leigh disease/crise epiléptica

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Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings.

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Subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder typically manifesting in the pediatric age group with variable clinical presentation and genetic heterogeneity. Late-onset varieties are extremely rare and only few cases

Anesthetic considerations in Leigh disease: Case report and literature review.

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Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients may also develop episodes of lactic acidosis

Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome).

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A family--mother and 2 sons--with a heredodegenerative neurological disease is described. The disease started with bilateral optic atrophy, central scotoma, and color blindness during the second decade. This was followed by a quiescent period until additional neurological symptoms appeared, around

Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease)

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We reviewed six cases of proven or probable subacute necrotizing encephalomyelopathy with an onset under 12 months of age. All children had been investigated at the Adelaide Children's Hospital in the period 1975-90. Seizures (five of six) and cortical blindness (five of six) were more prominent

Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.

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Subacute necrotizing encephalopathy (Leigh syndrome) is characterized by lactacidosis, seizures, ataxia, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects. This is a report on a 21-year-old patient with proven Leigh syndrome, mild central and provokable peripheral

Epileptic seizures in infants and children with mitochondrial diseases.

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The purpose of this study is to describe the characteristics of epileptic seizures in infants and children with mitochondrial diseases. From 1984 to December 2010, data from 46 of 76 patients diagnosed as having mitochondrial diseases with epileptic seizures were reviewed. Age at seizure onset,

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

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Leigh disease is a progressive, infantile-onset, neurodegenerative disorder characterized by feeding difficulties, failure to thrive, hypotonia, seizures, and central respiratory compromise. Metabolic and neuroimaging investigations typically identify abnormalities consistent with a disorder of

Subacute necrotizing encephalomyelopathy (Leigh's disease): a clinicopathologic study of ten cases.

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Archival material and clinical data of 10 autopsy cases of Leigh's disease (LS), aged from 44 days to 9 years at death, were reviewed. Development delay, irregular respiration, feeding difficulty, and abnormal eye signs were the most common symptoms. Seizures (five of ten cases) were also frequent.

Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype.

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Cardiomyopathy and neuromuscular abnormalities may simultaneously coexist and present with defects in mitochondrial DNA and bioenergetic function. We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects.

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OBJECTIVE To evaluate the clinical efficacy and safety of the ketogenic diet (KD) for patients with intractable childhood epilepsy and mitochondrial respiratory chain (RC) complex defects. METHODS A retrospective analysis evaluated outcomes in 14 children with intractable epilepsy and RC complex

Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.

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We measured local cerebral glucose utilization in 19 patients with Lennox-Gastaut syndrome (LG), partial seizures (PS), atypical and classical phenylketonuria (PKU), Leigh disease, and subacute sclerosing panencephalitis (SSPE), using positron emission tomography (PET). The mean values of regional

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

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We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The

[Familial mitochondrial encephalopathy. A clinicopathologic study].

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We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

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COX15 mutations were shown to underlie Leigh syndrome (LS), a progressive subacute necrotizing encephalopathy caused by defects in the mitochondrial respiratory chain. Here, two siblings of consanguineous kindred presented in infancy with a syndrome of hypotonia, nystagmus, psychomotor retardation,

[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency].

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Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture

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