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1.
Rev. cuba. pediatr ; 93(3): e1322, 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1347541

ABSTRACT

Introducción: La COVID-19 es una enfermedad que ha mostrado una baja morbilidad y mortalidad en pediatría. Las crisis febriles constituyen una de las causas más frecuentes de admisión en los servicios de urgencia y de interconsultas con el neuropediatra. Objetivo: Interpretar la presencia de crisis febril simple en pacientes admitidos en servicios de urgencia pediátricos como manifestación inicial de COVID-19. Presentación del caso: Paciente femenina de un año de edad, con antecedentes de salud anterior que acude al cuerpo de guardia con fiebre de 38 ℃; y crisis motora, de inicio generalizada, tónico-clónica, que cedió con medidas antitérmicas. Por protocolo se realiza punción lumbar la cual resulta negativa. Se ingresa, 24 horas después comienza con manifestaciones catarrales, se hace otoscopia y se diagnostica una otitis media aguda, por lo que se inicia tratamiento antibiótico. Se realiza la prueba de reacción en cadena de la polimerasa para la COVID-19 con resultado positivo, por lo que se remite para el Hospital Pediátrico "San Miguel del Padrón". Conclusiones: Se debe sospechar la presencia de COVID-19 ante paciente que acude a servicio de urgencias por una crisis febril, como único problema de salud. LA COVID-19 es una enfermedad que ha demostrado que se puede presentar de diversas formas(AU)


Introduction: COVID-19 is a disease that has shown low morbidity and mortality in pediatrics. Febrile crises are one of the most common causes of admission to emergency services and consultations with the neuropediatrician. Objective: Interpret the presence of simple febrile crisis in patients admitted to pediatric emergency services as an initial manifestation of COVID-19. Case presentation: One-year-old female patient, with a previous health history, who is attended in the emergency service with a fever of 38 ℃; and motor crisis, of widespread onset, with tonic-clonic seizures, which yielded with antypiretic measures. By protocol, lumbar puncture is performed which is negative. She was admitted, and 24 hours later there is an onset of catarrhal manifestations; an otoscopy is performed and acute otitis media is diagnosed, so antibiotic treatment is initiated. The polymerase chain reaction test for COVID-19 (PCR) is performed with a positive result, so, the patient is referred to the "San Miguel del Padrón" Pediatric Hospital. Conclusions: COVID-19 should be suspected in patients who attend to the emergency services due to a febrile crisis as the only health problem. COVID-19 is a disease that has been shown to occur in a variety of ways(AU)


Subject(s)
Humans , Female , Infant , Otitis Media/diagnosis , Seizures, Febrile/diagnosis , Emergencies , COVID-19/epidemiology
2.
Clin. biomed. res ; 41(1): 91-93, 2021. ilus
Article in English | LILACS | ID: biblio-1254916

ABSTRACT

Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). (AU)


Subject(s)
Humans , Female , Child, Preschool , Neuroaxonal Dystrophies/diagnosis , Iron Metabolism Disorders/diagnosis , Seizures, Febrile , Language Development Disorders , Carrier Proteins/genetics , Neuroaxonal Dystrophies/genetics , Iron Metabolism Disorders/genetics
3.
Article in Chinese | WPRIM | ID: wpr-921981

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a girl with febrile convulsion as the main manifestation.@*METHODS@#The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.@*RESULTS@#The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.@*CONCLUSION@#16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.


Subject(s)
Child , DNA Copy Number Variations , Epilepsy , Female , Humans , Seizures/genetics , Seizures, Febrile/genetics , Whole Exome Sequencing
4.
Article in Chinese | WPRIM | ID: wpr-888477

ABSTRACT

Febrile seizures are the most common nervous system disease in childhood, and most children have a good prognosis. However, some epilepsy cases are easily induced by fever and are characterized by "fever sensitivity", and it is difficult to differentiate such cases from febrile seizures. Epilepsy related to fever sensitivity includes hereditary epilepsy with febrile seizures plus, Dravet syndrome, and


Subject(s)
Cadherins/genetics , Child , Epilepsy/genetics , Epileptic Syndromes , Humans , Mutation , Seizures, Febrile/genetics
5.
Article in Chinese | WPRIM | ID: wpr-888385

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+).@*METHODS@#Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.@*RESULTS@#The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.@*CONCLUSION@#The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.


