RESUMO
Most cases of herpes simplex virus 1 (HSV-1) encephalitis (HSE) remain unexplained1,2. Here, we report on two unrelated people who had HSE as children and are homozygous for rare deleterious variants of TMEFF1, which encodes a cell membrane protein that is preferentially expressed by brain cortical neurons. TMEFF1 interacts with the cell-surface HSV-1 receptor NECTIN-1, impairing HSV-1 glycoprotein D- and NECTIN-1-mediated fusion of the virus and the cell membrane, blocking viral entry. Genetic TMEFF1 deficiency allows HSV-1 to rapidly enter cortical neurons that are either patient specific or derived from CRISPR-Cas9-engineered human pluripotent stem cells, thereby enhancing HSV-1 translocation to the nucleus and subsequent replication. This cellular phenotype can be rescued by pretreatment with type I interferon (IFN) or the expression of exogenous wild-type TMEFF1. Moreover, ectopic expression of full-length TMEFF1 or its amino-terminal extracellular domain, but not its carboxy-terminal intracellular domain, impairs HSV-1 entry into NECTIN-1-expressing cells other than neurons, increasing their resistance to HSV-1 infection. Human TMEFF1 is therefore a host restriction factor for HSV-1 entry into cortical neurons. Its constitutively high abundance in cortical neurons protects these cells from HSV-1 infection, whereas inherited TMEFF1 deficiency renders them susceptible to this virus and can therefore underlie HSE.
Assuntos
Encéfalo , Encefalite por Herpes Simples , Herpesvirus Humano 1 , Proteínas de Membrana , Internalização do Vírus , Animais , Feminino , Humanos , Masculino , Encéfalo/citologia , Encéfalo/metabolismo , Encéfalo/virologia , Encefalite por Herpes Simples/virologia , Encefalite por Herpes Simples/metabolismo , Herpesvirus Humano 1/patogenicidade , Herpesvirus Humano 1/fisiologia , Homozigoto , Interferon Tipo I/metabolismo , Interferon Tipo I/imunologia , Proteínas de Membrana/deficiência , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Nectinas/genética , Nectinas/metabolismo , Neurônios/citologia , Neurônios/metabolismo , Neurônios/virologia , Células-Tronco Pluripotentes/citologia , Replicação Viral , Pré-Escolar , Adulto Jovem , LinhagemRESUMO
BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.
Assuntos
Deficiência Intelectual , Tabagismo , Humanos , Deficiência Intelectual/genética , Lisina/genética , Tabagismo/genética , Testes Genéticos , Canais Iônicos/genéticaRESUMO
BACKGROUND: We aimed to examine suicide probability, factors affecting suicide, and personality traits of children and adolescents diagnosed with epilepsy, and to compare their results with those of children without epilepsy. METHODS: Fifty-six children diagnosed with epilepsy and 56 control children, aged 11-16 years, were evaluated by using the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria, the Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version, the Child Depression Inventory, the Suicide Probability Scale (SPS), and the Personality Inventory for DSM-5 - Brief Form - Children (PID-5-BF) scales. Factors predicting suicide risk in children with epilepsy were analyzed. RESULTS: The mean age, SPS total score, and hopelessness subscale score, PID-5-BF total score as well as disinhibition and psychoticism subscale scores of the epilepsy group were significantly higher than those of the control group (P < 0.05). There was no significant difference between the groups in terms of the Child Depression Inventory, and other subscales of the Suicide Probability Scales and PID-5-BF scales. The SPS total score was higher in patients with comorbid psychiatric diseases, those using psychiatric drugs, and girls (P < 0.05). An ANCOVA analysis indicated that the most important factor that predicted the probability of suicide and its subscale scores was the level of depression, and the presence of epilepsy was not predictive. CONCLUSIONS: We found a high probability of suicide and personality pathology in children with epilepsy but the main predictor of suicide probability was the level of depression, not the presence of epilepsy.
Assuntos
Epilepsia , Suicídio , Adolescente , Criança , Manual Diagnóstico e Estatístico de Transtornos Mentais , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/psicologia , ProbabilidadeRESUMO
BACKGROUND: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP). METHODS: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated. RESULTS: The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers. CONCLUSIONS: Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.
