Image findings in Mitochondrial encephalomyopathy, Lactic acidosis, and Stroke-like episodes (MELAS) - A rare case report
Abstract
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome
is a progressive neurodegenerative disorder caused by defects in intracellular energy production that
begins in childhood, usually between two and fifteen years of age. Seizures, diabetes mellitus,
hearing loss, cardiac disease, short stature, endocrinopathies, exercise intolerance, and
neuropsychiatric dysfunction are common features. The most common mtDNA point mutation is an
A.G transition at the tRNA Leu (UUR) 3243, causing a defect in the mitochondrial protein synthesis
leads to depletion of NAD and NADH.with build up of lactic acid in brain causing neuronal death. we
are presenting a rare case of MELAS in an adolescent girl with typical imaging features.
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Fujii T, Okuno T, Ito M, et al. CT, MRI, and autopsy findings inbrain of a patient with MELAS.
Pediatr Neurol 1990;6:253–256
Matthews P, Tampieri D, Berkovich S, et al. Magnetic resonanceimaging shows specific
abnormalities in the MELAS syndrome.Neurology 1991;41:1043–1046
Barkovich A, Good W, Koch T, Berg B. Mitochondrial disorders: analysis of their clinical and
imaging characteristics. AJNR Am JNeuroradiol 1993;14:1119–1137
Wray S, Provenzale J, Johns D, Thulborn K. MR of the brain inmitochondrial myopathy. AJNR
Am J Neuroradiol 1995;16:1167–1173
Kim I, Kim J, Kim W, Hwang Y, Yeon K, Han M. Mitochondrialmyopathy, encephalopathy, lactic
acidosis and stroke-like episodes (MELAS) syndrome: CT and MR findings in seven children.
AJRAm J Roentgenol 1996;166:641–645
Sandhu F, Dillon W. MR demonstration of leucoencephalopathyassociated with mitochondrial
encephalomyopathy: case report.
AJNR Am J Neuroradiol 1991;12:375–379
Hirano M, Ricci E, Koenigsberger M, et al. MELAS: an originalcase and clinical criteria for
diagnosis. Neuromusc Disord 1992;2:125–135
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