Epileptic Encephalopathy In Children Research Articles

Hemispherectomy with corpus callosotomy in pediatric Lennox Gastaut Syndrome associated encephalomalacia cyst: The first case in Indonesia


 
 
 Lennox-Gastaut syndrome (LGS) is a form of severe epileptic encephalopathy in children. LGS with encephalomalacia cysts is rare in children. We report a six-year-old mentally retarded boy who was referred for an intractable seizure. Seizures were tonic, atonic, and dialeptic in frequency. EEG showed generalized SSW discharges of 1.5-2 Hz, polyspikes, and burst suppression typical for LGS. Head MRI showed an encephalomalacia cyst in the right subcortical temporoparietal lobes with hemiatrophy in the right cerebral hemisphere. He was already treated with three antiepileptic drugs, but the seizures persisted. The patient was then performed right hemispherectomy and corpus callosotomy. It resulted in a good response. A combination of hemispherectomy and corpus callosotomy could be promising in this form of epilepsy disease. Seizure reduction was achieved and showed cognitive improvement and hemiparesis.
 
 

A case of Dravet syndrome with focal cortical myoclonus

BackgroundDravet syndrome (DS) is a severe epileptic encephalopathy in children dominated by polymorphic seizures. Focal cortical myoclonus indicated on conventional electroencephalogram (EEG) was rarely observed in DS.Case presentationThe child, boy, thirteen months old, suffered from clonic seizures during bathing at two months old. Later he suffered from recurrent afebrile or febrile generalized tonic–clonic seizures often developing into status epilepticus. A genetic analysis of the SCN1A gene revealed a de novo heterozygous frame shift mutation in exon 21(c.3836_c.3837del AT).His myoclonic jerks of unilateral arm occurred spontaneously in response to movement. A spike wave from right central-parietal cortex immediately preceded a left myoclonic muscle activity, while a spike wave from left immediately preceded a right myoclonic muscle activity. The onset of the detected spike preceded the onset of myoclonic muscle activity by 42 ms using jerk-locked back-averaging of electroencephalogram data. The focal cortical myoclonus was not noted when one year old.ConclusionsFocal cortical myoclonus could be a form of seizures during the first year of life in DS, which may broaden the types of seizures of DS and may provide some diagnostic clues for DS.

A Hybrid Expert System for Individualized Quantification of Electrical Status Epilepticus During Sleep Using Biogeography-Based Optimization

Electrical status epilepticus during sleep (ESES) is an epileptic encephalopathy in children with complex clinical manifestations. It is accompanied by specific electroencephalography (EEG) patterns of continuous spike and slow-waves. Quantifying such EEG patterns is critical to the diagnosis of ESES. While most of the existing automatic ESES quantification systems ignore the morphological variations of the signal as well as the individual variability among subjects. To address these issues, this paper presents a hybrid expert system that dedicates to mimicking the decision-making process of clinicians in ESES quantification by taking the morphological variations, individual variability, and medical knowledge into consideration. The proposed hybrid system not only offers a general scheme that could propel a semi-auto morphology analysis-based expert decision model to a fully automated ESES quantification with biogeography-based optimization (BBO), but also proposes a more precise individualized quantification system to involve the personalized characteristics by adopting an individualized parameters-selection framework. The feasibility and reliability of the proposed method are evaluated on a clinical dataset collected from twenty subjects at Children's Hospital of Fudan University, Shanghai, China. The estimation error for the individualized quantitative descriptor ESES is 0-4.32% and the average estimation error is 0.95% for all subjects. Experimental results show the presented system outperforms existing works and the individualized system significantly improves the performance of ESES quantification. The favorable results indicate that the proposed hybrid expert system for automatic ESES quantification is promising to support the diagnosis of ESES.

Fever-induced epileptic encephalopathy in children (FIRES)

Fever infection-related epilepticy syndrome, FIRES — rare severe epileptic encephalopathy infection or fever-induced refractory epileptic status developing in a previously healthy child. The etiology of FIRES remains unknown; post-inflammatory and autoimmune mechanisms are assumed. Recovery is possible, but the majority of children develop significant cognitive failure and refractory epilepsy.

Anatomical and physiological basis of continuous spike–wave of sleep syndrome after early thalamic lesions

ObjectiveEarly neonatal thalamic lesions account for about 14% of continuous spike–wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease. MethodsWe describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density electroencephalograms (EEGs) were performed, as well as detailed imaging and clinical evaluation. Visual evoked potentials were used to probe cortical excitability. ResultsThalamic volume loss ranged from 19% to 94%, predominantly on medial and dorsal nuclei and sparing the ventral thalamus. Lesions produced white matter loss and ventricle enlargement on the same hemisphere, which in four patients was associated with selective loss of thalamic-cortical fibers. Cortical thickness quantification failed to reveal hemispheric asymmetries. Impact on EEG rhythms was mild, with a volume-loss-related decrease in alpha power and preservation of sleep spindles. The sleep continuous spiking was lateralized to the hemisphere with the lesion. Visual cortex stimulation in five patients with posterior cortex spiking revealed an abnormal frequency-dependent excitability at 10–20Hz on the side of the lesion. SignificanceUnilateral selective thalamic-cortical disconnection is a common feature in our patients and is associated with both a focal pattern of CSWS and a pathological type of frequency-dependent excitability (peak: 10–20Hz). We propose that this excitability represents an abnormal synaptic plasticity previously described as the augmenting response. This synaptic plasticity has been described as absent in the corticocortical interactions in healthy experimental animals, emerging after ablation of the thalamus and producing a frequency-dependent potentiation with a peak at 10–20Hz. Because this response is potentiated by sleep states of reduced brainstem activation and by appropriate stimulating rhythms, such as sleep spindles, the simultaneous occurrence of these two factors in nonrapid-eye-movement sleep is proposed as an explanation for CSWS in our patients.

