Assuntos
Inibidores das Descarboxilases de Aminoácidos Aromáticos/farmacologia , Benserazida/farmacologia , Dopaminérgicos/farmacologia , Epilepsia do Lobo Temporal , Hipercinese , Levodopa/farmacologia , Transtornos dos Movimentos , Diester Fosfórico Hidrolases/genética , Inibidores das Descarboxilases de Aminoácidos Aromáticos/administração & dosagem , Benserazida/administração & dosagem , Criança , Consanguinidade , Dopaminérgicos/administração & dosagem , Combinação de Medicamentos , Epilepsia do Lobo Temporal/tratamento farmacológico , Epilepsia do Lobo Temporal/genética , Feminino , Humanos , Hipercinese/tratamento farmacológico , Hipercinese/genética , Lactente , Levodopa/administração & dosagem , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/genética , Irmãos , Sequenciamento do ExomaRESUMO
The early fetal ultrasound assessment at 11â-â13(+6) weeks of gestation remains the cornerstone of care despite the progress in diagnosing fetal chromosomal defects using cell-free fetal DNA (cffDNA) from the maternal circulation. The measurement of nuchal translucency (NT) allows the risk calculation for the fetal trisomies 21, 18 and 13 but also gives information on those fetal chromosomal defects which are at present unable to be detected using cffDNA. Nuchal translucency is the only auditable parameter at 11â-â13(+6) weeks and gives thus information on the quality of the first trimester anomaly scan. In addition it gives indirect information on the risks for fetal defects and for cardiac anomalies. Also the chances for a healthy live baby can be estimated. As experience with first trimester anomaly scanning increases, and the resolution of the ultrasound equipment has increased substantially, more and more details of the fetal anatomy become accessible at the first trimester scan. Therefore fetal anatomical defects and complex anomalies have become amenable to examination in the first trimester. This guideline describes compulsory and optional parameters for investigation at the first trimester scan and outlines a structured method of examining a first trimester fetus at 11â-â13(+6) weeks of gestation.
Assuntos
Primeiro Trimestre da Gravidez , Garantia da Qualidade dos Cuidados de Saúde/normas , Ultrassonografia Pré-Natal/normas , Biometria , Aberrações Cromossômicas/embriologia , Endossonografia , Feminino , Humanos , Medição da Translucência Nucal/normas , Gravidez , Segundo Trimestre da Gravidez , Sociedades Médicas , Ultrassonografia Doppler/normasAssuntos
Sistema Livre de Células , Aberrações Cromossômicas , DNA/genética , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Testes para Triagem do Soro Materno/métodos , Diagnóstico Pré-Natal/métodos , Áustria , Feminino , Alemanha , Humanos , Recém-Nascido , Guias de Prática Clínica como Assunto , Gravidez , Suíça , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) antibodies have been recently described in children with acute disseminating encephalomyelitis (ADEM), but the clinical and neuroradiological characterisation of this subgroup is lacking. OBJECTIVE: To compare the clinical and neuroradiological features of paediatric ADEM with and without MOG antibodies. METHODS: Clinical course, cerebrospinal fluid (CSF)-, MRI studies, outcome and MOG status of 33 paediatric ADEM prospectively studied were reviewed. RESULTS: MOG antibodies (median 1:2560; range 1:160-1:20â 480) were detected in 19 children with ADEM. The majority of children showed a decline of serum MOG-IgG titres over time. Children with MOG antibodies did not differ in their age at presentation, sex ratio, the presence of oligoclonal bands, clinical symptoms or initial severity, apart from a higher CSF cell count (p=0.038), compared with children without MOG antibodies. In addition, further relapsing demyelinating episodes associated with MOG antibodies were observed only in children with MOG antibodies. All 19 children with MOG antibodies had a uniform MRI pattern, characterised by large, hazy and bilateral lesions and the absence of atypical MRI features (eg, mainly small lesions, well-defined lesions), which was significantly different compared to that of children without MOG antibodies (p=0.003; and p=0.032, respectively). In addition, children with MOG antibodies had involvement of more anatomical areas (p=0.035) including the myelon characterised by a longitudinally extensive transverse myelitis (p=0.003), more often a complete resolution of lesions (p=0.036) and a better outcome (p=0.038). CONCLUSIONS: Patients with ADEM with MOG antibodies in our cohort had a uniform MRI characterised by large, bilateral and widespread lesions with an increased frequency of longitudinal extensive transverse myelitis and a favourable clinical outcome in contrast to children lacking MOG antibodies.