Subject(s)
Epilepsy/genetics , Humans , /genetics , Pedigree , Phenotype , Seizures, Febrile/genetics
6.
Article in Chinese | WPRIM | ID: wpr-879859

ABSTRACT

OBJECTIVE@#To study the change and significance of hippocampal volume (HCV) in children with recurrent febrile seizures.@*METHODS@#A retrospective analysis was performed on the medical data and examination results of 34 children with recurrent febrile seizures who underwent two magnetic resonance plain scans of the head and the hippocampus from January 1, 2013 to September 30, 2019. According to the follow-up time, they were divided into the first follow-up group and the second follow-up group. According to prognosis, they were divided into a febrile seizure group, a non-febrile group and an epilepsy group. The change in HCV was analyzed and compared.@*RESULTS@#Total HCV was positively correlated with age (@*CONCLUSIONS@#HCV gradually increases with age in children with recurrent febrile seizures. Persistent seizures may damage the development of the hippocampus.


Subject(s)
Child, Preschool , Hippocampus/diagnostic imaging , Humans , Infant , Magnetic Resonance Imaging , Retrospective Studies , Seizures , Seizures, Febrile
7.
Rev. chil. infectol ; 36(6): 750-755, dic. 2019. tab
Article in Spanish | LILACS | ID: biblio-1058107

ABSTRACT

Resumen Introducción: Las convulsiones febriles son eventos supuestamente atribuidos a la vacunación e inmunización (ESAVI) frecuentemente asociados a vacuna difteria - tétanos- pertussis a células completas. Objetivo: Analizar la asociación de convulsiones febriles con la administración de la vacuna pentavalente en niños bajo 2 años de edad asistidos en el Centro Hospitalario Pereira Rossell durante el año 2014. Material y Métodos: Estudio de series de casos auto-controlados. Se incluyeron niños procedentes de Montevideo con 2 a 24 meses de edad con diagnóstico de convulsión febril. Se estimó el riesgo relativo (RR) de los períodos de riesgo (0 a 3 días) y de lavado (4a 14 días), en comparación con el período de no riesgo (más de 14 días). Resultados: Se registraron 135 convulsiones febriles, que ocurrieron en 114 niños; 16 niños presentaron dos o más episodios. El total de eventos ocurridos en el período de riesgo fueron 7 (5,2%) y 8 (5,9%) en el período de lavado. El período de riesgo mostró un RR significativo de 4,14 (IC 95%: 1,73; 8,36). Conclusiones: Este trabajo permitió establecer una línea de base nacional sobre el riesgo de convulsiones febriles asociadas con la vacunación pentavalente al utilizar por primera vez en el país una metodología específica para tal fin.


Background: Febrile seizures are VAERS often associated with whole-cells Diphtheria-Pertussis-Tetanus vaccines. Aim: To analyze the association of febrile seizures with the administration of pentavalent vaccine in children under two-years-old assisted in the Centro Hospitalario Pereira Rossell (CHPR), in Montevideo during 2014. Methods: Self-controlled case series study. We included children from Montevideo from two to 24-month-old at the time of admission, with diagnosis of febrile seizure at the time of discharge. We estimated the relative risk in three time periods: 0 to 3 days (risk period), 4 to 14 days (wash-out) and more than 14 days after vaccination (no-risk). Results: We recorded 135 febrile seizures in 114 children, 16 of whom presented two or more events. The total number of events was 7 (5.2%) in risk periods and 8 (5.9%) in wash-out periods. The risk period showed a significantly increased risk (RR = 4.14, CI 95% = [1.73; 8.36]). Conclusions: This work allowed us to establish a national base line for the risk of febrile seizures associated with pentavalent vaccination, by using for the first time in the country a methodology specifically designed for this goal.