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Paralisia Cerebral , Desnutrição , Criança , Estudos Transversais , Humanos , Desnutrição/diagnóstico , Desnutrição/etiologia , Micronutrientes , Estado Nutricional , ZincoRESUMO
OBJECTIVE: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES. METHODS: The data of 39 patients diagnosed as ESES and who received sulthiame as an additional treatment between 2016 and 2020 were reviewed retrospectively. Electroencephalographic (EEG) findings and seizure rates were compared before and after the sulthiame treatment. RESULTS: The mean age was 8.5⯱â¯4.1 (1.5-16â¯years). Nine out of 39 patients had benign childhood focal epilepsies. Structural causes were identified in 13 patients. The mean duration of sulthiame use was 32.5⯱â¯13.7â¯months. After sulthiame treatment, 25 patients (64.1%) were seizure free, and 8 (20.5%) had more than a 50% decrease in seizure frequency. The mean seizure-free time after the sulthiame treatment was 27.8⯱â¯17.9â¯months. Nineteen patients (48.7%) had complete, and nine patients (23.1%) had partial EEG improvement. Complete seizure control was significantly higher in benign focal epilepsy of childhood (pâ¯=â¯0.01). Significant neurocognitive and behavioral recovery, improvement in school performance was observed following sulthiame treatment (pâ¯<â¯0.001). CONCLUSION: Sulthiame was found to be effective in seizure control and EEG improvement in ESES. We think that the use of sulthiame alone can be a good choice with high efficacy and tolerability in ESES.
Assuntos
Estado Epiléptico , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Seguimentos , Humanos , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Sono , Estado Epiléptico/tratamento farmacológico , TiazinasRESUMO
AIM: The aim of this study was to assess sleep architecture and sleep problems among three homogenous groups of children including children with drug-resistant focal epilepsy, children with newly diagnosed, drug-naïve focal epilepsy, and healthy children using overnight video-polysomnography (V-PSG) and a sleep questionnaire. METHODS: We compared sleep architecture among 44 children with drug-resistant focal epilepsy, 41 children with newly diagnosed, drug naïve focal epilepsy, and 36 healthy children. All children underwent an overnight V-PSG recording, and their parents completed the Children's Sleep Habits Questionnaire (CSHQ). Sleep recordings were scored according to the American Academy of Sleep Medicine criteria. RESULTS: Compared with children with newly diagnosed epilepsy and healthy controls, children with drug-resistant epilepsy receiving antiepileptic treatment showed disturbed sleep architecture, a significant reduction in time in bed, total sleep time, sleep efficiency, NREM3%, REM%, and a significant increase in awakenings, wake after sleep onset, and periodic leg movement. Children with drug-naïve, newly diagnosed focal epilepsy showed a statistically significant increase in sleep onset latency, rapid eye movement (REM) latency, N1%, awakenings, and a significant decrease in time in bed when compared with the controls. Children with drug-resistant epilepsy had the highest CSHQ total scores, while children with drug-naïve, newly diagnosed focal epilepsy had higher scores than healthy children. CONCLUSION: This is one of the few polysomnographic studies adding to the limited research on the sleep macrostructure of children with drug-resistant epilepsy compared with children with drug-naïve, newly diagnosed focal epilepsy and healthy children by obtaining objective measurements of sleep concurrently with a validated questionnaire. Children with drug-resistant epilepsy had a greater incidence of sleep disturbance on the basis of qualitative aspects and architecture of sleep than children with newly diagnosed epilepsy, suggesting the need for referral of children with drug-resistant epilepsy for overnight sleep evaluation in order to improve the clinical management and optimize therapeutic strategies.
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Epilepsia , Preparações Farmacêuticas , Transtornos do Sono-Vigília , Criança , Humanos , Polissonografia , Sono , Transtornos do Sono-Vigília/etiologiaRESUMO
PURPOSE: Measurement of optic nerve sheath diameter (ONSD) with ocular ultrasonography (USG) is a noninvasive technique that can be readily used to determine clues of increased intracranial pressure. In this study, we aimed to determine the role of optic nerve sheath diameter measurements in the diagnosis and follow-up of pediatric patients with idiopathic intracranial hypertension (IIH). METHODS: Eight patients with a diagnosis of IIH with a median age of 11.7 (range 4.5-17) years were examined prospectively. During follow-up, orbital ultrasonography (USG) was performed immediately prior to lumbar puncture (LP) and at 24 h, at 1 week, and between 1 and 18 months after LP. Cranial MRI examinations and automated visual field assessments were performed at baseline and at 3 months, and both measurements were compared with each other. RESULTS: The mean cerebrospinal fluid opening pressure (37.75 ± 12.64 cm H2O) and the mean ONSD (5.94 ± 0.46 mm) were correlated. The median follow-up was 16 (range, 12-18 months), and ONSD regressed gradually consistent with clinical and radiologic improvement during follow-up. CONCLUSIONS: To the best of our knowledge, this is the first prospective pilot study performed on pediatric patients with IIH using orbital USG for ONSD measurements. Despite the small sample size, the present study indicated that orbital USG may be used as a promising noninvasive tool to diagnose increased intracranial pressure and for monitoring treatment efficacy in this special patient population.
Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Adolescente , Criança , Pré-Escolar , Humanos , Hipertensão Intracraniana/diagnóstico por imagem , Pressão Intracraniana , Nervo Óptico/diagnóstico por imagem , Projetos Piloto , Estudos Prospectivos , Pseudotumor Cerebral/diagnóstico por imagem , Resultado do Tratamento , UltrassonografiaRESUMO
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease. Moreover, patients with L2HGA have an increased risk for the development of cerebral neoplasms. CASES PRESENTATION: Although psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings are the most common characteristics of the disease, we present two rare cases admitted with tumoral symptoms. CONCLUSION: Patients with L2HGA have an increased risk for the development of cerebral neoplasms.
Assuntos
Encefalopatias Metabólicas Congênitas , Deficiência Intelectual , Megalencefalia , Neoplasias , Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Humanos , Imageamento por Ressonância MagnéticaRESUMO
PURPOSE: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings. METHODS: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into "infantile," "early childhood," and "juvenile" based on their onset age. EIF2B1-5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. RESULTS: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1-5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323_325delGAA in the EIF2B1 gene. CONCLUSIONS: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages.
Assuntos
Epilepsia , Leucoencefalopatias , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Imageamento por Ressonância Magnética , MutaçãoRESUMO
Background/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of the children was assessed by the Gomez classification using weight-for-age. The Gross Motor Function Classification System was used to determine the gross and fine motor functions. Results: The study was conducted with 197 children (58.4% males) between the ages of 1 and 18 years old. Asphyxia (44.1%) was the primary etiological factor, and spastic quadriplegia (41.6%) was the most common type of cerebral palsy. Malnutrition was the most frequent comorbidity and the overall malnutrition rate was 76.6%. The most common type of malnutrition was severe malnutrition, which was seen in 70 patients (35.5%). Epilepsy was the second most common comorbidity, seen in 51.7% of the cases. Conclusions: Our results revealed a high rate of malnutrition and epilepsy in children with cerebral palsy. These two more common significant comorbidities that influence the outcomes of children with cerebral palsy should be carefully evaluated and successfully managed. Families of children with cerebral palsy and their physicians should be educated about the nutritional status in these children.
Assuntos
Paralisia Cerebral/complicações , Paralisia Cerebral/epidemiologia , Epilepsia/complicações , Epilepsia/epidemiologia , Desnutrição/complicações , Desnutrição/epidemiologia , Adolescente , Peso ao Nascer , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estado Nutricional , Estudos RetrospectivosRESUMO
OBJECTIVE: The aim of this study was to assess the electrographic criteria related to seizure recurrence and determine age-related seizure recurrence in children with rolandic epilepsy under long-term follow-up. METHODS: We retrospectively analyzed the data belonging to 109 patients with rolandic epilepsy with sufficient information regarding disease course and follow-up duration longer than 3years. Patients were divided into two categories: Group A (n: 75), comprised of "patients having fewer than four seizures", and Group B (n: 34), the "recurrence group comprised of patients having more than four seizures in the first three months". The number of spikes per minute during both wakefulness and sleep, the localization of spikes other than centrotemporal region, and the duration of spike-wave activity were evaluated longitudinally, with repeated electroencephalogram (EEG) recordings every 6months. RESULTS: The appearance of rolandic spikes in awake EEGs tended to be more prevalent in Group B than Group A. In Group B, spike rates significantly increased in the 12 and 18months after onset whereas spike rates increased significantly only 6months after onset in Group A. Seizure recurrence is mostly seen at 6-8years, and improvement becomes evident by age 12. The mean number of paroxysmal rolandic discharges during sleep was significantly higher in the younger age groups (3-5, 6-8), and the mean number of spikes per minute significantly decreased at ages 9-11 and over 12. CONCLUSION: Our study demonstrates that extended periods of high frequency of paroxysmal discharges, initial frontal EEG focus, and persistence of awake interictal abnormalities are highly effective in predicting seizure recurrence in patients with rolandic epilepsy (RE).
