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In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

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ABSTRACT In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

RESUMO A fim de verificar os aspectos da indicação cirúrgica, vinte e sete pacientes com epilepsia refratária secundária a tumor cerebral, com idade de até 19 anos na cirurgia, operados entre 1996 e 2013 e seguidos por pelo menos um ano, foram estudados. O intervalo médio entre o início das crises e o diagnóstico do tumor foi de 3,6 anos, e deste para a cirurgia, 18 meses. A localização do tumor foi lobo temporal em 16, sendo ganglioglioma e DNET os tipos mais frequentes. Entre os pacientes, 92,5% e 90,4% estavam livres de crises no primeiro e no quinto ano após a cirurgia, respectivamente. Doze de 16 crianças obtiveram sucesso na retirada de drogas, com a média de tempo de 3,2 anos após o procedimento. A cirurgia provou ser potencialmente curativa e segura nestes casos, o que sugere que perante o diagnóstico de tumor esta não pode ser adiada.

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Introduction Behavioral tests of auditory processing have been applied in schools and highlight the association between phonological awareness abilities and auditory processing, confirming that low performance on phonological awareness tests may be due to low performance on auditory processing tests. Objective To characterize the auditory middle latency response and the phonological awareness tests and to investigate correlations between responses in a group of children with learning disorders. Methods The study included 25 students with learning disabilities. Phonological awareness and auditory middle latency response were tested with electrodes placed on the left and right hemispheres. The correlation between the measurements was performed using the Spearman rank correlation coefficient. Results There is some correlation between the tests, especially between the Pa component and syllabic awareness, where moderate negative correlation is observed. Conclusion In this study, when phonological awareness subtests were performed, specifically phonemic awareness, the students showed a low score for the age group, although for the objective examination, prolonged Pa latency in the contralateral via was observed. Negative weak tomoderate correlation for Pa wave latency was observed, as was positive weak correlation for Na-Pa amplitude.(AU)

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Introduction Behavioral tests of auditory processing have been applied in schools and highlight the association between phonological awareness abilities and auditory processing, confirming that low performance on phonological awareness tests may be due to low performance on auditory processing tests. Objective To characterize the auditory middle latency response and the phonological awareness tests and to investigate correlations between responses in a group of children with learning disorders. Methods The study included 25 students with learning disabilities. Phonological awareness and auditory middle latency response were tested with electrodes placed on the left and right hemispheres. The correlation between the measurements was performed using the Spearman rank correlation coefficient. Results There is some correlation between the tests, especially between the Pa component and syllabic awareness, where moderate negative correlation is observed. Conclusion In this study, when phonological awareness subtests were performed, specifically phonemic awareness, the students showed a low score for the age group, although for the objective examination, prolonged Pa latency in the contralateral via was observed. Negative weak to moderate correlation for Pa wave latency was observed, as was positive weak correlation for Na-Pa amplitude.

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INTRODUCTION: Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention. OBJECTIVE: To study P300 in subjects with severe or profound sensorineural hearing loss. METHODS: This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials. RESULTS: A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97 ms and mean amplitude of 3.76 V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p = 0.04), with the predominant auditory communication channels (p < 0.0001), and with time of hearing loss. CONCLUSIONS: P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome. .

INTRODUÇÃO: As avaliações comportamentais e eletrofisiológicas auditivas contribuem para o entendimento do sistema auditivo e do processo de intervenção. OBJETIVO: Estudar P300 em indivíduos com perda auditiva sensorioneural severa ou profunda. MÉTODO: Estudo prospectivo transversal descritivo. Participaram 29 indivíduos, de ambos os sexos, com idade entre 18 e 45 anos com perda auditiva sensorioneural, congênita severa ou profunda e sem comorbidades, avaliados por meio de avaliação audiológica comportamental e potencial evocado auditivo de longa latência. RESULTADOS: O registro da onda P3 foi obtido em 17 indivíduos, com latência e amplitude média de 326,97 ms e 3,76V, respectivamente. Houve diferenças significativas da medida de latência em relação à idade e da amplitude segundo o grau da perda auditiva. Evidenciou-se associação do resultado do P300 aos graus de perda auditiva (p = 0,04) e ao canal de comunicação auditiva predominante (p = 0,0001) e ao tempo de privação auditiva (teste exato de Fisher). CONCLUSÕES: P300 pode ser registrado em indivíduos com perda auditiva sensorioneural congênita e colaborar para a compreensão do desenvolvimento cortical auditivo e ser preditor do resultado da intervenção. .

