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leigh disease/temblor
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8 resultados
Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome.
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Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of
[Leigh disease in a 3-year-old girl].
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A case of Leigh disease in a 3-year-old girl is reported. The child had regression of the psychomotor development, muscular hypotonia, weak tendinous reflexes, opsoclonus, tremor of the whole body, hypertrichosis, autonomic system disturbances. Laboratory investigations demonstrated raised serum
[Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease].
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Clinical observations and results of investigations of pyruvic acid metabolism are reported in 4 children in whom subacute necrotizing encephalomyelopathy of Leigh was diagnosed intravitally. Attention is called to the similarity of the clinical manifestations with its onset in the first year of
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex].
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A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit,
Leigh's subacute necrotizing encephalomyelopathy: possible diagnosis by CT scan.
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A 28-month-old Korean girl developed a rapidly progressive disease, characterized by disturbance of consciousness, tremor, nystagmus, ophthalmoplegia, irregular deep respiration and vomiting. The patient succumbed 2 weeks after the onset of the illness. CT scan disclosed bilaterally symmetrical, low
[Leigh disease in a 17-year-old boy].
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A boy aged 1.5 year with deficient weight and height, retardation of motor development, decreased muscle tonus, finger tremor and periodic tachypnoea without detectable respiratory system changes is presented. Gasometry demonstrated metabolic acidosis with respiratory alkalosis, high concentration
Leigh syndrome associated with a novel mutation in the COX15 gene.
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Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
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Hypertrophic olivary degeneration (HOD) is associated with lesions within the dento-rubro-olivary pathway or Guillain-Mollaret triangle and may be associated clinically with palatal tremor. Here we report HOD on brain magnetic resonance (MR) imaging in three patients with progressive mitochondrial
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