Assuntos
Autoanticorpos/sangue , Encefalomielite Aguda Disseminada/diagnóstico , Encefalomielite Aguda Disseminada/imunologia , Imageamento por Ressonância Magnética , Glicoproteína Mielina-Oligodendrócito/imunologia , Adolescente , Encéfalo/imunologia , Encéfalo/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Imunoglobulina G/sangue , Masculino , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/imunologia , Mielite Transversa/diagnóstico , Mielite Transversa/imunologia , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/imunologia , Prognóstico , Estudos Prospectivos , Medula Espinal/imunologia , Medula Espinal/patologiaRESUMO
BACKGROUND: Acute cerebellitis (AC) is characterized by cerebellar symptoms and magnetic resonance imaging (MRI) changes primarily confined to the cerebellum. OBJECTIVE: To analyze the neurological and cognitive long-term outcome of children with AC. METHODS: Children with AC diagnosed by typical clinical features and MRI findings were included in this retrospective study. Medical charts were reviewed and neurological deficits were assessed by neurological examination or by the expanded disability status scale telephone interview. Cognitive outcome was evaluated with a parental questionnaire (Kognitive Probleme bei Kindern und Jugendlichen). RESULTS: A total of 11 children (6 boys, 5 girls; age range: 3 years to 14 years and 10 months) were included. Of them, six children had a severe disease manifestation including mental status changes and neurological symptoms. Of the rest, two children had a moderate and three children had a mild form of AC. MRI of the cerebellum was obtained in the acute phase revealing signal alterations with different patterns. The average follow-up period was 4 years and 4 months. A complete recovery was observed in five children. Neurological sequelae were reported in five children ranging from ataxia to mild tremor. Cognitive deficits were found in six patients. The affected areas of cognition did include spatial visualization ability, language skills, and concentration. CONCLUSION: Neurological and cognitive sequelae are common in children with AC and underline the role of the cerebellum in cognition.
Assuntos
Cerebelo/patologia , Encefalite/patologia , Adolescente , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Transtornos Cognitivos/etiologia , Encefalite/complicações , Encefalite/tratamento farmacológico , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico , Testes Neuropsicológicos , Valor Preditivo dos Testes , Estatística como Assunto , Resultado do TratamentoRESUMO
Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children with low 5-methyltetrahydrofolate concentrations in the cerebrospinal fluid and neurological symptoms that developed after infancy. We identified nucleotide alterations in the folate receptor 1 gene in 10 individuals who shared developmental regression, ataxia, profound cerebral hypomyelination and cerebellar atrophy. We found four novel pathogenic alleles, one splice mutation and three missense mutations. Heterologous expression of the missense mutations, including previously described mutants, revealed minor decrease in protein expression but loss of cell surface localization, mistargeting to intracellular compartments and thus absence of cellular binding of folic acid. These results explain the functional loss of folate receptor alpha for all detected folate receptor 1 mutations. Three individuals presenting a milder clinical phenotype revealed very similar biochemical and brain imaging data but partially shared pathogenic alleles with more severely affected patients. Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency.
Assuntos
Receptor 1 de Folato/metabolismo , Deficiência de Ácido Fólico/genética , Ácido Fólico/metabolismo , Mutação/genética , Adolescente , Alelos , Animais , Células CHO , Criança , Pré-Escolar , Cricetinae , Feminino , Fibroblastos/metabolismo , Receptor 1 de Folato/genética , Deficiência de Ácido Fólico/diagnóstico , Células Hep G2 , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Fenótipo , Transporte Proteico/genética , Tetra-Hidrofolatos/líquido cefalorraquidianoRESUMO
Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. This paper focuses on a 6-year-old patient with a new type of CDG-I caused by a defect of the steroid 5α reductase type 3 gene (SRD5A3). The clinical features were psychomotor retardation, pathological nystagmus, slight muscular hypotonia and microcephaly. SRD5A3 was recently identified encoding the polyprenol reductase, an enzyme catalyzing the final step of the biosynthesis of dolichol, which is required for the assembly of the glycans needed for N-glycosylation. Although an early homozygous stop-codon (c.57G>A [W19X]) with no functional protein was found in the patient, about 70% of transferrin (Tf) was correctly glycosylated. Quantification of dolichol and unreduced polyprenol in the patient's fibroblasts demonstrated a high polyprenol/dolichol ratio with normal amounts of dolichol, indicating that high polyprenol levels might compete with dolichol for the initiation of N-glycan assembly but without supporting normal glycosylation and that there must be an alternative pathway for dolichol biosynthesis.
Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Defeitos Congênitos da Glicosilação/enzimologia , Defeitos Congênitos da Glicosilação/genética , Proteínas de Membrana/genética , Mutação/genética , Pentanóis/metabolismo , Células Cultivadas , Cromatografia Líquida de Alta Pressão , Defeitos Congênitos da Glicosilação/diagnóstico , Dolicóis/metabolismo , Eletroforese em Gel de Poliacrilamida , Feminino , Fibroblastos , Teste de Complementação Genética , Glicosilação , Homozigoto , Humanos , Imunoprecipitação , Recém-Nascido , Focalização Isoelétrica , Masculino , LinhagemRESUMO
BACKGROUND: Epilepsy with myoclonic absences (EMA) is a rare epileptic syndrome with frequently poor response to antiepileptic treatment. Rufinamide (RUF) is a relatively new EMEA- and FDA-approved anticonvulsant licensed as an orphan drug for the adjunctive treatment of patients with Lennox-Gastaut syndrome. METHODS: A retrospective data analysis in 3 patients was performed. RESULTS: Add-on RUF treatment was initiated in 3 boys with EMA refractory to conventional antiepileptic therapy (primidone + valproic acid, n=1; levetiracetame + ethosuximide, n=2). It resulted in complete cessation of all seizures in 2, and a 50% reduction of the seizure frequency in one child, respectively. CONCLUSIONS: RUF add-on therapy should be considered in children with EMA not responding to conventional antiepileptic therapy.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Triazóis/uso terapêutico , Pré-Escolar , Humanos , Masculino , Estudos RetrospectivosRESUMO
The purpose of this study was to delineate the spectrum of neurological diseases attributed to Epstein-Barr virus (EBV) activity. The approach was a retrospective study on patients with EBV activity proven by a positive EBV antibody-specific index (AI) and/or cerebrospinal fluid (CSF) PCR. One hundred six children and adults (AI positive = 77, AI + PCR positive = 3, PCR positive = 26) were identified, most with reactivated infections. Twenty-eight showed typical EBV-related diseases (encephalitis, neuritis, meningitis), 19 further infections (HSV encephalitis, neuroborreliosis, HIV infection, bacterial meningitis), nine immune-mediated disorders (multiple sclerosis, optic neuritis), and 50 further diseases not typical for EBV. The highest AI values occurred in patients with encephalitis. No relationship between disease category or AI values and viral loads was found. Additional reanalysis of 1,500 consecutive CSF EBV PCR studies revealed the highest positive rates among patients with further infections (n = 18/227, 7.9%) but lower rates among patients with typical EBV-related disorders (5/395; 1.3%), immune-mediated disorders (n = 2/174; 1.1%) and other conditions (n = 4/704; 0.6%). Intrathecal EBV activity is not restricted to typical EBV-related disorders, unexpectedly frequent in further CNS infections and also present in non-inflammatory conditions. Prospective studies should assess the pathogenic role of EBV in these different diseases.
Assuntos
Encefalite Viral/epidemiologia , Encefalite Viral/virologia , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4/patogenicidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Antivirais/sangue , Líquido Cefalorraquidiano/virologia , Criança , Pré-Escolar , DNA Viral/líquido cefalorraquidiano , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Carga Viral , Adulto JovemRESUMO
BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) may be implicated in the immunopathogenesis of multiple sclerosis (MS) inducing demyelination in the animal model of MS. In adults reported anti-MOG antibody frequencies have been variable across a number of studies and can also be detected in controls. OBJECTIVE: To measure antibodies against MOG in paediatric patients with demyelinating disorders of the central nervous system and in controls. METHODS: Serum antibodies against MOG and myelin basic protein were measured by ELISA, flow cytometry (FACS) and in the liquid phase in 11 children with acute disseminated encephalomyelitis (ADEM), 22 children with MS, seven children with acute viral encephalitis and 13 healthy controls. The serostatus of Epstein-Barr virus (EBV) infections were assessed. RESULTS: Anti-MOG antibodies, measured either by ELISA or FACS were exclusively detected in children with demyelination. In ADEM these antibodies were highly reactive. Anti-MBP reactivity was detectable equally in all groups. The presence of either autoantibodies did not associate with EBV serostatus, age, gender or disease course. CONCLUSIONS: This study independently corroborates recently published results of seroprevalence and specificity of the assay. Due to their low sensitivity anti-MOG antibodies will not serve as disease-specific biomarkers, but could help to support the diagnosis of ADEM in difficult cases.
