García-Ávila CA, García-Ávila D, González-Flores NJ, Sierra-García R, Sánchez-Reyes NM

Language: Spanish
References: 15
Page: 176-179
PDF size: 189.64 Kb.

ABSTRACT

Introduction: MELAS syndrome (Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is one of the most frequent multisystemic mitochondrial myopathies inherited by the mother. 80% of cases are due to a point mutation of a 3243A-G change in mtDNA in the MTTL1 gene, which conditions respiratory chain dysfunction, with the consequent alteration in the production of energy, its clinical manifestations are reflected in highly metabolic organs such as the central nervous system, heart, kidneys; the clinical criteria that should make us suspect this entity are: a stroke before 40 years old, convulsions or dementia, lactic acidosis and the biopsy of smooth muscle presence of irregular red fibers, we present a case to review current concepts. Clinical case: 22-year-old male presents with a history of two cerebral vascular events within a short period of time, without the presence of risk factors or attributable cause, for which magnetic resonance of the skull, arterial gasometry, and muscle biopsy are performed to obtain mitochondrial DNA. Conclusions: Early recognition of the disease is essential because the sequelae that can occur greatly diminish the patient’s quality of life, so it is important to implement timely treatment.

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