| Title: |
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature. |
| Authors: |
Seed, Lydia M; Dean, Andrew; Krishnakumar, Deepa; Phyu, Poe; Horvath, Rita; Harijan, Pooja Devi |
| Publisher Information: |
Wiley; //doi.org/10.1002/mgg3.1955 |
| Publication Year: |
2022 |
| Collection: |
Apollo - University of Cambridge Repository |
| Subject Terms: |
MELAS syndrome; encephalopathy; genetics; lactic acidosis; m.3243A>G; mitochondrial disease; paediatric neurology; stroke-like episodes; Acidosis; Lactic; Child; Humans; Retrospective Studies; Seizures; Stroke |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text/xml; application/pdf |
| Language: |
English |
| Relation: |
mgg31955; https://www.repository.cam.ac.uk/handle/1810/336500 |
| DOI: |
10.17863/CAM.83918 |
| Availability: |
https://www.repository.cam.ac.uk/handle/1810/336500; https://doi.org/10.17863/CAM.83918 |
| Rights: |
Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.BF395E8E |
| Database: |
BASE |