Subject(s)
Humans , Infant , Child, Preschool , Child , Seizures, Febrile/chemically induced , Uruguay/epidemiology , Diphtheria-Tetanus-Pertussis Vaccine , Watchful Waiting , Hospitals
8.
Med. infant ; 26(3): 267-271, sept. 2019. Tab
Article in Spanish | LILACS | ID: biblio-1023724

ABSTRACT

Introducción: El estado epiléptico (EE) es la emergencia neurológica más frecuente en pediatría. Los pacientes que no responden al tratamiento estándar con dosis adecuadas de benzodiacepinas seguido de una droga antiepiléptica aceptable son definidos como Estado epiléptico Refractario (ER). Objetivo: caracterizar la población de niños con EE que ingresan a UCIP y determinar qué factores son predictores de refractariedad en esta población. Métodos: Estudio de casos y controles, retrospectivo. Población: niños con EE internados en UCIP desde Febrero 2015 a Febrero 2017. Casos: Estado epiléptico Refractario (ER). Controles: Estado epiléptico No Refractario (ENR). Se calculó el Odds Ratio (OR) individual para las distintas variables en Med Calc. Resultados: Se internaron 35 pacientes de los cuales 12 fueron casos y 23 controles. Hubo fiebre en 77% de los pacientes. En el total de niños estudiados hubo 11% con antecedente de convulsión febril, 11% con antecedente de epilepsia y 9% con antecedente de malformación del SNC. Los niños con antecedente de convulsión febril tuvieron 2,5 veces mayor riesgo de ER (OR: 2,58; IC 95%: 1,17-5,68). Los niños con EE que tenían antecedentes de enfermedad neurológica previa presentaron riesgo de ER 2,6 veces mayor que el grupo control (OR 2,60; IC 95%: 1,24-5,42). Discusión: Dado el aumento en la mortalidad de los pacientes con ER sería importante disponer de más herramientas para predecir este desenlace e iniciar tratamiento oportuno. Resultaría útil entrenar a los padres de niños con antecedente de convulsión febril en la aplicación de medicación antiepiléptica prehospitalaria, esto podría prevenir la farmacorresistencia, el daño neurológico y las complicaciones que acarrea el ingreso a UCIP. (AU)


Introduction: Status epilepticus (SE) is the most common neurologic emergency in children. Patients that do not respond to standard treatment with adequate doses of benzodiazepines followed by an acceptable antiepileptic drug are defined as having refractory status epilepticus (RSE). Objective: To characterize the population of children with SE admitted to the PICU and to determine predictive factors for refractoriness in this population. Methods: A retrospective case-control study was conducted. Population: Children with SE admitted to the PICU between February 2015 and February 2017. Cases: Refractory status pilepticus (RSE). Controls: Non-refractory status epilepticus (NRSE). Individual Odds Ratio (OR) was calculated for different variables using Med Calc. Results: 35 patients were admitted of whom 12 were cases and 23 controls. Overall, 77% of the patients had fever. Of all the children, 11% had a history of febrile seizures, 11% had history of epilepsy and 9% had a CNS malformation. Children with a history of febrile seizures had a 2.5-fold higher risk of developing RSE (OR: 2.58; 95% CI: 1.17-5.68). Children with SE that had a history of neurologic disease had a 2.6-fold higher risk of developing RSE than controls (OR 2.60; 95% CI: 1.24-5.42). Discussion: Given the increased mortality in children with RSE, availability of tools to predict this outcome in order to initiate early treatment is important. It would be useful to train the parents of children with a history of febrile seizures in the prehospital administration of antiepileptic drugs as this may prevent pharmaco-resistance, neurologic damage, and complication related to PICU admission (AU)


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Status Epilepticus/complications , Status Epilepticus/etiology , Status Epilepticus/drug therapy , Drug Resistance , Intensive Care Units, Pediatric , Seizures, Febrile/drug therapy , Drug Resistant Epilepsy/therapy , Anticonvulsants/therapeutic use , Case-Control Studies , Retrospective Studies
9.
Article in English | WPRIM | ID: wpr-764367

ABSTRACT

BACKGROUND AND PURPOSE: To identify whether serum uric acid levels are significantly higher in patients with benign convulsion associated with mild gastroenteritis (CwG) than in patients with acute gastroenteritis. METHODS: This retrospective study compared the serum levels of uric acid between CwG, acute gastroenteritis, and febrile seizure after correcting for the varying degree of mild dehydration using serum HCO3⁻ levels. We also compared the serum uric acid levels between patients with CwG and febrile seizures in order to exclude the effect of seizures on uric acid. RESULTS: This study included 154 CwG patients (age range 0.73–3.19 years), 2,938 patients with acute gastroenteritis, and 154 patients with febrile seizure. The serum uric acid level was significantly higher in CwG patients than in patients with acute gastroenteritis [9.79±2.16 mg/dL vs. 6.04±2.3 mg/dL (mean±SD), p<0.001]. This difference was also significant after correcting for dehydration. The serum uric acid level was significantly higher in CwG patients than in dehydration-corrected acute gastroenteritis patients (9.79±2.16 mg/dL vs. 6.67±2.48 mg/dL, p<0.001). The serum uric acid level was not elevated in patients with febrile seizure. CONCLUSIONS: We have confirmed that serum uric acid is elevated in CwG patients even after correcting for their dehydration status, and that this was not a postictal phenomenon. Highly elevated serum uric acid in CwG could be a useful clinical indicator of CwG in patients with acute gastroenteritis.


