RESUMO
Pediatric ischemic stroke, though relatively rare, remains an important medical problem since 20-40% of patients have recurrent strokes and 50-85% of them suffer from long-term neurological deficits. Approximately 20-50% of the affected children have prothrombotic disorders, therefore upon looking for possible genetic causes of the disease we focused on the plasminogen activator inhibitor (PAI-1)--the major inhibitor of fibrinolysis. The aim of the present study was to investigate a possible association between the -675_-674insG PAI-1 gene polymorphism and pediatric ischemic stroke. The study population consisted of 343 individuals: 70 children with ischemic stroke, 140 their biological parents and 133 control children. The PAI-1 gene polymorphism was genotyped using the restriction fragment length polymorphism and was visualized by AgNO3 staining. The transmission/disequilibrium test showed exactly the same transmission of alleles from parents to the affected children (37:37). The case-control model also did not reveal any statistical significance in alleles and genotypes distribution between patients and control children. The obtained results suggest that the 4 G/5 G polymorphism of the PAI-I gene is not a risk factor of ischemic stroke in Polish children.
Assuntos
Saúde da Família , Predisposição Genética para Doença , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo Genético/genética , Acidente Vascular Cerebral/genética , Adolescente , Isquemia Encefálica/complicações , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Lactente , Recém-Nascido , Polônia , Fatores de Risco , Acidente Vascular Cerebral/etiologiaRESUMO
BACKGROUND/PURPOSE: Data on the role of the -455G > A polymorphism of the gene encoding ß fibrinogen subunit (FGB) and the Thr312Ala polymorphism of the gene for the α fibrinogen subunit (FGA) in childhood ischemic stroke are insufficient. Therefore the aim of the study was to evaluate a possible association between these two polymorphisms and arterial ischemic stroke. METHODS: The study group consisted of 85 children after ischemic stroke, 146 of their parents and 159 controls. Both polymorphisms were genotyped using the restriction fragment length polymorphism method. Two study designs were used: a case-control model and a family-based transmission-disequilibrium test. Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. RESULTS: In the TDT test, a tendency to a higher transmission of the 312Ala allele of the FGA gene and the -455A allele of the FGB gene was observed, however, it was statistically non-significant. The frequencies of alleles and genotypes of both FGA and FGB genes polymorphisms did not differentiate children from both groups also in the case-control model. Additive or synergistic effects between FGA and FGB genes polymorphisms were not observed. CONCLUSION: An analysis of the results obtained in this study and a critical review of previously published data indicate that examined gene polymorphisms are not related to ischemic stroke in children.
Assuntos
Fibrinogênio/genética , Acidente Vascular Cerebral/genética , Adolescente , Alelos , Estudos de Casos e Controles , Criança , Feminino , Genótipo , Humanos , Masculino , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA family from Poland. We found that the patient was in a state of compound heterozygosity. He had one mutant allele with a novel G>A substitution in the conserved splice junction donor site affecting the first base pair of intron 5 (IVS5+1G>A). In the other allele he had a cluster of four single nucleotide substitutions in exon 15: an 1876C>T change (relative to the transcription start site) and three G>T changes (1904G>T, 1909G>T and 1915G>T). All of these mutations change the sense of the codons: H598Y, G607V, E609X and V611L, respectively. Mutations E609X and V611L are novel and unique to the patient family and at least one of them, which creates a premature stop codon in position 609, should have a deleterious effect on the gene function. The other two substitutions H598Y and G607V are most likely rare polymorphisms, which are in linkage disequilibrium. They occur together with an estimated allele frequency of about 6%. Our report increases the spectrum of NTRK1 mutations in CIPA patients and describes an unusual case of a cluster of four mutations located close to each other in one exon.
