Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Genes

William L. Macken¹  Michael G. Hanna¹  Chiara Pizzamiglio¹  Robert D. S. Pitceathly¹  Enrico Bugiardini¹  Cathy E. Woodward² 

[1] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK;Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BH, UK;

关键词: primary mitochondrial diseases;    MELAS;    stroke-like episodes;    brain MRI;    mitochondrial DNA;   

DOI  :  10.3390/genes12101643

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown