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

TL;DR

A rare mitochondrial disorder case is reported, highlighting the difficulty in diagnosing mitochondrial encephalomyopathy due to its complex and varied symptoms.

Contribution

This is the first documented case combining the m.10158T>C mutation with a large mtDNA deletion.

Findings

The case involved a 52-year-old woman with a novel genotypic combination of m.10158T>C and a 12.8-kb mtDNA deletion.

Definitive diagnosis required integrated genetic, histopathological, and neuroimaging evaluation.

The case emphasizes the need to differentiate mitochondrial disorders from neurological mimics like encephalitis and stroke.

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.

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