Focal Cortical Dysplasia with hippocampal sclerosis

ABSTRACT Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children. Live patients are diagnosed by radiological examination such as magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG PET), magnetoencephalography (MEG), diffusion-tensor imaging (DTI), and intracranial electroencephalogram (EEG). While some cases can be missed by radiological examination, they are usually diagnosed on the histopathological examination of the surgically removed specimens of medically intractable epilepsy patients. We report a case of a young girl with cerebral palsy, mental retardation, and seizure disorder who died in her sleep. The deceased was diagnosed with FCD type III with hippocampal sclerosis on histopathological examination at autopsy. H & E stain and NeuN immunohistochemistry neuronal cell marker were used to demonstrate the findings of FCD.

Three cases of febrile infection-related epilepsy syndrome / 中华实用儿科临床杂志

Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.

Research progress of febrile infection-related epilepsy syndrome / 中华实用儿科临床杂志

Febrile infection-related epilepsy syndrome is a rare and one of the most serious epileptic encepha-lopathy.It commonly affects school-aged children who are healthy previously and have a normal developmental history.The patients suffer from a progressively worse seizure after several days of a nonspecific prior febrile and abruptly develop status epilepticus.It remains unclear about its etiology and pathogenesis.Although there is a lack of specific biological markers, poor treatment outcomes would usually be achieved, early identification and reasonable treatment may improve the prognosis.

A Study to Evaluate the Clinical Profile of Patients with West Syndrome

Background: West Syndrome is an epilepsy syndromecomprising the triad of infantile spasms, an interictalelectroencephalogram (EEG) pattern termed hypsarrhythmiaand neurological regression. The aim of the present study tostudy the clinical profile of patients with West Syndrome.Materials and Methods: The present study was conductedamong 100 patients at B. J. Wadia Hospital for children, atertiary care teaching hospital at Parel, Mumbai over a periodof 18-24 months. Complete history was taken. Based onetiology West syndrome was classified as symptomatic (knownetiology) or cryptogenic (unknown etiology). Following tests willbe used to find correlation between different parameters withthe above outcome – one-way ANNOVA, unpaired t- test,Mean Whitney test, chi-square test and Kruskal Wallis.Results: In the present study total number of patients studiedincluded in the study were 100.The mean age at which patientswith infantile spasms presented to our hospital was 8.9 monthswhile the age of onset of spasms were 6 months. Male: Femaleratio was 3.5:1. Etiology of West syndrome was identified in74% children (Symptomatic) and 26% remained cryptogenicand idiopathic. The etiology of infantile spasms commonestbeing birth asphyxia (HIE) ;4 patients had history of meningitisin neonatal period; 2 were diagnosed with tuberous sclerosisand 4 with some brain deformity based on neuroimaging; and 1with TORCH infection. Frequency distribution of behaviourabnormalities and other evolving seizure types (over the followup years) among the patients was less.Conclusion: Our study concluded that Symptomatic WestSyndrome was the most common type, hypoxic ischaemicencephalopathy being the commonest etiology of it.

Consensus definition and development of new-onset refractory status epilepticus and the related syndromes / 中华实用儿科临床杂志

New-onset refractory status epilepticus(NORSE)is a clinical syndrome,not a specific diagnosis of diseases in patients with new onset of refractive status epilepticus without active epilepsy or other preexisting relevant neurological disorders and is not associated with a clearly acute or active structrue,toxic or metabolic cause. Febrile in-fection-related epilepsy syndrome(FIRES)is a subcategory of NORSE,applicable for all ages,occurring in a prior fe-brile infection starting between 24 hours and 2 weeks before onset of refractory status epilepticus( RSE)with fever or not. Proposed consensus definitions are also applicable for infantile hemiconvulsion - hemiplegia and epilepsy syn-drome,RSE,super-RSE,prolonged RSE and prolonged super-RSE. These consensus definitions will promote much more effective communication and multicenter research,and ultimately improve recognition and treatment of these condi-tions.

