Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Abstract Objective This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. Methods This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. Results Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. Conclusion Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.

Glioma tectal pediátrico con hidrocefalia y ventriculomegalia. Dos casos clínicos / Pediatric tectal glioma presented with acute hydrocephalus and ventriculomegaly. Two case reports

Los gliomas tectales representan un subtipo de tumores de bajo grado que se desarrollan en la región tectal, en la parte superior del tronco encefálico. Los síntomas incluyen los causados por el aumento de la presión intracraneal por hidrocefalia obstructiva. Son comunes la cefalea, la visión borrosa o doble, las náuseas y los vómitos. El tratamiento de la hidrocefalia es la ventriculostomía endoscópica del tercer ventrículo o la derivación ventrículo-peritoneal. Los gliomas tectales se diagnostican habitualmente en la infancia, pero son frecuentes también en adultos. En general son benignos y de progresión lenta; es suficiente el seguimiento ambulatorio clínico y radiológico. Se presentan dos pacientes pediátricos con tumores de la placa tectal mesencefálica. Un niño de 11 años y una niña de 15 años concurrieron al Departamento de Emergencias con diferentes síntomas. El niño fue tratado con derivación ventrículo-peritoneal por hidrocefalia aguda.

Tectal gliomas represent a subset of low-grade tumors that arise in the tectal region at the roof of the brainstem. Symptoms of tectal glioma include those caused by increased intracranial pressure due to obstructive hydrocephalus. Headache, blurred vision, double vision, nausea and vomiting are common symptoms. In the treatment, ETV (endoscopic third ventriculostomy) or VP-shunt (ventriculoperitoneal) can be applied to treat hydrocephalus. Tectal gliomas are usually diagnosed in childhood and often occur in adults. They are often benign, slowly progressing lesions; outpatient clinical and radiological followup is sufficient. We present two cases of pediatric patients with mesencephalic tectal plate tumors. An 11-year-old boy and a 15-year-old girl applied to the Emergency Department with different complaints. The 11 year-old-boy was treated with VP-shunt due to acute hydrocephalus.

Intestinal hypomagnesemia-two cases of recurrent seizures: a diagnostic odyssey

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder that is manifested as severe hypomagnesemia and moderate to severe hypocalcemia. Affected children present with refractory seizures in infancy. It results from mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6) on chromosome 9q22. The primary defect is impaired intestinal absorption of magnesium with secondary defect in the renal conservation of magnesium. We report two infants who presented with refractory seizures beginning in the first three months of life, the clinical phenotype of both these children was normal. Both were diagnosed to have hypocalcemic seizures. The children were managed with intravenous calcium and magnesium during their hospital stay, however were discharged on calcium supplementation alone. As they continued to have seizures inspite of good compliance to medications and in view of persistently low magnesium levels, hypomagnesemia as a cause of seizures was considered. Genetic evaluation revealed variants in the TRPM6 gene in both the cases The seizures were brought under control once the magnesium levels were normalized. A possibility of hypomagnesemia with secondary hypocalcemia should be thought of in any case of refractory hypocalcemia and inappropriately low levels of parathyroid hormone (PTH) The purpose of this series is to highlight the importance of systematically working up children with inherited hypomagnesemia.

The clinical, laboratory, etiological profile and outcome of acute necrotising encephalitis of childhood in tertiary care centre from western India

Acute necrotising encephalopathy of childhood (ANEC) is an encephalopathy that presents with viral prodrome accompanied by episodes of seizures and rapid alteration of consciousness. Many patients had a previous history of febrile illness before neurological worsening. Though there is no definite genetic cause, few genes are involved in familial forms of the disease. Geographically this disease is seen in East Asian countries involving infantile and childhood age. Radiological evaluation classically shows lesions involving thalami, cerebellum, brainstem, and white matter. We hereby report 4 cases hospitalized at a tertiary health care hospital with classical presentation, hallmark radiographic, and hematological picture. All four patients presented with varied neurological involvement including altered consciousness, status dystonicus, trismus, and status epilepticus following an acute febrile illness. Radiological involvement is classical in all with damage to the thalami, cerebellum, brainstem, and white matter, though the neurological presentation, duration, and outcome of all varied. All these 4 patients were thoroughly investigated and out of them 3 were managed with IVIG and MPS, the rest one with an immunosuppressive state managed symptomatically in a conservative manner, and all four were discharged with varied neurological morbidities. All of them offered symptomatic medical management, and physiotherapy from experts. ANEC is an acute deteriorating neurological disorder with a prior history of febrile illness. Neurological illness has hallmark clinical presentation with classical symmetrical brain involvement including thalami, cerebellum, brainstem, and white matter. Though having a varied clinical spectrum, it has responded well to immunotherapy by anti-inflammatory agents including IVIG and MPS.

