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• W2210040211 abstract "In their comprehensive Review,1Fugate JE Rabinstein AA Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions.Lancet Neurol. 2015; 14: 914-925Summary Full Text Full Text PDF PubMed Scopus (585) Google Scholar Jennifer Fugate and Alejandro Rabinstein discuss how posterior reversible encephalopathy syndrome (PRES) is sometimes inappropriately regarded as a radiological diagnosis and rightly emphasise the importance of correlating clinical history in the diagnostic process.1Fugate JE Rabinstein AA Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions.Lancet Neurol. 2015; 14: 914-925Summary Full Text Full Text PDF PubMed Scopus (585) Google Scholar However, we believe that an important differential diagnosis has been omitted. Mitochondrial disorders are among the most common forms of inherited neurological disease and present with a frequency of 1:4300 in the adult population.2Gorman GS Schaefer AM Ng Y et al.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Ann Neurol. 2015; 77: 753-759Crossref PubMed Scopus (525) Google Scholar The acute neurological symptoms associated with PRES are frequently non-specific, including seizures, encephalopathy, headache, and visual disturbances.1Fugate JE Rabinstein AA Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions.Lancet Neurol. 2015; 14: 914-925Summary Full Text Full Text PDF PubMed Scopus (585) Google Scholar These symptoms also characterise stroke-like episodes associated with mitochondrial disease, often recognised in the context of the mitochondrial DNA mutation 3243A→G or mutations in the nuclear POLG gene.3Mancuso M Orsucci D Angelini C et al.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?.J Neurol. 2014; 261: 504-510Crossref PubMed Scopus (97) Google Scholar, 4Engelsen BA Tzoulis C Karlsen B et al.POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.Brain. 2008; 131: 818-828Crossref PubMed Scopus (140) Google Scholar In our clinical experience of a cohort of 37 patients harbouring the 3243A→G mutation and presenting with stroke-like episodes, PRES was frequently the initial working diagnosis before consideration of a mitochondrial disorder. Although hypertension frequently accompanies PRES, studies5Rabinstein AA Mandrekar J Merrell R Kozak OS Durosaro O Fugate JE Blood pressure fluctuations in posterior reversible encephalopathy syndrome.J Stroke Cerebrovasc Dis. 2012; 21: 254-258Summary Full Text Full Text PDF PubMed Scopus (75) Google Scholar suggest that 15–20% of patients with PRES are in fact normotensive or even hypotensive. Moreover, PRES is suggested to be recurrent in 5–10% of cases.1Fugate JE Rabinstein AA Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions.Lancet Neurol. 2015; 14: 914-925Summary Full Text Full Text PDF PubMed Scopus (585) Google Scholar Particularly in the absence of the known predisposing conditions for PRES, such as an autoimmune disorder, immunosuppressive or cytotoxic drug treatment, or eclampsia, both normotension and recurrent episodes together with neurological and radiological features suggestive of PRES warrant consideration of a possible underlying mitochondrial disorder. Importantly, the brain MRI abnormalities associated with PRES can be very similar to those encountered in patients with mitochondrial stroke-like episodes. We wish to point out that in patients presenting acutely with any combination of seizures, encephalopathy, headache, and visual disturbances, particularly when brain MRI reveals features suggestive of PRES, the possibility of a mitochondrial disorder should be considered. Useful clinical pointers to discern mitochondrial disease from PRES include: the presence of seemingly unrelated multisystem diseases such as bilateral sensorineural hearing loss, diabetes mellitus, cardiomyopathy, and gut dysmotility, which are common in 3243A→G mutation carriers; the presence of cerebellar ataxia or axonal polyneuropathy, which are suggestive of POLG-associated mitochondrial disease; and in the case of mitochondrial disease caused by mutations in mitochondrial DNA, a detailed family history might reveal features compatible with a maternal inheritance pattern. Genetic testing for the 3243A→G mutation and the common POLG mutations are at present non-invasive, inexpensive, and readily available.6McFarland R Taylor RW Turnbull DM A neurological perspective on mitochondrial disease.Lancet Neurol. 2010; 9: 829-840Summary Full Text Full Text PDF PubMed Scopus (219) Google Scholar Moreover, establishment of a diagnosis of mitochondrial disease mimicking PRES has important practical implications, not only from a prognostic perspective, but also in relation to therapeutic strategies (such as avoidance of sodium valproate in POLG-related mitochondrial disease due to the associated risk of fulminant hepatic failure) and the need for detailed family tracing of at-risk individuals. We declare no competing interests. Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questionsAlmost two decades have elapsed since posterior reversible encephalopathy syndrome (PRES) was described in an influential case series. This usually reversible clinical syndrome is becoming increasingly recognised, in large part because of improved and more readily available brain imaging. Although the pathophysiological changes underlying PRES are not fully understood, endothelial dysfunction is a key factor. A diagnosis of PRES should be considered in the setting of acute neurological symptoms in patients with renal failure, blood pressure fluctuations, use of cytotoxic drugs, autoimmune disorders, or eclampsia. Full-Text PDF The diagnosis of posterior reversible encephalopathy syndrome – Authors' replyWe thank Yi Shiau Ng and colleagues for their insightful comments about our Review.1 We agree that mitochondrial disease should be considered in the differential diagnosis of some cases of possible posterior reversible encephalopathy syndrome (PRES) and that it is imperative to correlate clinical history with radiographic findings. As they point out, mitochondrial disorders are rare, but clinical features that might point towards their diagnosis include bilateral hearing loss, axonal polyneuropathy, and positive family history (all absent in PRES). Full-Text PDF" @default.
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• W2210040211 title "The diagnosis of posterior reversible encephalopathy syndrome" @default.
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