Subject(s)
Child , Dehydration , Gastroenteritis , Humans , Retrospective Studies , Seizures , Seizures, Febrile , Uric Acid
10.
Article in English | WPRIM | ID: wpr-764360

ABSTRACT

BACKGROUND AND PURPOSE: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated with FS and afebrile seizure (AFS). Both seizure types are related to fever, but whether genetic susceptibility to inflammation is implicated in them is still unclear. To analyze the associations between postictal serum cytokine levels and genetic variants in the cytokine genes interleukin (IL)-1β, IL-6, and high mobility group box-1 (HMGB1) in FS and GEFS+. METHODS: Genotyping was performed in 208 subjects (57 patients with FS, 43 patients with GEFS+, and 108 controls) with the SNaPshot assay for IL-1β-31 (rs1143627), IL-1β-511 (rs16944), IL-6-572 (rs1800796), and HMGB1 3814 (rs2249825). Serum IL-1β, IL-6, and HMGB1 levels were analyzed within 2 hours after seizure attacks using the ELISA in only 68 patients (38 FS, 10 GEFS+, and 20 controls). The allele distribution, genotype distribution, and correlations with serum cytokine levels were analyzed. RESULTS: Near-complete linkage disequilibrium exists between IL-1β-31 and IL-1β-511 variants. CT genotypes of these variants were associated with significantly higher postictal serum IL-1β levels than were CC+TT genotypes in FS (both p<0.05). CT genotypes of IL-1β-31 and IL-1β-511 variants were more strongly associated with FS than were CC+TT genotypes (odds ratio=1.691 and 1.731, respectively). For GEFS+, serum IL-1β levels after AFS for CT genotypes of IL-1β-31 and IL-1β-511 were also higher than for CC+TT genotypes. No significant associations were found for IL-6 and HMGB1. CONCLUSIONS: Genetic variants located in IL-1β-31 and IL-1β-511 promotor regions are correlated with higher postictal IL-1β levels in FS. These results suggest that IL-1 gene cluster variants in IL-1β-31 and IL-1β-511 are a host genetic factor for provoking FS in Korean children.


Subject(s)
Alleles , Child , Enzyme-Linked Immunosorbent Assay , Epilepsy , Epilepsy, Generalized , Fever , Genetic Predisposition to Disease , Genotype , HMGB1 Protein , Humans , Inflammation , Interleukin-1 , Interleukin-6 , Interleukins , Linkage Disequilibrium , Multigene Family , Promoter Regions, Genetic , Seizures , Seizures, Febrile
11.
Article in Korean | WPRIM | ID: wpr-766583

ABSTRACT

Skin disease can be caused by high temperature, and it is related to the temperature regulation mechanism of human body, adaptation reaction to temperature change, and health problems due to the recent problematic climate change. In hyperthermia, hot and dry skin is typical manifestation, and sometimes the skin color turns red. On the other hand, the skin color can become pale in severe febrile convulsion. Burn is a skin damage caused by heat, and not only the skin but also the underlying tissues can be destroyed in severe case. It is important to determine the degree and extent of the burn to treat adequately. In the case of severe burns, systemic treatment and prevention of infection or shock should be needed. Miliaria, also called “sweat rash,” occurs when the sweat is accumulated as the sweat gland is closed and sweat cannot be secreted to the surface of the skin. The basis of treating miliaria is to keep the patient in a cool environment. Erythema ab igne is defined as a network of hyperpigmentation that occurs after prolonged exposure to heat that is not enough to cause burn. It may disappear when exposure to heat is interrupted, but it may remain permanently. The extent and mechanism of heat-induced skin disease very diverse and it should be carefully assessed for the severity of each disease, the treatment method and prognosis.