Serum ferritin levels in children of simple febrile seizures in tertiary institute

Background: Seizure onset is impacted by a number of variables, including genetics, diet, geography, concurrent illnesses, metabolic state, history of head trauma, and blood levels of particular minerals. Due to the fact that iron is required for the proper functioning of a number of enzymes and neurotransmitters in the central nervous system, low blood ferritin levels may lower the seizure threshold. The aim of the study was to determine the association between serum ferritin levels and simple febrile seizures.Methods: The present observational study was conducted in department of pediatrics of a tertiary institute and included a total of 200 study subjects who visited to pediatric OPD/emergency room with febrile illness. The data was collected with the help of a structured clinical proforma. The collected data was recorded in Microsoft Excel sheet and statistical analysis was done with the help of SPSS version 21.0.Results: In our study, the maximum number of the study subjects were between 13 and 24 months (35%) with male to female ratio 1.2:1. In patients with simple febrile seizure the mean Hb level was 9.1�4 gm/dl, the mean MCV was 72.6�4 f1, mean MCH was 23.73�2 pg and mean serum ferritin was 13.4�5 ng/ml as compared to those patients with febrile illness without seizure the mean Hb level was 11.5�2 gm/dl, mean MCV was 82.1�5 f1, mean MCH was 29.6�9 pg and mean serum ferritin was 33.6�.2 ng/ml.Conclusions: It is concluded that the low serum ferritin level is a risk factor of simple febrile seizure.

Effect of Ethanolic Extract of Alternanthera sessilis on Behavioral Parameters in Reserpine-Induced Stroke and Seizure Rat Model

The primary aim of our study was to delve into the neuroprotective potential of an ethanolic extract sourced from Alternanthera sessilis, particularly in alleviating behavioural impairments induced by reserpine in rat models simulating stroke and seizures. Our investigation involved categorizing rats into five distinct groups, each consisting of six individuals, with separate sets allocated for different experimental interventions. Seizures and stroke-like symptoms were induced by administering reserpine, after which the rats underwent treatment with varying doses of Alternanthera sessilis ethanolic extract. We conducted a comprehensive assessment of various behavioural parameters, including antiepileptic activity, motor function, overall well-being, rota rod performance, closed field activity, and grip strength. Significantly, our results uncovered substantial improvements in antiepileptic activity, motor function, and overall health of the intervention group, which received the extract, to the control group after the administration period. Additionally, enhancements were noted in rota rod performance, closed field activity, and grip strength, indicative of a marked enhancement in neuroprotective effects. These encouraging findings highlight the potential therapeutic efficacy of Alternanthera sessilis extract in managing stroke and seizure disorders. Nevertheless, further extensive investigations are imperative to unravel the precise mechanisms underlying these observed enhancements. Furthermore, future research endeavors should focus on delineating the specific therapeutic applications of Alternanthera sessilis extract, thus facilitating its potential integration into clinical practice for the management of stroke and seizure-related conditions. This would pave the way for a more comprehensive understanding of its therapeutic benefits and broaden its scope for clinical utility.

Bases neurobiológicas de la epilepsia neonatal y sus comorbilidades / Neurobiological basis of neonatal epilepsy and its co morbilities

Resumen La aparición de convulsiones es frecuente durante el periodo neonatal debido a las características de inma durez funcional del cerebro es este periodo. La aparición de estas convulsiones puede llevar a un diagnóstico de epilepsia neonatal, que suele estar asociado a alteracio nes estructurales del cerebro durante el neurodesarrollo. Aproximadamente el 50% de las personas con epilepsia activa padecen al menos un trastorno médico comórbi do, y esto hace que cambie la evolución de la epilepsia. La presencia de trastornos neurológicos que preceden a la aparición de la epilepsia indica que alteraciones es tructurales y/o funcionales del cerebro subyacentes pue den ser causa de la predisposición a padecer epilepsia y de los procesos comórbidos de manera independiente. En esta revisión describimos los procesos cerebrales estructurales y funcionales que subyacen a la aparición de epilepsia neonatal y sus comorbilidades.

Abstract The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain.The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually as sociated with structural alterations of the brain during neurodevelopment. Approximately 50% of people with active epilepsy have at least one comorbid medical di sorder, and the existence of a comorbid process changes the course of the epilepsy. The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may indepen dently cause the predisposition to epilepsy and comor bid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.

