RESUMO
OBJECTIVES: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency. CASE PRESENTATION: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy. CONCLUSIONS: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.
Assuntos
Deficiência da Di-Hidropirimidina Desidrogenase , Defeitos dos Septos Cardíacos , Humanos , Masculino , Pré-Escolar , Defeitos dos Septos Cardíacos/genética , Deficiência da Di-Hidropirimidina Desidrogenase/complicações , Deficiência da Di-Hidropirimidina Desidrogenase/genética , Prognóstico , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/patologia , AmidoidrolasesRESUMO
PURPOSE: Unlike in adults, the indications and techniques for mechanical thrombectomy for arterial ischemic stroke (AIS) in children are not clearly established. The medical and interventional management of children with acute large vessel occlusion may entail the modification of the standardized management of this condition in adults. We present six cases of children who underwent non-routine thrombectomy for AIS. METHODS: We retrospectively reviewed the records of children diagnosed with AIS between 2015 and 2023 and evaluated patient characteristics, procedural technical data, and final clinical outcomes. Procedures deviating from the current definition and indications for AIS treatment in adults as well as previously reported pediatric thrombectomy cases were defined as non-routine thrombectomy. RESULTS: Seven non-routine thrombectomy procedures in six children were included in the study. The National Institutes of Health Stroke Scale scores on admission ranged from 4 to 35; no procedure-related mortality or major neurologic morbidity occurred. One child died of causes related to the initial severe heart failure and stroke; otherwise, all the children had a modified Rankin scale score of 0 to 1 at follow-up. Unique clinical and procedural features in our case series included presentation with acute stent occlusion (two children), bilateral simultaneous internal carotid artery occlusions associated with a unilateral tandem middle cerebral artery (MCA) occlusion (one child), MCA occlusion caused by thromboembolism of the atrial myxoma (one child), and very distal (one child) or delayed thrombectomy (two children). CONCLUSION: Modifications to the standard medical and interventional algorithms may be required for mechanical thrombectomy in children. CLINICAL SIGNIFICANCE: Referral centers specialized in pediatric neurology, pediatric anesthesia, and pediatric intervention are optimal for treating children using mechanical thrombectomy and for modifying the treatment, if required.
RESUMO
Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10. Up until now, to our knowledge around 38 patients with PYCR2 defect have been reported. Herein, we describe clinical, neuroradiological, biochemical findings, and metabolomic profiling of three new genetically related cases of PYCR2 defects from a large family. Cerebrospinal fluid (CSF) amino acid levels were measured and untargeted metabolomic profiling of plasma and CSF were conducted and evaluated together with the clinical findings in the patients. While plasma and CSF proline levels were found to be totally normal, untargeted metabolomic profiling revealed mild increases of glutamate, alpha-ketoglutarate, and l-glutamate semialdehyde and marked increases of inosine and xanthine. Our findings and all the previous reports suggest that proline auxotrophy is not the central disease mechanism. Untargeted metabolomics point to mild changes in proline pathway and also in purine/pyrimidine pathway.
