Assuntos
Maus-Tratos Infantis , Traumatismos Craniocerebrais , Humanos , Lactente , Criança , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/etiologia , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Maus-Tratos Infantis/diagnóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Global developmental delay, lack of speech, and severe epilepsy are the characteristic hallmarks of Angelman syndrome (AS). The purpose of this study was to explore the utility of brain magnetic resonance imaging (MRI) as an ancillary tool for the diagnosis of AS. MATERIAL AND METHODS: Brain MRI images of nine laboratory-confirmed patients with AS from a neurorehabilitation center in Rio de Janeiro were reviewed. Each MRI was assessed by a set of two experienced neuroradiologists following a predefined protocol. RESULTS: The main neuroimaging findings revealed in our study were: Thinning of the corpus callosum in five patients; enlargement of lateral ventricles in four patients; and, cerebral atrophy with frontal and temporal predominance in one patient. All patients presented with an increased signal intensity in T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequences. CONCLUSION: The lack of specific changes in the brain MRI of children with AS observed in this case series rendered brain MRI a less helpful complementary test. Thus, a definitive diagnosis of AS could only be established on molecular biology that was undertaken based on the clinical suspicion of AS.
Assuntos
Síndrome de Angelman/diagnóstico por imagem , Imageamento por Ressonância Magnética , Criança , Corpo Caloso/diagnóstico por imagem , Humanos , NeuroimagemRESUMO
Angelman syndrome is a neurogenetic disorder that severely affects global neurodevelopment due to modifications in the structure or functioning of UBE3A gene. Its prevalence ranges from 1:10,000 to 1:40,000. There are four main genetic types of AS transmission. A maternal deletion in 15q11.2-q13 is the most common type. There are three well-established electroencephalogram (EEG) patterns used as an ancillary tool for AS diagnosis. The main objectives are to scrutinize the EEG patterns in Angelman syndrome, their correlation to different types of seizures and to review the role of the EEG as an ancillary screening tool in the diagnosis of clinically suspected patients. Forty-three patients' charts and their previously recorded EEGs were reviewed. A set of 34 patients with deletion type, paternal uniparental disomy type and imprint defect type AS were enrolled. AS diagnosis was confirmed either by fluorescent in situ hybridization test or Methylation Specific-Multiplex Ligation Probe Amplification test. Sequencing of UBE3A was not available. Frequencies and Chi-square tests were used for statistic analysis. Pattern I type EEG was observed in 22 (64.7 %) individuals. Pattern II accounted for 6 (17.6 %); Pattern III was evident in 11 (32.4 %). The three distinguished EEG patterns, more frequently Pattern I, when observed in the appropriate clinical setting, may heighten the index of suspicion for selecting patients who will need a molecular biology test to confirm the diagnosis of AS.
Assuntos
Síndrome de Angelman/diagnóstico , Síndrome de Angelman/fisiopatologia , Encéfalo/fisiopatologia , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Criança , Pré-Escolar , Ritmo Delta , Diagnóstico Diferencial , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Masculino , Convulsões/diagnóstico , Convulsões/fisiopatologia , Ritmo TetaRESUMO
OBJECTIVE: To describe the effect of prednisolone on language in children with autism spectrum disorder. This study is based upon two hypotheses: autism etiology may be closely related to neuroinflammation; and, an effective treatment should restore the individual's language skills. METHOD: This is a prospective, double-blinded, randomized, placebo-controlled clinical trial, carried out in a federal university hospital. The initial patient sample consisted of 40 subjects, which were randomized into two parallel groups. Inclusion criteria were: male gender, 3-7 years of age, and meeting the Diagnostic and Statistical Manual of Mental Disorders - 4th edition (DSM-IV) diagnostic criteria. The final sample consisted of 38 patients, of whom 20 were randomized to the placebo group and 18 to the active group. The latter received prednisolone for 24 weeks, at an initial dose of 1mg/kg/day and a tapering dose from the ninth week onward. Language was measured on four occasions over a 12-month period by applying two Brazilian tools: the Language Development Assessment (ADL) and the Child Language Test in Phonology, Vocabulary, Fluency, and Pragmatics (ABFW). RESULTS: The side effects were mild: two patients had hypertension, five had hyperglycemia, and two had varicella. Prednisolone increased the global ADL score in children younger than 5 years of age who had developmental regression (p=0.0057). The ABFW's total of communicative acts also responded favorably in those participants with regression (p=0.054). The ABFW's total of vocal acts showed the most significant results, especially in children younger than 5 years (p=0.004, power=0.913). CONCLUSIONS: The benefit of prednisolone for language scores was more evident in participants who were younger than five years, with a history of developmental regression, but the trial's low dose may have limited this benefit. The observed side effects do not contraindicate corticosteroid use in autism.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/tratamento farmacológico , Transtorno Autístico/complicações , Transtorno Autístico/tratamento farmacológico , Brasil , Criança , Humanos , Masculino , Prednisolona , Estudos ProspectivosRESUMO
Juvenile myoclonus epilepsy (JME) is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures. JME is non-progressive, and there are no abnormalities on clinical examination or intellectual deficits. Psychiatric disorders may coexist. Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis. Prevention of precipitating factors and therapy with valproic acid (VPA) are able to control seizures in the great majority of patients. Whenever VPA is judged to be inappropriate, other antiepileptic drugs such as lamotrigine may be considered. Treatment should not be withdrawn, otherwise recurrences are frequent.
