Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review
Abstract
Mitochondrial encephalomyopathy is a complex disorder with heterogeneous clinical manifestations that often complicate its clinical diagnosis. We report the first documented case of a 52-year-old woman harboring a novel and rare genotypic combination: the m.10158T>C point mutation together with a 12.8-kb large-scale mtDNA deletion. After a protracted diagnostic course involving multiple prior misdiagnoses, the definitive diagnosis was ultimately established through integrated genetic, histopathological, and neuroimaging evaluation. This case underscores both the diagnostic challenges in mitochondrial disorders and the critical need for systematic differentiation from common neurological mimics such as encephalitis and stroke.
Fields of Study & Subjects
Mitochondrial Function and Pathology
Neurological diseases and metabolism
Coenzyme Q10 studies and effects
Publication details
- Journal / source
- Frontiers in Integrative Neuroscience
- Publisher
- Frontiers Media SA
- Volume
- 19
- Pages
- 1709380–1709380
- Publication date
- 16 January 2026
- Language
- EN