Assuntos
Autoanticorpos/sangue , Doenças Desmielinizantes/diagnóstico , Encefalite Viral/diagnóstico , Encefalomielite Aguda Disseminada/diagnóstico , Glicoproteína Associada a Mielina/imunologia , Adolescente , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Doenças Desmielinizantes/imunologia , Diagnóstico Diferencial , Encefalite Viral/imunologia , Encefalomielite Aguda Disseminada/imunologia , Ensaio de Imunoadsorção Enzimática , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/imunologia , Feminino , Citometria de Fluxo , França , Alemanha , Humanos , Imunidade Humoral , Masculino , Proteína Básica da Mielina , Proteínas da Mielina , Glicoproteína Mielina-Oligodendrócito , Proteínas do Tecido Nervoso/imunologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Transcrição/imunologiaRESUMO
Hepatitis E virus (HEV) is well-known to cause endemic outbreaks of hepatitis in tropical countries, mostly caused by HEV genotypes 1 or 2 and transmitted from humans to humans via the fecal-oral route. In contrast, HEV genotypes 3 or 4 are commonly encountered as sporadic cases in a non-endemic setting; these autochthonous cases are transmitted from animals to humans and commonly affect elderly male subjects. We report a five-month-old caucasian girl presenting with diarrhea, emesis, and elevated ALT. Surprisingly, acute infection with Hepatitis E virus (HEV) genotype 3 was laboratory-confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) and sequencing. Thirteen months later, RT-PCR for HEV from stool tested negative whereas anti-HEV IgG in serum tested positive. Neither HEV RNA nor anti-HEV antibodies could be detected in stool or serum of the parents. To our knowledge, this is the first pediatric case of a HEV infection in Germany. Thus, HEV should be included into the differential diagnosis of pediatric infectious liver and bowel disease.
Assuntos
Vírus da Hepatite E/isolamento & purificação , Hepatite E/diagnóstico , RNA Viral/sangue , Sequência de Bases , Fezes/virologia , Feminino , Genótipo , Alemanha , Anticorpos Anti-Hepatite/sangue , Hepatite E/virologia , Vírus da Hepatite E/imunologia , Humanos , Imunoglobulina G/sangue , Lactente , RNA Viral/análise , RNA Viral/genética , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
BACKGROUND: Respiratory infection and failure is a commonly encountered problem in intensive care unit (ICU) patients. However, despite the accumulating body of evidence to suggest that herpes simplex virus type 1 (HSV-1) is associated with pneumonia, the exact role played by this virus in this process is still not fully understood. Therefore, to identify patients at risk, we have conducted a case-control study to characterize patients with HSV-1-positive pneumonia. PATIENTS AND METHODS: Between 2007 and 2009, all patients with suspected viral pneumonia were tested for the presence of herpes viruses using a PCR assay approach with respiratory specimens. To identify possible associations, risk factors, and impact of HSV, HSV-1-positive ICU patients (n = 51) were compared to age-, gender-, and department- and season-matched HSV-negative patients (n = 52). RESULTS: HSV-positive patients differed significantly from the HSV-negative ones only in terms of time of mechanical ventilation (13 vs. 6 days, respectively; p = 0.002). Subgroup analysis in the patients aged >60 years and in those without bacterial detection revealed a similar trend (p = 0.01 and p = 0.004, respectively). Mortality did not differ between the groups or between the HSV-1-positive patients treated with aciclovir and those who were not. A viral load >10E+05 geq/ml was associated with mechanical ventilation (20/21 vs. 17/29; p = 0.004), acute respiratory distress syndrome (ARDS; 19/21 vs. 18/29; p = 0.005), sepsis (18/21 vs. 14/29; p = 0.008), detection of a bacterial pathogen in the same specimen (10/21 vs. 4/29; p = 0.01) and longer ICU stay (25 vs. 30 days; p = 0.04). CONCLUSION: Despite several associations with high viral load, the clinical outcome of HSV-1-positive ICU patients did not differ significantly from the clinical outcome of HSV-negative patients. This finding indicates that HSV-1 viral loads in respiratory specimens are a symptom of a clinically poor condition rather than a cause of it. Longitudinal and therapy studies are therefore needed to distinguish between HSV-1 as a causative pathogen and HSV-1 as a bystander of pneumonia/ARDS.