Subject(s)
Burns , Climate Change , Erythema , Fever , Hand , Hot Temperature , Human Body , Humans , Hyperpigmentation , Methods , Miliaria , Prognosis , Seizures, Febrile , Shock , Skin Diseases , Skin Pigmentation , Skin , Sweat , Sweat Glands
12.
Article in English | WPRIM | ID: wpr-760217

ABSTRACT

PURPOSE: To evaluate the association between elevated S100B levels with brain tissue damage seen in abnormalities of head magnetic resonance imaging (MRI; diffusion tensor imaging [DTI] sequence) in patients with status epilepticus (SE). METHODS: An analytical observational study was conducted in children hospitalized at Dr Soetomo Hospital, Surabaya, from July to December 2016. The patients were divided into 2 groups: SE included all children with a history of SE; control included all children with febrile seizure. Blood samples of patients were drawn within 24 hours after admission. SE patients also underwent cranial MRI with additional DTI sequencing. The Mann-Whitney test and Spearman test were used for statistical analysis. RESULTS: Fifty-three patients were enrolled the study. In the 24 children with SE who met the inclusion criteria, serum S100B and cranial MRI findings were assessed. Twenty-two children admitted with febrile seizures became the control group. Most patients were male (66.7%); the mean age was 35.8 months (standard deviation, 31.09). Mean S100B values of the SE group (3.430±0.141 μg/L) and the control group (2.998±0.572 μg/L) were significantly different (P<0.05). A significant difference was noted among each level of encephalopathy based on the cranial MRI results with serum S100B levels and the correlation was strongly positive with a coefficient value of 0.758 (P<0.001). CONCLUSION: In SE patients, there is an increase of serum S100B levels within 24 hours after seizure, which has a strong positive correlation with brain damage seen in head MRI and DTI.


Subject(s)
Brain Diseases , Brain , Child , Diffusion Tensor Imaging , Head , Humans , Magnetic Resonance Imaging , Male , Observational Study , Seizures , Seizures, Febrile , Status Epilepticus
13.
Article in English | WPRIM | ID: wpr-760194

ABSTRACT

PURPOSE: Respiratory syncytial virus (RSV) infection can cause various neurological complications. This study aimed to investigate the RSV-associated neurologic manifestations that present with seizures. METHODS: We retrospectively reviewed the medical records of patients aged less than 15 years with laboratory-confirmed RSV infections and seizures between January 2011 and December 2016 in a regional hospital in South Korea. RESULTS: During this period, 1,193 patients with laboratory-confirmed RSV infection were identified. Of these, 35 (35 of 1,193, 2.93%; boys, 19; girls, 16; mean age: 20.8±16.6 months) presented with seizure. Febrile seizure was the most common diagnosis (27 of 35, 77.1%); simple febrile seizures in 13 patients (13 of 27, 48.1%) and complex febrile seizures in 14 (14 of 27, 51.9%). Afebrile seizures without meningitis or encephalopathy were observed in 5 patients (5 of 35, 14.3%), seizures with meningitis in 2 (2 of 35, 5.7%), and seizure with encephalopathy in 1 (1 of 35, 2.9%) patient. Lower respiratory symptoms were not observed in 8 patients. In a patient with encephalopathy, brain diffusion-weighted magnetic resonance imaging revealed transient changes in white matter, suggesting cytotoxic edema as the mechanism underlying encephalopathy. Most patients recovered with general management, and progression to epilepsy was noted in only 1 patient. CONCLUSION: Although febrile seizures are the most common type of seizure associated with RSV infection, the proportion of patients with complex febrile seizures was higher than that of those with general febrile seizures. Transient cytotoxic edema may be a pathogenic mechanism in RSV-related encephalopathy with seizures.