Assuntos
Epilepsia Mioclônica Juvenil , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Criança , Diagnóstico Diferencial , Eletroencefalografia , Humanos , Lamotrigina , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/tratamento farmacológico , Epilepsia Mioclônica Juvenil/etiologia , Triazinas/uso terapêutico , Ácido Valproico/uso terapêuticoRESUMO
OBJECTIVE: To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four Brazilian public elementary schools. METHOD: Study population consisted of all students from the first through fourth grades, age range 6-12 years, who attended four public elementary schools (CIEPs). This prevalence study comprised two steps. During the first step, school teachers screened their own pupils for ADHD using diagnostic criteria from the Diagnostic and Statistic Manual of Mental Disorders - Fourth Edition (DSM-IV). Screening resulted in two groups of children: suspects and non-suspects. In the second step, parents of suspect children were invited for an interview with the researchers, during which they filled ADHD symptoms questionnaire, and in addition a complete history, pediatric physical exam, and neurological exam were performed. At the end of this step, students were classified as "cases" or "undetermined", i.e., those who partially met ADHD diagnostic criteria. RESULTS: From a population of 602 students, 461 were recruited. Considering all four elementary schools, ADHD prevalence was 13%. Male to female ratio was 2:1. The most frequent ADHD subtype was the combined one, accounting for 61.7% of all cases. CONCLUSION: ADHD prevalence in a sample of school-aged children (13%) was higher than the rate that traditionally has been mentioned (3-5%). Boys were more frequently affected than girls and the most prevalent ADHD subtype was the combined subtype, and the latter two findings are concordant with previous studies.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Brasil/epidemiologia , Criança , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Prevalência , Escalas de Graduação Psiquiátrica , Instituições Acadêmicas/estatística & dados numéricosRESUMO
OBJECTIVES: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. SOURCES: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017. This study assessed the pediatric age range, from 0 to 18 years. SUMMARY OF THE DATA: Acute motor deficit is a fairly common presentation in the pediatric emergency room. Patients may be categorized as having localized or diffuse motor impairment, and a precise description of clinical features is essential in order to allow a complete differential diagnosis. The two most common causes of acute flaccid paralysis in the pediatric emergency room are Guillain-Barré syndrome and transverse myelitis; notwithstanding, other etiologies should be considered, such as acute disseminated encephalomyelitis, infectious myelitis, myasthenia gravis, stroke, alternating hemiplegia of childhood, periodic paralyses, brainstem encephalitis, and functional muscle weakness. Algorithms for acute localized or diffuse weakness investigation in the emergency setting are also presented. CONCLUSIONS: The clinical skills to obtain a complete history and to perform a detailed physical examination are emphasized. An organized, logical, and stepwise diagnostic and therapeutic management is essential to eventually restore patient's well-being and full health.