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BACKGROUND: The Manual Ability Classification System (MACS) has been widely used to describe the manual ability of children with cerebral palsy (CP); however its reliability has not been verified in Brazil. OBJECTIVE: To establish the inter- and intra-rater reliability of the Portuguese-Brazil version of the MACS by comparing the classifications given by therapists and parents of children with CP. METHOD: Data were obtained from 90 children with CP between the ages of 4 and 18 years, who were treated at the neurology and rehabilitation clinics of a Brazilian hospital. Therapists (an occupational therapist and a student) classified manual ability (MACS) through direct observation and information provided by parents. Therapists and parents used the Portuguese-Brazil version of the MACS. Intra- and inter-rater reliability was obtained using unweighted Kappa coefficient (k) and intra-class correlation coefficient (ICC). The Chi-square test was used to identify the predominance of disagreements in the classification of parents and therapists. RESULTS: An almost perfect agreement resulted among therapists [K=0.90 (95% CI 0.83-0.97); ICC=0.97 (95%CI 0.96-0.98)], as well as with intra-rater (therapists), with Kappa ranging between 0.83 and 0.95 and ICC between 0.96 and 0.99 for the evaluator with more and less experience in rehabilitation, respectively. The agreement between therapists and parents was fair [K=0.36 (95% CI 0.22-0.50); ICC=0.79 (95% CI 0.70-0.86)]. CONCLUSIONS: The Portuguese version of the MACS is a reliable instrument to be used jointly by parents and therapists.

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BACKGROUND: The Manual Ability Classification System (MACS) has been widely used to describe the manual ability of children with cerebral palsy (CP); however its reliability has not been verified in Brazil. OBJECTIVE: To establish the inter- and intra-rater reliability of the Portuguese-Brazil version of the MACS by comparing the classifications given by therapists and parents of children with CP. METHOD: Data were obtained from 90 children with CP between the ages of 4 and 18 years, who were treated at the neurology and rehabilitation clinics of a Brazilian hospital. Therapists (an occupational therapist and a student) classified manual ability (MACS) through direct observation and information provided by parents. Therapists and parents used the Portuguese-Brazil version of the MACS. Intra- and inter-rater reliability was obtained using unweighted Kappa coefficient (k) and intra-class correlation coefficient (ICC). The Chi-square test was used to identify the predominance of disagreements in the classification of parents and therapists. RESULTS: An almost perfect agreement resulted among therapists [K=0.90 (95% CI 0.83-0.97); ICC=0.97 (95%CI 0.96-0.98)], as well as with intra-rater (therapists), with Kappa ranging between 0.83 and 0.95 and ICC between 0.96 and 0.99 for the evaluator with more and less experience in rehabilitation, respectively. The agreement between therapists and parents was fair [K=0.36 (95% CI 0.22-0.50); ICC=0.79 (95% CI 0.70-0.86)]. CONCLUSIONS: The Portuguese version of the MACS is a reliable instrument to be used jointly by parents and therapists. .

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INTRODUCTION: Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention. OBJECTIVE: To study P300 in subjects with severe or profound sensorineural hearing loss. METHODS: This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials. RESULTS: A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97ms and mean amplitude of 3.76V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p=0.04), with the predominant auditory communication channels (p<0.0001), and with time of hearing loss. CONCLUSIONS: P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome.

