions were observed before and after DZP treatment.Results Six of 9 patients were male and 3 were female.The age of onset was ranged from 1 year and 6 months to 10 years.Benign childhood epilepsy with central temporal spike was diagnosed in 5 cases,epileptic encephalopathy with continuous spike-and-wave during sleep in 1 case,and ESES related epilepsy in 3 cases.Age of onset DZP treatment ranged from 4 years and 4 months to 12 years,and the duration of DZP treatment was ranged from 1 to 5 months (1 case only for the first night).The follow-up interval was 6-12 months.The efficiency of DZP on seizures:intent effective in 5 patients,effective in 2 patients and ineffective in 2 patients,and the effective rate was 78％ (7/9 cases).The efficiency of DZP on EEG (1 month after DZP treatment):intent effective in 2 patients (EEG normalized),effect in 3 patients and no effect in 2 patients,and the effective rate was 71％ (5/7 cases),while 2 patients did not receive EEG examination.Four of 7 patients (57％) with intent effect and effective of DZP on seizures had seizures relapse during drug reduction and after drug withdrawal,and the EEG deteriorated simultaneously.Adverse reactions of DZP included 3 patients (33％) with adverse reactions,bed-wetting in 2 patients and snoring on the first night in 1 patient who withdrew DZP later.Conclusions The high-dose of DZP has a certain effect on seizures control and ESES suppression in patients with ESES,but also has a certain recurrence rate.The adverse reactions are mild and self-limiting.High-dose DZP treatment could be a choice for refractory patients with ESES to alleviate disease.
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Electrical status epilepticus in sleep (ESES) indicates a special electroencephalographic pattern showing sleep-induced continuous paroxysmal discharges of spike-wave complexes.ESES can be seen in a series of epileptic syndromes in children characterized by seizures,ESES and cognitive impairment,including epilepsy with continuous spikes and waves during slow sleep,Landau Kleffner syndrome,typical and atypical benign childhood epilepsy with centro-temporal spikes.Though the mechanism generating ESES remains elusive,great advances in several aspects,such as genetic studies (GRIN2A,copy number variations,ect.),high-frequency oscillations and brain networks have been achieved.Treatment for ESES related disorders should focus on both epileptic seizures and ESES,and the introduction of appropriate antiepileptic drugs or other strategies like hormone therapy should be considered to furthest eliminate epileptic seizures and protect cognitive function.
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Objective To investigate the clinical effect of large dosage of Methylprednisolone on epilespy combined with electrical status epilepticus during sleep(ESES) in children.Methods Forty-six epielpsy patients with ESES were treated with additive large dosage of Methylprednisolone.The seizures and video electroencephalogram discharges were observed before and after using Methylprednisolone.The Methylprednisolone effect in eliminating the methylprednisolone of ESES and controlling of clinical seizures and improving cognitive function were analyzed.Results Two cases were lost and 44 cases were included,male 30,female 14,the age at onset was (5.37 ±2.52) (2-9) years old.The duration of follow-up was (4.12 ± 2.00)(1-9) years old.The age at diagnosis of ESES was (8.17 ± 2.09) (4.0-12.5) years old.The efficacy of Methylprednisolone on seizures was 72.7％ (32/44 cases),while the efficacy of Methyl prednisolone on electroencephalograph (EEG) was 59.1％ (26/44 cases).For patients who were resistant to Levetiracetam or Clonazepam,Methylprednisolone was still effective.Intelligence quotient had no significant changes before and after treatment(P ＞ 0.05).The earlier onset age,the worse effect of Methylprednisolone.The efficacy of methylprednisolone for atypical benign epilepsy with cento-temporal spike(BECT) was higher than other syndromes.Conclusions Large dosage of Methyl prednisolone therapy for children with ESES,especially for those resistant to traditional or new antiepileptic drug for ESES,was effective and safe.The onset age and syndrome classification may have a certain value for prognosis and prediction of the effect of Methylprednisolone treatment.
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Objective To investigate the effect of levetiracetam on benign childhood epilepsy with centro-temporal spikes(BECT) with early-electrical status epilepticus during sleep(ESES).Methods Since June 2010 to June 2013,35 cases of BECT with ESES were treated in our hospital.They were divided into two groups:early-ESES group and ESES group.The seizure rate and spike-wave index in different groups were observed before and after treatment.Intelligence quotient(IQ),response control quotient,attention quotient in different groups were compared before and after treatment.Results The seizure-free rate in earlyESES group was 55.00％,the total effective rate was 85.00％,EEG improvement rate was 60.00％.The seizure-free rate in ESES group was 26.67％,the total effective rate was 73.33％,EEG improvement rate was 46.67％.The seizure-free rate,total effective rate and EEG improvement rate in early-ESES group were higher than that in ESES group,but there were no statistically significant differences between two groups.The cognitive function (verbal IQ:90.29 ± 13.47 vs.83.97 ± 10.20; performance IQ:93.83 ± 11.12 vs.87.03 ± 11.15; full IQ:94.26 ± 10.96 vs.86.71 ± 11.29) and visual attention in both groups (response control quotient:100.77 ± 7.91 vs.87.40 ± 9.68 ; attention quotient:94.66 ± 7.22 vs.79.46 ± 12.52) were significantly improved after treatment(P ＜ 0.05,respectively).Conclusion Levetiracetarn is effective on BECT with ESES and early-ESES,especially on early-ESES.Levetiracetam maybe have a preventive effect on ESES.
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Objective To investigate the clinical and electroencephalogram (EEG) characteristics of children with electrical status cpilepticus during sleep (ESES), and the response to medication therapy. Methods AEEG and VEEG including an entire sleeping c-ycle were performed on 26 patients with ESES. The clinical and EEG changes, neuropsychological impairment and the response to medication therapy were followed up. Results Twenty five patients had seizures,21 cases had normal psychomotor development before ESES. After the onset of the disease,Fifteen cases developed language disorder, 16 cases developed psychological and behavior abnormalities, 13 cases had both of the problems Seventeen patients belonged to epileptic syndrome. Patients in this cohort had good response to clonazepam and valproate treatment. Cortical steroid could dispel the electrical discharge. Eighteen patients had been followed up. Seizures stopped in 15 cases after treatment ESES disappeared in 16 cases, 4 of them still had neuropsychological impairment ESES sustained in 2 cases Conclusions ESES is a specific EEG phenomenon. Continue epileptic form discharge during non - rapid cye movement sleep is the major cause of neuropsychological impairment in patients with ESES. To control the seizures and electrical state are very important for the prevention and treatment of neuropsychological impairment.