Assuntos
Alelos , Processamento Alternativo/genética , Éxons/genética , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Íntrons/genética , Mutação/genética , Receptor trkA/genética , Sequência de Aminoácidos , Substituição de Aminoácidos/genética , Células Cultivadas , Criança , Feminino , Triagem de Portadores Genéticos , Neuropatias Hereditárias Sensoriais e Autônomas/metabolismo , Humanos , Masculino , Dados de Sequência Molecular , LinhagemRESUMO
Neuropathies where there is an association with acquired peripheral nerves dysfunction and inflammation include inflammatory neuropathies (IN), as well as sequelae of vaccinations involving peripheral nerves. In a small portion of these diseases central nervous system is involved. In the years 1996-2000, among 22 children with acute flaccid paresis who were hospitalized in the Kraków Department of Paediatric Neurology, there were 16 patients with IN, including 13 with Guillain-Barré syndrome, single cases of Miller-Fisher syndrome, chronic inflammatory demyelinating polyneuropathy involving central nervous system and neuroborreliosis. Additionally, four children were hospitalized for optic neuritis. The author presents data on aetiology, electrophysiology and follow-up of these patients, as well as describes the management and outcome. Apart from their cognitive and practical value, these data significantly correspond with the currently implemented program of poliomyelitis eradication.
Assuntos
Doenças do Sistema Nervoso Central/tratamento farmacológico , Síndrome de Guillain-Barré/tratamento farmacológico , Doença de Lyme/tratamento farmacológico , Síndrome de Miller Fisher/tratamento farmacológico , Poliomielite/tratamento farmacológico , Adolescente , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/etiologia , Criança , Pré-Escolar , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/tratamento farmacológico , Doenças Desmielinizantes/etiologia , Diagnóstico Diferencial , Feminino , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/etiologia , Humanos , Doença de Lyme/diagnóstico , Doença de Lyme/etiologia , Masculino , Síndrome de Miller Fisher/diagnóstico , Síndrome de Miller Fisher/etiologia , Poliomielite/induzido quimicamente , Poliomielite/diagnóstico , Índice de Gravidade de DoençaRESUMO
A case of Tolosa-Hunt syndrome is described in a girl aged 2.5 years with a recurrence at the age of 4.5 years. Remissions with slight residual signs were obtained after steroid treatment. The physical state showed participation of the vascular factor and the results of laboratory investigations indicated participation of the inflammatory factor in the aetiopathogenesis of the syndrome.
Assuntos
Oftalmoplegia/diagnóstico , Pré-Escolar , Feminino , Humanos , Oftalmoplegia/terapia , RecidivaRESUMO
Lysozyme concentration in the cerebrospinal fluid was determined in 21 children with epilepsy and 22 children with subacute sclerosing panencephalitis. In most children in both groups the concentration of the enzyme was in the range of control values, but in the remaining children it was above the upper limit of these values. No correlation was demonstrated between lysozyme concentration and total protein level in the cerebrospinal fluid. The causes of raised values of cerebrospinal concentration in these children are discussed.
Assuntos
Encefalite/líquido cefalorraquidiano , Epilepsia/líquido cefalorraquidiano , Muramidase/líquido cefalorraquidiano , Doença Aguda , Adolescente , Proteínas do Líquido Cefalorraquidiano/análise , Criança , Pré-Escolar , Humanos , Lactente , EscleroseRESUMO
The authors analysed the causes of mirror writing and its evolution in a girl aged 7-9 years. Among the possible causes they consider changing lateralization of extremities, absence of evident predominance of a hemisphere, acquiring of this writing by exercise through imitation with the left hand of the writing movements performed by the right hand, and the possibility of microtrauma of the central nervous system. It is stressed that the mental development was normal and there were on features of developmental dyslexia.
Assuntos
Dominância Cerebral/fisiologia , Escrita Manual , Criança , Feminino , Seguimentos , Humanos , Fadiga Mental/fisiopatologia , Fadiga Mental/psicologia , Desempenho Psicomotor/fisiologiaRESUMO
In cerebrospinal fluid samples obtained from lumbar tap from 31 children with subacute sclerosing panencephalitis the concentration of total protein was determined and electrophoretic separation of protein fractions on paper was carried out from 1 to 28 months after the onset of first clinical symptoms. Moreover, in 22 children the concentration of IgG was determined by electroimmunodiffusion. The reference group included 22 children without organic diseases of the central nervous system. In nearly half the samples of the cerebrospinal fluid obtained from these children a rise was observed in total protein level, and in most samples a significant fall of albumin proportion and an evident rise of this relative proportion of globulins (tau + gamma) and IgG immunoglobulins was observed. No correlation was demonstrated between changes in cerebrospinal proteins and the phase of the disease and its duration.
