Background Atypical electroencephalogram (EEG) abnormalities emerge in patients with subacute sclerosing panencephalitis (SSPE), especially in cases with an atypical clinical presentation that can lead to diagnostic difficulties. Case Report In this article, we presented a case of SSPE with an atypical onset with epileptic seizures and Parkinson's features. The neurological examination during the initial evaluation of the patient showed extrapyramidal syndrome, hyperreflexia, intention tremor, and dysmetria. Cranial magnetic resonance imaging was normal. Video EEGs were performed in wakefulness and sleep. In wakefulness, multiple brief seizures (1–1.5 seconds were recorded, consisting of gradual bending of the body forward and to the right that lacked the sudden characteristic of myoclonia. During those episodes, we recorded generalized epileptiform activity of 4 or 5 sharp waves, with higher amplitude in the anterior regions, in some of the paroxysms superimposed on a slow wave or followed by a high amplitude slow wave. The paroxysms appeared periodically every 15 to 30 seconds. However, 2 months later, the EEG showed typical periodic generalized activity of biphasic/triphasic slow waves (Radermecker complexes), accompanied by myoclonias. Conclusion We reported a peculiar EEG pattern in a patient with SSPE that consists of periodic generalized activity of sharp waves. Atypical EEG patterns can appear when the disease progresses, but initially too, before typical periodic complexes and can complicate the diagnostic process.

Epilepsy is common in children with cerebral palsy (CP). In a group of 521 children with cerebral palsy it was found that 58% (n = 303) of the affected had epilepsy and 74.5% (n = 388) had mental retardation. We found ahigher percentage of symptomatic epilepsy in a combination of CP with mental retardation – 84.2% (n = 255), while only 15.8% (n = 48) of children with normal intellect had epilepsy. In our CP patients, the focal seizures were the most common – 34.7% (n = 181), followed by the secondary generalized 29.6% (n = 154) and the generalized seizures (tonic, clonic and generalized tonicclonic) 25.3% (n = 132), most often with early onset, with 43.5% (n = 132) of them with onset in the first year of life. The earlier onset of the epileptic seizures correlated with a more severe mental retardation. We found that symptomatic epilepsy and severe mental retardation are most common in children with spastic quadriparesis.

Purpose Pathogenic SCN8A variants are associated with a wide spectrum of clinical presentation, ranging from mild to severe epileptic phenotypes, cases of intellectual disability, or movement disorders without epilepsy. Ataxia and cerebellar atrophy are rarely described as components of the disease phenotype. Case Presentation We present the cases of male twins, born after normal pregnancy and delivery, both with normal neuropsychological but with delayed motor development in the first 2 years of life. Between 8 months and 9 years of age, the boys experienced generalized tonic-clonic seizures, several times per year. When 9 years old, the children suffered an increase in seizure frequency, and the family reported gradual worsening in coordination, speech, communication, and social skills. When 9 and a half years of age, the patients were admitted to the Clinic of Child Neurology for the first time. They both had coordination syndrome (intention tremor, dysmetria, dysdiadochokinesia) that had worsened compared with previous reports, and magnetic resonance imaging of the brain showed cerebellar atrophy. The genetic testing confirmed a mutation c.2617G > T, p.Gly873Cys in SCN8A gene. After adding lamotrigine to valproate and levetiracetam, and adjusting the dosage of valproate and levetiracetam, we observed good seizure control accompanied by improvement in the coordination syndrome. Conclusion The cerebellar atrophy in our patients is likely due to the underlying sodium channelopathy, as it was presented at the time of the seizure worsening, but we cannot exclude the role of the epileptic seizures as the worsening of the coordination syndrome accompanied the seizure aggravation, and the tendency toward improvement was evident after seizure control.