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Epilepsia Rolândica/fisiopatologia , Convulsões/fisiopatologia , Adolescente , Fatores Etários , Análise de Variância , Criança , Pré-Escolar , Progressão da Doença , Eletroencefalografia , Feminino , Seguimentos , Lobo Frontal/fisiologia , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Sono/fisiologia , Vigília/fisiologiaRESUMO
Background/aim: We evaluated the utility of electroencephalography (EEG) in children with neurological conditions and compared the results with those of our previous study on excessive uses of pediatric EEG, which was published in 2003. We also evaluated the possibility of subsequent EEGs and satisfactory duration of EEG recordings according to EEG type and admission status. We also evaluated the yield of varying durations of EEG recordings. Materials and methods: All consecutive pediatric EEG records performed at Gazi University EEG laboratory during a 1-year period were retrospectively reviewed. The indications of EEGs, the number of EEGs for each patient, condition and duration of EEG records, and activation techniques were evaluated in terms of detection of abnormalities by EEG. Results: We reviewed a total of 2045 EEGs in children aged 2 months20 years. Of these, 776 were repeat EEGs (38%) and 485 recordings were ≥30 min (23.7%); 98% of EEG abnormalities appeared in the first 30 min. Overall, 90.5% of EEGs were ordered by a pediatric neurologist. There were similar requests for numbers of EEGs, but the rate of abnormal EEGs (43.6%) was significantly higher when compared to that of our previous study (36.2%). Conclusion: The results of this study show that the utility of EEG becomes more selective and interpretation of pediatric EEG improves depending on the increasing number of pediatric neurologists. A duration of 2030 min of EEG recording is sufficient, on the condition of inclusion of nREM sleep records.
Assuntos
Eletroencefalografia/tendências , Doenças do Sistema Nervoso/diagnóstico , Pediatria/tendências , Adolescente , Criança , Pré-Escolar , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Neurologistas , Padrões de Prática Médica/tendências , Estudos Retrospectivos , Convulsões/diagnóstico , Sono , TurquiaRESUMO
Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal ß-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient's mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of ß-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.
Assuntos
Catepsina A/genética , Doenças por Armazenamento dos Lisossomos/genética , Mutação , Feminino , Humanos , Lactente , TurquiaRESUMO
INTRODUCTION: The goal of this study was to evaluate the utility of orbital ultrasonography and magnetic resonance imaging in the diagnosis of idiopathic intracranial hypertension (IIH). METHOD: We reviewed the medical records of patients referred to our department for suspected IIH. RESULTS: Seven children were diagnosed with IIH. Nine children revealed pseudopapilledema by optic coherence tomography and/or orbital ultrasonography. When the axial sequences were reexamined, patients with papilledema had optic nerve sheath (ONS) enlargement (6.62 ± 0.70 mm); patients with pseudopapilledema had ONS diameter as 4.62 ± 0.64 mm. There was a significant correlation between the CSF opening pressure and ONS diameter (p < 0.005, r = 0.661). In the papilledema group, the presence of proposed subtle markers as increased tortuosity in the optic nerve was found in six patients. Five of seven patients had a target sign, intraocular protrusion of the optic nerve, and posterior globe flattening. DISCUSSION: Ophthalmological review is important to avoid unnecessary procedures for detection of true papilledema. ONS diameter is a reliable neuroimaging marker as other subtle markers.
Assuntos
Oftalmopatias Hereditárias/diagnóstico por imagem , Hipertensão Intracraniana/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Papiledema/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Oftalmopatias Hereditárias/complicações , Feminino , Humanos , Hipertensão Intracraniana/etiologia , Pressão Intracraniana , Imageamento por Ressonância Magnética , Masculino , Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/complicações , Papiledema/complicações , Estudos Retrospectivos , UltrassonografiaRESUMO
OBJECTIVE: This study aimed to investigate the efficacy of resective surgery in children with focal lesional epilepsy by evaluating the predictive value of pre- and postsurgical factors in terms of seizure freedom. METHODS: This study included 61 children aged between 2 and 18years who were admitted to the pediatric video-EEG unit for presurgical workup. Each patient was evaluated with a detailed history, video-EEG, neuroimaging, and postsurgical outcomes according to Engel classification to predict postsurgical seizure freedom. All the possible factors including history, etiology, presurgical evaluation, surgical procedures, and postsurgical results were analyzed for their predictive value for postoperative seizure freedom. RESULTS: Of the 61 patients, 75% were diagnosed as having temporal lobe epilepsy (TLE), and 25% were diagnosed with extra-TLE. Two years after the surgery, 78.6% were seizure-free, of which 89% had TLE, and 50% had extra-TLE (p<0.05). Patients were more likely to have a favorable outcome for seizure freedom if they had rare seizure frequency, focal EEG findings, and focal seizures; had a temporal epileptogenic zone; or had TLE and hippocampal sclerosis. On the other hand, patients were more likely to have unfavorable results for seizure freedom if they had younger age of seizure onset, frequent seizures before the surgery, a frontal or multilobar epileptogenic zone, secondarily generalized seizures, extra-TLE with frontal lobe surgery, or focal cortical dysplasia. SIGNIFICANCE: Resective surgery is one of the most effective treatment methods in children with intractable epilepsy. A history of young age of seizure onset, frequent seizures before surgery, secondarily generalized seizures, a multilobar epileptogenic zone, frontal lobe surgery, and focal cortical dysplasia (FCD) are the most important predictive factors indicating that a patient would continue having seizures after surgery. On the other hand, focal seizure semiologies, temporal lobe localization, and hippocampal sclerosis indicate that a patient would have better results in terms of seizure freedom.