Eclampsia atípica tardía: compromiso inusual con proteinuria, pero sin hipertensión / Late atypical eclampsia: unusual involvement with proteinuria, but without hypertension

RESUMEN Paciente primigesta de 27 años, sin antecedentes médicos de importancia y con un apropiado control prenatal, quien recibió atención por parto vaginal a las 39 semanas de gestación con anestesia epidural. Una hora después del parto, presentó cefalea holocraneana a predominio derecho, tratada con antiinflamatorios y relajantes muscular por indicación del servicio de neurología. Horas después de su alta, al tercer día posparto, presentó convulsiones tónico-clónicas bilaterales. Por un examen de orina con proteinuria (+) en tira reactiva y elevaciones discretas de la presión arterial, se solicitó un conteo de proteínas en 24 horas, con valores en 1094,5 mg (valor normal: 0-140). La resonancia magnética con contraste solicitada durante su admisión fue normal, recibiendo tratamiento con fenitoína y sulfato de magnesio durante su hospitalización. Fue dada de alta al quinto día, con controles posteriores por consultorio externo, sin cefalea, proteinuria y/o hipertensión.

ABSTRACT A 27-year-old primigravida patient without a relevant medical history and appropriate prenatal control received attention for vaginal delivery at 39 weeks of gestation. One -hour later, she experienced holocranial headache with right predominance, treated with anti-inflammatories and muscle relaxants by the indication of a neurologist. Hours after her discharge, on the third day post-partum, she developed bilateral tonic-clonic seizures.. Following a urine test in the emergency room with proteinuria (+) in a dipstick, we tested 24-hour protein count in 1094 mg (normal values 0-140). Magnetic resonance with contrast at admission was normal. She received Phenytoin and Magnesium Sulfate during her hospitalization. The evolution was favorable, and he was discharged at five days with ambulatory controls in the medical office without headache, proteinuria, and/or hypertension.

Evaluating the role of hemogram based parameters in febrile seizures

Background: One of the most common childhood neurological disorders is febrile seizures (FS). Parents may have trouble describing the events pertaining to seizures, which might lead to aberrations in the diagnosis and classification of FS. Hence, objective biomarkers to predict and classify FS will be clinically beneficial. The aim of this study was to evaluate role of hemogram based parameters (NLR, PLR, RDW, MPV) in the outcome of children with febrile seizures (FSs) and in differentiating between simple and complex febrile seizures. Methods: A total of 50 patients with FSs (group A) who were hospitalized in our hospital were selected. Fifty patients with fever and without seizures (group B). The results of hemogram were collected retrospectively and analysed. Results: The hemogram analysis showed that hemoglobin (Hb) in group A was significantly lower than in the group B (p<0.05). The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR), MPV and RDW in group A was significantly higher than in group B. The MPV and NLR values in the CFS group was higher in comparison to SFS group (p<0.05). Conclusions: As statistically significant differences were found in the hemogram parameters like HB, RDW, MPV, NLR PLR between febrile seizure group and non-febrile seizure group, these parameters can aid in diagnosing the same. High NLR and MPV levels may be able to serve as simple yet effective laboratory indicator for distinguishing between simple and complex febrile seizures.

Risk factors of secondary epileptic seizures in children with febrile seizures and construction of nomogram prediction model / 中国医师进修杂志

