Image findings in Mitochondrial encephalomyopathy, Lactic acidosis, and Stroke-like episodes (MELAS) - A rare case report
Journal: University Journal of Medicine and Medical Specialities (Vol.5, No. 6)Publication Date: 2019-09-18
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. Keyword :mitochondrial disease, lacunar infarcts, encephalomyopathy, microhemorrhages, basal ganglia calcification, lactate peak
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Last modified: 2019-09-23 16:29:31