Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review.

Yashi Liao, Yaxin Lai, Xinxin Chen, Shanshan Zhao

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Review in BMC neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors.

Yashi LiaoDepartment of Neurology, Key Laboratory of Neurological Disease Big Data of Liaoning Province, Shenyang Clinical Medical Research Center for Difficult and Serious Diseases of the Nervous System, the First Affiliated Hospital of China Medical University, Number 155, Nanjing Street, Heping District, Shenyang City, 110001, Liaoning Province, China.

Yaxin LaiDepartment of Endocrinology and Metabolism, Institute of Endocrinology, Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, National Health Council (NHC), the First Affiliated Hospital of China Medical University, Number 155, Nanjing Street, Heping District, Shenyang City, 110001, Liaoning Province, China.

Xinxin ChenDepartment of Neurology, Key Laboratory of Neurological Disease Big Data of Liaoning Province, Shenyang Clinical Medical Research Center for Difficult and Serious Diseases of the Nervous System, the First Affiliated Hospital of China Medical University, Number 155, Nanjing Street, Heping District, Shenyang City, 110001, Liaoning Province, China.

Shanshan ZhaoDepartment of Neurology, Key Laboratory of Neurological Disease Big Data of Liaoning Province, Shenyang Clinical Medical Research Center for Difficult and Serious Diseases of the Nervous System, the First Affiliated Hospital of China Medical University, Number 155, Nanjing Street, Heping District, Shenyang City, 110001, Liaoning Province, China. coral826@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLeigh syndrome (LS) is an inherited form of mitochondrial encephalopathy associated with various gene mutations of the oxidative phosphorylation system, typically occurring in infancy or early childhood and resulting in disability or even death. However, few late-onset cases have been reported.

objectiveThe objective of this case report was to investigate the radiological and clinical characteristics of an adult patient diagnosed with Leigh syndrome. CASE PRESENTATION: This article describes a patient who presented with recurrent generalized seizures, peripheral neuropathy and hypertension and was ultimately diagnosed with Leigh syndrome with a mitochondrial gene variant, c.9176T > C (p.Leu217Pro), in 20,315 of the MT-ATP6 gene. Here, we discuss the possible pathogenesis of its clinical manifestations according to the related literature and review the current therapeutic approaches and prognosis of LS.

conclusionA possible diagnosis of LS should be taken into consideration when patients with characteristic neuroimaging findings of LS demonstrate recurrent seizures, peripheral neuropathy, or hypertension, and genetic analysis should be carried out for differential diagnosis.

Indexed as

Leigh DiseaseMitochondrial Proton-Translocating ATPasesMutationPeripheral Nervous System DiseasesSeizuresAdultHumansRecurrenceMitochondrial Proton-Translocating ATPasesMT-ATP6 protein, humanBasal gangliaHypertensionLeigh syndromeMitochondrial diseasesMT-ATP6 genePeripheral neuropathyRecurrent seizure

Identifiers

PMID40140764

DOI10.1186/s12883-025-04135-2

PMCPMC11938598

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