Results 161 to 170 of about 15,339 (211)

Leigh syndrome

2023
Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. Bilateral symmetrical lesions, typically extending from the basal ganglia and thalamus through brainstem structures to the posterior columns of the spinal cord, are characterized microscopically by capillary proliferation ...
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Leigh's syndrome in an adult

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, I, Ferrer, J, Herraiz, J, Roquer, S, Serrano   +4 more
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Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

Molecular Genetics and Metabolism, 2016
Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live births. Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described.
Mike Gerards, Suzanne C E H Sallevelt, Hubert J M Smeets   +2 more
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Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations

Brain and Development, 2014
Background: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and ...
Kothari Sonam, Parayil Sankaran Bindu, Arun B Taly   +2 more
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Leigh and Leigh-Like Syndrome in Children and Adults

Pediatric Neurology, 2008
Leigh 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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Leigh syndrome associated with West syndrome

Brain and Development, 2003
Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. Patients with LS may develop seizures.
Masahiro, Tsuji, Shigekazu, Kuroki, Haruko, Maeda, Mieko, Yoshioka, Toshiro, Maihara, Tatsuya, Fujii, Masatoshi, Ito   +6 more
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Leigh syndrome with progressive ventriculomegaly

Pediatric Neurology, 1994
A 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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Anesthetic implications of Leigh's syndrome

Pediatric Anesthesia, 2004
SummaryLeigh'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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Disorders of Movement in Leigh Syndrome

Neuropediatrics, 1993
Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4, tremor in 2, chorea in 2, hypokinesia in 2, myoclonus in 1, and tics in 1.
A, Macaya, F, Munell, R E, Burke, D C, De Vivo   +3 more
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Maternally inherited Leigh syndrome

The Journal of Pediatrics, 1993
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point
E, Ciafaloni, F M, Santorelli, S, Shanske, T, Deonna, E, Roulet, C, Janzer, G, Pescia, S, DiMauro   +7 more
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