Assuntos
Albuminas/líquido cefalorraquidiano , Proteínas do Líquido Cefalorraquidiano/análise , Globulinas/líquido cefalorraquidiano , Imunoglobulina G/líquido cefalorraquidiano , Pré-Albumina/líquido cefalorraquidiano , Albumina Sérica/líquido cefalorraquidiano , Panencefalite Esclerosante Subaguda/líquido cefalorraquidiano , Adolescente , Albuminas/deficiência , Criança , Pré-Escolar , Humanos , Hipergamaglobulinemia/líquido cefalorraquidiano , Hipoproteinemia/líquido cefalorraquidiano , Panencefalite Esclerosante Subaguda/imunologiaRESUMO
In 10 children after operations for cerebellar medulloblastoma treated with intrathecal injections of methotrexate changes were studied in the concentration of total protein in the cerebrospinal fluid and in different electrophoretic fractions of proteins. The investigations were begun 1 to 3 months after the operation and were continued usually at monthly time intervals. In each child considerable variations were observed in the concentration of total protein as well as in the proportions of protein electrophoretic fractions in the period of treatment lasting from 14 to 59 months after the operation. Significant individual variations were observed also in the level of total protein fractions pattern in the cerebrospinal fluid. Out of 116 electrophorograms in 42 the protein fraction pattern in the cerebrospinal fluid approached very much that found in patients with cerebellar medulloblastoma before the operation, with a significant rise in the proportion of albumins. The origin of cerebrospinal fluid proteins is discussed.
Assuntos
Neoplasias Cerebelares/líquido cefalorraquidiano , Proteínas do Líquido Cefalorraquidiano/análise , Meduloblastoma/líquido cefalorraquidiano , Neoplasias Cerebelares/tratamento farmacológico , Neoplasias Cerebelares/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Meduloblastoma/cirurgia , Metotrexato/farmacologia , Metotrexato/uso terapêutico , Cuidados Pós-OperatóriosRESUMO
In the cerebrospinal fluid of 26 children with SSPE the levels of prealbumins and total proteins were determined and electrophoretic separation of proteins was done. The usefulness is discussed of the percent proportion of prealbumins in the cerebrospinal fluid as a criterion indicating damage to the blood-cerebrospinal fluid barrier with increased penetration of proteins in SSPE. It is concluded that in diseases in which biosynthesis occurs of proteins in the central nervous system the percent proportion of prealbumins fails to reflect the integrity of the brain-cerebrospinal fluid barrier.
Assuntos
Proteínas do Líquido Cefalorraquidiano/análise , Pré-Albumina/líquido cefalorraquidiano , Panencefalite Esclerosante Subaguda/líquido cefalorraquidiano , Adolescente , Criança , Pré-Escolar , Humanos , Valores de Referência , Panencefalite Esclerosante Subaguda/diagnóstico , gama-Globulinas/líquido cefalorraquidianoRESUMO
A case of cerebro-muscular disease is reported in a 5-year-old girl with normal mental development. The changes resembled those in Fukuyama dystrophy, but the clinical picture differs from that dystrophy in normal mental development and absence of other pathological changes in the central nervous system.
Assuntos
Leucoencefalopatia Multifocal Progressiva/etiologia , Distrofias Musculares/complicações , Pré-Escolar , Feminino , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Distrofias Musculares/congênito , Tomografia Computadorizada por Raios XRESUMO
In 46 children with partial and primarily generalized seizures monotherapy was started with amizepine, luminal, mysodin or phenytoin. The treatment was monitored determining serum concentrations of the drugs. Monotherapy was effective in 74% of cases. In 89% of them the duration of treatment was one year, at least. In some children the values of amizepine, luminal and mysodin concentrations below the therapeutic level were effective. The evolution of electroencephalographic changes failed to correspond strictly to the clinical results of the treatment.
Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Adolescente , Anticonvulsivantes/sangue , Criança , Pré-Escolar , Resistência a Medicamentos , Humanos , Monitorização FisiológicaRESUMO
This paper shows the clinical status and neuroimaging data in the youngest described Polish child with Canavan disease.
