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Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute treatment of stroke-like episodes remains controversial. We used the modified Delphi process to harness the clinical expertise of a group of mitochondrial disease specialists from five European countries to produce consensus guidance for the acute management of stroke-like episodes and commonly associated complications. Consensus on a new definition of mitochondrial stroke-like episodes was achieved and enabled the group to develop diagnostic criteria based on clinical features, neuroimaging and/or electroencephalogram findings. Guidelines for the management of strokelike episodes were agreed with aggressive seizure management strongly recommended at the outset of stroke-like episodes. Our consensus statement defines stroke-like episodes in terms of an epileptic encephalopathy and we have used this to revise both diagnostic criteria and guidelines for management. A prospective, multi-centre, randomised controlled trial is required for evaluating the efficacy of any compound on modifying the trajectory of stroke-like episodes.
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http://dx.doi.org/10.12688/wellcomeopenres.15599.1 | DOI Listing |
Front Pediatr
August 2025
Department of Ophthalmology, Peking University People's Hospital, Beijing, China.
Background: The m.3243A>G mutation in the MT-TL1 gene is the most common mtDNA mutation. The mutation can lead to a spectrum of conditions, including diabetes, hearing loss, heart and muscle involvement, encephalopathy and epilepsy, gastrointestinal problems, and vision impairment, often occurring concurrently-collectively referred to as MELAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes) syndrome.
View Article and Find Full Text PDFJ Clin Neuromuscul Dis
September 2025
Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; and.
Objectives: X-linked Charcot-Marie-Tooth disease Type 1 (CMTX1), caused by gap junction beta-1 (GJB1) mutations, is the second most common form of CMT. Patients present with length-dependent sensorimotor polyneuropathy and split hand syndrome. Males are more severely affected; females show variable symptoms because of skewed X-inactivation.
View Article and Find Full Text PDFAnn Med Surg (Lond)
September 2025
Department of Pediatrics, Faculty of Medicine, University of Aleppo, Aleppo University Hospital (AUH), Aleppo, Syria.
Introduction And Importance: To document a rare case of Sturge-Weber syndrome (SWS) Type I with acute neurological symptoms.
Case Presentation: An 11-year-old boy, previously diagnosed with Sturge-Weber syndrome (SWS) Type I, presented to the emergency department with acute neurological symptoms that included vomiting, headaches, left-sided hemiparesis, and right-sided deviation of the labial commissure.
Clinical Discussion: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by facial port-wine stains, leptomeningeal angiomas, and ocular involvement.
Int J Ophthalmol
September 2025
Department of Ophthalmology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
The phenotypes of the adenine-to-guanine transition at position 3243 of mitochondrial DNA (m.3243A>G) are highly variable, with different symptoms observed in different patients. These include mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); maternally inherited diabetes and deafness syndrome (MIDD); other syndromic conditions; or non-syndromic mitochondrial disorders.
View Article and Find Full Text PDFIndian J Pediatr
August 2025
Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, 342005, Rajasthan, India.