Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge

BMJ Case Rep. 2024 Feb 26;17(2):e256306. doi: 10.1136/bcr-2023-256306.

Abstract

Rare causes of stroke-like presentations can be difficult to diagnose. We report a case of a man in his 40s who first presented with stroke symptoms, but whose clinical course was not typical for a stroke. A detailed investigation of the patient's medical history revealed bilateral sensorineural hearing loss which prompted a wider diagnostic assessment.Furthermore, lack of vascular risk factors and a normal angiogram strengthened our suspicion of an unusual underlying condition. Raised lactic acid levels and genetic analysis confirmed a diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

Keywords: Neuroimaging; Neurology; Stroke.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic* / diagnosis
  • Adult
  • Hearing Loss, Bilateral*
  • Humans
  • Lactic Acid
  • MELAS Syndrome* / complications
  • MELAS Syndrome* / diagnosis
  • MELAS Syndrome* / genetics
  • Male
  • Stroke* / diagnosis
  • Stroke* / etiology

Substances

  • Lactic Acid