대한영상의학회지 (Nov 2020)

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report

  • Jisoo Oh,
  • Jinok Choi,
  • Soojung Kim,
  • Eun-ae Yoo

DOI
https://doi.org/10.3348/jksr.2019.0197
Journal volume & issue
Vol. 81, no. 6
pp. 1478 – 1485

Abstract

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Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life. It is a serious disease with a mortality rate of 75% in 2–3 years. The cause of Leigh syndrome is DNA mutation. Approximately 75% of patients have nuclear DNA mutations while 25% have mitochondrial DNA mutations. Clinical symptoms vary depending on the affected brain area. Neuroimaging plays an important role in diagnosing patients with Leigh syndrome. Late-onset Leigh syndrome is rarer and progresses more slowly compared to the classic form. Here, we report a case of late-onset Leigh’s syndrome mimicking Wernicke’s encephalopathy.

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