Assuntos
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Metabolômica , Prolina , Pirrolina Carboxilato Redutases , Criança , Feminino , Humanos , Masculino , delta-1-Pirrolina-5-Carboxilato Redutase , Ácido Glutâmico/metabolismo , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/patologia , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico , Ácidos Cetoglutáricos/metabolismo , Ácidos Cetoglutáricos/sangue , Imageamento por Ressonância Magnética , Redes e Vias Metabólicas/genética , Metaboloma/genética , Metabolômica/métodos , Mutação/genética , Linhagem , Prolina/líquido cefalorraquidiano , Purinas/metabolismo , Pirimidinas , Pirrolina Carboxilato Redutases/genética , Pirrolina Carboxilato Redutases/deficiência , Xantina/sangue , LactenteRESUMO
OBJECTIVE: The aim of the study is to evaluate predictors of clinically important neuroimaging results, that is, computed tomography and magnetic resonance imaging in children in an academic pediatric emergency department (PED) from 2015 to 2019. METHODS: This study was conducted in an academic PED. The patient's demographic and clinical characteristics of PED visits and neuroimaging findings requested at the PED were recorded for January 1, 2015, to December 31, 2019. In addition, descriptive statistics and logistic regression analyses were conducted. We described and determined the predictors of clinically important neuroimaging findings in children. RESULTS: Clinically important neuroimaging findings were detected in patients with blurred vision ( P = 0.001), ataxia ( P = 0.003), unilateral weakness ( P = 0.004), and altered level of consciousness ( P = 0.026). Clinically important neuroimaging was found 9.4 times higher in patients with altered level of consciousness, 7.4 times higher in patients with focal weakness, 4.6 times higher in patients with blurred vision, and 3.5 times more in patients presenting with ataxia. CONCLUSIONS: Advanced neuroimaging, especially for selected patients in PED, can improve the quality of health care for patients. On the other hand, irrelevant neuroimaging findings can lead physicians away from prompt diagnosis and accurate management. According to our study, advanced neuroimaging can be performed in the early period for both diagnosis and early treatment, especially in selected patients with ataxia, blurred vision, altered consciousness, and unilateral weakness. In other cases, clinicians may find more supporting evidence.
Assuntos
Serviço Hospitalar de Emergência , Imageamento por Ressonância Magnética , Neuroimagem , Tomografia Computadorizada por Raios X , Humanos , Masculino , Feminino , Criança , Neuroimagem/métodos , Pré-Escolar , Adolescente , Lactente , Estudos Retrospectivos , AtaxiaRESUMO
OBJECTIVE: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings. METHODS: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency. RESULTS: Median age at presentation and diagnosis were 11.5 months (8-12 months) and 63 months (18 months -11 years), respectively. Median duration of follow-up was 14 years. Global developmental delay (6/6) and seizures (5/6) were the most common symptoms. Four patients presented with febrile seizures. The age at seizure-onset ranged between 8 months and 4 years. Most common seizure types were generalized tonic seizures (n = 4) and motor seizures resulting in drop attacks (n = 3). Slow background activity (n = 5) and generalized irregular sharp and slow waves (n = 3) were the most common EEG findings. Burst-suppression and electrical status epilepticus during slow-wave sleep (ESES) pattern was present in one patient. Three of six patients had drug-resistant epilepsy. Post-treatment clinical severity scores showed improvement regarding movement disorders and epilepsy. All patients were seizure-free in the follow-up. CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.
Assuntos
Eletroencefalografia , Guanidinoacetato N-Metiltransferase/deficiência , Transtornos do Desenvolvimento da Linguagem , Transtornos dos Movimentos/congênito , Humanos , Masculino , Feminino , Pré-Escolar , Lactente , Criança , Estudos Retrospectivos , Convulsões/diagnóstico , Convulsões/fisiopatologia , Convulsões/etiologia , Convulsões/tratamento farmacológico , Transtornos dos Movimentos/diagnóstico , Seguimentos , Deficiências do Desenvolvimento/etiologiaRESUMO
ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.
Assuntos
Ataxia , Humanos , Masculino , Criança , Feminino , Pré-Escolar , Adolescente , Adulto Jovem , Ataxia/genética , Ataxia/fisiopatologia , Adulto , Lactente , Hipoventilação/genética , Hipoventilação/diagnósticoRESUMO
BACKGROUND: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. CASE: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history. She had hypotonia and spontaneous opisthotonic posture. Refractory and extensive CMV infections were detected; immunological investigations revealed normal quantitative immunoglobulins and low numbers of CD3+, CD4+, and CD8+ cells. The next generation sequencing analysis revealed a mutation in the ORAI1 gene. CONCLUSIONS: The present patient`s history of refractory and widespread CMV infections shows a clinically substantial reduction in resistance against opportunistic microorganisms. This case emphasizes the importance of considering STIM1 and ORAI1 defects in patients with SCID phenotype and neurologic involvement, such as hypotonia.
