Korean J Cerebrovasc Surg.  2005 Dec;7(4):329-332.

MELAS Syndrome Presenting as Occipital Brain Infarct: Case Report

Affiliations
  • 1Department of Neurosurgery, Pundang CHA Hospital, College of Medicine, Pochon CHA University, Seongnam, Korea. jyahn@cha.ac.kr
  • 2Department of Neurology, Pundang CHA Hospital, College of Medicine, Pochon CHA University, Seongnam, Korea.

Abstract

MELAS syndrome is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. A 14-year-old male presented with symptoms that resemble stroke including headache, seizure, visual disturbance and slight left hemiparesis. Laboratory investigation showed elevated lactate level in the blood. Brain computed tomography and magnetic resonance image revealed acute infarction in the right occipitoparietal lobe, which was not restricted to a specific vascular territory. Magnetic resonance spectroscopy showed decreased N-acetyl aspartate and increased lactate level in the affected lobe. A molecular genetic analysis identified A3243G point mutation in the peripheral blood leukocytes and confirmed MELAS syndrome. We describe clinical, radiological and molecular genetic findings in the patient with MELAS syndrome presenting occipital brain infarct.

Keyword

MELAS syndrome; A3243G; Mitochondrial DNA mutation

MeSH Terms

Acidosis, Lactic
Adolescent
Aspartic Acid
Brain*
Headache
Humans
Infarction
Lactic Acid
Leukocytes
Magnetic Resonance Spectroscopy
Male
MELAS Syndrome*
Mitochondrial Myopathies
Molecular Biology
Paresis
Point Mutation
Seizures
Stroke
Aspartic Acid
Lactic Acid
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