Objective:To analyze the risk factors of secondary epileptic seizures in children with febrile seizures and to construct a nomogram prediction model.Methods:A total of 235 children with febrile seizures who were admitted to Enshi State Hospital for Nationalities from August 2018 to September 2021 were selected. According to whether the children had secondary epileptic seizures during the 6-month follow-up, the children were divided into the seizure group (62 cases) and no-seizure group (173 cases). The best cut-off value of each factor were obtained by the receiver operating characteristic (ROC). Multivariate Cox regression analysis was used to analyze the independent risk factors of secondary seizures in children with febrile seizures. The R software "rms" package was constructed to predict secondary seizures in children with febrile seizures. High-risk nomogram models, calibration curves was used for internal validation of nomogram models, and decision curves to assess the predictive power of nomogram models.Results:The age of the patients in the seizure group was lower than that in the no-seizure group: (14.45 ± 1.54) months vs. (21.47 ± 2.18) months; and the proportion of family history of epilepsy, the proportion of perinatal (abnormal), the proportion of seizure type (comprehensive), the proportion of electroencephalogram (EEG) (abnormal), the number of seizures, the duration of seizure, the tumor necrosis factor-alpha (TNF-α) level in the seizure group were higher than those in the no-seizure group: 56.45%(35/62) vs. 35.84%(62/173), 59.68% (37/62) vs. 15.61%(27/173), 70.97%(44/62) vs. 36.99% (64/173), 74.19% (46/62) vs. 20.81% (36/173), (5.45 ± 2.32) times vs. (2.04 ± 1.02) times, (18.89 ± 4.29) min vs. (12.62 ± 2.34) min, (25.65 ± 5.32) ng/L vs.(18.21 ± 2.29) ng/L, there were statistical differences ( P<0.05). The area under the curve (ACU) of age, number of convulsions, duration of convulsion, and TNF-α were 0.906, 0.913, 0.899, and 0.890, respectively; the best cut-off values were 3 years, 4 times, 15 min, 21 ng/L; age (≤3 years), family history of epilepsy (yes), type of seizures (generalized), perinatal period (abnormal), number of seizures (≥4 times), duration of seizures (≥15 min) were febrile seizures independent risk factors for secondary epileptic seizures in children ( P<0.05), the C-index of this nomogram prediction model was 0.744 (0.567-0.932); the decision curve showed that when the risk threshold was greater than 0.11, the clinical net benefit provided by this prediction model. The benefits were all higher than individual independent risk factors and provided a significant additional net clinical benefit in predicting a high risk of seizures secondary to febrile seizures in children with febrile seizures. Conclusions:This study constructed a nomogram model of the risk of secondary seizures in children with febrile seizures based on age, family history of epilepsy, type of seizures, perinatal period, number of seizures, and duration of seizures. Important strategic guidance.

Neurocisticercosis infantil. A propósito de un caso / Infantile neurocysticercosis. About a case

La neurocisticercosis es una de las infecciones parasitarias más frecuentes, originada por la larva de la Taenia solium al invadir el sistema nervioso central. Esta patología es endémica de algunos países de África, y está relacionada con hábitos dietéticos, costumbres, higiene y factores socioeconómicos, con mayor incidencia en pacientes escolares y adolescentes, aunque puede presentarse a cualquier edad. Su clínica es variable, unida a criterios epidemiológicos que hacen indispensable al médico de asistencia realizar examen clínico y estudios imagenológicos. Se presenta el caso clínico de una niña de 10 años de edad procedente de Kuito-Bie, Angola, que acude a consulta de neurología, con pérdida de la visión de aproximadamente seis meses de evolución, disminución de la fuerza muscular, episodios de alucinaciones, lenguaje incoherente y convulsiones tónico-clónicas generalizadas de siete días de evolución. Se solicita, de urgencia, una tomografía axial computarizada de cráneo, donde se confirma neurocisticercosis activa, con epilepsia sintomática en el curso de la misma. Los hallazgos clínicos e imagenológicos permiten un diagnóstico oportuno y tratamiento eficaz, lo que determina la evolución clínica de la neurocisticercosis en la infancia, según el estadio clínico y la respuesta inmunológica del huésped(AU)

Neurocysticercosis is one of the most frequent parasitic infections caused by the larva of Taenia solium when invading the central nervous system. This pathology is endemic to some African countries, and is related to dietary habits, customs, hygiene and socioeconomic factors, with a higher incidence in school patients and adolescents, although it can occur at any age. Its clinical symptoms are variable, linked to epidemiological criteria that make it essential for the attending physician to perform a clinical examination and imaging studies It is presented the clinical case of a 10-year-old girl from Kuito-Bie, Angola, who attended the neurology clinic with vision loss of approximately 6 months of evolution, decreased muscle strength, episodes of hallucinations, incoherent speech, and generalized tonic-clonic seizures of 7 days of evolution. An emergency computed axial tomography of the skull was requested, where active neurocysticercosis is confirmed, with symptomatic epilepsy in its course. Clinical and imaging findings allow timely diagnosis and effective treatment, which determines the clinical evolution of neurocysticercosis in childhood, depending on the clinical stage and the host's immune response(AU)

Neutrophil-lymphocyte ratio, red cell distribution width and mean platelet volume as practical markers in febrile seizure classification / Proporção entre linfócitos e neutrófilos, amplitude de distribuição de hemácias e volume médio de plaquetas como marcadores práticos na classificação de convulsões febris