Assuntos
Infecções por Citomegalovirus , Imunodeficiência Combinada Severa , Humanos , Feminino , Hipotonia Muscular/genética , Linfócitos T CD8-Positivos , Diarreia , Febre , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética , Proteína ORAI1/genéticaRESUMO
OBJECTIVE: Non-epileptic paroxysmal events (NEPEs) are common in pediatric patients and may be misdiagnosed as epileptic seizures. We aimed to study the distribution of NEPEs across age groups and with different comorbidities, and to correlate the patients' presenting symptoms with their final diagnosis after video-EEG. METHODS: We retrospectively analyzed video-EEG recordings of children aged one month to 18 years who were admitted between March 2005 and March 2020. Patients who experienced any NEPE while under video-EEG monitorization were evaluated in this study. Subjects with concomitant epilepsy were also included. The patients were first divided into 14 groups according to the basic characteristics of symptoms they reported at admission. The events captured on video-EEG were then classified into six NEPE categories based on the nature of the events. These groups were compared according to video-EEG results. RESULTS: We retrospectively evaluated 1338 records of 1173 patients. The final diagnosis was non-epileptic paroxysmal event in 226 (19.3%) of 1173 patients. The mean age of the patients was 105.4 ± 64.4 months at the time of the monitoring. The presenting symptoms were motor in 149/226 (65.9%) patients, with jerking being the most common (n = 40, 17.7%). Based on video-EEG, the most common NEPE was psychogenic non-epileptic seizures (PNES) (n = 66, 29.2%), and the most common PNES subtype was major motor movements (n = 19/66, 28.8%). Movement disorders (n = 46, 20.4%) were the second most common NEPE and the most common NEPE (n = 21/60, 35%) in children with developmental delay (n = 60). Other common NEPEs were physiological motor movements during sleep (n = 33, 14.6%), normal behavioral events (n = 31, 13.7%), and sleep disorders (n = 15, 6.6%). Almost half of the patients had a prior diagnosis of epilepsy (n = 105, 46.5%). Following the diagnosis of NEPE, antiseizure medication (ASM) was discontinued in 56 (24.8%) patients. CONCLUSION: Non-epileptiform paroxysmal events can be difficult to distinguish from epileptic seizures in children, especially in patients with developmental delay, epilepsy, abnormal interictal EEG, or abnormal MRI findings. Correct diagnosis of NEPEs by video-EEG prevents unnecessary ASM exposure in children and guides appropriate management of NEPEs.
Assuntos
Epilepsia , Humanos , Criança , Estudos Retrospectivos , Diagnóstico Diferencial , Epilepsia/diagnóstico , Convulsões/diagnóstico , Convulsões/psicologia , Eletroencefalografia/métodos , Gravação em Vídeo/métodosRESUMO
BACKGROUND: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED). METHODS: This study was conducted retrospectively in the PED at a University Children`s Hospital setting. The study population consisted of patients aged between 30 days and 18 years with first focal seizure and who had emergent neuroimaging at the PED between the years 2001 and 2012. RESULTS: There were 65 eligible patients meeting the study criteria. Clinically important intracranial abnormalities requiring emergent neurosurgical or medical intervention were detected in 18 patients (27.7%) at the PED. Four patients (6.1%) underwent emergent surgical procedures. Seizure recurrence and the need for acute seizure treatment in the PED were significantly associated with clinically important intracranial abnormalities. CONCLUSIONS: Neuroimaging study yielding of 27.7% shows that first focal seizure must be evaluated meticulously. From the emergency department`s point of view; we suggest that first focal seizures in children should be evaluated with emergent neuroimaging, if possible with magnetic resonance imaging. Especially patients with recurrent seizures at presentation requires more careful evaluation.
