RESUMO
MRI has become the most important modality in paediatric neuroimaging. It provides an excellent anatomical overview with good spatial and temporal resolution, allows investigations of the blood vessels, and - using technologies such as diffusion-weighted imaging and magnetic resonance spectroscopy - it allows quick and exact differentiation of ischemic, hypoxic, inflammatory, oncologic, traumatic and metabolic diseases. This review presents an overview of brain MRI in infants and children with suspected hypoxic-ischemic disease, metabolic disorders or (vascular) malformations, illustrating these issues by some MRI findings in selected important conditions and discussing some major clinical and pathophysiological aspects important for imaging.
Assuntos
Encefalopatias Metabólicas/diagnóstico , Encéfalo/anormalidades , Hipóxia-Isquemia Encefálica/diagnóstico , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/métodos , Encefalopatias Metabólicas/congênito , Criança , Pré-Escolar , Humanos , Hipóxia-Isquemia Encefálica/congênito , Lactente , Recém-NascidoRESUMO
Recent observations in two patients, one with AGAT deficiency (AGAT-D) and one with GAMT deficiency (GAMT-D), both diagnosed already at birth, provide first evidence for important therapeutic effects of pre-symptomatic treatment with creatine (Cr) supplementation in AGAT-D and Cr supplementation plus guanidinoacetate lowering strategies in GAMT-D. Although long-term data are lacking, the results suggest that complete prevention of neurological sequelae in early treated patients could be feasible (Battini et al., 2006; Schulze et al., 2006).
Assuntos
Amidinotransferases/deficiência , Encefalopatias Metabólicas/tratamento farmacológico , Encefalopatias Metabólicas/enzimologia , Creatina/uso terapêutico , Glicina/análogos & derivados , Guanidinoacetato N-Metiltransferase/deficiência , Encefalopatias Metabólicas/congênito , Glicina/uso terapêutico , HumanosRESUMO
Recently, MR imaging has become the technique of choice in evaluating neonatal central nervous system diseases. It is the only imaging technique that can discriminate myelinated from neonatal unmyelinated white matter; it offers the highest sensitivity in detecting acute anoxic injury of the neonatal brain; and with proper coils and sequences, it can exquisitely depict neonatal brain anatomy and locate pathology, offering a robust and reliable tool in the prognostic assessment of neonatal central nervous system disease.
Assuntos
Encefalopatias/diagnóstico , Encéfalo/patologia , Imageamento por Ressonância Magnética , Encefalopatias/congênito , Encefalopatias Metabólicas/congênito , Encefalopatias Metabólicas/diagnóstico , Infecções do Sistema Nervoso Central/congênito , Infecções do Sistema Nervoso Central/diagnóstico , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico , Recém-Nascido , Hemorragias Intracranianas/diagnósticoRESUMO
Proton Nuclear Magnetic Resonance (NMR) spectroscopy was used to quantitatively determine cerebral N-Acetyl Aspartate (NAA) concentrations in four patients with Canavan's disease and in four age-matched control subjects. Macroscopic NAA concentrations (mumol/gm wet weight) were not found to be significantly different from controls. Reduced levels of choline and creatine were observed in all patients, and increased levels of lactate and inositol in the eldest three patients.
Assuntos
Amidoidrolases/deficiência , Ácido Aspártico/análogos & derivados , Encefalopatias Metabólicas/congênito , Encéfalo/metabolismo , Espectroscopia de Ressonância Magnética , Adolescente , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Ácido Aspártico/metabolismo , Encefalopatias Metabólicas/diagnóstico , Encefalopatias Metabólicas/metabolismo , Pré-Escolar , Feminino , Humanos , Lactente , Judeus/genética , MasculinoAssuntos
Acidose Láctica/complicações , Encefalopatias Metabólicas/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Mitocôndrias/patologia , Acidose Láctica/congênito , Encefalopatias Metabólicas/congênito , Encefalopatias Metabólicas/patologia , Transtornos da Alimentação e da Ingestão de Alimentos/congênito , Humanos , Lactente , MasculinoRESUMO
An inherited defect in the glycine cleavage enzyme results in the condition of neonatal glycine encephalopathy which has not responded to the current innovative methods of therapy. A re-examination of the enzyme structure and metabolic pathways, leads us to recommend future clinical evaluation of (1) vitamin-responsiveness, e.g., pyridoxine, folate and lipoic acid, (2) methionine, (3) N5, N10-methylene tetrahydrofolate and (4) alpha-methylserine therapy during the critical period of neonatal brain growth and development.