ABSTRACT Objective: To examine the neutrophil-lymphocyte ratio, red cell distribution width and mean platelet volume in patients with febrile seizure and to determine their role in febrile seizure classification. Methods: This was a retrospective hospital-based study conducted among patients aged 5 to 72 months admitted with febrile seizure. Children who had febrile seizures due to upper respiratory tract infection were included in the study. The children were divided into two groups: simple febrile seizures and complex febrile seizures. Patients with a history of febrile status epilepticus, previous convulsions, use of antiepileptic or other chronic drugs, foci of infection other than the upper respiratory tract infection, abnormal biochemical parameters, and chronic mental or physical disease were excluded from the study. Clinical and laboratory findings of the patients were obtained from digital medical records. Results: The records of 112 febrile seizure patients were reviewed, and 89 were grouped as simple and 23 as complex febrile seizures. Although there was no statistically significant difference between the two groups in terms of the mean red cell distribution width values (p=0.703), neutrophil-lymphocyte ratio and mean platelet volume were significantly higher in patients with complex febrile seizures (p=0.034, p=0.037; respectively). Conclusions: This study showed that neutrophil-lymphocyte ratio and mean platelet volume could be practical and inexpensive clinical markers for febrile seizure classification. A similar result could not be reached for red cell distribution width in this study. These findings should be supported by multicenter studies with large samples.

RESUMO Objetivo: Examinar a relação linfócitos-neutrófilos, amplitude de distribuição de hemácias e volume médio de plaquetas em pacientes com convulsão febril, e determinar seu papel na classificação de convulsão febril. Métodos: Este foi um estudo retrospectivo de base hospitalar realizado com pacientes de 5 a 72 meses admitidos com convulsão febril. Crianças que tiveram convulsões febris em razão de infecção do trato respiratório superior foram incluídas no estudo. As crianças foram divididas em dois grupos: convulsões febris simples e complexas. Pacientes com história de Status epiléptico febril, convulsões prévias, uso de drogas antiepilépticas ou outras drogas crônicas, com focos de infecção que não a do trato respiratório superior, parâmetros bioquímicos anormais e doenças crônicas mentais ou físicas foram excluídos do estudo. Os achados clínicos e laboratoriais dos pacientes foram obtidos a partir dos prontuários médicos digitais. Resultados: Registros de 112 pacientes com convulsão febril foram revisados: 89 com convulsões febris simples e 23 com complexas. Embora não tenha havido diferença estatisticamente significativa entre os dois grupos em termos de valor médio de amplitude de distribuição de hemácias (p=0,703), a relação linfócitos-neutrófilos e o volume médio de plaquetas foram significativamente mais elevados em pacientes com convulsões febris simples (p=0,034, p=0,037; respectivamente). Conclusões: Este estudo mostrou que a relação linfócitos-neutrófilos e o volume médio de plaquetas podem ser marcadores clínicos práticos e de baixo custo para a classificação de convulsão febril. Um resultado semelhante não pôde ser alcançado para a amplitude de distribuição de hemácias neste estudo. Esses achados devem ser apoiados por estudos multicêntricos com grandes amostras.

Association entre l'anémie ferriprive et les convulsions fébriles chez les enfants âgés de 6 mois à 60 mois à Yaoundé / Iron Deficiency Anemia and Febrile Seizures in Children Aged 6 to 60 Months in Yaounde

Introduction.Les convulsions fébriles (CF) sont l'une des affections neurologiques les plus courantes de l'enfance. Plusieurs théories, telles que l'anémie ferriprive, ont été proposées comme pathogénie de cette affection. L'objectif de cette étude était de déterminer l'association entre l'anémie ferriprive et les convulsions fébriles chez les enfants âgés de 6 mois à 60 mois.Méthodologie. Il s'agissait d'une étude cas-témoins menée de Janvier à Mai 2021 chez 43 enfants ayant des CF (cas) et 43 enfants fébriles sans convulsions (témoins) admis dans deux hôpitauxà Yaoundé. Les deux groupes étaient appariés en fonction de l'âge et du sexe. Chez tous, le taux d'hémoglobine, le volume globulaire moyen(VGM), la teneur corpusculaire moyenne en hémoglobine (CCMH) et la ferritine plasmatique ont été déterminés.Résultats.L'âge moyen était de 23 mois. Les antécédents familiaux de convulsions fébriles(CF)étaient retrouvés dans 27,9 % des cas. Les CF simples étaient les plus fréquentes (69,8%) avec une prédominance des crises tonicocloniques généralisées (74,4%). Les infections ORL et le paludisme étaient les causes de la fièvre dans 72,1% des cas. Les enfants avec convulsions fébriles avaient trois fois plus de risque d'avoir une anémie comparée aux témoins (P), par contre les valeurs moyennes , TCMH n'étaient pas significativement différents dans les deux groupes. Les deux groupes présentaient une carence martiale mais sans différence significative. Conclusion.Les enfants avec CF présentaient plus d'anémie, mais la carence en fer bien que présente dans les deux groupes l'était sans différence significative

