Work

From stroke workup to mitochondrial disease: A case report of MELAS

Year: 2025

Type: article

Abstract: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder that often presents with recurrent neurological deficits mimicking ischemic stroke. However, MELAS lesions characteristically violate vascular territories, a pattern that may be underrecognized in adult patients, particularly when vascular risk factors confound clinical suspicion. We present a case of a 36-year-old male with type 2 diabetes, tobacco use, and alcohol use disorder who experienced multiple recurrent stroke-like episodes involving the temporal and parietal lobes. Despite an extensive negative vascular and infectious workup, serial MRI demonstrated multifocal cortical and subcortical T2/FLAIR hyperintensities with restricted diffusion and evolving lesion patterns inconsistent with a vascular etiology. MR findings were suggestive of both cytotoxic and vasogenic edema, further supporting a metabolic cause. Genetic testing ultimately confirmed a heteroplasmic pathogenic variant in the MT-TL1 gene, consistent with MELAS. This case underscores the critical role of radiologic pattern recognition in diagnosing MELAS and the importance of distinguishing stroke-like lesions from true infarcts to guide appropriate clinical management.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2025.09.031

Authors: Yusuf Sevencan, Siddharth Rode, Ashley Park, Ilya Levin, Daniel Masri, Anna Derman

Institutions: Maimonides Medical Center, SUNY Downstate Health Sciences University

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600