Results 21 to 30 of about 5,347 (184)

Vitelliform maculopathy in MELAS syndrome. [PDF]

Am J Ophthalmol Case Rep, 2023
We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).After performing large panel next generation sequencing genetic testing, there was no likely alternative genetic etiology for vitelliform maculopathy in this patient.We present a rare case of a ...
Jahrig C, Ku CA, Marra M, Pennesi ME, Yang P.   +4 more
europepmc   +4 more sources

Epilepsy and MELAS syndrome: literature review and clinical observation

Эпилепсия и пароксизмальные состояния, 2023
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene.
А. М. Teplysheva, М. А. Glazova, R. N. Konovalov   +2 more
doaj   +3 more sources

Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman [PDF]

Frontiers in Neurology, 2022
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and other features (short stature, headaches, seizures, and sensorineural hearing loss) constitute characteristics of MELAS syndrome.
Sirisha Nouduri, Rajiv Padmanabhan, Richard Hicks, Mary-Alice Abbott, Dennis O'Brien, Gottfried Schlaug   +5 more
doaj   +3 more sources

Arrhythmias in MELAS syndrome

Molecular Genetics and Metabolism Reports, 2016
Letter to the Editor With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243A > G mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns.
Josef Finsterer, Sinda Zarrouk-Mahjoub
openaire   +4 more sources

MELAS syndrome complicated by anti-GFAP autoantibody positivity: a case report and literature review [PDF]

BMC Neurology
Background Autoimmune abnormalities have been reported in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but anti-glial fibrillary acidic protein (GFAP) antibody positivity in both serum and cerebrospinal ...
Jun Shu, Yiping Zhou, Ziwei Xu, Wenshi Wei, Lirong Zhao, Jie Chang   +5 more
doaj   +2 more sources

MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case

Остеопороз и остеопатии, 2019
MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine ...
Diliara Sh. Umiarova, Tatiana A. Grebennikova, Tatiana S. Zenkova, Ekaterina L. Sorkina, Zhanna E. Belaya   +4 more
doaj   +2 more sources

MELAS syndrome: Case report [PDF]

Medicinski casopis, 2011
Syndrome that includes mitochondrial encephalomyo-pathy, lactic acidosis, and stroke-like episodes is briefly called MELAS. It is a rare (estimated prevalence is 16/100 000), progressive, neurodegenerative and incurable disease. It is a result of mutation of mitochondrial DNA. We report herein a case of 24-year-old woman who suffers from MELAS.
Petrović, Milutin, Toncev, Gordana, Boskovic Matic, Tatjana, Gavrilovic, Aleksandar, Minić, Živana   +4 more
openaire   +4 more sources

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders

eNeurologicalSci, 2017
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders,
Yu-Xing Ge, Bo Shang, Wen-Zhen Chen, You Lu, Jue Wang   +4 more
doaj   +2 more sources

Neovascular Glaucoma in MELAS syndrome. [PDF]

Am J Ophthalmol Case Rep
To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes.Neovascular glaucoma is not a common manifestation of MELAS.We present a rare case of neovascular glaucoma in a patient with MELAS with a history of diabetes ...
Khanna S, Smith BT.
europepmc   +4 more sources

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report. [PDF]

Eur Heart J Case Rep, 2023
Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations.
Lee SH, Lee CJ.
europepmc   +3 more sources