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BACKGROUND: Several studies have demonstrated the importance of using the Gross Motor Function Classification System (GMFCS) to classify gross motor function in children with cerebral palsy, but the reliability of the expanded and revised version has not been examined in Brazil (GMFCS E & R). OBJECTIVE: To determine the intra- and inter-rater reliability of the Portuguese-Brazil version of the GMFCS E & R applied by therapists and compare to classification provided by parents of children with cerebral palsy. METHOD: Data were obtained from 90 children with cerebral palsy, aged 4 to 18 years old, attending the neurology or rehabilitation service of a Brazilian hospital. Therapists classified the children's motor function using the GMFCS E & R and parents used the Brazilian Portuguese version of the GMFCS Family Report Questionnaire. Intra- and inter-rater reliability was obtained through percentage agreement and Cohen's unweighted Kappa statistics (k). The Chi-square test was used to identify significant differences in the classification of parents and therapists. RESULTS: Almost perfect agreement was reached between the therapists [K=0.90 (95% confidence interval 0.83-0.97)] and intra-raters (therapists) with K=1.00 [95% confidence interval (1.00-1.00)], p<0.001. Agreement between therapists and parents was substantial (k=0.716, confidence interval 0.596-0.836), though parents classify gross motor impairment more severely than therapists (p=0.04). CONCLUSIONS: The Portuguese version of the GMFCS E & R is reliable for use by parents and therapists. Parents tend to classify their children's limitations more severely, because they know their performance in different environments.

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BACKGROUND: Several studies have demonstrated the importance of using the Gross Motor Function Classification System (GMFCS) to classify gross motor function in children with cerebral palsy, but the reliability of the expanded and revised version has not been examined in Brazil (GMFCS E & R). OBJECTIVE:: To determine the intra- and inter-rater reliability of the Portuguese-Brazil version of the GMFCS E & R applied by therapists and compare to classification provided by parents of children with cerebral palsy. METHOD: Data were obtained from 90 children with cerebral palsy, aged 4 to 18 years old, attending the neurology or rehabilitation service of a Brazilian hospital. Therapists classified the children's motor function using the GMFCS E & R and parents used the Brazilian Portuguese version of the GMFCS Family Report Questionnaire. Intra- and inter-rater reliability was obtained through percentage agreement and Cohen's unweighted Kappa statistics (k). The Chi-square test was used to identify significant differences in the classification of parents and therapists. RESULTS: Almost perfect agreement was reached between the therapists [K=0.90 (95% confidence interval 0.83-0.97)] and intra-raters (therapists) with K=1.00 [95% confidence interval (1.00-1.00)], p<0.001. Agreement between therapists and parents was substantial (k=0.716, confidence interval 0.596-0.836), though parents classify gross motor impairment more severely than therapists (p=0.04). CONCLUSIONS: The Portuguese version of the GMFCS E & R is reliable for use by parents and therapists. Parents tend to classify their children's limitations more severely, because they know their performance in different environments. .

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Introduction: This is an objective laboratory assessment of the central auditory systems of children with learning disabilities. Aim: To examine and determine the properties of the components of the Auditory Middle Latency Response in a sample of children with learning disabilities. Methods: This was a prospective, cross-sectional cohort study with quantitative, descriptive, and exploratory outcomes. We included 50 children aged 8-13 years of both genders with and without learning disorders. Those with disorders of known organic, environmental, or genetic causes were excluded. Results and Conclusions: The Na, Pa, and Nb waves were identified in all subjects. The ranges of the latency component values were as follows: Na = 9.8-32.3 ms, Pa = 19.0-51.4 ms, Nb = 30.0-64.3 ms (learning disorders group) and Na = 13.2-29.6 ms, Pa = 21.8-42.8 ms, Nb = 28.4-65.8 ms (healthy group). The values of the Na-Pa amplitude ranged from 0.3 to 6.8 ìV (learning disorders group) or 0.2-3.6 ìV (learning disorders group). Upon analysis, the functional characteristics of the groups were distinct: the left hemisphere Nb latency was longer in the study group than in the control group. Peculiarities of the electrophysiological measures were observed in the children with learning disorders. This study has provided information on the Auditory Middle Latency Response and can serve as a reference for other clinical and experimental studies in children with these disorders...