ntroduction.Febrile convulsions (FC) are one of the most common neurological disorders in childhood. Several theories, such as iron deficiency anemia, have been proposed as the pathogenesis of this condition. The aim of this study was to determine the association between iron deficiency anemia and febrile convulsions in children aged 6 to 60 months. Methodology.This was a case-control study conducted from January to May 2021 involving 43 children with FC (cases) and 43 febrile children without convulsions (controls) admitted to two hospitals in Yaoundé. The two groups were matched for age and sex. Hemoglobin levels, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), and plasma ferritin levels were determined in all participants. Results.The average age was 23 months. Family history of febrile convulsions (FC) was found in 27.9% of cases. Simple FC were the most common (69.8%) with a predominance of generalized tonic-clonic seizures (74.4%). ENT infections and malaria were the causes of fever in 72.1% of cases. Children with febrile convulsions were three times more likely to have anemia compared to controls (P= 0.028), however, the average values of MCV and MCHC were not significantly different in the two groups. Both groups had iron deficiency but without significant differences. Conclusion.Children with FC had more anemia, but iron deficiency

Ketogenic diet in pharmacoresistant epilepsies: a clinical nutritional assessment / Dieta cetogênica na epilepsia fármaco-resistente: avaliação clínica-nutricional

Abstract Background Epilepsies are among the most prevalent chronic neurological diseases, usually beginning in childhood. About 30% of children with epilepsies develop seizures that are difficult to control with medication. Recurrent epileptic seizures hinder diet intake, impairing the nutritional status. Although non-pharmacological interventions (e.g., ketogenic diet therapy) can improve epileptic seizure frequency, few studies analyzed their impact on the nutritional status of children and adolescents with epilepsies. Objective The aim was to evaluate the effects of a ketogenic diet on the nutritional status and clinical course of patients with pharmacoresistant epilepsies. Methods This cross-sectional study included patients under 18 years of age followed up at the Ketogenic Diet Ambulatory Clinic of the Instituto de Medicina Integral Prof. Fernando Figueira between December 2015 and December 2021. Socioeconomic, clinical, nutritional, and laboratory data were collected from medical records at different time points during the ketogenic diet. Results The sample comprised 49 patients aged between 5 months and 17 years (median = 4.4 years), mostly male (62.1%), and from Recife and the metropolitan region (51%). Underweight patients (BMI-for-age) improved their nutritional status in six months. However, patients who were normal weight and overweight maintained their nutritional status. Dyslipidemia was a common and short-term adverse effect. Moreover, the treatment decreased epileptic seizure frequency and antiseizure medication intake. Conclusion The ketogenic diet prevented malnutrition from worsening and reduced epileptic seizures and antiseizure medication intake.

Resumo Antecedentes A epilepsia, uma das doenças neurológicas crônicas mais prevalentes, tem geralmente início na infância. Cerca de 30% das crianças com epilepsia desenvolvem crises de difícil controle medicamentoso. As crises epilépticas recorrentes dificultam a ingestão alimentar, prejudicando o estado nutricional. Intervenções não farmacológicas, como a terapia com dieta cetogênica, podem melhorar a frequência das crises epilépticas, mas existem poucos estudos sobre a repercussão no estado nutricional da criança/adolescente. Objetivo Avaliar o efeito da terapia cetogênica sobre o estado nutricional e a evolução clínica da epilepsia fármaco-resistente. Métodos Estudo tipo corte transversal envolvendo menores de 18 anos acompanhados no Ambulatório de Dieta Cetogênica do Instituto de Medicina Integral Prof. Fernando Figueira entre dezembro de 2015 e dezembro de 2021. Dados socioeconômicos, clínicos, nutricionais e laboratoriais foram coletados nos prontuários dos pacientes em vários momentos da terapia cetogênica. Resultados A amostra foi composta por 49 pacientes com idades entre cinco meses e 17 anos (mediana = 4,4 anos), a maioria do sexo masculino (62,1%) e procedentes de Recife e região metropolitana (51%). Pacientes com baixo peso (de acordo com o IMC para idade) melhoraram seu estado nutricional em seis meses. No entanto, os pacientes com peso adequado e com sobrepeso mantiveram seu estado nutricional. A dislipidemia foi um efeito adverso frequente e de curta duração. Além disso, o tratamento reduziu a frequência de crises epilépticas e a dose de fármacos anticrises. Conclusão A dieta cetogênica preveniu o agravamento da desnutrição e reduziu as crises epilépticas e a dosagem de fármacos anticrises.