Assuntos
Pneumonia Viral/virologia , Sistema Respiratório/virologia , Simplexvirus/isolamento & purificação , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Pneumonia Viral/mortalidade , Respiração Artificial/efeitos adversos , Simplexvirus/genética , Simplexvirus/fisiologia , Carga ViralRESUMO
BACKGROUND: Whether cerebral venous sinus obstruction is a cause or consequence of idiopathic intracranial hypertension (IIH) is uncertain. METHODS AND RESULTS: Among the nine children with IIH, five showed stenosis (n = 5) and occlusion (n = 1) of cerebral venous sinus on cranial magnetic resonance imaging (n = 4) or conventional angiography (n = 1), respectively. Follow-up magnetic resonance imaging performed in four children showed complete regression of the venous pathology in one and partial regression in two of them. CONCLUSIONS: Our data demonstrate that cerebral venous sinus obstruction is frequent and frequently transient in pediatric IIH and suggest that stenoses may result from elevated intracranial pressure.
Assuntos
Cavidades Cranianas/patologia , Hipertensão Intracraniana/complicações , Pseudotumor Cerebral/complicações , Trombose dos Seios Intracranianos/etiologia , Adolescente , Fatores Etários , Pressão Sanguínea/fisiologia , Causalidade , Angiografia Cerebral , Circulação Cerebrovascular/fisiologia , Criança , Cavidades Cranianas/fisiopatologia , Progressão da Doença , Feminino , Humanos , Hipertensão Intracraniana/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pseudotumor Cerebral/fisiopatologia , Trombose dos Seios Intracranianos/fisiopatologiaRESUMO
BACKGROUND: Apart from established pathogens of lower respiratory tract infections, such as respiratory syncytial virus (RSV), an increasing number of additional agents has been identified in recent years. In 2005 the human bocavirus (hBoV) has been isolated from respiratory tract samples and has been reported worldwide with frequencies ranging from 1.5 to 18.3% in respiratory samples from children with airway infections. PATIENTS: We investigated 173 specimens of a total number of 162 children who were inpatients with severe respiratory tract infections most of whom required oxygen therapy. METHOD: We analyzed respiratory tract samples (83% nasopharyngeal washes, 15% tracheal secretions, 2% bronchoalveolar lavages) for adenoviruses, influenza A und B viruses, parainfluenzaviruses types 1 to 3 and RSV using antigen-specific immunofluorescence assays. Additionally we tested human metapneumovirus (hMPV) and hBoV using a PCR assay. MAIN RESULTS: 35.8% specimens were negative in all assays, 54.3% were positive for RSV and 9.8% were positive for adeno-, influenza-, parainfluenzaviruses or hMPV. HBoV could be detected in 17 specimens (9.8%), defining HBoV to be the second most frequent pathogen. Nine of these patients showed a coinfection with RSV, one with parainfluenza virus. Viral loads did range from 2x10 (2) to 5.6x10 (10) genome equivalents/ml with higher viral loads being observed in the first days after disease onset. Most children were infected in the months between December and April. Half of the patients with isolated HBoV infection showed rhinopharyngitis, a third suffered from pulmonary obstruction and nearly every second required oxygen therapy. However, no HBoV-specific symptoms were found. CONCLUSION: HBoV is a common pathogen causing viral respiratory tract infection in infants and young children. Among the here reported patients HBoV was the second most frequent identified pathogen. X-ray studies frequently revealed peribronchial and pneumonic infiltrates with only moderately elevated laboratory inflammatory markers. So far, no HBoV-specific clinical symptoms are known. Additional questions for example related to the way of transmission and optimal treatment remain to be investigated in prospective studies.
