ArticleAJNR. American journal of neuroradiology2020
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution.
Article in AJNR. American journal of neuroradiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Analysis of acute stroke-like lesions in MELAS: Distribution, potential boundaries and spreading pattern.Neuroimage. Reports · 2026Article
- Melas mimicking hydrocephalus.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Cerebral vasodilation and lesion patterns in stroke-like episodes of MELAS: a quantitative angiographic investigation.Quantitative imaging in medicine and surgery · 2026Article
- Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy.Korean journal of radiology · 2026Article
- Dynamic functional connectivity changes in the triple networks in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.Quantitative imaging in medicine and surgery · 2026Article
- Imaging patterns of paediatric CNS mitochondrial disorders.Neuroradiology · 2026Review
- Diagnosis and treatment of occipital brain lesions in children.Developmental medicine and child neurology · 2025Review
- Widespread and progressive brain atrophy is a common feature in patients with mitochondrial disease.Journal of neurology · 2025Observational
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Moyamoya syndrome secondary to MELAS syndrome in a child: A case report and literature revue.Radiology case reports · 2024Article
- A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.Molecular genetics and genomics : MGG · 2024Article
- Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report.Clinical case reports · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- The functional role of Higd1a in mitochondrial homeostasis and in multiple disease processes.Genes & diseases · 2023Review
- Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS.Neurology. Genetics · 2023Article
- Comprehensive Update and Review of Clinical and Imaging Features of SMART Syndrome.AJNR. American journal of neuroradiology · 2023Review
- Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.Acta neurologica Belgica · 2023Article
- Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis: A case report.World journal of clinical cases · 2023Article
- MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.AJNR. American journal of neuroradiology · 2023Review
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
background and purposeMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder affecting children and young adults. Stroke-like episodes are often associated with acute cortical lesions in the posterior cerebral cortex and are classically described as asymmetric and transient. In this study we assessed the anatomic distribution of acute cortical lesions, the incidence of symmetry, and the temporal evolution of lesions. MATERIALS AND
methodsThis was a retrospective cohort study of patients who had a confirmed genetic diagnosis of a pathogenic variant associated with MELAS and MR imaging performed at our center (2006-2018). Each MR imaging study was assessed for new lesions using T1, T2, FLAIR, DWI, ADC, and SWI. The anatomic location, symmetry, and temporal evolution of lesions were analyzed.
resultsEight patients with the same pathogenic variant of MELAS (MT-TL1 m.3243A>G) with 31 MR imaging studies were included. Forty-one new lesions were identified in 17 of the studies (5 deep, 36 cortical). Cortical lesions most commonly affected the primary visual cortex, the middle-third of the primary somatosensory cortex, and the primary auditory cortex. Thirty of 36 cortical lesions had acute cortical diffusion restriction, of which 21 developed cortical laminar necrosis on subacute imaging. Six of 11 studies with multiple lesions showed symmetric cortical involvement.
conclusionsAcute cortical lesions in MELAS most commonly affect the primary visual, somatosensory, and auditory cortices, all regions of high neuronal density and metabolic demand. The most common pattern of temporal evolution is acute cortical diffusion restriction with subacute cortical laminar necrosis and chronic volume loss. Symmetric involvement is more common than previously described.
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