Results 1 to 10 of about 5,374 (184)

Perampanel: A therapeutic alternative in refractory status epilepticus associated with MELAS syndrome [PDF]

Epilepsy and Behavior Case Reports, 2019
To our knowledge, there are no reports of status epilepticus (SE) associated with mitochondrial diseases and treated with perampanel (PER). We present three cases of patients with refractory SE associated with MELAS syndrome who responded favorably to ...
Estevo Santamarina, Alicia Alpuente, Olga Maisterra, María Sueiras, Silvana Sarria, Lorena Guzman, Laura Abraira, Javier Salas-Puig, Manuel Toledo   +8 more
doaj   +9 more sources

Temporal bone histopathology in MELAS syndrome [PDF]

Laryngoscope Investigative Otolaryngology, 2020
Objectives Describe the histopathology of the temporal bones in MELAS (myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes) syndrome. The syndrome results from a known point mutation in mitochondrial DNA.
Ophir Handzel, Omer J. Ungar, Dan J. Lee, Joseph B. Nadol Jr   +3 more
doaj   +6 more sources

Melas Syndrome [PDF]

Pediatric Neurology Briefs, 1987
Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.
J Gordon Millichap
doaj   +5 more sources

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature [PDF]

Molecular Genetics & Genomic Medicine, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G.
Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan   +5 more
doaj   +3 more sources

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure [PDF]

Biomedicines, 2022
(1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuronal ...
Sophie Belal, David Goudenège, Cinzia Bocca, Florent Dumont, Juan Manuel Chao De La Barca, Valérie Desquiret-Dumas, Naïg Gueguen, Guillaume Geffroy, Rayane Benyahia, Selma Kane, Salim Khiati, Céline Bris, Tamas Aranyi, Daniel Stockholm, Aurore Inisan, Aurélie Renaud, Magalie Barth, Gilles Simard, Pascal Reynier, Franck Letournel, Guy Lenaers, Dominique Bonneau, Arnaud Chevrollier, Vincent Procaccio   +23 more
doaj   +4 more sources

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report [PDF]

Frontiers in Genetics
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr’s syndrome with “near” sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD).
Yan Zheng, Haohao Wu, Meng Zhang, Baogang Huang, Junsu Yang, Chuan Liu, Hanmin Wang, Kang Du   +7 more
doaj   +4 more sources

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

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

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 mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report [PDF]

Radiology Case Reports, 2021
: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial disorders, with no specific treatment available.
T.M. Trang, MD, P.C. Chien, MD, B.T. Dung, MD, N.T.H. Thu, MD, N.T.T. Truc, MD, V.N.C. Khang, MD   +5 more
doaj   +2 more sources