Disease relevance of MELAS Syndrome

• We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome [1].
• The authors performed a serial study of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome (MELAS) who presented with diffusion-weighted MRI (DWI) [2].
• CPEO and carnitine deficiency overlapping in MELAS syndrome [3].
• Our findings indicate that the symptoms of the mitochondrial encephalopathy, myopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome cannot be fully explained by the mitochondrial angiopathy alone [4].
• We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl [5].

High impact information on MELAS Syndrome

• Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome [6].
• Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case [3].
• We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency [3].
• Resistance to cisatracurium in a patient with MELAS syndrome [7].
• Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome [8].

Chemical compound and disease context of MELAS Syndrome

• This case report describes a follow up investigation of a patient with impaired word discrimination due to mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (MELAS) using proton magnetic resonance spectroscopy ((1)H MRS) and auditory evoked magnetic fields (AEFs) [9].
• Response to sumatriptan in headache of MELAS syndrome [10].

Gene context of MELAS Syndrome

• Sensorineural hearing loss in MELAS syndrome [11].
• Three patients had MELAS syndrome, 7 Marinesco-Sjögren syndrome, and 2 Kearns-Sayre syndrome [12].
• Moyamoya disease initially mimicking MELAS syndrome in a 14-month-old child [13].

Analytical, diagnostic and therapeutic context of MELAS Syndrome

• MATERIAL AND METHODS: A 29-year-old woman with MELAS syndrome presented with sensorineural hearing loss and diabetes mellitus and underwent multichannel cochlear implantation [14].

References