Consensus definition and development of new-onset refractory status epilepticus and the related syndromes / 中华实用儿科临床杂志

New-onset refractory status epilepticus(NORSE) is a clinical syndrome, not a specific diagnosis of diseases in patients with new onset of refractive status epilepticus without active epilepsy or other preexisting relevant neurological disorders and is not associated with a clearly acute or active structrue, toxic or metabolic cause.Febrile infection-related epilepsy syndrome(FIRES) is a subcategory of NORSE, applicable for all ages, occurring in a prior febrile infection starting between 24 hours and 2 weeks before onset of refractory status epilepticus(RSE) with fever or not.Proposed consensus definitions are also applicable for infantile hemiconvulsion-hemiplegia and epilepsy syndrome, RSE, super-RSE, prolonged RSE and prolonged super-RSE.These consensus definitions will promote much more effective communication and multicenter research, and ultimately improve recognition and treatment of these conditions.

Displasia cortical focal: hallazgos en imágenes de tensor de difusión

Objetivo: La displasia cortical focal (DCF) es una anomalía del desarrollo cortical. Representa una de las causas más frecuentes de epilepsia refractaria, siendo fundamental la resonancia magnética (RM) para su diagnóstico. Dada la importancia que ha cobrado la secuencia de tensor de difusión (DTI), el objetivo de este trabajo fue evaluar retrospectivamente los hallazgos en el mapa de fracción de anisotropía del DTI en pacientes con DCF. Observaciones: Se buscó retrospectivamente a pacientes con diagnóstico anatomopatológico de DCF en la base de datos de nuestro hospital. De un total de 74, se seleccionaron 8 casos con diagnóstico aislado de DCF y estudio de RM prequirúrgico con DTI. El foco de displasia se identificó en las imágenes anatómicas convencionales de la RM. Se evaluó el mapa de fracción de anisotropía (FA) y se definieron las alteraciones en la región de la DCF. Se observó una disminución de la FA en la sustancia blanca adyacente a la DCF en 7 de los 8 pacientes (87,5%). Discusión: Los hallazgos con el DTI brindan información complementaria en relación con la RM. En la mayoría de nuestros pacientes no hubo cambios de señal en la sustancia blanca en las imágenes convencionales, pero sí se identificó una disminución de la FAen el DTI. Se desconoce si esto refleja cambios estructurales o únicamente funcionales, secundarios a la lesión primaria. Creemos que el DTI puede agregar información complementaria de valor para el diagnóstico y valoración de la extensión de esta patología.

Objective: Focal cortical dysplasia (DCF) in an anomaly of cortical development. It represents one of the most frequent causes of drug resistant epilepsy and the magnetic resonance imaging (MRI) is trivial for its diagnosis. In the last years the use of diffusion tensor imaging (DTI) has increased in this kind of pathology. The purpose of this work was to evalúate retrospectively DTI findings on fractional anisotropy maps in patients with FCD. Observations: We retrospectively searched patients with confirmed anatomo-pathological diagnosis of FCD in our hospital datábase. From a total of 74, 8 patients, with isolated diagnosis of FCD and preoperative MRI with DTI, were selected. The FCD was identified in conventional anatomical MRI in all patients. Fractional anisotropy (FA) maps were evaluated and changes in the región of FCD were defined. Decreased FA was observed in white matter adjacent to the FCD, in 7 of 8 patients (87.5%). Discussion: Findings of DTI gives us complementary information to those of conventional MRI. Most of our patients showed no signal changes of white matter in conventional sequences and they presented decreased FA in DTI. We don't actually know if these DTI findings represent structural changes in white matter or just functional changes secondary to the adjacent FCD. We think DTI can give valuable complementary information for the diagnosis and determination of the extensión of this pathology.

Benign Infantile Seizures.

Background: Benign infantile seizures are a common form of idiopathic seizures in infants, but infrequently reported. Case characteristics: Four cases identified over a 9-month period. Observation: All had a cluster of focal seizures, normal development and no abnormality on hematological and biochemical work-up. Outcome: No recurrence of seizures over a follow-up of 5 to 9 months. Message: Identification of this syndrome has important therapeutic and prognostic implications.

Advances of febrile infection-related epilepsy syndrome / 国际儿科学杂志

The scholars abroad have reported a group of previously normal children,who develop intractable focal epilepsy or status epilepticus after fever,followed by drug-resistant partial epilepsy and severe cognitive impairment,named febrile infection-related epilepsy syndrome (FIRES).There are unknown etiology,critical condition,poor prognosis and absent of specific changes on cerebrospinal fluid,biopsies and neuroimagings.No therapeutic agent is efficacious and ketogenic diet may be an alternative therapy in some reports.This study describes the clinical characteristics of FIRES.

