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Anesthetic implications of Leigh's syndrome
Pediatric Anesthesia, 2004SummaryLeigh's syndrome (LS) is a mitochondrial disorder characterized by progressive neurodegenerative changes with loss of developmental milestones, abnormalities of central control of respiration, and metabolic derangements. The primary genetic defect involves the respiratory chain complex and pyruvate dehydrogenase complex resulting in abnormal ...
Torin, Shear, Joseph D, Tobias
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Leigh syndrome with progressive ventriculomegaly
Pediatric Neurology, 1994A 6-month-old female infant was diagnosed with Leigh syndrome after an abnormal muscle specimen was obtained and after magnetic resonance imaging demonstrated characteristic cranial lesions. She presented with episodic hyperventilation, myoclonus, ophthalmoplegia, hypotonia, and elevation of lactate in the cerebrospinal fluid and blood.
C S, Chi, S C, Mak, W J, Shian
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Heterogeneous presentation in Leigh syndrome
Journal of Inherited Metabolic Disease, 1997Heterogeneous presentation in Leigh syndrome L. Vilarinho1,2*, C. Maia3, T. Coelho4, P. Coutinho4 and F. M. Santorelli2 1Department of Clinical Biology, Instituto de Genetica Medica, Porto, Portugal; 2Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, NY, USA; 3Department of Pediatrics, Hospital S. Januario, Macau;
L, Vilarinho +4 more
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Harefuah, 1989
Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease.
T, Lerman-Sagie, M, Mukamel, M, Mimouni
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Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease.
T, Lerman-Sagie, M, Mukamel, M, Mimouni
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Radiology
A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact.
Bilal Hai +3 more
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A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact.
Bilal Hai +3 more
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Journal of Neurology, 1984
A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy.
E, Masó +4 more
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A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy.
E, Masó +4 more
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Animal Model for Leigh Syndrome
2019Leigh syndrome (LS) is a common neurodegenerative disease affecting neonates with devastating sequences. One of the characteristic features for LS is the phenotypic polymorphism, which-in part-can be dedicated to variety of genetic causes. A strong correlation with mitochondrial dysfunction has been assumed as the main cause of LS.
Sara, El-Desouky +4 more
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Leigh and Leigh-Like Syndrome in Children and Adults
Pediatric Neurology, 2008Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity.
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