Cerebral arterial and venous MRI abnormalities in MELAS

Renard, Dimitri; Ion, Ioana

doi:10.1007/s13760-017-0867-7

Cited by 5 publications

(5 citation statements)

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“…MRA has not been routinely performed in MELAS in the past, because major cerebral vessels were considered to be the target of mitochondrial metabolism defects in these patients. However, more and more studies have found major cerebral vessels dilation ( 39 , 44 , 45 ) or stenosis ( 46 , 47 ) on MRA in MELAS in the acute and chronic stages of the disease. Gramegna et al ( 48 ) found that the proportion of cerebral major vessels dilation and stenosis was 40 and 19%, respectively, on MRA, and the middle cerebral artery was the most commonly involved.…”

Section: Funtional Mri Findingsmentioning

confidence: 99%

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

Cheng

Zhang

2022

Front. Neurol.

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Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) responsible for the wide spectrum of clinical symptoms and imaging findings. Neurological manifestations can present with stroke-like episodes (the cardinal features of MELAS), epilepsy, cognitive and mental disorders, or recurrent headaches. Magnetic resonance imaging (MRI) is an important tool for detecting stroke-like lesions, accurate recognition of imaging findings is important in guiding clinical decision making in MELAS patients. With the development of neuroimaging technologies, MRI plays an increasingly important role in course monitoring and efficacy assessment of the disease. In this article, we provide an overview of the neuroimaging features and the application of novel MRI techniques in MELAS syndrome.

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Section: Funtional Mri Findingsmentioning

confidence: 99%

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

Cheng

Zhang

2022

Front. Neurol.

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“…Brain MRI in the patient indicated a corresponding abnormal linear signals in the cerebral hemisphere cortex on the opposite side of the hemiplegic limb. MELAS patients show gyri‐like patchy signals that are randomly distributed and not assigned according to vascular territory (Kraya et al, 2019; Renard & Ion, 2020; Sinnecker et al, 2019). The lesions in this patient and MELAS patients are mainly located in the temporoparietal lobe and mainly invaded the cortex (Ikawa et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Zhang

Qiu

et al. 2023

Molec Gen & Gen Med

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Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we present a novel heterozygous ATP1A2 variant in a girl with alternating hemiplegia, febrile seizures, developmental delay (which subsequently subsided), and MELAS‐like syndrome (as indicated by brain MRI). The patient did not experience migraine with aura. Methods The patient was an 8‐year‐old girl with normal growth and development. Beginning from the age of 3 years and 8 months, the patient experienced several episodes of alternating limb paralysis. The episodes were accompanied by the appearance of MELAS‐like findings on brain MRI, which corresponded to the hemiplegia. There were abnormal linear signals in the cerebral cortex on the opposite side of the hemiplegic limb. Each time the patient recovered from hemiplegia, and each time MRI showed no lesions remained after recovery. No obvious abnormality was found in other examinations. Finally, the patient underwent whole‐exome sequencing (WES). Results WES revealed a novel and de novo heterozygous variant in the ATP1A2 (NM_000702.3) c.335C>A:p.Ala112Asp (not previously reported). We examined the variant position in the 3D protein structure and found that a missense mutation at this site is a nonconservative substitution. The variation is nonpolymorphic. It occurs at a very low frequency in the population, and its ACMG classification is likely pathogenic. Conclusion At present, there are limited reports of mutations in the ATP1A2 gene causing AHC. This is the first case of brain MRI showing MELAS‐like imaging in an AHC patient, and more cases are needed for verification. Early genetic testing and family screening can aid in the diagnosis and treatment of genetic diseases. The relationship between ATP1A2 gene mutation genotype and clinical phenotype needs to be further studied.

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“…Negative: N = 4; n = 4 3 mo after discharge, symptom decline preceding death (N = 1; n = 1) 13 1 d after treatment, symptoms deteriorated (N = 1; n = 1) 17 AEDs administered to control NCSE (N = 2; n = 2) 14,15 NA Negative: N = 1; n = 1, developed refractory seizures and PIS 16 No response: N = 6 (67%); n = 7 (41%) within 24 h of end of treatment Unclear: N = 6/10 patient had 0 ictuses assessed by MRI 11 NA N/R: (N = 10; n = 14) 14,18,25,35,39,40,42,45 NA N/R: N = 4; n = 4 16,21,23,34 Abbreviations: AED = antiepileptic drug; DWI = diffusion-weighted imaging; FLAIR = fluid-attenuated inversion recovery; MRS = magnetic resonance spectroscopy; n = number of stroke-like episodes; N = number of patients; N/R = not reported; NA = not applicable; NAA/Cho = N-acetylaspartate/choline; NSCE = nonconvulsive status epilepticus; PIS = propofol infusion syndrome; rCBF = regional cerebral blood flow.…”