Assuntos
Serviço Hospitalar de Emergência , Convulsões , Humanos , Criança , Lactente , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Hospitais Universitários , NeuroimagemRESUMO
Claude syndrome is a rare midbrain stroke syndrome characterized by ipsilateral third cranial nerve palsy and contralateral hemiataxia. So far, only a few cases have been reported in childhood. We present two children with Claude syndrome at 9 and 15 years of age. The typical clinical picture was consistent with brain magnetic resonance imaging findings. A thorough investigation regarding the underlying etiology revealed no definite diagnosis but clues suggestive of probable neuro-Behcet disease. Awareness of pediatric neurologists on arterial ischemic stroke has been increasing over the past decades, enabling timely diagnosis and appropriate management of rare childhood cases with midbrain stroke.
Assuntos
Síndrome de Behçet , Infartos do Tronco Encefálico , Doenças do Nervo Oculomotor , Acidente Vascular Cerebral , Criança , Humanos , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/diagnóstico por imagem , Doenças do Nervo Oculomotor/complicações , Imageamento por Ressonância Magnética , Acidente Vascular Cerebral/complicações , Infartos do Tronco Encefálico/complicaçõesRESUMO
OBJECTIVE: The generation of numerous sequences and quantitative data in a short scanning time is the most potential advantage of Synthetic MRI (SyMRI). We aimed to test detection of the tubers and to determine underlying tissue characteristics, and morphometric alterations in the brain of pediatric tuberous sclerosis complex (TSC) patients, using SyMRI. METHODS: Conventional brain MRI (cMRI) and SyMRI were prospectively obtained from 10 TSC patients and 18 healthy control subjects (HCs). Two neuroradiologists independently evaluated tubers on both scans. Additionally, automatically segmented volume calculation and myelin quantification, including the subcortical part of the tubers and normal-appearing brain parenchyma (NABP) of patients, were carried out using SyMRI. RESULTS: The cMRI and SyMRI comparison showed a very good correlation on the detection of the tubers (k = 0.82-0.94). Automatic segmentation of Non-gray matter/white matter/cerebrospinal fluid (Non), %Non/brain parenchymal volume, and %Non/intracranial volume was significantly higher; however, %Myelin/intracranial volume and %Myelin/brain parenchymal volume were significantly lower in the TSC patients (p < 0.05). The proton density values were significantly increased, and myelin fraction volume and myelin-correlated compound values were significantly decreased in the NABP in TSC patients on myelin maps (p < 0.05). The white-matter volume, myelin and white-matter fractional volume, longitudinal relaxation rate, transverse relaxation rate, and myelin-correlated compound values were significantly decreased in the subcortical part of tubers on quantification maps (p < 0.001) in TSC patients. CONCLUSION: SyMRI enables the detection of cortical tubers and is a developing tool in the quantification of morphometric and tissue alterations in pediatric TSC patients with a rational scanning time.
RESUMO
BACKGROUND: Since December 2019, coronavirus disease 2019 (COVID-19) has become a global pandemic caused by highly transmissible severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although respiratory disease and multisystem inflammatory syndrome in children (MIS-C) are main clinical presentations in children, numerous neurological manifestations are being described increasingly. We aimed to investigate new onset neurological symptoms associated with SARS-CoV-2 in pediatric patients in order to establish a possible relationship as well as to understand the underlying pathophysiological mechanisms between SARS-CoV-2 infection and neurological findings. METHODS: We analyzed retrospectively children who had neurologic manifestations temporally associated with SARS-CoV-2 infection at Hacettepe University Ihsan Dogramaci Children's Hospital. We performed a literature search between March 20, 2020 and March 30, 2021. Articles that report children with COVID-19 related neurological manifestations were included. RESULTS: We have observed 15 consecutive cases with new onset neurological manifestations along with confirmed SARS-CoV-2 infection. Age at hospitalization ranged from three months to 17 years. Ten patients had central nervous system involvement, and most common manifestation was encephalopathy (5/10), which is also one of the most common manifestations of the patients mentioned in the relevant 39 articles we reviewed. CONCLUSION: Children with COVID-19 can present with neurologic findings such as encephalopathy, seizures, cerebrovascular events as well as abnormal eye movements. Clinical suspicion and awareness are required to show the association between neurologic manifestations and COVID-19.
