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KMID : 0948320040040010065
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Konyang Medical Journal
2004 Volume.4 No. 1 p.65 ~ p.68
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A Case of Mitochondrial Encephalopathy with Lactic Acidosis and Stroke like Episodes (MELAS) Syndrome presented by Visual Hallucination
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Lee Jun-Yup
Kim Yong-Duk
Cho Yoon-Sik
Lee Ku-Eun
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Abstract
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We report a case of mitochondrial encephalopathy with lactic acidosis and stroke like episodes (MELAS) syndrome which shows typical clinical presentations and is presented by visual hallucination and psychotic symptoms. A 34-year-old right-handed man with diabetes mellitus and sensorineural hearing difficulty was thin and exhibited short stature. He presented visual hallucination, persecutory delusion, migrainous headache, generalized seizure and repeated stroke like episodes such as motor aphasia and left hemianopsia. On first admission, Brain MR T2 and diffusion weighted images showed hypersignal change lesions in left temporoparietal area, which were mainly within cortex, not confined to the vascular territory and disappeared on second admission. Level of lactic acid in serum and CSF was increased. EEG showed spike-wave complex on right temporal and occipital area. The mitochondrial DNA 3243 A to G point mutation was identified by gene analysis using direct sequencing of peripheral white blood cell. We report a case of MELAS syndrome associated with mitochondrial DNA 3243 A to G point mutation within tRNALeu(UUR) encoding gene.
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KEYWORD
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MELAS, Hallucination, Mitochondrial DNA
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