Results 91 to 100 of about 133 (131)
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Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome
Journal of Child Neurology, 2010Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy)
Marie-Hélène Lambert +3 more
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Electrophysiological brainstem dysfunction in a child with Leigh disease
Pediatric Neurology, 1997We evaluated brainstem dysfunction in a girl with Leigh disease. Neuroradiological and neurophysiological tests included brain magnetic resonance imaging, [123I]IMP single-photon emission computed tomography (SPECT), auditory brainstem responses (ABRs), short-latency somatosensory evoked potentials (SSEPs), electrically elicited blink reflexes (BRs ...
Atsushi Yasaka +3 more
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2009
The disease subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh and therefore is also called Leigh’s disease (Leigh, 1951). This disorder, although afflicting mainly children, has many features similar to those of Wernicke’s disease.
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The disease subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh and therefore is also called Leigh’s disease (Leigh, 1951). This disorder, although afflicting mainly children, has many features similar to those of Wernicke’s disease.
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Cochlear Degeneration in Leigh Disease: Histopathologic Features
The Laryngoscope, 2004AbstractObjective: To describe pathologic findings from temporal bones acquired from an infant with Leigh disease.Study Design: Retrospective case review.Materials and Methods: Temporal bones were taken at autopsy from an 8‐month‐old infant with Leigh disease. The right temporal bone was studied by microdissection.
Karen S. Pawlowski +3 more
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Bull’s-Eye Maculopathy in an Infant With Leigh Disease
American Journal of Ophthalmology, 2006To report a bull's-eye maculopathy-like fundus abnormality in an infant with Leigh disease.Observational case report.We reviewed the medical, ophthalmic, and genetic records of an eight-month-old boy who presented with hypotonia and bilaterally decreased vision.The ophthalmic examination revealed poor fixation, marked hyperopia, attenuated retinal ...
Brian G. Mohney +2 more
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Leigh's Disease Associated With a Dorsal Midbrain Syndrome
Journal of Pediatric Ophthalmology & Strabismus, 2009Leigh's disease is a rare progressive neurodegenerative condition caused by a mitochondrial cytopathy. The authors present the case of a 9-year-old girl with dorsal midbrain syndrome causing convergence retraction nystagmus. Magnetic resonance imaging, skin biopsy, and genetic testing confirmed the cause to be Leigh's disease due to two
Stephanie K West +3 more
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Efficacy of Recommended Therapeutic Regimens in Leigh's Disease
Developmental Medicine & Child Neurology, 1974SUMMARYAn infant, diagnosed as having subacute necrotizing encephalopathy (Leigh's disease), was treated with a combination of recommended therapies, but there was no significant improvement and the child died at the age of 11 months. Autopsy supported the diagnosis. Hepatic pyruvate carboxyiase activity had been normal during the course of the disease.
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Specificity of the urine inhibitor test for Leigh's disease
Neurology, 1974In an attempt to evaluate the diagnostic potential of the urine test for phosphoryltransferase inhibition in subacute necrotizing encephalomyelopathy (Leigh9s disease), the test has been performed on 511 individuals. Of these, 137 are known not to have the disease. The rate of false positives in controls has been 6.4 percent.
Jonathan H. Pincus +3 more
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Mitochondrial abnormalities in choroid plexus of leigh disease
Brain and Development, 1988Morphological study of the choroid plexuses in three patients with Leigh disease revealed a marked increase in the number of mitochondria in almost all of the choroidal epithelial cells. This finding is considered the morphological expression of a biochemical defect in the mitochondrial metabolism underlying Leigh disease, and the probable explanation ...
E. Ohama +2 more
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Chronic leigh disease: A genetic and biochemical study
Annals of Neurology, 1980AbstractThe large family of a 21‐year‐old man who died of Leigh disease was investigated for evidence of neurological abnormalities and presence of the adenosine triphosphate‐thiamine diphosphate phosphoryltransferase inhibitor factor. Of 217 persons (seven generations) included in the pedigree, 68 were examined neurologically and biochemically ...
Jack R. Cooper +3 more
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