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INTRODUCTION: This is an objective laboratory assessment of the central auditory systems of children with learning disabilities. AIM: To examine and determine the properties of the components of the Auditory Middle Latency Response in a sample of children with learning disabilities. METHODS: This was a prospective, cross-sectional cohort study with quantitative, descriptive, and exploratory outcomes. We included 50 children aged 8-13 years of both genders with and without learning disorders. Those with disorders of known organic, environmental, or genetic causes were excluded. RESULTS AND CONCLUSIONS: The Na, Pa, and Nb waves were identified in all subjects. The ranges of the latency component values were as follows: Na = 9.8-32.3 ms, Pa = 19.0-51.4 ms, Nb = 30.0-64.3 ms (learning disorders group) and Na = 13.2-29.6 ms, Pa = 21.8-42.8 ms, Nb = 28.4-65.8 ms (healthy group). The values of the Na-Pa amplitude ranged from 0.3 to 6.8 ìV (learning disorders group) or 0.2-3.6 ìV (learning disorders group). Upon analysis, the functional characteristics of the groups were distinct: the left hemisphere Nb latency was longer in the study group than in the control group. Peculiarities of the electrophysiological measures were observed in the children with learning disorders. This study has provided information on the Auditory Middle Latency Response and can serve as a reference for other clinical and experimental studies in children with these disorders.

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O objetivo deste estudo retrospectivo e descritivo foi identificar, em lactentes nascidos pré-termo, o período mais precoce em que foram observados sinais neurológicos motores comumente presentes em paralisia cerebral (PC) e discutir a rotina de retornos, com a finalidade de detecção e vigilância desses sinais. A amostra foi composta por 28 bebês nascidos com menos de 37 semanas e peso inferior a 2.500g, de ambos os sexos, internados na Unidade de Terapia Intensiva Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, no período de junho de 2006 a dezembro de 2007, e acompanhados no Ambulatório de Neurodesenvolvimento dessa instituição. Foram coletadas informações dos prontuários referentes à idade gestacional dos bebês, ao processo diagnóstico de PC, quando houvesse, e às idades das principais aquisições posturais. Os resultados mostraram que, em 19 das 28 crianças, foi observado algum sinal de risco ou sequela até o último retorno. Desses 19 pacientes, seis tiveram diagnóstico de PC definido, três pacientes, diagnóstico a definir, cinco apresentaram sinais transitórios de lesão corticoespinhal, e cinco lactentes apresentaram somente atraso postural. Concluiu-se que a rotina de retornos para detectar e vigiar os sinais indicativos de PC nessa amostra revelou a necessidade de um protocolo de avaliação específico e da criação de uma dinâmica de acompanhamento e estimulação de todas as crianças nascidas pré-termo até a idade de marcha sem apoio, independentemente de apresentarem sinais neurológicos perinatais.

This retrospective descriptive study was developed to identify the earlier stages when neuromotor signals commomnly found in cerebral palsy (CP) were registered for preterm infants, as well as to discuss the current follow-up practice I order to detect and monitor such signals. The sample consisted of 28 babies born at less than 37 weeks and weighing less than 2500g, of both genders, admitted to the Intensive Care Unit Neonatal Hospital of the Medical School of Ribeirão Preto, in the period from June 2006 to December 2007, and followed at Neurodevelopment Service of this institution. We collected the medical information regarding the gestational age of these babies, the diagnosis process of CP, when was the case, and the ages when major postural acquisitions occurred. In 19 out of 28 children, signs of risk or sequel were observed until the last follow-up consultation. Among these 19 patients, six were diagnosed with CP, three were to be diagnosed, five showed signs of transient corticospinal lesion, and five infants showed only postural delay. The routine follow-up to detect and monitor signals indicative of PC in this sample revealed need for a more specific assessment protocol, and for the creation of a monitoring and stimulation dynamics for all preterm infants up to the age of walking without support, regardless of presenting perinatal altered neurological signs.

