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). The initial (1)H MRS showed no N-acetyl aspartate (NAA) and marked accumulation of lactate (Lac) in the str...

Dimitri Renard, MD Helene Bonnaure, MD Pierre Labauge, MD, PhD A 46-year-old woman with a history of seizures, migraine, diabetes mellitus, and neurosensory hearing loss presented with progressive gait unsteadiness. Her mother had the same clinical features. Examination revealed short stature, cognitive deficit, and ataxia. Brain MRI showed diffuse atrophy and posterior leukoencephalopathy (fig...

MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link between mitochondrial DNA...

The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Example...

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Gaya is the headquarter town of. the district with the same name in Bihar. The present population is about 110,000. It is a place for the Hindu pilgrimage attracting people from all over India throughout the year. During the Pitri Poush Mela which comes off near about September every year the town is visited by about a lakh (100,000) of pilgrims. The town suffered from severe plague epidemics i...

Eight carriers of the A3243G mutation of mitochondrial DNA without stroke-like episodes were monitored for up to 7 years in clinical and metabolic studies, by magnetic resonance imaging (MRI) and positron emission tomography (PET). None developed mitochondrial encephalopathy (MELAS), but 2 developed diabetes mellitus, 1 terminal kidney failure and 2 cardiomyopathy. One patient improved markedly...