Assuntos
Serviço Hospitalar de Emergência , Debilidade Muscular/diagnóstico , Debilidade Muscular/etiologia , Doença Aguda , Criança , Diagnóstico Diferencial , Humanos , Exame FísicoRESUMO
The recent alarming statements concerning the newborn ZIKV-induced microcephaly epidemics in the Northeast of Brazil, released by the Brazilian Ministry of Health, as well as important international health agencies, such as the World Health Organization and the Pan American Health Organization, raised many "why and how" questions so far, that will hopefully be scientifically answered, as more researches in that regard come up in the long term. In this paper, we describe another potentially ZIKV-induced central nervous system and musculoskeletal disorder that has accompanied microcephaly in these children: atrhogryposis multiplex congenita. The goal is to bring up some hypotheses for possible underlying molecular mechanisms based on published data taken from animal models, such as ovine and cattle, which once infected by other types of arboviroses and viruses that also belong to the Flaviviridae family, presented, too, with the full-blown CNS spectrum of malformations at birth.
Assuntos
Artrogripose/etiologia , Sistema Nervoso Central/virologia , Microcefalia/etiologia , Infecção por Zika virus/complicações , Infecção por Zika virus/patologia , Artrogripose/virologia , Sistema Nervoso Central/patologia , Feminino , Humanos , Recém-Nascido , Masculino , Microcefalia/virologiaRESUMO
OBJECTIVE: To report a pediatric case of central pontine and extrapontine myelinolysis, a rare neurological disease often associated with rapid correction of hyponatremia. DESCRIPTION: A 15 year-old female adolescent developed locked-in syndrome during severe hyponatremia. Brain magnetic resonance imaging was consistent with the diagnosis of central pontine and extrapontine myelinolysis. COMMENTS: Serum sodium correction should proceed slowly and cautiously, based upon a careful calculation of sodium deficit, in order to minimize metabolic stress and avoid the occurrence of this dreadful complication, which has a tragic outcome in most cases. There is no scientifically proved effective treatment for myelinolysis, and severe cases usually have a dismal prognosis.
Assuntos
Hiponatremia/diagnóstico , Mielinólise Central da Ponte/diagnóstico , Adolescente , Encéfalo/patologia , Evolução Fatal , Feminino , Humanos , Hiponatremia/etiologia , Hiponatremia/terapia , Imageamento por Ressonância Magnética , Mielinólise Central da Ponte/etiologia , Sódio/sangueRESUMO
Abstract Objective: To describe the effect of prednisolone on language in children with autism spectrum disorder. This study is based upon two hypotheses: autism etiology may be closely related to neuroinflammation; and, an effective treatment should restore the individual's language skills. Method: This is a prospective, double-blinded, randomized, placebo-controlled clinical trial, carried out in a federal university hospital. The initial patient sample consisted of 40 subjects, which were randomized into two parallel groups. Inclusion criteria were: male gender, 3-7 years of age, and meeting the Diagnostic and Statistical Manual of Mental Disorders - 4th edition (DSM-IV) diagnostic criteria. The final sample consisted of 38 patients, of whom 20 were randomized to the placebo group and 18 to the active group. The latter received prednisolone for 24 weeks, at an initial dose of 1 mg/kg/day and a tapering dose from the ninth week onward. Language was measured on four occasions over a 12-month period by applying two Brazilian tools: the Language Development Assessment (ADL) and the Child Language Test in Phonology, Vocabulary, Fluency, and Pragmatics (ABFW). Results: The side effects were mild: two patients had hypertension, five had hyperglycemia, and two had varicella. Prednisolone increased the global ADL score in children younger than 5 years of age who had developmental regression (p = 0.0057). The ABFW's total of communicative acts also responded favorably in those participants with regression (p = 0.054). The ABFW's total of vocal acts showed the most significant results, especially in children younger than 5 years (p = 0.004, power = 0.913). Conclusions: The benefit of prednisolone for language scores was more evident in participants who were younger than five years, with a history of developmental regression, but the trial's low dose may have limited this benefit. The observed side effects do not contraindicate corticosteroid use in autism.
Assuntos
Humanos , Masculino , Criança , Transtorno Autístico/complicações , Transtorno Autístico/tratamento farmacológico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/tratamento farmacológico , Brasil , Prednisolona , Estudos ProspectivosRESUMO
Duchenne and Becker muscular dystrophies (DMD/DMB) are neuromuscular diseases linked to chromosome X and affect mainly male individuals. Duchenne muscular dystrophy is the most severe form of the disease, leading to a decreased patient survival compared with individuals with Becker type and female carriers of the mutated gene. In this paper we present the case of a female adolescent whose clinical picture and disease course closely resembled male individuals.
