Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting with Auditory Agnosia

Kelsey Smith, Shannon Chiu, Christopher Hunt, Adithya Chandregowda, Dusica Babovic-Vuksanovic, B Mark Keegan

Research output: Contribution to journalArticle

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Abstract

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder that usually presents in childhood. Patients can have a wide array of neurological symptoms when presenting with stroke-like episodes, and imaging characteristics during the episodes can overlap with different neurological disorders.Case Report:A 61-year-old woman presented with communication difficulties consistent with auditory agnosia and was found to have bitemporal abnormalities on imaging that first raised the concern for herpes simplex virus encephalitis. Further work-up, in conjunction with the patient's past medical and family history, suggested a mitochondrial disorder. Mitochondrial full genome analysis revealed m.3243A>G variant in the MT-TL1 gene, with 6% heteroplasmy in blood leading to a diagnosis of MELAS.Conclusions:MELAS is a disorder with clinical variability. Neuroimaging studies during stroke-like episodes in MELAS can provide significant clues to the underlying disorder. Although patients typically present in childhood, the first stroke-like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level.

Original languageEnglish (US)
Pages (from-to)90-92
Number of pages3
JournalNeurologist
Volume24
Issue number3
DOIs
StatePublished - May 1 2019

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Keywords

  • auditory agnosia
  • MELAS
  • stroke

ASJC Scopus subject areas

  • Clinical Neurology

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