riboflavin/epilepsziás roham

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Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.

Csak regisztrált felhasználók fordíthatnak cikkeket

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A 29 year old woman is described with severe hyperemesis gravidarum, atypical migraine, numerous admissions to hospital for psychiatric illness, non-epileptic seizures, and valproate-induced coma. Metabolic studies and measurement of [9,10(n)-3H]palmitate oxidation by cultured fibroblasts suggested

The first febrile seizure--antipyretic instruction plus either phenobarbital or placebo to prevent recurrence.

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A randomized double-blind study was carried out comparing single daily dose phenobarbital plus antipyretic instruction to a placebo plus antipyretic instruction to prevent a recurrent seizure following an initial simple febrile seizure. Parents of 138 consecutive children presenting to an emergency

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox.

Csak regisztrált felhasználók fordíthatnak cikkeket

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A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Clinical

Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases.

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We reviewed the medical records of all patients with confirmed mitochondrial diseases treated with any or all of thiamin, riboflavin, coenzyme Q, vitamin C (approximately 10 mg/kg per day) and a high-fat diet (50-60% of caloric intake) between 1997 and 2003. There were 15 patients (9 male): 10 had

Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency.

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Landau-Kleffner syndrome is characterized by epileptic aphasia associated with electrical status epilepticus of slow wave sleep. A 5-year-old female, who had manifested normal developmental progress, was referred with principal complaints of fluctuating sensory aphasia and bizarre behavior during

[Body resistance to the exposure to sound against a background of unbalanced nutrition].

Csak regisztrált felhasználók fordíthatnak cikkeket

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Subject to study was the influence exercised by the excess of a number of vitamins in the diet (thiamine, ascorbic acid, cyanocolbalamine, riboflavin and pyridoxine) on the spastic susceptibility of the organism under the effect of a strong sonic stimulant. Pyridoxine exerted a noticeable protective

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

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A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of measles. The magnetic resonance imaging (MRI) of the brain showed cavitating leukodystrophy with posterior predominance. Molecular analysis

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria.

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L-2-hydroxyglutaric aciduria (L-2-HGA), a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH) gene, presents with psychomotor retardation, cerebellar ataxia, extrapyramidal symptoms, macrocephaly and seizures. Characteristic magnetic resonance imaging

[Characteristics of status epilepticus in MELAS. Analysis of four cases].

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BACKGROUND Clinical characteristics of status epilepticus (SE) as a first manifestation in patients with MELAS who had not previously epileptic episode has been studied little in the literature. OBJECTIVE Our aim was to analyse precipitating factors, clinical characteristics, EEG and difficulties in

Effectiveness of B vitamins on the control of hypertension and stroke events of SHRSP rats.

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The spontaneously hypertensive stroke-prone rat (SHRSP) is a recognized animal model for the study of severe hypertension and stroke, being characterized by presenting an elevated tissue levels of free radicals. Therefore, this study has the main goal to identify the effect of B vitamins, closely

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

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Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be

[Nutrition and dietary supplements in neurological diseases].

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"Healthy" diets and supplements are widely used for prevention and disease modification in vascular, inflammatory and degenerative neurological diseases. Apart from a large number of cross-sectional and prospective cohort studies, there are only few interventional studies on individual dietary

Celecoxib-induced methemoglobinemia.

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OBJECTIVE To report a case of acute methemoglobinemia in a patient treated with celecoxib for osteoarthritis. METHODS A 72-year-old African American man developed an acute confusional state (ACS) one month after receiving celecoxib for osteoarthritis of his knee joints. There was no other

Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.

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A Canadian Indian family is described in which three of the children were mentally retarded, and had seizures and other neurological abnormalities. They had chronic metabolic acidosis associated with elevated blood levels of lactate, pyruvate, and alanine. Two of the children excreted large amounts

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.

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Glutaric acidemia type 1 (GA1) is overrepresented in the aboriginal population of Island Lake, Manitoba, and northwestern Ontario who speak the Ojibway-Cree (Oji-Cree) dialect. The carrier frequency in these communities has been predicted to be as high as 1 in 10 individuals. Prior to beginning

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