Assuntos
Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/fisiopatologia , Adolescente , Criança , Distrofina/genética , Feminino , Heterozigoto , HumanosRESUMO
Abstract Objectives: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. Sources: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017. This study assessed the pediatric age range, from 0 to 18 years. Summary of the data: Acute motor deficit is a fairly common presentation in the pediatric emergency room. Patients may be categorized as having localized or diffuse motor impairment, and a precise description of clinical features is essential in order to allow a complete differential diagnosis. The two most common causes of acute flaccid paralysis in the pediatric emergency room are Guillain-Barré syndrome and transverse myelitis; notwithstanding, other etiologies should be considered, such as acute disseminated encephalomyelitis, infectious myelitis, myasthenia gravis, stroke, alternating hemiplegia of childhood, periodic paralyses, brainstem encephalitis, and functional muscle weakness. Algorithms for acute localized or diffuse weakness investigation in the emergency setting are also presented. Conclusions: The clinical skills to obtain a complete history and to perform a detailed physical examination are emphasized. An organized, logical, and stepwise diagnostic and therapeutic management is essential to eventually restore patient's well-being and full health.
Resumo Objetivos: Apresentar uma abordagem clínica, enfatizar a investigação diagnóstica, voltada para crianças e adolescentes no pronto-socorro com fraqueza muscular de surgimento agudo. Fontes: Foi feita uma pesquisa sistemática na base de dados PubMed entre abril e maio de 2017, com os seguintes termos de pesquisa em várias combinações: "agudo", "fraqueza", "déficit motor", "paralisia flácida", "criança", "pediátrico" e "emergência". Os trabalhos escolhidos para esta revisão foram publicados nos últimos dez anos, de 1997 a 2017. Este trabalho aborda a faixa etária pediátrica, até 18 anos. Resumo dos dados: O déficit motor agudo é uma causa razoavelmente comum para crianças e adolescentes procurarem o pronto-socorro. Os pacientes podem ser classificados como com deficiência motora localizada ou difusa e uma descrição precisa das características clínicas é essencial para possibilitar um diagnóstico diferenciado completo. As duas causas mais comuns de paralisia flácida aguda no pronto-socorro pediátrico são síndrome de Guillain-Barré e mielite transversa, independentemente de outras etiologias serem consideradas, como encefalomielite disseminada aguda, mielite infecciosa, miastenia grave, derrame, hemiplegia alternante da infância, paralisia periódica, encefalite do tronco encefálico e fraqueza muscular funcional. Os algoritmos da investigação de fraqueza aguda localizada ou difusa na configuração de emergência também são apresentados. Conclusões: São enfatizadas as habilidades clínicas para obter um histórico completo e fazer um exame físico detalhado. Um manejo diagnóstico e terapêutico organizado, lógico e por etapas é essencial para eventualmente restaurar o bem-estar e a saúde total do paciente.
Assuntos
Humanos , Criança , Debilidade Muscular/diagnóstico , Debilidade Muscular/etiologia , Serviço Hospitalar de Emergência , Exame Físico , Doença Aguda , Diagnóstico DiferencialRESUMO
OBJECTIVE: To analyze and compare cerebral white matter tracts through diffusion tensor imaging in autistic and normal children. METHODS: This is a case-control study on a sample of eight male, right-handed children diagnosed with autism according to Diagnostic and Statistical Manual of Mental Disorders-4th Edition criteria, and eight healthy age- and sex-matched controls. Imaging studies were performed on a 1.5-T scanner (Symphony Maestro Class, Siemens, Erlangen, Germany). Fractional anisotropy was calculated for the frontopontine and corticospinal tracts, frontal subcortical white matter, anterior cingulate, corpus callosum, striatum, internal capsule, optic radiation, superior and inferior longitudinal fascicles, and cerebellum. Analysis of significance was based on analysis of variance test for the mean fractional anisotropy values. RESULTS: Median age of cases was 9.53 +/- 1.83 years, and of controls, 9.57 +/- 1.36 years. Diffusion tensor imaging findings included significant reduction of fractional anisotropy in the anterior corpus callosum (P= .008), right corticospinal tract (P= .044), posterior limb of right and left internal capsules (P= .003 and .049, respectively), left superior cerebellar peduncle (P= .031), and right and left middle cerebellar peduncles (P= .043 and .039, respectively) in autistic children. CONCLUSIONS: The diffusion tensor imaging findings in children with autistic disorder suggest impairment of white matter microstructure, possibly associated with reduced connectivity in corpus callosum, internal capsule, and superior and middle cerebellar peduncles.