Assuntos
Bocavirus , Bronquite/virologia , Infecções por Parvoviridae , Infecções Respiratórias , Corticosteroides/administração & dosagem , Corticosteroides/uso terapêutico , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Bocavirus/isolamento & purificação , Lavagem Broncoalveolar , Criança , Pré-Escolar , Claritromicina/administração & dosagem , Claritromicina/uso terapêutico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Infecções por Parvoviridae/tratamento farmacológico , Infecções por Parvoviridae/epidemiologia , Infecções por Parvoviridae/virologia , Radiografia Torácica , Infecções por Vírus Respiratório Sincicial/virologia , Vírus Sinciciais Respiratórios/isolamento & purificação , Infecções Respiratórias/diagnóstico por imagem , Infecções Respiratórias/tratamento farmacológico , Infecções Respiratórias/virologia , Resultado do Tratamento , Carga ViralRESUMO
We report a 12-year-old patient with mental impairment and proximal muscle weakness who had marked involvement of the shoulder girdle and facial muscles. CK levels were above 7000 U/l, multiplex PCR dystrophin gene deletion screening was negative. Further molecular studies revealed shortened D4Z4 fragments in the patient and his asymptomatic father, establishing the diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Under the assumption of a second disease mechanism, a muscle biopsy was performed which revealed marked dystrophin deficiency. Eventually, a donor splice site mutation (c.4071+1 G>T) was found by direct sequencing of the dystrophin gene in the patient and his mother and confirmed the diagnosis of Becker's muscular dystrophy along with FSHD.
Assuntos
Distrofina/deficiência , Debilidade Muscular/diagnóstico , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular Facioescapuloumeral/diagnóstico , Criança , Análise Mutacional de DNA , Distrofina/genética , Humanos , Masculino , Debilidade Muscular/genética , Debilidade Muscular/metabolismo , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/metabolismo , Distrofia Muscular Facioescapuloumeral/genética , Distrofia Muscular Facioescapuloumeral/metabolismo , Mutação , Fenótipo , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Varicella zoster virus (VZV) vasculopathy produces stroke secondary to viral infection of cerebral arteries. Not all patients have rash before cerebral ischemia or stroke. Furthermore, other vasculitides produce similar clinical features and comparable imaging, angiographic, and CSF abnormalities. METHODS: We review our 23 published cases and 7 unpublished cases of VZV vasculopathy. All CSFs were tested for VZV DNA by PCR and anti-VZV IgG antibody and were positive for either or both. RESULTS: Among 30 patients, rash occurred in 19 (63%), CSF pleocytosis in 20 (67%), and imaging abnormalities in 29 (97%). Angiography in 23 patients revealed abnormalities in 16 (70%). Large and small arteries were involved in 15 (50%), small arteries in 11 (37%), and large arteries in only 4 (13%) of 30 patients. Average time from rash to neurologic symptoms and signs was 4.1 months, and from neurologic symptoms and signs to CSF virologic analysis was 4.2 months. CSF of 9 (30%) patients contained VZV DNA while 28 (93%) had anti-VZV IgG antibody in CSF; in each of these patients, reduced serum/CSF ratio of VZV IgG confirmed intrathecal synthesis. CONCLUSIONS: Rash or CSF pleocytosis is not required to diagnose varicella zoster virus (VZV) vasculopathy, whereas MRI/CT abnormalities are seen in almost all patients. Most patients had mixed large and small artery involvement. Detection of anti-VZV IgG antibody in CSF was a more sensitive indicator of VZV vasculopathy than detection of VZV DNA (p < 0.001). Determination of optimal antiviral treatment and benefit of concurrent steroid therapy awaits studies with larger case numbers.
Assuntos
Transtornos Cerebrovasculares/líquido cefalorraquidiano , Transtornos Cerebrovasculares/virologia , Herpesvirus Humano 3 , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/etiologia , Varicela/líquido cefalorraquidiano , Varicela/complicações , Varicela/virologia , Exantema/líquido cefalorraquidiano , Exantema/diagnóstico , Exantema/virologia , Herpes Zoster/líquido cefalorraquidiano , Herpes Zoster/complicações , Herpes Zoster/virologia , Humanos , Imageamento por Ressonância Magnética/métodosAssuntos
Anticonvulsivantes/efeitos adversos , Carbamazepina/efeitos adversos , Toxidermias/etiologia , Eosinofilia/diagnóstico , Epilepsia Parcial Complexa/tratamento farmacológico , Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/uso terapêutico , Carbamazepina/administração & dosagem , Criança , Toxidermias/diagnóstico , Feminino , Humanos , Levetiracetam , Piracetam/análogos & derivados , Piracetam/uso terapêutico , Síndrome , Fatores de TempoRESUMO
Guanidinoacetate methyltransferase deficiency typically presents with muscular hypotonia, global developmental delay, extrapyramidal signs, and seizures during infancy and childhood. The authors report a 5-year-old child with guanidinoacetate methyltransferase deficiency who presented with severe speech delay, emphasizing the importance of an early screening for disorders of creatine synthesis and transport in every infant or child with isolated speech delay of unknown cause.