P 39 The genetic characteristics of epileptic encephalopathy in children

Relevance Disclosure of genetic aspects of epilepsy is necessary for a clear understanding of the etiology and pathogenesis of this disease, the search for new ways of correction. Objective to study the molecular and genetic aspects of epileptic encephalopathy and symptomatic epilepsy in children. Materials and methods We have analyzed 30 indicators of gene polymorphism SCN1A among 20 studied children with epileptic encephalopathy and 20 healthy children. Results Of the total sample of patients with epileptic encephalopathy in children (n = 20) polymorphism 3184 A-G met in the homozygous state (3184 ∗ A/ ∗ A) in 8 patients (40%) in the heterozygous state (3184 ∗ A/ ∗ G) - 11 (56%) and homozygous genotype (3184 ∗ G/ ∗ G) was identified in only 1 patient (4%). In healthy children (n = 20) polymorphism 3184 A-G met in the homozygous state (3184 ∗ A/ A) in 6 patients (60%) in the heterozygous state (3184 ∗ A/ ∗ G) - in 4 (40%). Conclusion Thus, considering all of the above it can be concluded mutations and polymorphisms in the gene SCN1A neuronal sodium channel leads to an increase in recovery time channel activity after inactivation and, as a consequence, provoke neuronal hyper excitability. We observed changes in the nucleotide sequence of the gene SCN1A that can make some contribution to the development of susceptibility to epileptic encephalopathy in children Uzbek nationality.

P 130 Indicators of EEG in epileptic encephalopathy in children

Relevance Epilepsy is one of the most urgent problems of paediatric neurology, because of behavioural, mental, neuropsychological impairments, the difficult diagnosis and curable of the disease, especially if there are non-trivial paroxysms. The frequency of childhood epilepsy is on foreign sources of 0.5–0.75% of the child population. International antiepileptic League recently in the classification of epileptic syndromes put term epileptic encephalopathy. Epileptic encephalopathy - a condition in which the epileptiform disturbances lead to progressive disorder of brain function. From a clinical point epileptic encephalopathy divided into 2 types: 1-type - occurs in children with epileptic syndromes, marked by progressive disorders of cognition, intelligence, speech and other cerebral functions. 2-type - is characterized by mental, cognitive, behavioural and social disorders in the absence of seizures. Purpose of the study Explore electroencephalographic features of the epileptic encephalopathy in children. Material and methods We studied 27 children aged 3–14 years who were hospitalized in the paediatric neurology clinic TashPMI, with a sharp mental retardation or gross psychomotor retardation. The study patients were divided into 2 groups. Clinical and neurological examination of children in group I - 15 children revealed diffuse focal neurological symptoms, marked an intellectual deficit. The history of these patients had generalized seizures and polymorphic. The EEG data from children revealed a giant amplitude sharply slow wave and spike wave dysrhythmia, hypsarrhythmia. Clinical and neurological examination of children of group II - 12 children, found no gross localized neurological disorders have been observed hyperactive type of behavior, the backlog in training at the school relative to their peers. In this subgroup of patients did not have a history of epileptic seizures. On the EEG data revealed a high amplitude and a constant stem dysrhythmia sharply slow wave dysrhythmia. In addition, these patients have a family history met “small” signs of epilepsy. Children in both groups were appointed by anticonvulsant drugs. The treatment of children have improved somewhat cognitive function. Conclusion This study demonstrates the importance of neurophysiological research methods for children with retarded mental and psychomotor development in order to eliminate or timely diagnosis and treatment of this disease.