Assuntos
COVID-19 , Doenças do Sistema Nervoso , COVID-19/complicações , Criança , Humanos , Lactente , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/etiologia , Estudos Retrospectivos , SARS-CoV-2 , Síndrome de Resposta Inflamatória Sistêmica , Turquia/epidemiologiaRESUMO
OBJECTIVES: Syncope is a common presenting symptom in the pediatric emergency department (PED). The etiology of pediatric syncope is generally benign. However, differentiating cardiac and other serious causes from benign causes of syncope are crucial. The aim of this study was to evaluate the change of physicians' behavior after introduction of an institutional protocol designed to act as a guide in the assessment and management of syncope patients in the PED. METHODS: This was a retrospective study, conducted at the PED of our University Children's Hospital. A "pediatric syncope approach protocol" was introduced on March 1, 2019 for quality improvement purposes. Documented information in the medical records, laboratory investigations and the patients' final diagnoses during the six-month periods before and after the protocol introduction were compared. RESULTS: 268 patients were included in the study (131 pre-protocol, 137 post-protocol patients). When compared with the pre-protocol group, there was a significant improvement in the documentation of syncope characteristics (prodromal findings, predisposing factors, association with exercise), cardiac, neurological and electrocardiographic (ECG) warning signs and ordering of cardiac markers in the post-protocol group. CONCLUSIONS: The introduction of the syncope approach protocol in PED has enabled an evidence-based and systematic evaluation and management of syncope patients, and reduced the rates of low-yield investigations. Sustained implementation of this protocol can have long-term benefits in the care of children with syncope at the emergency department.
Assuntos
Médicos , Síncope , Criança , Eletrocardiografia , Serviço Hospitalar de Emergência , Humanos , Estudos Retrospectivos , Síncope/diagnóstico , Síncope/etiologia , Síncope/terapiaRESUMO
OBJECTIVE: Epilepsy surgery has shown efficacy in children. We aimed to assess long-term seizure outcome in children who underwent epilepsy surgery and determine predictive factors for seizure freedom. METHODS: This is a retrospective study of 196 children who underwent epilepsy surgery between 1994 and 2015 and had a minimum postoperative follow-up of 5 years. RESULTS: The median age at the time of surgery was 9.5 (0.08-19.8) years; 110 (56.1%) had temporal, 62 (31.6%) had extratemporal resections, and 24 (12.2%) had hemispheric surgery. The duration of postsurgical follow-up was between 5 and 20 years (mean±SD: 7 ± 3.2). Overall, 129 of 196 (65.8%) patients had Engel class I outcome at final visit. Among patients who underwent temporal, extratemporal and hemispheric surgery; 84 of 110 (76.4%), 34 of 62 (54.8%), and 11 of 24 (45.8%) patients had complete seizure freedom, respectively (p: 0.016). Patients with tumors had the best outcome, with 83.1% seizure freedom. The number of preoperative antiseizure medications (OR 3.19, 95% CI 1.07-9.48), the absence of postoperative focal epileptiform discharges (OR 8.98, 95% CI 4.07-19.79) were independent predictors of seizure freedom. Across two decades, the age at surgery was decreased (p: 0.003), overall seizure freedom (61.8% vs 68%) did not differ. In the past decade, a higher proportion of malformations of cortical development was operated (14.7% vs 35.9%, p: 0.007). SIGNIFICANCE: Our findings showed favorable long-term seizure outcome in children who underwent epilepsy surgery. The results are encouraging for developing centers with limited resources to establish pediatric epilepsy programs.