Teaching epilepsy according to the international classification of epilepsy and epilepsy syndrome in different level students / 中华医学教育探索杂志

In order to improve the quality of epilepsy teaching,the appropriate version of the international classification of epilepsy and epileptic syndrome were selected to teach in the different level students by the way of PBL and clinical case analysis.The clinical thoughts and enthusiasm were improved.The classification of epilepsy could be grasped and easily used in their clinical work.

Seizure Types and EEG Findings of Juvenile Onset Idiopathic Generalized Epilepsy

PURPOSE: Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy (ILAE). Although they differ in their predominant seizure types, the syndromes share several seizure types. Also, there are no unique electrophysiologic or genetic markers. The question of phenotypic overlap and purity have arison. METHODS: We diagnosed 60 patients as idiopathic generalized epilepsy in Seoul National University Children's Hospital from August 1987 to June 1993 were analyzed in aspects of seizure types, electroencephalographic findings and follow up results. Their onset age of seizure was over 8 year old and the follow-up period was minimum 3 year. RESULTS: 1) seizure types : Four groups were defined by seizure type. The group with absence but not myoclonic (group A) were 19 cases (31.7%) and the group with myoclonic but not absence (group B), 12 cases (20.0%), the group with absence and myoclnic (Group C), 4cases (6.7%), and the group with GTCS only (Group D), 25 cases (41.6%). There was a tendency in that absence begins earlier and myoclonic seizure later in each group. 2) epilepsy syndromes : We could classify as 20 cases (33.3%) of jevenile absence epilepsy, 15 cases (15%) of jevenile myoclonic epilepsy, 5 cases (8.4%) of epilepsy with generalized tonic clonic on awakening, and 20 cases (33.3%) of isolated generalized tonic clonic seizure. 3) EEG characteristics by seizure type : 3-4Hz generalized bursts were most frequent in group A (p<0.05) and polyspike discharges were more frequent in group B than group A (p<0.05). The response to photic stimulation were more frequently observed in group B than group A. There was no significant differences in response to hyperventilation between group A and B. CONCLUSION: To define the combination of seizure types occurred in intervals make easy to approach the diagnosis and treatment of idiopathic generalized epilepsy syndromes. We found that the current classification does not include all patients such as isolated generalized tonic clonic seizure in this study. We can expect information from the fields of molecular genetics and neuroimaging to help to define the etiologic basis of many epilepsies and perhaps to refine the present system of classification, more etiologically oriented and disease-specifically.

Clinical Characteristics and Diagnosis of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome / 实用儿科临床杂志

Objective To summarize the clinical characteristics and diagnosis of hemiconvulsion-hemiplegia-epilepsy(HHE) syndrome.Methods The clinical data of 5 children with HHE syndrome were analyzed.Cranial magnetic resonance imaging MRI and /or computerized tomography(CT) and electroencephalogram(EEG) were done in all patients.Results The age of onset was less than 4 years in 4 of 5 patients and initial seizures were associated with fever in 3 cases.The longest duration of convulsive seizures lasted more than 2 hours in all cases,followed by the appearance of hemiplegia involving the side of the body where the convulsions were localized.Subsequent epilepsy developed within 2 years of the hemiplegia in all 5 cases,with 4 cases simple partial seizure and 1 case psychomotor seizures.All cases had mental retardation.Cranial MRI showed left hippocampal sclerosis in 4 patients and CT brain scan showed right cerebral hemiatrophy in 1 case.The EEG showed abnormality in all patients.Epileptiform discharges were found in 4 cases,and the damage hemisphere showed slowing and low voltage of background activity in 1 case.All cases received mainly carbamazepine therapy,and the seizures were satisfactorily controlled or partly controlled.Conclusions HHE syndrome is recognized as hemiplegia-epilepsy syndrome after prolonged hemiconvulsion.The hippocampal sclerosis may be the consequence of repeated seizures,but not the cause.Better understanding of the syndrome,early and adequate treatment of prolonged seizures,especially of febrile convulsion,will reduce the incidence of HHE syndrome.