scholarly journals Ohtahara syndrome: Early infantile epileptic encephalopathy

2008 ◽  
Vol 61 (11-12) ◽  
pp. 581-585 ◽  
Author(s):  
Marija Knezevic-Pogancev
Keyword(s):  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
Psychomotor Development ◽  
Seizure Type ◽  
Epileptic Spasms ◽  
Ohtahara Syndrome ◽  
Initial Stage ◽  
Interictal Eeg ◽  
Severe Retardation ◽  
Tonic Spasms

DEFINITION Ohtahara syndrome (early infantile epileptic encephalopathy with suppression bursts), is the earliest developing form of epileptic encephalopathy. ETHIOLOGY It considered to be a result of static structural developing brain damage. CLINICAL PICTURE Variable seizures develop mostly within the first 10 days of life, but may occur during the first hour after delivery. The most frequently observed seizure type are epileptic spasms, which may be either generalized and symmetrical or lateralized. The tonic spasms may occur in clusters or singly, while awake and during sleep alike. The duration of spasms is up to 10 seconds, and the interval between spasms within cluster ranges from 9 to 15 seconds. In one third of cases, other seizure types include partial motor seizures or hemiconvulsions The disorder takes a progressively deteriorating course with increasing frequency of seizures and severe retardation of psychomotor development. DIAGNOSTIC WORKUP In the initial stage of Ohtahara syndrome, interictal EEG shows a pattern of suppression-burst with high-voltage paroxysmal discharges separated by prolonged periods of nearly flat tracing that last for up to 18 seconds. PROGNOSIS AND THREATMENT Half of the reported children having Ohtahara syndrome die in infancy. Anticonvulsant helps little in controlling the seizures and halting the deterioration of psychomotor development. Severe psychomotor retardation is the rule. With time, the disorder may evolve into West syndrome or partial epilepsy. Psychomotor development may be slightly better if the infants do not develop West and later Lennox-Gastaut syndrome.

scholarly journals Evaluation of psycho-motor development in children with West syndrome

2012 ◽  
Vol 140 (5-6) ◽  
pp. 278-284 ◽  
Author(s):  
Dimitrije Nikolic ◽  
Petar Ivanovski ◽  
Dragana Bogicevic ◽  
Nikola Dimitrijevic ◽  
Ivan Milovanovic ◽  
...  
Keyword(s):  
Motor Development ◽  
Epileptic Encephalopathy ◽  
West Syndrome ◽  
Psychomotor Development ◽  
Seizure Type ◽  
Age Related ◽  
Psychological Examination ◽  
Developmental Index ◽  
Age Range

Introduction. West Syndrome (WS) is age-related epileptic encephalopathy characterised by a triad of symptoms: specific seizure type, pathognomonic electroencephalographic (EEG) pattern - hypsarrhythmia and delay and/or regression in psychomotor development (PMD). Aetiologically, it occurs in three forms: symptomatic, cryptogenic and idiopathic. Objective. Estimation of PMD in children with WS according to aetiology. Methods. The observed group consisted of 65 children. Age range was between 6 and 30 months. The patients were divided into three groups according to aetiology. All patients underwent psychological examination with Brunet-Lesine test, as well as PMD evaluation based on achieved developmental milestones for the corresponding age. Results. Statistically significant better values in the Human Developmental Index (HDI) had patients with idiopathic compared to other forms of WS, at testing after 12 months (93.0?8.1 vs. 46.8?6.1 vs. 45.6?3.8), as well as after 24 months (93.9?7.7 vs. 51.9?5.5 vs. 50.9?4.4). The best values of HDI after 24 months had patients with improvement in PMD with the average of 66.2?4.4, which was statistically significant compared to those with unchanged PMD (41.5?5.3) and with further regression in PMD (28.3?4.4). Significant correlation was obtained between PMD after 12 and 24 months (r=0.477), as well as a considerable improvement in HDI from the 12th to 24th month (49.4?4.0 vs. 53.7?3.9). Conclusion. The patients with idiopathic WS accomplished the best PMD. Improvement in PMD after 12 and 24 months of treatment was associated with improved HDI. Improvement in PMD was observed in all patients after 2 years of follow-up.

Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type

2015 ◽  
Vol 17 (2) ◽  
pp. 188-193 ◽  
Author(s):  
Luciana R De Marchi ◽  
Evelyn A Seraphim ◽  
Jeana T Corso ◽  
Pedro VF Naves ◽  
Kelly Cristina de Carvalho ◽  
...  
Keyword(s):  
Seizure Type ◽  
Epileptic Spasms ◽  
Infancy And Childhood ◽  
Tonic Spasms

Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation

2021 ◽  
Author(s):  
Ranjana Mishra ◽  
Sunita Bijarnia-Mahay ◽  
Praveen Kumar ◽  
Tarvinder Bir Singh Buxi ◽  
Samarth Kulshrestha ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Novel Mutation ◽  
Infantile Spasm ◽  
Leigh Syndrome ◽  
Epileptic Seizures ◽  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
High Dose ◽  
Epileptic Spasms ◽  
Clinical Continuum

AbstractEpileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We report a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.

scholarly journals Infantile Spasms: Opportunities to Improve Care

2020 ◽  
Vol 40 (02) ◽  
pp. 236-245 ◽  
Author(s):  
Ricka Messer ◽  
Kelly G. Knupp
Keyword(s):  
Alternative Therapy ◽  
Infantile Spasm ◽  
Primary Care Providers ◽  
Epileptic Encephalopathy ◽  
Seizure Type ◽  
Epilepsy Syndrome ◽  
Care Providers ◽  
Epileptic Spasms ◽  
Challenges And Opportunities ◽  
Oral Corticosteroids

AbstractInfantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin. Treatment efficacy should be assessed with electroencephalography at 2 weeks, and an alternative therapy is indicated if epileptic spasms or hypsarrhythmia have not resolved. Collaboration with primary care providers is critical to mitigate the potentially serious adverse effects of standard treatments and also to provide developmental interventions. Although new approaches are on the horizon, addressing current challenges and opportunities now can dramatically improve patient outcomes.

Concordance between the interictal focal EEG pattern and MRI lesions as a predictor of a favorable surgical outcome in patients with epileptic spasms: a Chinese study

2019 ◽  
Vol 23 (4) ◽  
pp. 422-431 ◽  
Author(s):  
Cuiping Xu ◽  
Tao Yu ◽  
Guojun Zhang ◽  
Gary B. Rajah ◽  
Yuping Wang ◽  
...  
Keyword(s):  
Seizure Frequency ◽  
Surgical Outcome ◽  
Epileptic Spasms ◽  
Select Group ◽  
Chinese Study ◽  
Interictal Eeg ◽  
Atypical Absence ◽  
Multilobar Resection ◽  
Age Range ◽  
Eeg Pattern

OBJECTIVEThe aim of this study was to evaluate the electro-clinical features, etiology, treatment, and postsurgical seizure outcomes in patients with intractable epileptic spasms (ESs).METHODSThe authors retrospectively studied the medical records of all patients who had presented with medically intractable ESs and had undergone surgery in the period between October 2009 and August 2015. The interictal electroencephalography (EEG) pattern, MRI studies, magnetoencephalography findings, and postsurgical seizure outcomes were compared.RESULTSTwenty-six patients, 12 boys and 14 girls (age range 3–22 years), were eligible for study inclusion. Of these 26 patients, 84.6% (22) presented with multiple seizure types including partial seizures (PSs) independent of the ESs (30.8%); ESs followed by tonic seizures (30.8%); myoclonic seizures (19.2%); tonic seizures (19.2%); ESs followed by PSs (19.2%); focal seizures with secondary generalization (15.4%); atypical absence (11.5%); PSs followed by ESs (7.7%); and myoclonic followed by tonic seizures (7.7%). Seventeen patients underwent multilobar resection and 9 underwent unilobar resection. At the last follow-up (mean 36.6 months), 42.3% of patients were seizure free (outcome classification [OC] 1), 23.1% had > 50% reduction in seizure frequency (OC2–OC4), and 34.6% had < 50% reduction in seizure frequency or no improvement (OC5 and OC6). Predictors of favorable outcomes included an interictal focal EEG pattern and concordance between interictal EEG and MRI-demonstrated lesions (p = 0.001 and 0.004, respectively).CONCLUSIONSA favorable surgical outcome is achievable in a highly select group of patients with ESs secondary to structural lesions. Interictal EEG can help in identifying patients with the potential for favorable resective outcomes.

