Asunto(s)
Síndrome de Fatiga Crónica , Narcolepsia , Síndrome de Taquicardia Postural Ortostática , Adolescente , Comorbilidad , Síndrome de Fatiga Crónica/epidemiología , Síndrome de Fatiga Crónica/genética , Genotipo , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Mutación , Síndrome de Taquicardia Postural Ortostática/genéticaRESUMEN
AIMS: To investigate clinical characteristics and surgery outcomes of young children with focal cortical dysplasia (FCD) type II. METHODS: Young children (onset age ≤6 years) with FCDII who underwent epileptic surgery in Children Epilepsy Center of Peking University First Hospital in 2014-2018 were followed up for at least 6 months after surgery. RESULTS: One hundred and twelve children with FCDII were included, with median age of onset 0.9 years (0.01-5.9), who underwent surgery at 4.1 years old (0.8-16.2). Focal seizures were most frequent (90.2%) and epileptic spasms presented in 23 (20.5%) cases. Epileptic encephalopathy was not uncommon (12.5%), associated with earlier epilepsy onset and higher rate of bilateral onset on ictal EEG (OR = 0.213, 9.059; P = .041, .004). At the last follow-up, 88.4% achieved seizure-free. Before surgery, 49.1% showed moderate/severe developmental delay, associated with earlier seizure onset and higher rate of history of epileptic encephalopathy (OR = 0.740, 5.160, P = .023, .042). For 48 children with preoperatively moderate/severe developmental delay, DQ rank at 6 months postsurgery was improved in only four cases. CONCLUSION: For young children with FCDII, they tend to present with epileptic encephalopathies and show moderate/severe developmental delay before surgery. The seizure outcome was favorable after surgery. For children with preoperatively moderate/severe developmental delay, developmental outcome at 6 months after surgery was not satisfactory.
Asunto(s)
Epilepsia/fisiopatología , Epilepsia/cirugía , Malformaciones del Desarrollo Cortical de Grupo I/fisiopatología , Malformaciones del Desarrollo Cortical de Grupo I/cirugía , Procedimientos Neuroquirúrgicos/métodos , Adolescente , Edad de Inicio , Niño , Preescolar , Discapacidades del Desarrollo/complicaciones , Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/etiología , Epilepsia Refractaria/cirugía , Electroencefalografía , Epilepsia/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical de Grupo I/diagnóstico por imagen , Tomografía de Emisión de Positrones , Estudios Retrospectivos , Convulsiones/cirugía , Resultado del TratamientoRESUMEN
OBJECTIVE: To investigate the clinical features and surgical strategy for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia and to assess the surgical outcomes. METHODS: The clinical features and preoperative evaluation results of 14 children with intractable epilepsy due to posterior quadrantic cortical dysplasia were retrospectively analyzed. The localization values of video-electroencephalography and intraoperative monitoring and the indications, advantages and disadvantages of temporoparietooccipital disconnection were evaluated. RESULTS: The 14 children had different seizure types, of which spasm was the most common one. The lesions of cortical dysplasia involved the central cerebral region in 2 cases. After temporoparietooccipital disconnection in 14 patients, 13 cases were seizure-free; only one case still had seizures, but the frequency dropped by more than 50%. CONCLUSIONS: Temporoparietooccipital disconnection is a safe and effective surgical procedure for children with intractable epilepsy due to posterior quadrantic cortical dysplasia.
Asunto(s)
Epilepsia/cirugía , Malformaciones del Desarrollo Cortical/complicaciones , Niño , Preescolar , Electroencefalografía , Epilepsia/etiología , Epilepsia/fisiopatología , Potenciales Evocados Somatosensoriales , Femenino , Humanos , Lactante , MasculinoRESUMEN
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is one of the most common autoimmune encephalitis in children with characterized clinical features. Here we review clinical presentations of typical and atypical anti-NMDAR encephalitis and characteristics of clinical presentations of pediatric anti-NMDAR encephalitis.
Asunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Niño , HumanosRESUMEN
OBJECTIVE: To investigate epidemiological characteristics of prevalence, impact factors and etiology on developmental delay of 18-month-old children from four districts/counties in Beijing. METHODS: An epidemiological study on developmental delay was designed to investigate all the 18-month-old children enrolled from Shunyi,Daxing,Miyun and Yanqing districts/counties in Beijing from May to September, 2011. Combining the tertiary network of child health with hospital clinical study was used. Child developmental questionnaires were completed by doctors in communities of the first network of child health. Gesell Developmental Schedules for children with Denver developmental screening test (DDST) screening positive results were assessed by doctors in districts/counties hospitals of the second network of child health. The children diagnosed as developmental delay were transferred to the tertiary hospitals of the third network of child health for further etiological diagnosis, follow-up and developmental evaluation. The case-control study compared between children with/without developmental delay were performed in accordance with the 1:4 ratios by gender and residence community matched. SPSS 16.0 was adopted for data analysis of the case-control study. RESULTS: A total of 3 182 children were screened among the 4 037 children fitting the criteria,and the coverage rate was 78.8% (3 182/4 037). Of the 3 182 screened children, 22 children were diagnosed as developmental delay. The prevalence rate was 6.91 (22/3 182). Out of the 22 children with developmental delay, 15 were boys and 7 were girls. The sex ratio was 2.1:1. The prevalence rates of the children with developmental delay in Shunyi, Daxing, Miyun and Yanqing were 3.45 (4/1 160), 4.50 (5/1 111), 15.87 (7/441) and 12.77 (6/479), respectively. The results from one-way ANOVA analysis showed the main risk factors in children with developmental delay included low-income families, mothers' low educational level, small size for gestational age infant, multiple fetuses, serious diseases after birth, congenital malformations and physical retardation (P<0.05). CONCLUSION: The screening coverage rate of this study is 78.8%. The prevalence rate of children with developmental delay is 6.91 , which is significantly different in sex ratio and districts of the subjects. The etiology of developmental delay might be associated with social-economic and biological factors.
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Discapacidades del Desarrollo/epidemiología , China/epidemiología , Discapacidades del Desarrollo/etiología , Femenino , Humanos , Lactante , Masculino , Tamizaje Masivo , Prevalencia , Factores de Riesgo , Factores Socioeconómicos , Encuestas y CuestionariosRESUMEN
Methylmalonic aciduria combined homocysteinemia can cause multisystemic damages, mainly involving central nervous system, while the peripheral nerves are rarely impaired. A 10-year-old boy complained of weakness of both lower extremities for 1 month. His past history showed mildly delay of intelligence as well as motor development. He had proteinuria when he was 3 years old and was diagnosed as epilepsy, which was controlled by sodium valproate when he was 8 years 6 months old. His physical examination showed attenuated bilateral knee jerk reflex, while the bilateral achilles tendon reflex was absent; the examination of sensation was normal and the bilateral Babinski sign was positive. The electromyography indicated injury of peripheral nerves. The elevated levels of urine methylmalonic aciduria and plasma homocysteinemia were consistent with the diagnosis of methylmalonic aciduria combined homocysteinemia. The pathogenic gene was confirmed as MMACHC, on which two pathogenic mutations (c.365A>T and c.609G>A) were detected. cblC defect was confirmed. He was treated by vitamin B12, calcium folinate, L-carnitine and betaine supplementation, and significant improvement was observed after 6 months. According to this case, we suggest that urinary organic acid analysis and plasma homocysteine should be performed in patients with unknown peripheral neuropathy, especially combined with multisystemic damages.Early diagnosis and treatment are important to improve the prognosis.
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Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Hiperhomocisteinemia/complicaciones , Enfermedades del Sistema Nervioso Periférico/etiología , Errores Innatos del Metabolismo de los Aminoácidos/genética , Secuencia de Bases , Proteínas Portadoras/genética , Niño , Humanos , Hiperhomocisteinemia/genética , Masculino , Datos de Secuencia Molecular , Mutación , OxidorreductasasRESUMEN
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed to identify and fine map the chromosome deletion regions of Chinese children with Wolf-Hirschhorn syndrome among the developmental delay/mental retardation (DD/MR) patients. METHODS: We analyzed the relationship of phenotype and genotype. Inclusion criteria were: moderate to severe DD/MR, no definite perinatal brain injury, and no trauma, toxication, hypoxia, infection of central nervous system; routine karyotyping was normal, no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; no mutation of FMR1 in male patients, no typical clinical manifestation of Rett syndrome in female patients. Multiplex ligation-dependent probe amplification (MLPA) and Affymetrix genome-wide human SNP array 6.0 assays were applied to accurately define the exact size of subtelomeric aberration region of four WHS patients. RESULTS: All four WHS patients presented with severe DD, hypotonia and microcephaly, failure to thrive, 3/4 patients with typical facial features and seizures, 2/4 patients with congenital heart defects and cleft lip/palate, 1/4 patients with other malformations. The length of the deletions ranged from 3.3 Mb to 9.8 Mb. Two of four patients had "classic" WHS, 1/4 patients had "mild"-to-"classic" WHS, and 1/4 patients had "mild" WHS. CONCLUSIONS: WHS patients in China appear to be consistent with those previously reported. The prevalence of signs and symptoms, distribution of cases between "mild" and "classic" WHS, and the correlation between length of deletion and severity of disease of these patients were all similar to those of the patients from other populations.