Assuntos
Transtorno Autístico/patologia , Encéfalo/patologia , Imagem de Difusão por Ressonância Magnética , Análise de Variância , Anisotropia , Estudos de Casos e Controles , Criança , Humanos , Masculino , Fibras Nervosas Mielinizadas/patologia , Vias Neurais/patologia , Medula Espinal/patologiaRESUMO
OBJECTIVE: To analyze the metabolic constitution of brain areas through proton magnetic resonance spectroscopy in children affected with fetal alcohol spectrum disorder compared with normal children. METHOD: The sample of this case-control study included eight boys with epidemiologic history of in utero exposure to alcohol (median age 13.6+/-3.8 years) who were diagnosed with fetal alcohol spectrum disorder, and eight controls (median age 12.1+/-3,4 years). An 8 cm(3) single voxel approach was used, with echo time 30 ms, repetition time 1500 ms, and 128 acquisitions in a 1.5T scanner, and four brain areas were analyzed: anterior cingulate, left frontal lobe, left striatum, and left cerebellar hemisphere. Peaks and ratios of metabolites N-acetylaspartate, choline, creatine, and myo-inositol were measured. RESULTS: Children with fetal alcohol spectrum disorder showed a decrease in choline/creatine ratio (p=0.020) in left striatum and an increase in myo-inositol/creatine ratio (p=0.048) in left cerebellum compared with controls. There was no statistically significant difference in all peaks and ratios from the anterior cingulate and frontal lobe between the two groups. CONCLUSION: This study found evidence that the left striatum and left cerebellum are affected by intrauterine exposure to alcohol. Additional studies with larger samples are necessary to expand our knowledge of the effects of fetal exposure to alcohol.
Assuntos
Química Encefálica , Transtornos do Espectro Alcoólico Fetal/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , GravidezRESUMO
PURPOSE: This study aims to assess cerebral metabolites in school-aged autistic patients through proton magnetic resonance spectroscopy. METHODS: This case-control study included 10 right-handed male children (median age, 9.53 years +/- 1.80) with autism according to DSM-IV criteria, and 10 healthy age- and sex-matched healthy controls (median age, 8.52 years +/- 1.42). Imaging was performed on a 1.5-T scanner utilizing a single voxel point-resolved spectroscopy (PRESS) technique (TR = 1,500 ms, TE = 30 ms). Four cerebral areas were evaluated: bilateral anterior cingulate, left striatum, left cerebellar hemisphere, and left frontal lobe. Peak areas and ratios to creatine (Cr) of N-acetylaspartate (NAA), choline (Cho), and myo-inositol (mI) were analyzed. RESULTS: Compared with controls, autistic children showed a significant increase in mI (P= .021) and Cho (P= .042) peak areas in anterior cingulate and in mI/Cr ratio in anterior cingulate (P= .037) and left striatum (P= .035). The remaining metabolites and ratios were not significantly different between the 2 groups. CONCLUSIONS: This study found a statistically significant increase in myo-inositol and choline in anterior cingulate and left striatum of autistic children compared with controls. In contrast to previous studies, NAA peak area and NAA/Cr and NAA/Cho ratios had no statistically significant decrease in any of the 4 brain regions.
Assuntos
Transtorno Autístico/metabolismo , Encéfalo/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Análise de Variância , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Química Encefálica , Estudos de Casos e Controles , Criança , Colina/metabolismo , Creatina/metabolismo , Humanos , Inositol/metabolismo , Masculino , Prótons , Processamento de Sinais Assistido por ComputadorRESUMO
This is the report of an 11-year-old boy with chronic renal disease and secondary hyperparathyroidism. The child had been on dialysis, calcitriol, calcium carbonate, and presented dyslipidemia and calcified thrombi in various vessels and organs in the course of his condition. Pathological examination showed ischemic cerebral necrosis, calcification in coronary arteries, and myocardial infarction.