scholarly journals Epileptic Encephalopathies: An Overview

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Khan ◽  
Raidah Al Baradie
Keyword(s):  
Slow Wave Sleep ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Management Options ◽  
Epileptic Encephalopathies ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Cerebral Dysfunction ◽  
Epileptic Syndromes

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.

scholarly journals Aetiological aspects of west syndrome

2006 ◽  
Vol 134 (Suppl. 1) ◽  
pp. 45-49
Author(s):  
Borivoj Marjanovic ◽  
Milena Djuric ◽  
Dragan Zamurovic ◽  
Ruzica Kravljanac ◽  
Gordana Vlahovic ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Neurological Impairment ◽  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
West Syndrome ◽  
Clinical Feature ◽  
Perinatal Complications ◽  
Hereditary Metabolic Diseases ◽  
Number Of Patients ◽  
Aetiological Diagnosis

INTRODUCTION. West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients. West Syndrome is associated with many underlying conditions and the terms idiopathic, cryptogenic, and symptomatic are used for its aetiological subgroups. OBJECTIVE. The objective of this investigation was to determine the aetiological diagnosis of patients with West Syndrome and to compare the results with other studies. METHOD. In this 34-year longitudinal prospective one-centre study, 404 patients were studied. All patients exhibiting the diagnostic criteria for West Syndrome were investigated by clinical and neurological examination, EEG, ophthalmologic, psychological, metabolic, genetic, as well as neuroradiological methods, according to their particular indications. RESULTS. 36 (8.9%) patients had normal development, in whom infantile spasms occurred without any identifiable underlying cause, forming the idiopathic group. 51 patients (12.6%) with neurological impairment of unknown aetiology formed the cryptogenic group. The greatest number of patients (317 or 78.5%) formed the symptomatic group, in which neurological features and developmental delay preceded the onset of spasms. Disgenetic disorders and hereditary metabolic diseases were aetiological factors 44 (10.8%) patients. Prenatal and perinatal aetiological factors were revealed in one third of the patients (134 or 31%). Postnatal aetiological factors were revealed in 42 (10.2%) patients. In our study, disgenetic disorders were registered less frequently and perinatal complications more frequently than in other studies. CONCLUSION. Our results indicate the possibility of preventing West Syndrome with good quality obstetric and neonatal care, as well as the early prenatal diagnosis of brain malformations. Modern, sophisticated investigation makes the more accurate aetiological diagnosis of West Syndrome possible.

Are Epileptic Spasms a Seizure Type for the Insular Region?

2020 ◽  
Vol 51 (04) ◽  
pp. 295-297 ◽  
Author(s):  
Volodymyr Kharytonov ◽  
Olivier Dulac
Keyword(s):  
Slow Wave ◽  
Late Onset ◽  
Motor Program ◽  
High Amplitude ◽  
The Other ◽  
Seizure Type ◽  
Wave Characteristic ◽  
The Third ◽  
Epileptic Spasms ◽  
Insular Region

AbstractTwo patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained efficient for over 4 years for one patient and right into the third decade for the other one. Such ES are distinct from infantile and late onset spasms. Furthermore, these observations suggest that in ES insular epilepsy triggers paroxysmal activation of the striatum, and that vigabatrin inhibits the striatal startle motor program, thus interrupting the corticostriatal loop.

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

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