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O objetivo deste estudo retrospectivo e descritivo foi identificar, em lactentes nascidos pré-termo, o período mais precoce em que foram observados sinais neurológicos motores comumente presentes em paralisia cerebral (PC) e discutir a rotina de retornos, com a finalidade de detecção e vigilância desses sinais. A amostra foi composta por 28 bebês nascidos com menos de 37 semanas e peso inferior a 2.500g, de ambos os sexos, internados na Unidade de Terapia Intensiva Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, no período de junho de 2006 a dezembro de 2007, e acompanhados no Ambulatório de Neurodesenvolvimento dessa instituição. Foram coletadas informações dos prontuários referentes à idade gestacional dos bebês, ao processo diagnóstico de PC, quando houvesse, e às idades das principais aquisições posturais. Os resultados mostraram que, em 19 das 28 crianças, foi observado algum sinal de risco ou sequela até o último retorno. Desses 19 pacientes, seis tiveram diagnóstico de PC definido, três pacientes, diagnóstico a definir, cinco apresentaram sinais transitórios de lesão corticoespinhal, e cinco lactentes apresentaram somente atraso postural. Concluiu-se que a rotina de retornos para detectar e vigiar os sinais indicativos de PC nessa amostra revelou a necessidade de um protocolo de avaliação específico e da criação de uma dinâmica de acompanhamento e estimulação de todas as crianças nascidas pré-termo até a idade de marcha sem apoio, independentemente de apresentarem sinais neurológicos perinatais. (AU)

This retrospective descriptive study was developed to identify the earlier stages when neuromotor signals commomnly found in cerebral palsy (CP) were registered for preterm infants, as well as to discuss the current follow-up practice I order to detect and monitor such signals. The sample consisted of 28 babies born at less than 37 weeks and weighing less than 2500g, of both genders, admitted to the Intensive Care Unit Neonatal Hospital of the Medical School of Ribeirão Preto, in the period from June 2006 to December 2007, and followed at Neurodevelopment Service of this institution. We collected the medical information regarding the gestational age of these babies, the diagnosis process of CP, when was the case, and the ages when major postural acquisitions occurred. In 19 out of 28 children, signs of risk or sequel were observed until the last follow-up consultation. Among these 19 patients, six were diagnosed with CP, three were to be diagnosed, five showed signs of transient corticospinal lesion, and five infants showed only postural delay. The routine follow-up to detect and monitor signals indicative of PC in this sample revealed need for a more specific assessment protocol, and for the creation of a monitoring and stimulation dynamics for all preterm infants up to the age of walking without support, regardless of presenting perinatal altered neurological signs. (AU)

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Neurological findings in a three-year-old child with meroacrania provide new insights into how the nervous system develops and functions in the absence of superior levels of control from the time of origin. The girl is the first child of a non-consanguineous white Brazilian couple, born at term, weighing 2650 g and measuring 44 cm in length. Upon examination at 43 months, she had quadriplegia, global hypotonia with occasional body hypertonia in a decorticate posture, hyperreflexia, ankle clonus, and extensor plantar response. This case allowed us to verify that, in the absence of upper structures and subcortical nuclei, there are clear signs that suggest corticospinal primacy in motor functions without a substitute pathway. Sound orientation responses suggest the independence of the vestibular-acoustic-ocular system, and manifestations of responsiveness to the environment raise questions about consciousness.

