Results 231 to 240 of about 12,985,405 (284)

Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy

Acta Neuropathologica, 1984
A dystrophic newborn girl (38th week of gestation) presented as a floppy infant with relapsing episodes of lactic acidosis and progressive cerebral deterioration. She died after serious apnoea at the age of 8 weeks. Neuropathological examination demonstrated widespread changes of Leigh's subacute polioencephalomyelopathy affecting the cerebral cortex ...
R J, Seitz, K, Langes, H, Frenzel, G, Kluitmann, W, Wechsler   +4 more
openaire   +2 more sources

Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

Pediatrics, 1987
Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarification requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such an unambiguous ...
Hans A. Kretzschmar, S. DeArmond, Thomas K. Koch, M. Patel, Christopher J. L. Newth, Kathleen Schmidt, Seymour Packman   +6 more
semanticscholar   +1 more source

Leigh’s Disease

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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Cochlear Degeneration in Leigh Disease: Histopathologic Features

The Laryngoscope, 2004
AbstractObjective: 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.
Seckin O, Ulualp, Charles G, Wright, Karen, Pawlowski, Peter S, Roland   +3 more
openaire   +2 more sources

Leigh's disease: a cause of arterial hypertension

Medical Journal of Australia, 1985
An 11-year-old boy developed sudden and severe arterial hypertension. A post-mortem examination revealed bilateral symmetrical lesions in the medulla oblongata which were typical of Leigh's disease (subacute necrotizing encephalomyelopathy). Other cases of Leigh's disease with hypertension or left ventricular hypertrophy have shown similar brain stem ...
R, Pamphlett, C, Harper
openaire   +2 more sources

Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome

Journal of Child Neurology, 2010
Two 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)
Debray, François-Guillaume, Lambert, Marie-Hélène, Allard, Pierre, Mitchell, Grant A   +3 more
openaire   +3 more sources

Leigh’s Disease (Subacute Necrotizing Encephalomyelopathy)

1994
Leigh’s disease is a rare neurodegenerative disease caused by disorders of pyruvate metabolism. Most cases occur sporadically but autosomal recessive inheritance has been reported. Respiratory failure is the most important manifestation in patients requiring neurocritical care.
Matthias Spranger, Michael N. Diringer
openaire   +1 more source

Leigh's disease

Medical Journal of Australia, 1986
James McGill, Thomas Maddison, Kevin Collins, Harley Powell, Eric Haan   +4 more
openaire   +1 more source

Leigh disease presenting as Guillain-Barré syndrome

Pediatric Neurology, 1993
A 4-year-old male evidenced the criteria for the diagnosis of Guillain-Barré syndrome. Eventually a diagnosis of Leigh disease was made based on magnetic resonance imaging and mitochondrial enzyme deficiencies. Although chronic neuropathy has been reported with Leigh disease, this is the first reported patient with acute symmetric motor polyneuropathy.
openaire   +2 more sources

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

American Journal of Medical Genetics. Part A, 2018
R. Stowe, Qin Sun, S. Elsea, F. Scaglia
semanticscholar   +1 more source