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Rev Clin Esp ; 209(7): 337-41, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19709537

RESUMO

MELAS is a progressive neurodegenerative and fatal disease characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. It is the result of a mitochondrial DNA mutation. Although the incidence of MELAS is currently unknown, it is suspected that approximately 1 out of every 5,000 persons world-wide have some type of defect in mitochondrial DNA. Cardinal clinical features observed in more than 90% of the patients include severe headache that may be associated with stroke-like episodes, seizures and the onset of symptoms before the age of 40 years. Diagnosis is established through genetic test or by with muscle biopsies that reveal the presence of ragged-red fibers. Prognosis is poor, with death at an early age. In this article, we present the clinical case of a 31-year old women diagnosed of MELAS syndrome who was admitted to the Intensive Care Unit of our hospital with arreflexic coma.


Assuntos
Coma/etiologia , Síndrome MELAS , Acidose Láctica/diagnóstico , Adolescente , Adulto , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Efrina-A5 , Feminino , Humanos , Síndrome MELAS/complicações , Síndrome MELAS/diagnóstico , Síndrome MELAS/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Miopatias Mitocondriais/diagnóstico , Prognóstico , Tomografia Computadorizada por Raios X
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