MELAS and macroangiopathy

Sun, Xiangrong; Jiang, Guohui; Ju, X.; Fu, Hongmei

doi:10.1097/md.0000000000013866

Cited by 15 publications

(8 citation statements)

References 12 publications

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“…Positive: N = 7, N = 6 on AEDs Remained free of attacks except when treatment was stopped on 2 occasions during which she had recurrent cerebral metabolic attacks (N = 1) 23 Prevented further stroke-like episodes (N = 5) 12,22,25,45,46 No stroke-like episodes and his visual field defect improved. Occasional seizures but less than before (N = 1) 48 Positive: N = 6 Frequency and severity of stroke-like episodes (score based on symptoms) decreased after 18 mo 4…”

Section: Clinical Responsementioning

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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Section: Clinical Responsementioning

confidence: 99%

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

Stefanetti

Errington

et al. 2022

Neurology

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“…Several patients with an MID have been reported in whom ASCL was one among other clinical manifestations. In a 38-year-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome due to the variant m.3243A>G in tRNA(Leu), magnetic resonance angiography (MRA) and digital subtraction angiography revealed a distal stenosis of the right internal carotid artery (ICA) and sparse cortical vessels in the absence of any classical risk factor [2]. Additionally, this patient had migraine since age 18 years, hearing impairment, and recurrent stroke-like episodes (SLEs) [2].…”

Section: Primary Mitochondrial Asclmentioning

confidence: 99%

“…The patient was initially put on aspirin and statins but did not improve. On the contrary, he profited from coenzyme-Q (CoQ), L-arginine, vitamin-C, and valproic acid [2]. In another case report, a 58-year-old female with a sixyear history of cognitive decline was diagnosed with early-onset, subcortical, ischemic, vascular dementia in the absence of any classical risk factors for ASCL [3].…”

Section: Primary Mitochondrial Asclmentioning

confidence: 99%

“…In a Chinese study of patients with mitochondrial encephalomyopathy, ICA stenosis was found in two patients and posterior cerebral artery (PCA) stenosis in one patient. Unfortunately, the study is not accessible via established databanks and only cited in a study by Sun et al (2018) [2]. In a nine-year-old male with MELAS due to the variant m.3243A>G in tRNA (Leu), MRA revealed a segmental narrowing in the crural segment of the right PCA with good distal runoff [6].…”

Section: Primary Mitochondrial Asclmentioning

confidence: 99%

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Atherosclerosis Can Be Mitochondrial: A Review

Finsterer

2020

Cureus

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One of the systems that are potentially affected in mitochondrial disorders, but hardly get systematically investigated, are the arteries. One of the phenotypic manifestations in arteries is atherosclerosis. This review focuses on the current knowledge and recent advances of mitochondrial atherosclerosis. We conducted a systematic literature review via PubMed using appropriate search terms. Atherosclerosis in mitochondrial disorders may result from a primary pathomechanism or a secondary one due to mitochondrial diabetes, arterial hypertension, or hyperlipidemia. Anecdotal reports show that primary atherosclerosis can be a phenotypic feature of mitochondrial disorders. Predominantly, patients carrying mutations in mtDNA-located genes may develop primary mitochondrial atherosclerosis. Though not systematically investigated, it is conceivable that primary mitochondrial atherosclerosis results from increased oxidative stress, mitophagy, metabolic breakdown, or lactic acidosis. Mitochondrial disorder patients with primary mitochondrial atherosclerosis should receive not only antithrombotic medication but also antioxidants and cofactors. Atherosclerosis in mitochondrial disorders may occur even in the absence of classical atherosclerosis risk factors, suggesting that atherosclerosis can be a primary manifestation of the metabolic defect. Though primary atherosclerosis in mitochondrial disorders has not been systematically investigated, anecdotal data indicate that mitochondrial dysfunction can be a mechanism for the development of primary, mitochondrial atherosclerosis. These patients require antioxidants and cofactors in addition to antithrombotic medication.

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“…Patients generally have short stature and low intelligence. [ 1 , 2 ] In the past, it was believed that most hereditary white matter lesions were lysosome storage disorders or peroxisome diseases. However, in recent years, white matter lesions have been increasingly regarded as a common feature of patients with mitochondrial diseases.…”

Section: Introductionmentioning

confidence: 99%

Diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes: A case report

et al. 2023

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Rationale: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is the most common subtype of mitochondrial encephalopathy. In the past, it was believed that most hereditary white matter lesions were lysosome storage disorders or peroxisome diseases. However, in recent years, white matter lesions have been increasingly regarded as a common feature of patients with mitochondrial diseases. In addition to stroke-like lesions, about half of the patients with MELAS reported white matter lesions in the brain. Patient concerns: Herein, we provide a case of A 48-year-old female who presented with episodic loss of consciousness with twitching of extremities. Previous medical history revealed 10 years of history of epilepsy, 10 years of history of diabetes, a history of hearing loss, and unknown etiology. Ancillary findings included brain magnetic fluid-attenuated inversion recovery showed symmetrical lesions in the bilateral parietal lobe with high signal intensity at the edge, and high signal intensity in the bilateral occipital lobe, paraventricular white matter, corona radiata, and the center of semiovale. Diagnoses: Mitochondrial deoxyribonucleic acid gene sequencing returned A3243G point mutation and it supports the diagnosis of intracranial hypertension. Interventions: Considered the diagnosis of symptomatic epilepsy, the patient was treated with mechanical ventilation, midazolam, and levetiracetam, and the limb twitching symptoms were controlled. The patient was comatose, chronically bedridden, with gastrointestinal dysfunction, and was treated prophylactically with antibiotics against infection, parenteral nutrition, and other supportive measures. B vitamins, vitamin C, vitamin E, coenzyme Q10, and idebenone were given, and mechanical ventilation and midazolam were stopped after 8 days. He was discharged from the hospital on 30 days and continued symptomatic treatment with B-vitamins, vitamin C, vitamin E, coenzyme Q10, and idebenone, and antiepileptic treatment with levetiracetam, with outpatient follow-up. Outcomes: No further seizures were recorded and the patient recovered well. Lessons: MELAS syndrome without stroke-like episodes of diffuse posterior cerebral white matter lesions is rare in clinical practice, and the possibility of MELAS syndrome should be considered in symmetric posterior cerebral white matter lesions.

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MELAS and macroangiopathy

Cited by 15 publications

References 12 publications

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

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

Atherosclerosis Can Be Mitochondrial: A Review

Diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes: A case report

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