RESUMO
OBJECTIVE: Fatty acid oxidation (FAO) disorders are frequently reported as the cause of sudden and unexpected death, but their postmortem recognition remains difficult. We have devised a biochemical protocol in which informative findings in liver tissue are microvesicular steatosis, elevated concentrations of C8-C16 fatty acids, glucose depletion, and low carnitine concentration. STUDY DESIGN: We analyzed 27 cases representing five FAO disorders and compared the results with those obtained in a retrospective blinded analysis of 418 cases of sudden infant death (313 SIDS, 45 infections, and 34 accidents and abuse). RESULTS: All cases of accidents and abuse correctly tested negative. Among the others, 25 (6%) showed at least two abnormal findings. Of these, 14 closely matched the biochemical profiles seen in specific FAO disorders. These included 2 cases with medium-chain acyl-CoA dehydrogenase deficiency, 4 cases consistent with glutaric acidemia type 2, 4 cases with either very long-chain acylcoenzyme A dehydrogenase deficiency or long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase deficiency, and 4 cases predicted to be affected with carnitine uptake defect. CONCLUSION: The results of this study support the view that approximately 5% of all cases of sudden infant death are likely caused by an FAO disorder.
Assuntos
Ácidos Graxos/metabolismo , Erros Inatos do Metabolismo Lipídico/complicações , Fígado/patologia , Morte Súbita do Lactente/etiologia , 3-Hidroxiacil-CoA Desidrogenases/deficiência , Acil-CoA Desidrogenase , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Carnitina/metabolismo , Estudos de Casos e Controles , Feminino , Glutaratos/sangue , Humanos , Lactente , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/metabolismo , Erros Inatos do Metabolismo Lipídico/patologia , Fígado/metabolismo , Masculino , Triagem Neonatal/métodos , Oxirredução , Estudos Retrospectivos , Morte Súbita do Lactente/patologiaRESUMO
En 35 ninos con diagnostico de Glomerulonefritis Aguda e Hipertension Arterial, se analizaron los cambios electroencefalograficos ocurridos en la etapa aguda de la enfermedad de base. Se demuestran alteraciones compatibles con sufrimiento neuronal de caracter reversible, en el 63% de los ninos estudiados.Se comentan y proponen los factores de riesgo, utiles en la identificacion de los pacientes con posibilidades de presentar complicaciones neurologicas
Assuntos
Doenças do Sistema Nervoso Central , Glomerulonefrite , Eletroencefalografia , HipertensãoRESUMO
The prevalence of epilepsy among children born in 1966 and reaching the age of 9 years during 1975 was investigated in Melipilla, Chile, using questions similar to those used by Rose et al. (1973). Of 2,104 potential respondents, 2,085 were interviewed. A sample of 593 children received neurological examination and 455 received an electroencephalogram. The prevalence rates for epilepsy were higher than those reported in two American studies using the same methodology. The possibility of socioeconomic factors to account for these differences was considered. Prevalence rates for simple febrile convulsions and minimal brain dysfunction were similarly calculated.