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Gaceta Médica Boliviana

On-line version ISSN 1012-2966

Abstract

PADIN, Carlos Eduardo; ZIRULNIK, Esteban Raúl; RITA ABRAHAM, Cecilia  and  ROJAS SALAZAR, Enrique Gonzalo.   Mitochondrial encephalomyopathy lactic acidosis and stroke like episodes MELAS syndrome. Report of a clinical case. Gac Med Bol [online]. 2015, vol.38, n.1, pp.34-37. ISSN 1012-2966.

Mitochondrial diseases are neurological disorders that are inherited maternally, the MELAS syndrome is considered a rare multisystem neurodegenerative disorder with a poor prognosis, has an incidence of 16,3 / 100 000 cases, this syndrome is manifested before age 40 years, characterized by convulsive, altered state of consciousness, lactic acidosis, and stroke, these manifestations are usually evident in advanced stages, making it difficult to diagnosis; being necessary equipment multi-disciplinary where laboratory studies and imaging techniques play a fundamental role. We present the case of a male patient of 29 years, who attended in Emergency of Hospital Central Mendoza-Argentina with a history of mother and sister dead. Both Computed tomography and Magnetic resonance showed infarcted areas with localization temporo-parieto-occipital, accompanied by calcifications in the basal nuclei, reaching the diagnosis of MELAS. for this syndrome there is not definitive treatment, only palliative.

Keywords : MELAS; mitochondrial diseases; lactic acidosis; magnetic resonance; computed tomography.

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