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Revista Uruguaya de Medicina Interna

Print version ISSN 2393-6797On-line version ISSN 2393-6797

Abstract

LEGNANI, Mariana et al. MELAS SYNDROME as unusual ischemic stroke CAUSE: Presentation of a clinical case. Rev. Urug. Med. Int. [online]. 2016, vol.1, n.2, pp.53-58. ISSN 2393-6797.

Mitochondriopathies are a wide spectrum of diseases characterized by abnormal mitochondrial metabolism. Within these diseases is the MELAS, whose acronym means mitochondrial encephalomyopathy, lactic acidosis and "stroke-like" episodes. It is a syndrome of heterogeneous clinical presentation that should be considered as an unusual cause of stroke in young patients. Brain MRI can provide the diagnostic key with areas of ischemia without respect for arterial vascular territories. Muscle biopsy may suggest mitochondrial disease with the finding of ragged red fibers. The definitive diagnosis of MELAS is done through genetic analysis with mutations in the mtDNA. We described the first clinical confirmed case of MELAS with "stroke-like" episodes in adulthood reported in our country.

Keywords : MELAS; stroke-like.

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