P182 – 2399: Epileptic encephalopathy due to progressive severe hardly curable epilepsy forms in children with extremely low birth weight and very low birth weight

Objective Study of progressive epileptic encephalopathy at destructive epilepsy forms in small premature infants. Methods 5-years clinical-paraclinical (brain MRI, 24-hour Holter and video EEG monitoring) examination of 103 children with extremely low birth weight and 108 children with very low birth weight (ELBW and VLBW) with epileptic encephalopathy in the form of behavior and progressive dementia developed due to age-dependent epilepsy form who are primarily resistant to antiepileptic drugs. Results Rate of severe epileptic encephalopathy in children with ELBW and VLBW was 15% and 11% correspondingly at early infantile encephalopathy with suppressive-explosive pattern at EEG (Othahara syndrome); 9% and 6% at severe epilepsy with multiple independent spike focuses (Markand-Blume-Othahara syndrome); 6% and 4% at malignant migrating partial seizures at infancy (MMPSI). At epilepsy onset epileptic encephalopathy developed in 3% and 2% of children with ELBW and VLBW after 1 year of life at Doose syndrome; 5% and 3% at Lennox-Gastaut syndrome; 4% and 2% at hemiconvulsive seizures and hemiplegia syndrome provoked by hyperthermia; 5% and 4% at destructive epileptic encephalopathy in school-aged children caused by hyperthermia (FIRES-syndrome); 3% and 2% at Landau-Kleffner syndrome (acquired epileptic aphasia). Cognitive epileptiform disintegration with epileptic activity at EEG and without epileptic attacks occurred in 5% and 3% of children correspondingly. Often hyperthermia was the marker of life-threatening epileptic status occurrence in small premature infants – 10 to 100 per day. Primarily these epilepsy forms were resistant, rapidly transferred to epileptic encephalopathy. Conclusion Often cerebral pathology in small premature infants causes development of early destructive epileptic encephalopathy. Hyperthermia promotes to febrile-provoked epilepsy development at which infant psychic disorder progresses and dementia increases.

P18 – 2422: The incidence of epileptic encephalopathy in children from birth up to 5 years old in Kazakhstan

Objective To detect the incidence of epileptic encephalopathy in children from birth up to 5 years old by the data of the tertiary care center in the Republic of Kazakhstan. Methods The data from medical records of patients undergoing diagnosis and treatment in children's neurology department of “National Research Center for Maternal and Child health” in the period 2013–2014. There are 450 epilepsy patients among 1404 who passed the treatment at the Department. At 170 of them were diagnosed an epileptic encephalopathy. Electronic Excel database created for all patients. The diagnosis was confirmed by the date after neurological examination, EEG-video monitoring, MRI of the brain. The effectiveness of the treatment assessed by seizure-diary. Results We detected 32% epileptic children among all patients at the Department. 12% of all patients were with epileptic encephalopathy. The epileptic encephalopathy consists of West syndrome (15.9%), LGS (14.1%), Dravet syndrome (1.8%), Otahara syndrome (1.2%) and early myoclonic encephalopathy (1.2%). The results of the analysis were used to determine the frequency of drug-resistant forms. So the result of analysis was shown us that at 7, 7% were detected pseudo resistance for AED due to mistreatment. Conclusion The results of the analysis lead to the conclusion that the main risk factors for epileptic encephalopathy in children were hypoxic disorder or malformation of the brain. Also in many resistant form was detected a wrong selection of therapy

P44 – 2863: Clinical and radiological factors associated with later occurence of epilepsy and epileptic encephalopathy after hypoxic ischemic insult

Objective Epileptic encephalopathy is a devastating type of epilepsy in early life causing severe cognitive and behavioral impairments. Epilepsy and epileptic encephalopathies may be complications of hypoxic ischemic encephalopathy during the neonatal period. Methods In this retrospective study 60 patients who suffered hypoxic ischemic encephalopathy in the neonatal period; aged 6.75±5.34 (0.30–12.09) years, 28 girls (46.7%) and 32 boys (53.3%) were invastigated to describe clinical and radiological factors associated with later occurence of epilepsy and epileptic encephalopathy were divided in 3 groups. Group 1: Patients with epileptic encephalopathy (n: 27 (%45) Group 2: Patients with epilepsy without encephalopathy (n: 18 (%30). Group 3: Patient without epilepsy and epileptic encephalopathy (n:15 (%25). Groups were compared for prenatal, natal and postnatal insults, neonatal seizures, cranial USG, electroencephalography (EEG) in neonatal period and cranial Magnetic Resonance Imagination (MRI). Results Gestational ages and birth weights of group 3 were lower then Group 1 and Group 2 (p Conclusion Higher asphyxia grades, neonatal menengitis and sepsis, cortical impairment in cranial MRI, seizures in the neonatal period are high risk factors for evaluation of epilepsy and epileptic encephalopathy in children suffered from HIE in neonatal period.

Epileptic Encephalopathy in Children with Risk Factors for Brain Damage

In the study of 887 new born infants with prenatal and perinatal risk factors for brain damage, 11 children with West syndrome that progressed into Lennox-Gastaut syndrome and another 4 children with Lennox-Gastaut syndrome that had not been preceded by West syndrome were found. In this study we present the main findings of these 15 subjects. In all infants multifactor antecedents were detected. The most frequent risk factors were prematurity and severe asphyxia; however placenta disorders, sepsis, and hyperbilirubinemia were also frequent. In all infants MRI direct or secondary features of periventricular leukomalacia were observed. Followup of all infants showed moderate to severe neurodevelopmental delay as well as cerebral palsy. It is concluded that prenatal and perinatal risk factors for brain damage are very important antecedents that should be taken into account to follow up those infants from an early age in order to detect and treat as early as possible an epileptic encephalopathy.