[MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes): report of a case].
The case of 12 years-old boy with seizures, headache, severe vomit and focal neurological signs is reported. These episodes had several recurrences and regression with little neurologic deficits. In the investigation it was found: lactic acidosis; stroke like episodes and calcification in the basal ganglia on computerized axial tomography; ragged red fibers on muscle biopsy and decreased of cytochrome C oxidase in the muscle tissue. A revision about mitochondrial disorders with involvement of the central nervous system and muscle is made, with emphasis on diagnosis and recognition of MELAS.
Werneck
L C
LC
Departamento de Clínica Médica, Universidade Federal do Paraná, Curitiba.
Abdalla
H
H
Lohr
A
A
D000140:Acidosis, Lactic / Q000175:diagnosis*; D001927:Brain Diseases / Q000175:diagnosis*; D002561:Cerebrovascular Disorders / Q000175:diagnosis*; D002648:Child; D003576:Electron Transport Complex IV / Q000032:analysis; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000473:pathology*; D009245:NADH Dehydrogenase / Q000032:analysis; D014057:Tomography, X-Ray Computed
D007773:Lactates; D019344:Lactic Acid; D009245:NADH Dehydrogenase; D003576:Electron Transport Complex IV
MELAS (mitochondrial encephalopathy, lactic acidosis and stroke like episodes): relato de um caso.