Assuntos
Epilepsia , Convulsões , Criança , Epilepsia/patologia , Epilepsia/cirurgia , Humanos , Procedimentos Neurocirúrgicos/métodos , Estudos Retrospectivos , Convulsões/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE: To identify physical fitness and activity levels, and health-related quality of life of children with epilepsy in Turkey and compare the results with their healthy peers. METHODS: The study included 21 children with epilepsy (with no seizures and not taking anti-epileptic drugs for at least a year) and 20 healthy peers. The FitnessGram Physical Fitness Test Battery was used to assess physical fitness, the 6-Minute Walk Test to assess physical performance, the Pediatric Quality of Life Inventory 4.0 (PedsQL) to assess the quality of life, and a pedometer was used to assess the physical activity of the children. RESULTS: The physical fitness assessments including the trunk-lift test and flamingo balance test results were significantly lower in the children with epilepsy (p < 0.05). There was no significant difference between the groups in terms of BMI, the cadence-based curl-up test, the push-up test and the back saver sit/reach test (p > 0.05). Physical activity, physical performance, and quality of life results were significantly lower in children with epilepsy (p < 0.05). CONCLUSION: The presence of epilepsy may negatively affect many aspects of physical fitness, physical activity, and quality of life in childhood. The children with epilepsy adopted a more sedentary lifestyle than their healthy peers. Quality of life outcomes reveal that epilepsy has negative physical and psychosocial effects on children. These results support the necessity of raising awareness in both health professionals and families to encourage their children to be more active.
Assuntos
Epilepsia , Qualidade de Vida , Criança , Epilepsia/psicologia , Exercício Físico/psicologia , Humanos , Aptidão Física , TurquiaRESUMO
ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented. Developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, and dysmorphic features are the characteristic findings of this new clinical entity, involving mainly nervous system and possibly connective tissue. Whole exome sequence analysis followed by Sanger sequencing in all family members revealed disease-causing 8 bp frameshift mutation depicted as NM_001128636.2: c.42_49delGGCCGCCA; p. (Ala15Profs*241) in ELFN1. The variant, located in the signal peptide domain in the ELFN1 gene, was found to be homozygous in three patients, and heterozygous in the parents and three healthy siblings. Segregation analysis in family members together with pathogenicity assessment tools strongly supported the damaging effect of the frameshift variant on the function of the ELFN1 protein. Mutations in ELFN1 gene may be considered in patients with neonatal and infantile-onset epileptic encephalopathy before the full clinical picture is apparent.
Assuntos
Deficiências do Desenvolvimento/genética , Instabilidade Articular/genética , Proteínas do Tecido Nervoso/genética , Espasmos Infantis/genética , Adolescente , Alelos , Células Cultivadas , Criança , Deficiências do Desenvolvimento/patologia , Feminino , Mutação da Fase de Leitura , Homozigoto , Humanos , Lactente , Instabilidade Articular/patologia , Masculino , Proteínas do Tecido Nervoso/metabolismo , Linhagem , Fenótipo , Espasmos Infantis/patologiaRESUMO
BACKGROUND: Paediatric Neurology (PN) is a discipline focused on diagnosis, comprehensive management and research into diseases of the central and peripheral nervous system from fetal life to transition into adulthood. The European Paediatric Neurology Society first designed and published the European PN training programme in the European Paediatric Neurology Syllabus in 2002. This was important in gaining recognition for the sub-specialty from the European Academy of Paediatrics and the European Academy of Neurology and in 2003 PN was recognized as a sub-specialty of paediatrics and neurology by the Board of the European Union of Medical Specialties. In 2004, the EPNS founded the Committee of National Advisors (CNA) that comprised representatives from national Paediatric Neurology societies, in order to further enhance Europe wide standards in training and practice., The EPNS Training Advisory Board (TAB) offers nation specific advice/support to PN societies on developing training and care systems. In 2019, the 2nd revision of the Paediatric Neurology Syllabus was approved by the EPNS Board and CNA. We aim to give an overview of the training of Paediatric Neurology (PN) specialists (i.e. Paediatric Neurologists), the relevant professional bodies