MELAS syndrome with m.4450 G   >  A mutation in mitochondrial tRNAMet gene

Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudden visual disturbances and headaches accompanied by recurrent, stroke-like episodes with lactic acidosis (pH 7.279, lactic acid 11.6  mmol/L). The patient frequently developed a delirious state, exhibited regression of intellectual ability.

Source: Brain and Development - February 7, 2019 Category: Neurology Authors: Mari Kuwajima, Masahide Goto, Koyuru Kurane, Hiroko Shimbo, Narumi Omika, Eriko F. Jimbo, Kazuhiro Muramatsu, Makiko Tajika, Masaru Shimura, Kei Murayama, Kenji Kurosawa, Takanori Yamagata, Hitoshi Osaka Tags: Case Report Source Type: research