MELAS is an acronym for the convergence of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes. It was described by Pavlakis et al. in 1984.
Clinically Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy (PME). It develops due to mutations in gene that encodes laforin or malin, which may be involved in regulating the glycogen metabolism. Pathognomonic Lafora bodies are composed by dense aggregates of polyglucosans inclusions, found in brain and other organs. We describe 18 year old female with family history of myoclonic epilepsy. She developed worsening myoclonic seizures with correlative electroencephalogram abnormalities and a progressive mental deterioration. Diagnosis was confirmed with periodic acid-schiff (PAS) positive lafora bodies and ubiquitin-positive inmunohistochemical stain, which helped to distinguish from other PAS positive inclusions. This is the first case describe of Lafora disease in Chile.
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