Journal
GENES
Volume 12, Issue 10, Pages -Publisher
MDPI
DOI: 10.3390/genes12101643
Keywords
primary mitochondrial diseases; MELAS; stroke-like episodes; brain MRI; mitochondrial DNA
Categories
Funding
- Department of Healths National Institute for Health Research Biomedical Research Centres funding scheme
- UK National Health Service (NHS)
- Clore Duffield Foundation grant
- Medical Research Council (UK) Clinician Scientist Fellowship [MR/S002065/1]
- Medical Research Council (UK) strategic award [MR/S005021/1]
- MRC [MR/S005021/1, MR/S002065/1] Funding Source: UKRI
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Diagnosis of MELAS is crucial for affected individuals and their relatives as it allows early initiation of appropriate treatment and genetic counseling, but is often challenging, especially during the acute phase of an event.
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.
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