Work

Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review

Year: 2026

Type: article

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.

Source: Frontiers in Integrative Neuroscience

DOI: 10.3389/fnint.2025.1709380

Authors: Zhuqing Luan, Zhigang Liang

Institutions: Qingdao University, Yuhuangding Hospital

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: $3,801