ReviewMolecular genetics & genomic medicine2022
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.
Review in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.Kidney research and clinical practice · 2026Article
- From confusion to diagnosis: a rare case of melas syndrome in a patient with familial consanguinity, recurrent stroke-like episodes, and concurrent FSGS.BMC neurology · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- A review of the link between the lactate-GPR81 axis and mitochondrial angiopathy in MELAS based on imaging characteristics.Journal of neurology · 2025Review
- Neuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis with Stroke-Like Episodes (MELAS).Indian journal of pediatrics · 2025Article
- Article
- Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.JCEM case reports · 2025Article
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.Journal of neurology · 2025Article
- Review
- Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.Annals of clinical and translational neurology · 2025Article
- Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation.Frontiers in pediatrics · 2025Article
- Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.Biomolecules · 2024Review
- Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.International journal of molecular sciences · 2024Review
- Mitochondrial Chronic Progressive External Ophthalmoplegia.Brain sciences · 2024Review
- Remarks on Mitochondrial Myopathies.International journal of molecular sciences · 2022Review
- Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.Molecular genetics & genomic medicine · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most well-known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two decades of life with a broad, multi-systemic phenotype that predominantly features neurological manifestations--stroke-like episodes. However, marked phenotypic variability has been observed among paediatric patients, creating a clinical challenge and delaying diagnoses.
methodsA literature review of paediatric MELAS syndrome patients and a retrospective analysis in a UK tertiary paediatric neurology centre were performed.
resultsThree children were included in this case series. All patients presented with seizures and had MRI changes not confined to a single vascular territory. Blood heteroplasmy varied considerably, and one patient required a muscle biopsy. Based on a literature review of 114 patients, the mean age of presentation is 8.1 years and seizures are the most prevalent manifestation of stroke-like episodes. Heteroplasmy is higher in a tissue other than blood in most cases.
conclusionThe threshold for investigating MELAS syndrome in children with suspicious neurological symptoms should be low. If blood m.3243A>G analysis is negative, yet clinical suspicion remains high, invasive testing or further interrogation of the mitochondrial genome should be considered.
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