Section: Clinical Responsementioning

confidence: 99%

“…,45 NA Unclear (N = 1; n = 1)23 Unclear: N = 2; n = 2 N/R: N = 2; n = 235 NA N/R: N = 1; n = 134 NANeuroimagingPositive: N = 5; n = 5 Lactate and ↑ NAA/Cho at 3 d (MRS) and ↓ FLAIR signal (MRI) 8 d (N = 1; n = 1)44 ;↓ lactate at 36 h (N = 1; n = 1)43 MRI high-intensity signal normalized at 1 wk (N = 2; n = 2)41 Improvements in MRS, timing not clear (N = 1; n = 1)12 Positive: At 30 min, uptake in the decreased rCBF in the ischemic region improved (SPECT)10 NA MRI was not used in the evaluation of response to IV L-arginine Some improvements: N = 5; n = 6 Partial resolution after 3 d (N = 1; n = 1, 1st episode N/R)24 ; 1 mo (N = 1; n = 1)15 ; timing unclear (N = 1; n = 1)22 ; most of the abnormal MRI signals disappeared at 38 d (N = 1; n = 1, 1st episode N/R)26 No change in lesion but ↓ peak lactate (N = 1; n = 2)37 NA NANegative: N = 3; n = 3 3 mo after discharge, new episode (MRI); ↑ atrophy (FLAIR) (N = 1; n = 1)13 6 d, lesions further expanded (DWI) (N = 1; n = 1)17 MRI at 4 mo after admission: diffuse brain atrophy (N = 1; n = 1)36 NA NA Unclear: N = 2; n = 2 MRS (lactate and NAA signal) improved compared with previous episode27 ↓Blood vessel dilation and hyperperfusion (MRI, CT) 13 d (N = 1; n = 1)38 …”

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confidence: 99%

l -Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

Stefanetti

Errington

et al. 2022

Neurology

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Objective:Stroke management in the context of primary mitochondrial disease is clinically challenging and the best treatment options for patients with stroke-like episodes remain uncertain. We sought to perform a systematic review on the safety and efficacy of L-arginine use in the acute and prophylactic management of stroke-like episodes in patients with mitochondrial disease.Methods:The systematic review was registered in PROSPERO (CRD42020181230). We searched six databases from inception − 15/01/2021: MEDLINE, Embase, Scopus, Web of Science, CINAHL and ClinicalTrials.gov. Original articles and registered trials available, in English, reporting L-arginine use in the acute or prophylactic management of stroke-like episodes in patients with genetically confirmed mitochondrial disease were eligible for inclusion.Data on safety and treatment response were extracted and summarized by multiple observers. Risk of bias was assessed by the methodological quality of case reports, case series and a risk-of-bias checklist for non-randomized studies. Quality of evidence was synthesized using the Oxford Centre for Evidence-Based Medicine Levels of Evidence and Grade of Recommendations. The predetermined main outcome measures were clinical response to L-arginine treatment, adverse events, withdrawals, and deaths (on treatment and/or during follow up), as defined by the author.Results:Thirty-seven articles met inclusion [0=randomised controlled trials (RCTs); 3 open-label; 1 retrospective cohort; 33 case reports/case series] (N = 91 patients; 86% m.3243A>G). In the case reports, 54% of patients reported a positive clinical response to acute L-arginine, of which 40% were concomitantly treated with AEDs. Improved headache at 24-hours was the greatest reported benefit in response to IV L-arginine in the open-label trials (31/39, 79%). Of 15/48 patients (31%) who positively responded to prophylactic L-arginine, AEDs were either used (7/15) or unreported (8/15). Moderate adverse events were reported in the follow-up of both IV and oral L-arginine treatment and 11 patients (12%) died during follow up or while on prophylactic treatment.Conclusion:The available evidence is of poor methodological quality and classified as Level 5. IV and/or oral L-arginine confers no demonstrable clinical benefit in either the acute or prophylactic treatment of MELAS, with more robust controlled trials required to assess its efficacy and safety profile.

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Cerebral arterial and venous MRI abnormalities in MELAS

Cited by 5 publications

References 2 publications

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

l -Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

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