Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

ABSTRACT:

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

SUBMITTER: Seed LM 

PROVIDER: S-EPMC9266612 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature