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

Acquaah, Jason; Ferdinand, Phillip; Roffe, Christine

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.

Citation

Acquaah, J., Ferdinand, P., & Roffe, C. (2024). Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge. BMJ Case Reports, 17(2), Article e256306. https://doi.org/10.1136/bcr-2023-256306

• Journal Article Type: Article
• Acceptance Date: Feb 16, 2024
• Online Publication Date: Feb 26, 2024
• Publication Date: 2024-02
• Deposit Date: Mar 20, 2024
• Journal: BMJ Case Reports
• Publisher: BMJ Publishing Group
• Peer Reviewed: Peer Reviewed
• Volume: 17
• Issue: 2
• Article Number: e256306
• DOI: https://doi.org/10.1136/bcr-2023-256306
• Keywords: General Medicine
• Public URL: https://keele-repository.worktribe.com/output/783597