Assuntos
Doença de Canavan/diagnóstico , Encéfalo/patologia , Ecoencefalografia , Eletroencefalografia , Feminino , Humanos , Lactente , Imageamento por Ressonância MagnéticaRESUMO
A total of 225 video-EEG examinations were performed in 179 children with various types of paroxysmal events, including 41 children aged 1-24 months of life and 138 patients aged 3-18 years. The studies were repeated in 25 patients; 80 one-hour recordings, 115 two-hour and 30 three-hour recordings were made. In selected cases EEG stimulating methods were employed, as well as tests provoking psychogenic events. In younger children video-EEG allowed confirming and more precise characterization of seizures in 19 of 41 patients (46.3%), whereas the corresponding number in older children was 17.4% (24 of 138 patients). In two children whose epilepsy was treated surgically, video-EEG was a significant element of preoperative diagnostic management. The use of the method allowed for diagnosing epileptic syndromes, Landau-Kleffner syndrome, reflex epilepsy, photogenic epilepsy and infant myoclonus epilepsy in 11 children. Video-EEG made it possible to rule out epilepsy in 3 of 41 younger children (7.3%) and in 24 of 138 older patients (17.4%). In 10 of 138 patients aged 12-17 years (7.3%), the method facilitated the diagnosis of psychic epilepsy, what allowed for initiation of an appropriate management without the administration of anti-epileptic drugs. In approximately one third of patients, video-EEG evaluation was helpful in selecting appropriate therapy.
Assuntos
Encefalopatias/induzido quimicamente , Eletroencefalografia , Epilepsia/diagnóstico , Adolescente , Encefalopatias/complicações , Encefalopatias/terapia , Criança , Pré-Escolar , Epilepsia/etiologia , Feminino , Humanos , Lactente , Masculino , Monitorização Fisiológica , Cuidados Pré-Operatórios , Gravação em VídeoRESUMO
Progress of diagnostic methods in recognition of spinal muscular atrophy (SMA), the most common degenerative disease of the nervous system in children has been observed in the last years. It has been proved, that all types of SMA, phenotypically variable Werdnig-Hoffman and Kugelberg-Welander diseases are results of homozygous absence of the telomeric copy of SMN gene located on the long arm of chromosome 5; this discovery was very important for mechanisms investigation. Based on the evolution of SMA diagnostic, the results of diagnostic in 18 children hospitalized in the Department of Pediatric Neurology Collegium Medicum of Jagiellonian University are presented. In the years 1995-1997 the basic procedure for confirming the diagnosis of SMA has been muscle biopsy. Molecular studies introduced in 1998 were a chance for confirmation not only classical, but other than three main clinical SMA phenotypes. The molecular analysis performed in children allowed to confirm diagnosis in 7 patients, showing in 5 cases absence of exon 7 of the SMN gene and in 2 children detecting deletions involving SMN and NAIP genes. In the less typical cases the results of molecular analysis were less definite.
Assuntos
Cromossomos Humanos Par 5/genética , Deleção de Sequência , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/genética , Adolescente , Biópsia , Criança , Pré-Escolar , Éxons/genética , Feminino , Humanos , Lactente , Masculino , FenótipoRESUMO
Persistent cavum septi pellucidi (CSP) is a congenital anomaly of the midline, regarded as a marker of cerebral dysgenesis. It is more commonly encountered in patients with disturbances of intellectual development. Experimental data point to the role of CSP in memory and learning-related processes, and also to its association with disturbances of bioelectric activity of the brain. Various authors emphasize its occurrence in schizophrenia, various motor syndromes and some selective developmental deficits. Of a great significance in the better understanding of CSP will be the assessment of the bilateral brain bioelectric activity in children, as well as neuropsychological evaluation of the very patients at subsequent developmental stages. This will allow for a detailed assessment of their quality of life and neurodevelopmental problems, as well as for an early introduction of thus identified therapeutic management.
Assuntos
Septo Pelúcido/anormalidades , Adulto , Criança , Humanos , Deficiências da Aprendizagem/etiologia , Transtornos da Memória/etiologia , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/terapia , Testes NeuropsicológicosRESUMO
The clinical picture of intoxication with dichlorophenoxy acetic herbicides is well recognised in adults and some treatment recommendations are established. To the best of our knowledge there is scarcity of well documented cases of intoxication with this substance in children. Our report describes the clinical picture of Chwastox intoxication in a 3-year-old child. Some similarities and differences between adults and children are discussed, as well as the indications for plasmapheresis, which could be a valuable mode of treatment in such cases.
Assuntos
Ácido 2-Metil-4-clorofenoxiacético/intoxicação , Herbicidas/intoxicação , Doenças do Sistema Nervoso/induzido quimicamente , Pré-Escolar , Feminino , Humanos , Doenças do Sistema Nervoso/terapia , PlasmafereseRESUMO
The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)