Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.
Mol Genet Genomic Med
MetadataShow full item record
Seed, L., Dean, A., Krishnakumar, D., Phyu, P., Horvath, R., & Harijan, P. D. (2022). Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.. Mol Genet Genomic Med https://doi.org/10.1002/mgg3.1955
Funder: Addenbrooke’s Charitable Trust, Cambridge University Hospitals; Id: http://dx.doi.org/10.13039/501100002927
Funder: European Research Council; Id: http://dx.doi.org/10.13039/100010663
Funder: Evelyn Trust; Id: http://dx.doi.org/10.13039/501100004282
Funder: Medical Research Council; Id: http://dx.doi.org/10.13039/501100007155
Funder: Newton Fund; Id: http://dx.doi.org/10.13039/100010897
Funder: the Lily Foundation
Funder: The Stoneygate Trust
Funder: Wellcome Trust; Id: http://dx.doi.org/10.13039/100010269
BACKGROUND: Mitochondrial 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. METHODS: A literature review of paediatric MELAS syndrome patients and a retrospective analysis in a UK tertiary paediatric neurology centre were performed. RESULTS: Three 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. CONCLUSION: The 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.
ORIGINAL ARTICLE, ORIGINAL ARTICLES, encephalopathy, genetics, lactic acidosis, m.3243A>G, MELAS syndrome, mitochondrial disease, paediatric neurology, stroke‐like episodes
External DOI: https://doi.org/10.1002/mgg3.1955
This record's URL: https://www.repository.cam.ac.uk/handle/1810/336500