Imaging findings of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is poorly documented. The authors present a 48-year-old woman with subacute onset of word-finding difficulties and right arm stiffness. Magnetic resonance imaging performed 2 weeks prior revealed left temporal lobe diffusion and fluid-attenuated inversion recovery hyperint...

PURPOSE It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes. METHOD The mitochondrial mutations A3243G and T3271C were investigated in 38 subjec...

BACKGROUND POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. CASE PRESENTATION We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and r...

= Abstract =MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) is a rare and currently incompletely defined mitochondrial disease involving mainly muscle and brain. We have recently seen a 17-year-old male patient who, we believe, is the first Korean case. The patient showed the classical picture of MELAS: short stature, generalized limb weakness, ...

Introduction Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by We...

Invasive infection with the opportunistic fungus Aspergillus fumigatus predominantly affects people with impaired cell mediated immunity. The case of a 31 year old woman with no identified cause for immunosuppression who presented with severe refractory aspergillosis of the paranasal sinuses is reported. She subsequently developed clinical and molecular evidence of mitochondrial encephalomyopat...

With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243ANG mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns. MELAS may be associated with sudden cardiac death [2]. Did the authors consider implantati...

TO THE EDITOR: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) syndrome has not been reported previously in the Aboriginal Australian population. Here, we describe a patient with MELAS syndrome in this population. A 29-year-old Aboriginal Australian woman presented with a 3-day history of seizures and confusion and a background of cognitive impairment, s...

OBJECTIVE Impaired muscular mitochondrial function is related to common insulin resistance in type 2 diabetes. Mitochondrial diseases frequently lead to diabetes, which is mostly attributed to defective beta-cell mitochondria and secretion. RESEARCH DESIGN AND METHODS We assessed muscular mitochondrial function and lipid deposition in liver (hepatocellular lipids [HCLs]) and muscle (intramyoc...