Subject(s)
Brain , Brain Diseases , Child , Diagnosis , Edema , Epilepsy , Female , Humans , Korea , Magnetic Resonance Imaging , Medical Records , Meningitis , Neurologic Manifestations , Respiratory Syncytial Viruses , Retrospective Studies , Seizures , Seizures, Febrile , White Matter
14.
Biomédica (Bogotá) ; 38(4): 463-466, oct.-dic. 2018. graf
Article in Spanish | LILACS | ID: biblio-983955

ABSTRACT

La epilepsia con retardo mental ligado al cromosoma X por mutación del gen PCDH19, es una condición que solo se presenta en las mujeres. El cuadro clínico suele verse complicado con retardo global del desarrollo y epilepsia. En la edad adulta puede manifestarse con discapacidad intelectual y hasta 20 % de las mujeres afectadas no presentan convulsiones ni retardo intelectual. Se presenta el caso de una niña con epilepsia, retardo del desarrollo y conversión autista, asociados con leucoencefalopatía y tractopatía posterior reversible por mutación del PCDH19 (c.142G>T/ p.Glu48X).


Epilepsy and mental retardation produced by mutations in gene PCDH19 (protocadherin 19) is an X-linked syndrome restricted to females. It starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults. At least in 20% of cases, there are no seizures or intellectual retardation. We report the case of a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G>T/ p.Glu48X).


Subject(s)
Epilepsy , Brain Diseases , Seizures, Febrile , Leukoencephalopathies , Intellectual Disability
16.
Medicina (B.Aires) ; 78(supl.2): 18-24, set. 2018. tab
Article in Spanish | LILACS | ID: biblio-955009

ABSTRACT

Las crisis febriles están asociadas a fiebre en niños entre 6 y 60 meses de edad, sin infección del sistema nervioso central u otras causas de crisis sintomáticas agudas y sin historia de crisis afebriles previas. Ocurren en aproximadamente el 2-5% de los niños. Se debe considerar la posibilidad de una infección del sistema nervioso, a pesar de que la frecuencia es extremadamente baja cuando el examen físico posterior a la crisis no es orientador. Mientras que el manejo clínico de los niños con crisis febriles simples está bien definido, considerándolas como eventos benignos auto-limitados, la conducta en los niños con crisis febriles complejas es controvertida. Se asocian con un aumento relativamente pequeño del riesgo de epilepsia, el cual no puede ser prevenido mediante ninguna forma de tratamiento. El rol del electroencefalograma también es controvertido. Analizamos los datos de varios estudios y concluimos que las descargas epileptiformes tienen valores predictivos positivos bajos e implican pequeñas variaciones entre la probabilidad pre y post-prueba para el desarrollo de epilepsia posterior. Se ha propuesto realizar resonancias magnéticas encefálicas para detectar cambios a nivel hipocampal previos, agudos o posteriores a crisis focales o estatus febriles que pudieran relacionarse con el riesgo de esclerosis mesial temporal y de epilepsia temporal. La relación etiológica entre estas entidades continúa siendo un tema controvertido. En cualquier caso, los estudios alterados no van a cambiar el manejo clínico de las crisis febriles y pueden contribuir al sobre-diagnóstico.


A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in about 2-5% of children. Central nervous system infections should be considered in patients with febrile seizures, even though the frequency of this possibility is low, especially when patients do not return to baseline. Simple febrile seizures are considered benign events and there are clear guidelines about evaluation and management, but the evaluation of complex febrile seizures is controversial. They are associated with a small increased risk of epilepsy which cannot be prevented. The role of electroencephalography is controversial. We analyzed the data of many studies and concluded that epileptiform discharges have poor positive predictive value. Neuroimaging is recommended to look for acute or pre-existing hippocampal abnormalities following febrile status or focal febrile seizures that could be associated to the risk of developing mesial temporal sclerosis and temporal lobe epilepsy. The relationship between these disorders and febrile seizures remains a controversial issue. An abnormal electroencephalography or magnetic resonance imaging studies will not change the clinical management and could contribute to overdiagnosis.


Subject(s)
Humans , Infant , Child, Preschool , Seizures, Febrile/diagnosis , Prognosis , Magnetic Resonance Imaging , Risk Factors , Seizures, Febrile/drug therapy , Diagnosis, Differential , Electroencephalography , Epilepsy, Temporal Lobe/diagnosis , Epilepsy, Temporal Lobe/etiology
17.
Medicina (B.Aires) ; 78(supl.2): 6-11, set. 2018.
Article in Spanish | LILACS | ID: biblio-955007