Assuntos
Epilepsias Parciais/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Malformações do Desenvolvimento Cortical/cirurgia , Lobo Temporal/cirurgia , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/complicações , Epilepsias Parciais/etiologia , Epilepsia do Lobo Temporal/etiologia , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Neuroimagem , Resultado do TratamentoRESUMO
INTRODUCTION: Brain capillary telangiectasias (BCT) are small, clinically benign, usually asymptomatic and rarely seen lesions during childhood. Large symptomatic BCT during childhood are extremely rare, with only a few reports in the literature. They usually cannot be detected easily on conventional magnetic resonance imaging and angiography. METHODS: We present the first pediatric case series of large pontine BCT presenting with distinct symptoms and in whom the lesions were detected by susceptibility-weighted imaging (SWI), for the first time to date. SWI provides a crucial imaging modality for BCT. RESULTS: We suggest that the combination of signal intensity loss on SWI and focal enhancement in a lesion otherwise not seen on conventional MR images is diagnostic for BCT and serves to discard serious differential diagnoses with high specificity, reassuring patients and referring physicians. CONCLUSION: We would like to emphasize clinical and radiological findings of BCT and utility of SWI images on MRI for the confirmation of diagnosis in the pediatric age group.
Assuntos
Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adolescente , Feminino , Humanos , MasculinoRESUMO
PURPOSE: Over the past two decades, vagus nerve stimulation (VNS) has become an accepted and viable treatment modality for intractable epilepsy both in children and adults. Earlier studies have demonstrated short-term seizure outcomes, usually for up to 5 years; so far, none have reported an extended outcome in children. We aimed to assess long term seizure outcome in children with intractable epilepsy for more than 5 years. METHODS: We identified patients who had VNS implantation for treatment of intractable epilepsy from March 2000 to March 2015 at our Epilepsy Center and collected data including demographic, age at epilepsy onset and VNS implantation, duration of epilepsy, seizure type, number of antiepilepsy drugs (AEDs), and monthly seizure frequency before VNS implantation and at the last clinic visit. Phone surveys were conducted with patients without recent clinic follow-up. RESULTS: Fifty-six patients (aged 4-17 at the time of implant) are the subjects of the study. Seizure reduction of >50 % was achieved in 9.8 % (6th month), 24 % (2nd year), 46.4 % (3rd year), and 54 %(5th year), and overall 35 (62.5 %) of the 56 subjects had a greater than 50 % reduction in seizure frequency at the last follow-up. Eleven patients became seizure free. The results, once obtained, were maintained steadily or even improved over time without any loss of efficacy during the follow-up. The only parameter, significantly related with clinical response, was age at seizure onset. The most frequent adverse events were hoarseness, cough, sore throat, and anorexia, experienced by 13 patients. Two patients had local wound infections and lead to the removal of the stimulator. An improvement in alertness, attention, and psychomotor activity, independent of the efficacy of vagal nerve stimulation, was observed in 8 patients. CONCLUSION: To our knowledge, this is the first pediatric study evaluating seizure outcome over more than 5 years of follow-up, and demonstrates a favorable seizure outcome of >50 % seizure frequency in 62.5 % of patients and seizure freedom in 11 patients. It is well tolerated over an extended period of time.
Assuntos
Epilepsia Resistente a Medicamentos/terapia , Resultado do Tratamento , Estimulação do Nervo Vago/métodos , Adolescente , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Estudos RetrospectivosRESUMO
Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl-CoA synthase deficiency caused by an SUCLA2 defect.