and the current practice of Paediatric Neurology in Europe, as defined geographically by the World Health Organization. METHODS: A structured online data collection form was completed by CNA representatives from European countries. The data included training routes and structure of training, epidemiological data, nature of professional societies, organization of Paediatric Neurology care, research, academic life and recognition of the specialty. RESULTS: Data was collected from 43 European countries of which 38 have a national PN Society. In 10 (6 European Union (EU) and 4 non-EU countries) PN is recognized as a core specialty. In 26 countries PN is recognized as a sub-specialty of Paediatrics, Neurology or both (15 EU-11 non-EU). PN is not recognized as a core or sub-specialty in 7 countries (4 EU and 3 non-EU). In 35 countries paediatric neurologists begin their training from Paediatrics, but in 19 countries PN training from Neurology is also possible or the preferred route. Training in PN differs, but in over 50% of countries the three main training modules named in the 2019 2nd revision of the European PN Syllabus (PN, Paediatrics and adult Neurology) are included. Many countries have already adapted their curriculum to the suggestions in the European PN syllabus. CONCLUSIONS: There is diversity among European countries in terms of professional organization and PN training. The European PN syllabus has had impact on the development of PN training throughout Europe, independent of duration of training or route from paediatrics or neurology. The syllabus provides a basis for the future development of PN training, the recognition of PN as a (sub) specialty in individual countries and for improving the care of children with neurological disorders in Europe.
Assuntos
Neurologia/educação , Neurologia/organização & administração , Pediatria/educação , Pediatria/organização & administração , Adulto , Criança , Currículo/normas , Europa (Continente) , Humanos , Neurologia/normas , Pediatria/normas , Sociedades MédicasRESUMO
INTRODUCTION: The distribution of hippocampal sclerosis (HS) subtypes, according to the classification of the International League Against Epilepsy (ILAE), has been reported mainly in adult patients. We aimed to review the pathological findings in children who had anterior temporal lobectomy accompanied with amygdalohippocampectomy, in view of the current classification, and evaluate postsurgical outcome with respect to HS subtypes in childhood. METHODS: Seventy children who underwent temporal resections for treatment of medically refractory epilepsy, with a minimum follow-up of 2â¯years, were included; the surgical hippocampus specimens were re-evaluated under the HS ILAE classification. RESULTS: Neuropathological evaluations revealed HS type 1 in 38 patients (54.3%), HS type 2 in 2 (2.8%), HS type 3 in 21 patients (30%), and no HS in 9 patients (12.9%). Of 70 patients, 23 (32.9%) had dual pathology, and the most common pattern was HS type 3 with low-grade epilepsy-associated brain tumors (LEAT). The distribution of HS types with respect to age revealed that HS type 3 and no HS subgroups had significantly more patients younger than 12â¯years, compared with those of HS type 1 (90.5%, 77.8% vs 47.4%, respectively). History of febrile seizures was higher in HS type 1. Prolonged/recurrent febrile seizures were most common in patients 12â¯years and older, whereas LEAT was the most common etiology in patients under 12â¯years of age (pâ¯<â¯0.001). Patients with HS type 1 had longer duration of epilepsy and an older age at the time of surgery compared with patients with HS type 3 and no HS (p: 0.031, p: 0.007). At final visit, 74.3% of the patients were seizure-free. Seizure outcome showed no significant difference between pathological subtypes. CONCLUSIONS: Our study presents the distribution of HS ILAE subtypes in an exclusively pediatric series along with long-term seizure outcome. The study reveals that the leading pathological HS subgroup in children is HS type 1, similar with adult series. Hippocampal sclerosis type 2 is significantly less in children compared with adults; however, HS type 3 emerges as the second most predominant group because of dual pathology, particularly LEAT. Further studies are required regarding clinicopathological features of isolated HS in pediatric cohort. Seizure-free outcome was favorable and similar in all HS types in children. The proportion of HS types may be better defined in pediatric patients with temporal resections, as the current HS ILAE classification becomes more widely used, and may help reveal the surgical and cognitive outcome with respect to HS types.