Assuntos
Isquemia Encefálica/etiologia , Falência Renal Crônica/complicações , Infarto do Miocárdio/etiologia , Isquemia Encefálica/patologia , Calcinose/etiologia , Calcinose/patologia , Criança , Evolução Fatal , Humanos , Falência Renal Crônica/patologia , Masculino , Infarto do Miocárdio/patologia , Índice de Gravidade de DoençaRESUMO
Fundamentos: A forma de Duchenne é a mais comum e grave das distrofias musculares. De herança recessivaligada ao cromossoma X, acomete meninos e afeta os músculos estriados e o miocárdio. Origina-se de mutaçõesno gene da distrofina, o maior gene humano com 79 éxons. Objetivos: Verificar as alterações cardíacas iniciais em pacientes pediátricos com distrofia muscular de Duchenne (DMD) e realizar o estudo molecular das alterações no gene da distrofina. Métodos: Estudo prospectivo incluindo pacientes pediátricos portadores de DMD, com avaliação clínica, medição do nível sérico de creatinofosfoquinase, eletrocardiograma, ecoDopplercardiograma e eletrocardiografia dinâmica e genotipagem do DNA, com amplificação dos 18 éxons mais acometidos.Resultados: Foram estudados 11 meninos de 6-14 anos de idade. Não havia alterações importantes ao exameclínico cardiológico. Observou-se aumento da creatinofosfoquinase em todos os pacientes. O eletrocardiogramamostrou alterações precoces, com ondas R altas em V1 (n=7), bloqueio de ramo direito (n=2), ondas delta e PR curto (n=1) e distúrbio da repolarização ventricular (n=1). Em 4 pacientes, o ecocardiograma evidenciou sinaisde disfunção sistólica. O eletrocardiograma dinâmico (Holter) mostrou alteração em 4 pacientes: com muitas extrassístoles (n=3) e com síndrome de Wolff-Parkinson-White (n=1). Todas as crianças recebiam corticoterapia. Não houve correlação significativa entre a deleção do éxon 52 e arritmias (p=0,43). O estudo molecular evidenciou deleção do éxon 52 nos 4 pacientes com cardiomiopatia dilatada, sendo que em 2 havia deleção concomitante nos éxons 1 e 50, respectivamente. Nos outros 7 pacientes havia deleção nos éxons 48, 51, 52 e 57.Conclusões: O eletrocardiograma mostrou as primeiras alterações nos pacientes pediátricos com DMD. Nos casos com cardiomiopatia dilatada e arritmia, detectou-se deleção do éxon 52.
Background: Duchenne Dystrophy is the most common and severe form of muscular dystrophy. It has an X chromosome-linked recessiveinheritance and affects boys striated muscles and myocardium. It is caused by mutations in the dystrophin gene, the largest human gene, composed of 79 exons. Objectives: To check the early cardiac changes in pediatric patients with Duchenne muscular dystrophy (DMD) and carry out the molecular study of changes in the dystrophin gene.Methods: Prospective study involving pediatric patients with DMD, with clinical assessment, measurement of serum levels of creatine phosphokinase, electrocardiogram, Doppler echocardiography and dynamic electrocardiography and DNA genotyping, with amplificationof the 18 most affected exons. Results: A group of 11 boys aged 6-14 years was studied. Clinical cardiological examination did not reveal any major changes. An increase in creatinine phosphokinase was detected in all patients. Electrocardiogram showed early changes, with high R waves in V1 (n=7) right bundle branch block (n=2), delta waves and short PR interval (n=1), and signs of disturbance of ventricular repolarization (n=1). Echocardiogramshowed signs of systolic dysfunction. Dynamic electrocardiogram (Holter) showed changes in 4 patients: with many extrasystoles (n=3) andWolff-Parkinson-White syndrome (n=1). All children received corticosteroid therapy. There was no significant correlation between exon52 deletion and arrhythmias (p=0.43). The molecular study revealed an exon 52 deletion in 4 patients with dilated cardiomyopathy, of which2 had concomitant deletion of exons 1 and 50, respectively. Other 7 patients had deletions of exons 48, 51, 52 and 57. Conclusions: Electrocardiogram showed the first changes in pediatric patients with DMD. In cases with dilated cardiomyopathy and arrhythmia, the deletion of exon 52 was detected.
