Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation

Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a matrilineal hereditary multi-system disease due to mutations of mitochondrial DNA. Though the initial diagnostic criteria prevail till nowadays, which take a range of clinical phenotypes into consideration including clinical onset after the age of 40, a confirmative diagnostic standard for MELAS is still needed.Case presentation: A 71-year-old female patient presented with recurrent stroke to our hospital. Magnetic resonance imaging showed a cerebral gyrus-like area with hyperintensity in the parietal-occipital lobe on DWI and this area expanded with disease progression. The Lac/Lip peaks were significantly inverted in the MRS imaging. Nucleic acid sequencing showed a MT-TWm.5541C>T mutation, and the mutation rate of the blood sample was 12.86%. The patient had a 6-year history of type 2 diabetes. The patient experienced recurrent stroke and was given coenzyme Q10 capsules and idebenone tablets to improve metabolism, vitamin B to nourish nerves, edaravone to scavenge oxygen free radicals, and oxcarbazepine to manage seizures. At 1-month follow-up, her condition was stable.Conclusion: Patients with MELAS syndrome have complex clinical manifestations. Our data demonstrated that, for patients with atypical cerebral infarction and suspected MELAS syndrome, gene sequencing and muscle biopsy should be completed in time, which may serve as a reference for the diagnostic criteria of MELAS syndrome.

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS)syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.

Pearls & Oy-sters: Symmetric Numbness and Paresthesia Due to Stroke-like Episode in an Adolescent Male With MELAS

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a mitochondrial condition with a wide range of neurologic complications including migraines, seizures, and stroke-like episodes. This case report highlights a rare presentation of bilateral sensory changes related to MELAS and offers an opportunity to consider how a differential diagnosis may need to be modified in patients with underlying mitochondrial disorders. Neurologic symptoms in MELAS may defy classic localization patterns, and early neuroimaging is warranted.

Targeted Temperature Management of Severe Lactic Acidosis in a Patient with MELAS Syndrome after Cardiac Arrest

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is known as a maternally inherited mitochondrial disease with a m.3243A>G mutation in the MT-TL1 gene. Here, we report a case of targeted temperature management in a MELAS patient who had a cardiac arrest and severe lactic acidosis after recurrent seizures.