Autoimmune encephalitis in a resource-limited public health setting: a case series analysis / Encefalite autoimune em um hospital universitário público: análise de uma série de casos

Abstract Background Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. Objective To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. Methods We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. Results Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. Conclusion In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.

Resumo Antecedentes A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. Objetivo Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. Métodos Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. Resultados Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. Conclusão No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.

Boswellia serrata intoxication manifesting with syndrome of inappropriate antidiuretic hormone secretion, hyponatremia, seizure, and rhabdomyolysis / Intoxicação por Boswellia serrata manifestando-se com síndrome da secreção inapropriada de hormônio antidiurético, hiponatremia, convulsão e rabdomiólise

ABSTRACT Boswellia serrata is an herbal extract from the Boswellia serrata tree that has anti-inflammatory and analgesic properties and alleviates pain caused by rheumatoid arthritis, gout, osteoarthritis, and sciatica. Syndrome of inappropriate antidiuretic hormone secretion accompanied by hyponatremia, seizures, and rhabdomyolysis as a manifestation of Boswellia serrata intoxication has not been reported previously. A 38-year-old female suffered clinically isolated syndrome and has since been regularly taking B. serrata capsules (200mg/d) to strengthen her immune system. She experienced hypersensitivity to light, ocular pain, nausea, dizziness, and lower limb weakness four days after receiving her first BNT162b2 vaccine dose, and she increased the dosage of B. serrata to five capsules (1000mg/d) one week after vaccination. After taking B. serrata at a dosage of 1000mg/d for 3 weeks, she was admitted to the intensive care unit because of a first, unprovoked generalized tonic-clonic seizure. The patient's workup revealed syndrome of inappropriate antidiuretic hormone secretion, which resolved completely upon treatment and discontinuation of B. serrata. In summary, B. serrata potentially causes syndrome of inappropriate antidiuretic hormone secretion when it is taken at high doses. Patients should not self-medicate.

RESUMO Boswellia serrata é um extrato herbal da árvore Boswellia serrata que possui propriedades anti-inflamatórias e analgésicas e alivia a dor ciática e causada por artrite reumatoide, gota, osteoartrite. Não há relato na literatura de síndrome da secreção inapropriada do hormônio antidiurético, acompanhada por hiponatremia, convulsões e rabdomiólise, como manifestação de intoxicação por Boswellia serrata. Uma mulher de 38 anos diagnosticada com síndrome clinicamente isolada tomava regularmente cápsulas de B. serrata (200mg/dia) para fortalecer seu sistema imunológico. Ela desenvolveu hipersensibilidade à luz, dor ocular, náusea, tontura e fraqueza nos membros inferiores 4 dias após tomar a primeira dose da vacina BNT162b2 e aumentou a dose de B. serrata para 1.000mg/dia 1 semana após a vacinação. Após tomar B. serrata na dose de 1.000mg/dia por 3 semanas, ela foi internada na unidade de terapia intensiva devido à convulsão tônico-clônica generalizada não provocada. A investigação diagnóstica revelou síndrome da secreção inapropriada de hormônio antidiurético, que se resolveu completamente após tratamento e interrupção do uso de B. serrata. Em resumo, é possível que B. serrata cause síndrome da secreção inapropriada do hormônio antidiurético quando tomada em doses elevadas. Os pacientes não devem se automedicar.

Estrategias de afrontamiento en adultos con crisis funcionales disociativas: Una revisión sistemática / Coping strategies in adults with functional dissociative seizures: A systematic review

Resumen Introducción: las crisis funcionales disociativas (CFD) son episodios que se asemejan a las crisis epilépticas, pero son causadas por diversos factores biopsicosociales. La forma en la que estos pacientes enfrentan los desafíos de su padecimiento se ha considerado un importante factor mantenedor. El objetivo de esta revisión sistemática es identificar las estrategias de afrontamiento utilizadas por pacientes adultos con CFD, y los instrumentos usados para evaluarlas. Método: la revisión se realizó siguiendo la guía PRISMA. Se hizo una búsqueda en las bases de datos Pubmed, Cochrane Library, Scielo, Science Direct y Lilacs. Resultados: once artículos cumplieron con los criterios de inclusión y se integraron en una síntesis narrativa. Los pacientes con CFD utilizan más estrategias de evitación y centradas en la emoción que la población general. Su uso excesivo se ha relacionado a una mayor psicopatología, una peor calidad de vida y mayor malestar frente al estrés. Por otro lado, la diversidad de instrumentos de evaluación del afrontamiento refleja la heterogeneidad del campo. Conclusiones: más investigaciones son necesarias para comprender las estrategias de afrontamiento de los pacientes con CFD y ofrecer un tratamiento más personalizado y efectivo.