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Erros inatos do metabolismo (EIM) são doenças genéticas decorrentes, em sua maioria, de deficiências enzimáticas que levam a graves distúrbios metabólicos, e que vem sendo cada vez mais diagnosticados. No presente texto relata-se um histórico sobre a evolução da abordagem diagnóstica e tratamento de EIM no HCFMRP-USP.Na FMRP-USP os EIM vêm sendo objeto de estudo em pós-graduação desde a década de 1980, dado o grande apelo clínico nas áreas de Genética Clínica, Pediatria e Neurologia Infantil, até então com auxílio do Laboratório de Patologia, além de convênio com a APAE de São Paulo para o diagnóstico de fenilcetonúria. Já iniciados os Programas de Pós-Graduação da FMRP-USP, a primeira tese a respeito foi realizada em 1980, sobre cistinúria, na Área de Genética; deficiência de glicose-6-fostato desidrogenase(G6PD) foi objetivo da segunda, em 1987, na de Pediatria. Desde essa época, garantem a rotina de investigação a realização da cromatografia de aminoácidos pelo Centro de Química de Proteínas daFMRP-USP, o convênio com o Serviço de Genética do HC de Porto Alegre-RS e a triagem urinária no Laboratório de Nutrologia, este, resultado de Mestrado em Neurologia em 1990. Nas duas últimas décadas vieram os ambulatórios especializados, o Programa de Triagem Neonatal, o tratamento por Reposição Enzimática e o apoio do Centro de Transplante de Células Tronco. Cabe ressaltar que até2009, apenas mais uma tese foi apresentada. A perpectiva para o desenvolvimento dessa área é a consolidação de uma linha de pesquisa voltada exclusivamente para os EIM na FMRP-USP.

Inborn errors of metabolism (IEM) are genetic diseases, mostly due to enzyme deficiencies leading to severe metabolic damages, increasingly diagnosed. The aim is to describe the history of the development of IEM diagnosis and treatment in the Hospital of Clinics of Ribeirão Preto, São Paulo University (HCFMRP-USP). At the beginnings of the Post-Graduate Programs in the School of Medicine of Ribeirão Preto of São Paulo University (FMRP-USP), the first thesis on IEM was performed in 1980 on cystinuria in the area of Genetics; G6PD goal was the second in 1987 in Pediatrics. Since that time, IEM diagnosis was possible, in the sequence, due to the chromatography of amino acids routine by the Center for Protein Chemistry, FMRP-USP in 1984, the partnership with the Department of Genetics, Hospital of Clinics of Porto Alegre. RS in 1988 and the urine screening in the Nutrology Laboratory of FMRP-USP, that resulted of a Master in Neurology in 1990. In the last two decades: the specialized out patients clinics, the Program for Neonatal Screening, treatment by enzyme replacement and support of the Stem Cell Transplantation Center were implemented. It is noteworthy that by 2009, just one more thesis was presented.The perspective for the development of this area is the consolidation of a line of research focused exclusively on the EIM in FMRP-USP.

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Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na prevenção de deficiências, especialmente a mental. Este estudo descritivo teve por objetivo verificar diagnósticos confirmados e modalidades de tratamento utilizadas de janeiro de 2000 a dezembro de 2008. Método: foi realizada busca ativa de casos confirmados nos serviços que atendem esse tipo doença: neurologia (neuropediatria e doençasneuromusculares), pediatria (serviço de gastrologia e hepatologia) e genética clínica, além de levantamento no Serviço de Arquivo Médico do HCFMRP-USP. Foram confirmados 165 pacientes com EIM, com idades de um dia a 22 anos (mediana de um ano); 50 casos foram defeitos na síntese ou catabolismo de moléculas complexas, 65 no metabolismo intermediário, e 50 na produção ou utilização de energia. O tratamento foi instituído para 12 dos 50 pacientes do grupo I sendo reposição enzimática em 11 e transplante de medula óssea em um; todos do grupo II e III receberam orientação nutricional; 60 do grupo II receberam fórmula dietética industrializada; dos 50 do grupo III, 43 com mitocondriopatias receberam L-carnitina e coenzimas e aqueles com glicogenose, orientação sobre aporte de carbohidratos. A formação de novos recursos humanos, integração com a Rede EIM Brasil e linhas de pesquisa na área são prioridades para melhorar a acuidade na detecção e tratamento de erros inatos do metabolismo.