Епилептичните енцефалопатии се дефинират като фамакорезистентни епилепсии, при които пристъпите и/или ЕЕГ разрядите увреждат невро-психичното развитие и когнитивните функции. Eнцефалопатиите на развитието протичат със забавено нервно-психично развитие или интелектуален дефицит, обусловен от непрогресираща мозъчна увреда, съчетано или не с епилепсия като при тях неврокогнитивният и поведенчески дефицит остава, независимо от контролирането на епилепсията Нова концепция за енцефалопатите на развитието и за епилептичните енцефалопатии е, че епилепсията и забавеното развитие са две състояния с обща етиология (структурни или генетични причини), при което агресивното антиепилептично лечение е необходимо. Епипептичните енцефалопатии се дефинират като процес на неврологична увреда, причинен от епилептичната активност с вариабилен потенциал за лечение. Епилептичната активност въздейства на неврогенезата, синаптогенезата нормалната организация на невроналните мрежи, тригерира невровъзпаление, с възможни патофизиологични механизми за невронална увреда. Според възрастта на изява епилептичните енцефалопатии са: ранни инфантилни (синдром н а O tahara, с индром с епилептични инфантилни спазми или синдром на West, мигриращи фокални пристъпи, синдром на Dravet) и късни (синдром на Lennox-Gastaut, епилептични енцефалопатии с острие – бавна вълна активация в сън, синдром на Landau Kleffner, атипична бенигнена фокална епилепсия в детството, хемиконвулсия- хeмиплегия синдром, епилептичен синдром свързан с фебрилни инфекции; С начало в различна възраст са епилептични синдроми с прогресивни неврологични увреди, синдром на Rasmussen, прогресивна миоклонична епилепсия, Фебрилно-инфекциозно свързани епилептични синдроми. При тях непрекъснатата епилептична активност или честите епилептични пристъпи обуславят когнитивен регрес. Неврокогнитивните и поведенчески отклонения могат да се подобрят при контрол на епилептичните пристъпи редукция на интерикталната епилептична активност. Своевременното диагностициране на епилептичните енцефалопатии при познание на основните им клинични характеристики, особено на синдрома на Lennox-Gastaut и на Dravet и ранното им лечение подобрява тяхната прогноза. Терапевтичнитe подходи за лечението на епилептичните енцефалопатии са с монотерапия и последваща рационална политерапия включително с нови антигърчови лекарства (АГЛ). Представя се информация за диагностицирането, клиничната характеристика и съвременно лечение на синдрома на Lennox-Gastaut и на Dravet.

Background The efforts of clinicians are focused on determining the predictors for electrical status epilepticus in sleep (ESES) manifestation, due to the negative effect of ESES on cognition. Treatment approaches remain a leading problem because of therapeutic resistance. Objective We looked for potential risk factors for ESES manifestation and summarize the clinical course and therapeutic approaches in patients with idiopathic and symptomatic ESES. Patients and Methods We retrospectively reviewed the medical data of 51 children with idiopathic ESES and 20 children with symptomatic ESES. Results We observed an earlier age of seizure onset (p = 0.0002) and a higher percentage of cases with multiple seizures (p < 0.00001) and with postictal paralysis (p < 0.00001) in idiopathic ESES compared with childhood epilepsy with centrotemporal spikes. In the idiopathic ESES, the treatment consisted of corticosteroids in patients with permanent ESES remission and transient remission, levetiracetam (LEV) children with permanent ESES remission and transient, clonazepam (CZP) children with permanent ESES remission and transient, ethosuximide (ESM), and sulthiame. The patients with symptomatic ESES had more unfavorable evolution, as 19 children had persistent or relapsing ESES course. Conclusion We consider the earlier age of seizure onset (below 5 years) and the presence of multiple seizures and postictal paresis as risk factors for ESES manifestation. ESES is characterized by a significant therapeutic resistance, especially in the group of symptomatic cases. Good results are observed with LEV, ESM, CZP, and steroids.

Neuroimaging plays a key role in the diagnosis of cerebral palsy (CP), as it helps to understand the etiology and pathogenesis of neurological impairment. The aim of the study is to demonstrate the role of neuroimaging in assessing the risk for epilepsy in children with CP with various lesions in CT and MRI with a focus on neuroimaging findings in full-term and premature children and their risk for epilepsy. The study includes 521 children with CP, diagnosed in the Clinic of Child Neurology, UMHATNP “St. Naum” between 2008 and 2018. Two hundred and twenty children underwent MRI of the brain, 464 of the cases had CT, and 127 had both MRI and CT. Various pathological lesions in MRI (brain malformations, lesions in the white or gray matter, lesions in the basal ganglia, cystic lesions, cortical atrophy, ventriculomegaly) were found in all patients with CP and symptomatic epilepsy, while 5.8% of those children with CP without epilepsy had normal MRI. Normal findings were observed in CT in 7.5% of the children with CP and epilepsy, while this result reached 12.1% when children did not have epilepsy. Among the abnormal findings in MRI with the highest relative risk for symptomatic epilepsy were ventriculomegaly RR – 1.296 (95% CI 1.149–1.463), cortical atrophy RR – 1.235 (95% CI 1.082–1.410) and lesions in the gray matter RR – 1.210 (95% CI 1.056–1.387). When comparing the types of the lesions in MRI in full-term and premature children with CP, we observed that white matter lesions predominated in premature children, while grey matter lesions in full-term children, which explains the higher incidence of epilepsy in full-term children. We found a higher incidence of pathological lesions in neuroimaging studies in patients with CP and concomitant epilepsy compared to those without epilepsy, as well as a high relative risk for epilepsy in patients with ventriculomegaly, cortical atrophy, and gray matter lesions.