Abstract Introduction: Functional dissociative seizures (FDS) are episodes that resemble epileptic seizures, but are caused by different biopsychosocial factors. The way in which these patients cope with the challenges of their condition has been considered an important maintaining factor. The aim of this systematic review is to identify the coping strategies used by adult patients with FDS, and the measures used to assess them. Methods: The review was conducted following the PRISMA guidelines. A search was conducted in Pubmed, Cochrane Library, Scielo, Science Direct and Lilacs databases. Results: Eleven articles met the inclusion criteria and were integrated into a narrative synthesis. FDS patients use more avoidance and emotion-focused strategies than the general population. Their excessive use has been related to greater psychopathology, poorer quality of life and greater distress in the face of stress. On the other hand, the diversity of coping assessment instruments reflects the heterogeneity of the field. Conclusions: More research is needed to understand the coping strategies of FDS patients and to offer more personalized and effective treatment.

Beneficio de la cirugía en un caso de crisis epilépticas focales motoras negativas secundarias a displasia cortical parietal / Benefit of surgery in a case of negative motor focal epileptic seizures secondary to parietal cortical dysplasia

Resumen Las crisis atónicas focales son poco reconocidas como fenómenos ictales, pueden corresponder tanto a una epilepsia generalizada como a una epilepsia focal. Las áreas del cerebro implicadas en la gestión de este tipo de crisis son: el área motora negativa y las cortezas motora primaria y somatosensitiva primaria, aunque aún la neurofisiología que las genera no está aclarada. Presentamos el caso de un paciente con crisis atónicas focales farmacorresistentes en miembro superior iz quierdo. Se realizó resonancia de cerebro con diagnóstico de displasia cortical parietal, se monitoreó con video EEG de scalp y luego a video EEG con electrodos profundos. Se definieron el área epileptógena y su relación con áreas elocuentes, se realizó resección quirúrgica de la lesión, logrando el control completo de las crisis.

Abstract Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain in volved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment. Neuroimaging was performed, a parietal cortical lesion was diagnosed. A scalp Video EEG and then a Stereo EEG was performed, defining the epileptogenic area and its relationship with eloquent areas. Surgical resection of the lesion was performed, achieving complete seizure control.

Clinical profile and laboratory parameters of febrile seizures: a hospital based cross-sectional study in sub-Himalayan region

Background: Febrile seizures occur commonly in the age group of 6 to 60 months, clinical spectrum is variable and range from single, brief episode to status epilepticus which can further progress to long term consequences. There is very limited data available from sub-Himalayan belt of northern India, hence the present study was planned to know the clinical spectrum, pattern of lab parameters and their association as a risk factor for occurrence of seizures.Methods: A hospital based cross-sectional study was conducted in the department of paediatrics of Indira Gandhi Medical college, Shimla, Himachal Pradesh. All children between 6 to 60 months admitted in our institute during the study period of July 2021 to June 2022 with diagnosis of febrile seizure were considered for the study.Results: A total of 120 children were included in the present study with a mean age of 26.6�.2 months. Majority of the study subjects were from rural area (74.2%) and male had slightly higher representation (55.8%). Generalised tonic-clonic seizure (78.3%) was the most common phenotypic presentation, cases with SFS constituted 61.7% and CFS was observed in 38.3% of study subjects. Raised ESR values, elevated CRP values and leucocytosis had significant association in occurrence of CFS.Conclusions: The study provides valuable insights into the different phenotypic presentations and characteristics of febrile seizures in the study population. The study further identifies a statistically significant association between certain inflammatory markers and CFS.

A case of concomitant connective tissue disorder and thrombotic thrombocytopenic purpura in an Indian middle aged female

Thrombotic thrombocytopenia (TTP) is a rare disease which is rarely present in adults. Adults usually have an acquired version of disease, associated with some underlying autoimmune disease. There has been paucity of literature about reports which shows the coexistence of connective tissue disorder in patients of acquired TTP. This is a case report of a female who presented with vague symptoms of breathlessness, abdominal pain and petechial rashes and was diagnosed as TTP, developed neurological complications but was stabilized by timely management through plasma exchanges and steroids.