Inborn Errors of Metabolism have been increasingly identified in recent years. The early diagnosis focuses on prevention of disabilities, especially mental retardation. This descriptive study aims to verify confirmed diagnosis and treatment modalities in HCFMRP-USP cases from January of 2000 to December of 2008. A total of 165 patients with ages ranging from one day to 22 years (median one year) were detected. Fifty patients had synthesis or catabolism of complex molecules (group I), 65 intermediary metabolism (group II), and 50 had production or use of energy (group III) defects. Among the patients of group I, 11 had enzyme replacement therapy, and one bone marrow transplantation; for group II and III, inaddition to daily nutritional guidance for all of the patients, 60 from group II received industrialized diets; from group III, 43 with mitochondrial diseases received L-carnitine and coenzymes, and those with glycogenosis were focused mainly on the intake of carbohydrates. New human resources, integration with the Network EIM Brazil and lines of research in the area are priorities for improving the accuracy in the detection and treatment of inborn errors of metabolism.

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We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

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The course of myoclonic astatic epileptic syndrome (MAES) is variable and little information is available about cortical functions in the presence of the disease. The objective of the present study was to assess the phonological working memory (PWM) and the verbal language of six patients between 8 and 18 years old, on treatment for at least 5 years, and good control of seizures, diagnosed in the Service of Epilepsy of Hospital of Clinics of Ribeirão Preto, São Paulo University in Brazil. The Test of Repetition of Meaningless Words was used to assess PWM. Video-recorded of language samples were collected during spontaneous and directed activities for the study of verbal language and pragmatics. A qualitative analysis showed that all patients presented deficits in the execution of the PWM test and only one patient showed poor mastery of all aspects studied. These finds contribute to strategies of treatment for language problems of patients with MAES, focusing on PWA.

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RESUMEN

The course of myoclonic astatic epileptic syndrome (MAES) is variable and little information is available about cortical functions in the presence of the disease. The objective of the present study was to assess the phonological working memory (PWM) and the verbal language of six patients between 8 and 18 years old, on treatment for at least 5 years, and good control of seizures, diagnosed in the Service of Epilepsy of Hospital of Clinics of Ribeirão Preto, São Paulo University in Brazil. The Test of Repetition of Meaningless Words was used to assess PWM. Video-recorded of language samples were collected during spontaneous and directed activities for the study of verbal language and pragmatics. A qualitative analysis showed that all patients presented deficits in the execution of the PWM test and only one patient showed poor mastery of all aspects studied. These finds contribute to strategies of treatment for language problems of patients with MAES, focusing on PWA.

A evolução da síndrome epiléptica mioclônica astática (SEMA) é variável e há poucas informações sobre funções corticais. Este estudo pretendeu avaliar a memória de trabalho fonológica (MTF) e a linguagem verbal de pacientes com SEMA. Foram avaliados seis pacientes entre 8 e 18 anos em tratamento há mais de 5 anos e bom controle das crises, do Serviço de Epilepsia do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo. A Prova de Repetição de Palavras Sem Significado foi utilizada para MTF, e coletaram-se amostras de linguagem, gravadas em vídeo, durante atividades espontâneas e dirigidas para estudo da linguagem verbal e pragmática. Análise qualitativa mostrou que todos apresentaram deficiência na MTF e, exceto um, mostraram domínio dos aspectos verbais estudados. Os achados contribuem para estratégias de tratamento de problemas de linguagem de pacientes com SEMA, com maior enfoque na MTF.

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