Assuntos
Humanos , Masculino , Criança , Criança , Cardiopatias/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofina/fisiologia , Distrofina/genética , Ecocardiografia Doppler , Eletrocardiografia/métodos , Genótipo , Estudos ProspectivosRESUMO
OBJECTIVE: To analyze the metabolic constitution of brain areas through proton magnetic resonance spectroscopy in children affected with fetal alcohol spectrum disorder compared with normal children. METHOD: The sample of this case-control study included eight boys with epidemiologic history of in utero exposure to alcohol (median age 13.6±3.8 years) who were diagnosed with fetal alcohol spectrum disorder, and eight controls (median age 12.1±3,4 years). An 8 cm³ single voxel approach was used, with echo time 30 ms, repetition time 1500 ms, and 128 acquisitions in a 1.5T scanner, and four brain areas were analyzed: anterior cingulate, left frontal lobe, left striatum, and left cerebellar hemisphere. Peaks and ratios of metabolites N-acetylaspartate, choline, creatine, and myo-inositol were measured. RESULTS: Children with fetal alcohol spectrum disorder showed a decrease in choline/creatine ratio (p=0.020) in left striatum and an increase in myo-inositol/creatine ratio (p=0.048) in left cerebellum compared with controls. There was no statistically significant difference in all peaks and ratios from the anterior cingulate and frontal lobe between the two groups. CONCLUSION: This study found evidence that the left striatum and left cerebellum are affected by intrauterine exposure to alcohol. Additional studies with larger samples are necessary to expand our knowledge of the effects of fetal exposure to alcohol.
OBJETIVO: Analisar a composição metabólica de áreas encefálicas através da espectroscopia de prótons por ressonância magnética em crianças com transtornos do espectro alcoólico fetal e crianças normais. MÉTODO: A amostra deste estudo de casos-controles incluiu 8 meninos com história epidemiológica de exposição fetal ao álcool (idade mediana 13,6±3,8 anos), diagnosticados com transtorno do espectro alcoólico fetal, e 8 controles (idade mediana 12,1±3,4 anos). Utilizou-se voxel único de 8 cm³, tempo de eco 30 ms, tempo de repetição 1.500 ms, 128 aquisições, em scanner de 1,5T para as seguintes áreas: cíngulo anterior, lobo frontal esquerdo, estriado esquerdo e hemisfério cerebelar esquerdo. Estudaram-se os picos e as razões dos metabólitos N-acetilaspartato, colina, creatina e o mio-inositol. RESULTADOS: As crianças acometidas apresentaram diminuição da razão colina/creatina (p=0,020) no estriado esquerdo, e aumento da razão mio-inositol/creatina (p=0,048) no cerebelo esquerdo. Não houve diferença estatisticamente significativa nos valores encontrados no cíngulo anterior e lobo frontal entre os dois grupos. CONCLUSÃO: Este estudo encontrou evidências de que o estriado e o cerebelo esquerdos são acometidos pela exposição intra-uterina ao álcool. Estudos adicionais com amostras maiores são essenciais para expandir nosso conhecimento dos efeitos da exposição fetal ao álcool.
Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Gravidez , Química Encefálica , Transtornos do Espectro Alcoólico Fetal/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Estudos de Casos e ControlesRESUMO
Juvenile myoclonus epilepsy (JME) is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures. JME is non-progressive, and there are no abnormalities on clinical examination or intellectual deficits. Psychiatric disorders may coexist. Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis. Prevention of precipitating factors and therapy with valproic acid (VPA) are able to control seizures in the great majority of patients. Whenever VPA is judged to be inappropriate, other antiepileptic drugs such as lamotrigine may be considered. Treatment should not be withdrawn, otherwise recurrences are frequent.
A epilepsia mioclônica juvenil é uma síndrome epiléptica comum, cuja etiologia é fundamentada na genética. Inicia-se entre 6 e 22 anos e os indivíduos apresentam mioclonias, que podem ser acompanhadas por crises tônico-clônicas generalizadas - associação mais comum - e crises de ausência. A doença não é progressiva, e não há alterações detectáveis no exame físico ou déficits intelectuais. Distúrbios psiquiátricos podem coexistir. Polipontas-ondas lentas generalizadas constituem o padrão eletrencefalográfico ictal típico. Não há anormalidades em exames de imagem convencionais. Apresentações atípicas devem ser consideradas, pois predispõem a erros de diagnóstico. A prevenção de fatores desencadeantes e o uso de ácido valpróico (VPA) controlam as crises epilépticas na grande maioria dos casos. Quando o VPA é inapropriado, outras drogas como a lamotrigina podem ser utilizadas. O tratamento não deve ser interrompido, visto que as recidivas são freqüentes.