Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode with m.3243A>G variant involving the cerebellum and basal ganglia

  • Chungmo Koo (Department of Pediatrics, Dankook University College of Medicine) ;
  • Jaejin Yang (Department of Pediatrics, Dankook University College of Medicine) ;
  • Jeong Rye Kim (Department of Radiology, Dankook University College of Medicine) ;
  • Jeesuk Yu (Department of Pediatrics, Dankook University College of Medicine)
  • Received : 2024.01.21
  • Accepted : 2024.05.26
  • Published : 2024.06.30
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Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a maternally inherited mitochondrial disorder that usually affects the cerebral cortex and prevents high-energy demands from being met. Herein, we present the case of a male patient who rapidly developed multiple seizures, headaches, and altered mentality accompanied by severe metabolic acidosis and lactic acidosis. Initially, a brain imaging study confirmed stroke-like lesions (SLLs) only in the cerebellum. During follow-up, newly developed SLLs with lactic acidosis were observed in the basal ganglia (BG), cerebellum, and occipital lobe. The m.3243A>G variant had been found in the patient and MELAS was diagnosed, despite the BG and cerebellum being atypical locations for SLLs in MELAS. Since most cases of m.3243A>G variant MELAS show SLLs in the cerebral cortex, this case is unusual considering the location of the lesion. We emphasize that in the case of lactic acidosis accompanied by neurological symptoms, such as seizures, as in this case, MELAS should be included in the differential diagnosis, even if SLLs are observed in areas other than the cerebral cortex.

Keywords

Acknowledgement

The authors are grateful to all staff members and doctors who were involved in the patient care.

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