Dulce Anabel Espinoza-López, Edwin Steven Vargas-Cañas, Alexandra Díaz-Alba, Hugo Morales-Briceño Ramírez-Jiménez C, Fernández-Valverde F, Kazákova E

Language: Spanish
References: 9
Page: 138-141
PDF size: 92.05 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.

REFERENCES

1. Schapira Anthony, Mitochondrial DNA and disease. Continuum Lifelong Learning Neurol 2008; 14(2):133-48.

2. Rodríguez Violante M, Cervantes Arriaga A, Vargas Cañas S, Corona T. Papel de la función mitocondrial en las enfermedades neurodegenerativas. Arch Neurocien (Mex) 2010;1:1:39-46.

3. Schaefer AM, McFarland R, Blakely EL. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35–9.

4. McFarland R, Taylor Robert W, Turnbull Douglass M. The neurology of mitochondrial DNA disease. Lancet Neurol 2002; 1: 343–51.

5. McFarland R, Taylor Robert W, Turnbull Douglass M. A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-40.

6. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.

7. Douglas M. Sproule, Petra Kaufmann. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. Ann NY Acad Sci 2008; 1142: 133-58.

8. Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology 2006; 66: 1932-4.

9. Cano A, Romero A, Bravo F, Maria JM, Espejo S. Síndrome MELAS: hallazgos neurorradiológicos. Radiol 2002;44(2):69-74.