Espinoza-López DA, Vargas-Cañas ES, Díaz-Alba A, Morales-Briceño H, Ramírez-Jiménez C, Fernández-Valverde F, Kazákova E

Language: Spanish
References: 0
Page: 138-141
PDF size: 0. Kb.

ABSTRACT

Mitochondrial DNA and diseases are inherited neurological disorders most frequently encountered, may be caused by mutations in the mitochondrial or nuclear DNA. These mitochondriopathies are a large group of diseases whose alteration is in the final step of oxidative metabolism and mitochondrial respiratory chain, resulting in decreased production of energy as ATP. From the classic syndromes, MELAS syndrome is one of the most common mitochondrial disease, whose clinical criteria require the presence of strokelike episodes, age younger than 40 years, encephalopathy, lactic acidosis and ragged red fibers in skeletal muscle biopsy. Recognition of the clinical spectrum of disease is important for diagnosis, for which we present two cases with different clinical presentation and neuroradiological findings.