ABSTRACT

Los episodios paroxísticos son uno de los trastornos neurológicos más frecuentes en niños. Es importante diferenciar entre los trastornos paroxísticos no epilépticos, las crisis sintomáticas agudas, las crisis febriles y las crisis no provocadas. La historia clínica permite, en la gran mayoría de los casos, poder llegar al diagnóstico. Las crisis no provocadas únicas son frecuentes en el niño. La tasa de recurrencia tras una primera crisis no provocada varía entre un 23-96% en los dos años siguientes a la primera crisis. El objetivo de este trabajo es describir cómo evaluar al paciente con una primera crisis no provocada y revisar el valor predictivo de los distintos factores de riesgo de recurrencia. Entre dichos factores de riesgo, se evalúan datos como la presencia de antecedentes familiares de epilepsia, historia previa de crisis febriles, edad de debut, tipo de crisis, presencia de crisis prolongadas o crisis agrupadas, crisis de presentación en sueño, anomalías neurológicas, evidencia de una etiología definida, y presencia de anomalías epileptiformes en el electroencefalograma. Los factores de riesgo de recurrencia más importantes son la etiología de las crisis y la presencia de anomalías epileptiformes en el electroencefalograma.


Paroxysmal episodes are one of the most common neurological disorders in children. It is important to distinguish between paroxysmal non-epileptic events, symptomatic seizures, febrile seizures, and unprovoked seizures. Patient's history is the key to proper diagnosis in most of the cases. A single unprovoked seizure is a frequent phenomenon in the pediatric population. Studies of recurrence after a first unprovoked seizure show percentages between 23% and 96% over a median follow-up of two years. The aim of this study is to define how to evaluate the first unprovoked epileptic seizure in a child and to review the weight of the different recurrence risk factors. Several factors enable us to predict the recurrence risk after a first unprovoked seizure including family history of epilepsy, prior history of febrile seizures, age at onset, type of seizure, prolonged seizures at onset, multiple seizures in a single day, sleep state, neurological abnormalities, etiology, and abnormalities in the electroencephalogram. The most important of these risk factors are the etiology of the seizures and the evidence of epileptiform abnormalities in the electroencephalogram.


Subject(s)
Humans , Male , Child, Preschool , Child , Seizures, Febrile/diagnosis , Epilepsy/diagnosis , Recurrence , Magnetic Resonance Imaging , Incidence , Predictive Value of Tests , Risk Factors , Seizures, Febrile/epidemiology , Electroencephalography , Epilepsy/epidemiology
18.
Rev. cuba. hematol. inmunol. hemoter ; 34(1): 5-20, ene.-mar. 2018.
Article in Spanish | LILACS, CUMED | ID: biblio-978402

ABSTRACT

Los desórdenes autoinflamatorios hereditarios constituyen una gama de condiciones heterogéneas que tienen como característica común la aparición de ataques no provocados de inflamación, la cual podría ser sistémica u ocurrir en nichos localizados del organismo. Dentro de estos se encuentran los síndromes hereditarios de fiebre periódica, caracterizados por ataques cortos y recurrentes de fiebre e inflamación localizada grave, que ocurre periódica o irregularmente y que no se explican por las infecciones usuales de la infancia. Forma parte de estas entidades el síndrome periódico asociado al receptor del factor necrosis tumoral, el cual se caracteriza por episodios de fiebre prolongada, mialgias, dolor abdominal, eritema cutáneo migratorio, conjuntivitis o edema periorbitario, con un patrón de herencia autosómico dominante. Lo más importante para el diagnóstico es el análisis genético y su pronóstico está determinado por la aparición de amiloidosis. En 1999, se descubrió su base genética, al identificarse las mutaciones causantes de la enfermedad en el gen que codifica para la superfamilia 1 A del receptor del factor de necrosis tumoral. En años recientes se han logrado avances significativos en el diagnóstico y tratamiento de esta enfermedad gracias a un mejor conocimiento de su patogénesis. En este trabajo se describen los aspectos más relevantes en cuanto a patogénesis, relación de las mutaciones con el fenotipo de la enfermedad, características clínicas y tratamiento(AU)


