Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome Mimicking Herpes Simplex Encephalitis on Imaging Studies

Gieraerts, Christopher; Demaerel, Philippe; Damme, Philip Van; Wilms, G.

doi:10.1097/rct.0b013e3182811170

Cited by 13 publications

(8 citation statements)

References 13 publications

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“…Reports of several patients with MELAS who share the syndrome and radiological manifestations of HSVE have been published [11][12][13][14][15][16], although some extended reviews of the clinical features of molecularly confirmed MELAS did not mention diagnostic confusion with HSVE [2,17]. The previously reported [11][12][13][14][15][16] and present cases share clinical characteristics such as relatively late-onset, initial involvement of the temporal lobes and insular lesions on MRI, and immediate induction of ACV. However, all of previous cases harbored a 3243A → G mutation of mtDNA (Table 1).…”

Section: Discussionmentioning

confidence: 87%

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

et al. 2020

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Background: A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. Case presentation: A 74-year-old Japanese man was admitted to another hospital due to acute onset of cognitive impairment and psychosis. After 7 days he was transferred to our hospital with seizures and deteriorating psychosis. The results of primary ancillary tests that included EEG, CSF findings, and brain MRI supported the diagnosis of an acute encephalitis. HSV-DNA and antibodies against neuronal surface antigens in the CSF were all negative. With the assistance of the lactate peak on the brain lesions in the magnetic resonance spectroscopy image and genetic analysis of the biopsied muscle, he was eventually diagnosed with MELAS syndrome harboring mtDNA 14453G → A mutation in the ND6 gene. Conclusions: This case provides a caveat that MELAS syndrome can manifest in the symptoms and ancillary tests masquerading as an acute encephalitis caused by infection or autoimmunity. This is the first adult patient seen to harbor the mtDNA14453G → A with a unique onset, which broadens the phenotypic spectrum of MELAS syndrome associated with ND6 gene mutation.

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Section: Discussionmentioning

confidence: 87%

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

et al. 2020

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“…On imaging, viral encephalitis usually involves the limbic system, such as the frontal orbital gyrus, hippocampus and temporal lobe, rather than the parietal, and temporal lobe. The diffusion restriction uninvolved the entire lesions might be an important differential diagnostic sign between them ( 55 ). Functional MRI techniques are also valuable for accurate diagnosis.…”

Section: Differential Diagnosismentioning

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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“…These two can be differentiated based on typical imaging patterns [8]. Herpes encephalitis can mimic MELAS as it typically affects both cortical and sub-cortical temporal lobes bilaterally [9]. However, the step-wise progression of the lesion is uncommon in herpes encephalitis, and lesions are typically located mesiotemporally [9].…”

Section: Discussionmentioning

confidence: 99%

“…Herpes encephalitis can mimic MELAS as it typically affects both cortical and sub-cortical temporal lobes bilaterally [9]. However, the step-wise progression of the lesion is uncommon in herpes encephalitis, and lesions are typically located mesiotemporally [9]. PRES typically shows vasogenic edema in the sub-cortical areas of the occipital and temporal lobes [10].…”

Section: Discussionmentioning

confidence: 99%

Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient

Abdullah

Shah

Husain

et al. 2020

Cureus

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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) usually manifests in early life. Clinical hallmarks of the disease are mitochondrial myopathies, encephalopathy with stroke-like episodes, seizures, and lactic acidosis. It rarely manifests in late adulthood. Here we present the case of a 63-year-old female patient who developed recurrent stroke-like symptoms with typical resolving and remitting pattern of findings on imaging. Later on, it was confirmed as a case of MELAS upon genetic analysis.

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Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome Mimicking Herpes Simplex Encephalitis on Imaging Studies

Cited by 13 publications

References 13 publications

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

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

Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient

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