Hereditary autoinflammatory disorders are a range of heterogeneous conditions that have as a common feature the appearance of unprovoked inflammatory attacks, which may be systemic or occur in localized niches of the body. Among these are hereditary periodic fever syndrome, characterized by short and recurrent attacks of fever and severe localized inflammation, occurring periodically or irregularly and not explained by the usual infections of childhood. Tumor necrosis factor receptor-associated periodic syndrome is part of these entities and is characterized by episodes of prolonged fever, myalgias, abdominal pain, migratory cutaneous erythema, conjunctivitis and/or periorbital edema, with an autosomal dominant inheritance pattern. The most important for the diagnosis is the genetic analysis and its prognosis is determined by the appearance of amyloidosis. In 1999 its genetic basis was discovered by identifying disease-causing mutations in the gene encoding tumor necrosis factor receptor superfamily member 1A. In recent years, significant advances have been achieved in the diagnosis and treatment of this disease, thanks to a better understanding of its pathogenesis. This paper describes the most relevant aspects regarding pathogenesis, relation of mutations with the disease phenotype, clinical characteristics and treatment(AU)


Subject(s)
Humans , Male , Female , Lymphotoxin-alpha/genetics , Hereditary Autoinflammatory Diseases , Hereditary Autoinflammatory Diseases/epidemiology , Seizures, Febrile
19.
Buenos Aires; Médica Panamericana; 2018. 145 p. ilus.
Monography in Spanish | LILACS | ID: biblio-883334

ABSTRACT

Las afecciones neurológicas son uno de los motivos de consulta más frecuentes en la práctica pediátrica ambulatoria y ocupan un alto índice de las camas en la internación. El papel del pediatra en este contexto es muy complejo, ya que es quien recibe a un paciente en la emergencia o en el consultorio y debe estar atento a si un determinado síntoma o signo neurológico puede ser transitorio o el indicio de una enfermedad grave. Así, son fundamentales tanto el conocimiento de las distintas entidades neurológicas y de sus aspectos epidemiológicos y patogénicos como también el examen semiológico y los primeros estudios por realizar para la orientación diagnóstica, el tratamiento inicial, las indicaciones de derivación, la prevención de riesgos y el asesoramiento a los padres. Este nuevo volumen aborda esta temática especial con énfasis en el trabajo interdisciplinario y entre sus características se destacan: El estudio de importantes temas clínicos, como las convulsiones febriles, que se presentan en el 2% al 5% de los niños; la epilepsia infantil, con una prevalencia del 1%; la cefalea, cuya incidencia ha aumentado en los últimos veinte años y es hoy el motivo de consulta más frecuente en los servicios de neurología; las crisis paroxísticas no epilépticas, que aparecen entre el 5% y el 20% de la población infantil; el desafío diagnóstico del lactante hipotónico; las encefalopatías agudas, y los trastornos de la marcha y del movimiento. La inclusión, en todos los capítulos, de casos clínicos con su evolución y desenlace, textos destacados con los principales conceptos, puntos claves para recordar, además de material complementario, como bibliografía adicional, videos y enlaces a sitios web de interés. Una obra sólida y práctica, que transmite las experiencias de los profesionales de una institución del prestigio internacional del Hospital de Pediatría Prof. Dr. Juan P. Garrahan ­a treinta años de su creación- dedicada a todos los pediatras, donde quiera que trabajen al servicio de la salud de los niños.


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Argentina , Seizures , Spasms, Infantile , Brain Diseases , Muscular Atrophy, Spinal , Chorea , Syncope, Vasovagal , Seizures, Febrile , Dyskinesias , Tics , Gait Disorders, Neurologic , Dystonia , Epilepsy , Headache Disorders, Primary , Headache Disorders, Secondary , Movement Disorders , Muscle Hypotonia
20.
Article in English | WPRIM | ID: wpr-714073

ABSTRACT

PURPOSE: The association between hypercalciuria and febrile convulsion is controversial. The present study aimed to investigate the statistical association between hypercalciuria and childhood febrile convulsions. METHODS: Overall, 160 children aged 6 months to 5 years, including 80 children with febrile convulsion and 80 febrile children without convulsion (comparison group), were recruited. All laboratory tests, including 24-hour urine calcium, were undertaken in an academic clinical laboratory. RESULTS: Forty-five children of the febrile convulsion group (60%) and 30 of the comparison group (40%) had hypercalciuria. There was a significant difference between the 2 groups (P=0.02). CONCLUSION: Our results indicated that there is a statistical association between convulsion and hypercalciuria in children. Since we found this association with a cross-sectional assessment, further studies, especially prospective and controlled designs, are needed.


Subject(s)
Calcium , Child , Humans , Hypercalciuria , Prospective Studies , Seizures , Seizures, Febrile
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